Wednesday, March 14, 2012
Coalition for Usher Syndrome Research now on Facebook!
Friday, March 9, 2012
The Bella Chronicles, Part V: Reasons to Advocate
by Mark Dunning
My daughter Bella is thirteen years old. She is in the first year of middle school and has had a very hard time. With her permission, I have been writing about her experiences and what we did as a family to address the issues. You can read the previous posts here (Part I, Part II, Part III, Part IV)
Ultimately the biggest factor in Bella’s difficulties was that she stopped advocating for herself. This year's ordeal has brought home to us the breadth of situations in which mainstreamed Usher kids need advocacy to succeed. Identifying these issues is the first step to solving them, of course, so we've compiled a list of specific circumstances that have contributed to Bella's difficulties this year with the hope that other Usher families will find this helpful when navigating through the education system.
A couple of things you’ll notice about the list that follows. First, a lot of this sounds like stuff covered in an individual education plan (IEP). So it should be taken care of by the school, right? Well, not necessarily. See even the best intentioned schools and the best teachers forget sometimes. Even if the school and teachers and the family are all in violent agreement on the needs of the child, even if everyone does everything they have committed to doing, even if everyone always acts in the best interest of the child, there are still going to be times when the kid has to stand up and say something.
For example, I went for a walk with Bella in the woods the other day. It was a narrow trail and she was walking in front of me. She asked me to stop talking to her until the trail widened and she could walk beside me because she couldn’t read my lips when I was behind her. Now, I’m her Dad. I always look out for her. And yet, here’s an example where even I fail to meet her needs. So don’t count on the IEP to ensure the needs of your kid are met. Writing it on paper and implementing it in the real world are two different things. Your child is going to have to stand up for himself/herself pretty frequently.
That’s the other point I wanted to make. Think of advocating as teaching. People generally want to do the right thing, they just either don’t know what that is or they forget. Bella rides horses. She wouldn’t think twice about reminding someone not to walk behind a horse or to flatten their hand and tuck their thumb when feeding a horse an apple. Advocating is no different. No one in the world is more expert on Usher syndrome than a kid with Usher. Bella is just spreading that knowledge when she advocates. So she’s not slowing down the class or annoying the teacher or offending her peers. She’s teaching them. And I don’t say that to make her feel better. It’s the truth.
It also means that while kids with Usher need to stand up for themselves pretty much every day, they most likely won’t have to address the same issues all the time with the same people. Once a teacher learns that he needs to face the class while he speaks, for instance, he will probably do it every time. Oh sure, he’ll need a reminder now and then (like me on the hike), but advocating for yourself early on often solves the problem permanently. You’re training someone on the right way to do something.
One final note: This is by no means a complete list. It’s a sampling. But I think you’ll see pretty quickly why advocating becomes an everyday occurrence for these kids. I’ll give you details on some of the issues and let you imagine the honorable mentions.
Visual Issues
Can’t read the homework or the test
Sometimes the font is too small. Sometimes the copy is too light and doesn’t have enough contrast. Sometimes the quality of the paper makes it hard to read. It seems easy to resolve this problem, right? “Um, Mrs. So-and-so, I can’t read this.” But imagine the situation. The test is about to start. Everyone else is writing away. The Usher kid is already worried about having enough time to complete it (more on that in a second). The teacher needs to be there to answer questions from the other kids. The kid is worried the teacher will be mad if she has to run back to the copy room and make a larger, darker copy. So they make due, misread problems or run out of time, then feel like they are not as smart as the other kids when they get the grade.
Honorable mentions
Can’t read the number of the bus
Can’t read the label on the mystery meat in the cafeteria
Need a break or more time during tests
Even if a test is legible, it can still be hard on a kid with Usher to keep up. This is especially true later in the day. It is exhausting to have Usher syndrome. These kids need frequent breaks. But it’s taboo to ask for a break during a test. This is where the IEP is helpful. If a kid knows that the teacher understands, they are more likely to ask.
Honorable mention
Permission to do every other problem on a long homework assignment because it takes you longer to do than your peers and you are already exhausted when you get home.
Can’t see the chalkboard/smartboard/whiteboard
Sometimes it’s the glare. Sometimes it’s the lighting. It might just be that the teacher writes too small or illegibly. Whatever the reason, kids with Usher, because of their hearing issues, rely very heavily on the board for context. When they can’t see it, it’s a problem. This is one of the easier one’s for the Usher kid to advocate for, though, because usually there are other kids in class that feel the same way, even if they don’t have vision issues. Kids are more likely to say something when they get positive reinforcement from their peers.
Honorable mention
Need the notes for the days lesson from the teacher because you can’t read lips and write notes at the same time (and you can’t, so don’t even consider asking your kid to do it)
Can’t see with the shades closed or, conversely, the lights turned off
Can’t navigate a situation easily without a guide
“OK everybody, we’re going to gym to watch a special movie with the rest of the school.” Uh-oh, thinks the kid with Usher, it’s going to be crowded and dark and I’m not going to be able to see. This is more of a problem early in the school year when the kid might not know the other kids in class all that well. As time goes on, they feel more comfortable latching on to a friend. I suspect this problem will diminish in time with Bella. She’s tall and blond. The boys in class are going to be knocking each other over to offer her an elbow. Asking someone you don’t know all that well for help is hard, though, especially for self-conscious teenage girls.
Honorable mentions
Can’t find a seat in a dark bus without the interior lights turned on (and this changes as the seasons change)
Can’t find the right book in a dark locker
Hearing Issues
Can’t hear an oral quiz
Bella took Spanish this year. Every day they would have an oral quiz on the words from the day before. The teacher would walk around the room saying words while the kids shuffled their papers, tapped their desks, and groaned. Bella couldn’t read the teacher’s lips and struggled to hear the unfamiliar words. She had the same problem in music. The teacher would sing lyrics and the kids were supposed to write down the song. Yikes. By the time we figured out what was going on, she was too stressed out and too far behind to catch up.
Two points about this. First, um, hello? Teachers? The kid is deaf. You saw the IEP. You’re going to have to adapt your approach for the kid. But this is more about Bella advocating for herself. Realistically she wasn’t going to stand up and ask the teacher to change her ways. However, she should have come home after that first Spanish test and told us what was going on. We would have been in the principal’s office the next day. But she didn’t do that. Instead she boiled until she couldn’t take it anymore and we had to pull her from the classes.
What should have happened, and has since with oral tests, is that Bella gets to take them separate from the noise of the class in another room one on one with a teacher. The teacher sits across from her where Bella can read lips, enunciates the words, and repeats them as many times as Bella needs.
Honorable Mentions
Can’t understand a video without close captioning (and the other kids groan when the words fill the screen)
Can’t hear announcements done over the loud speaker (ask the teacher to repeat)
Can’t hear what the bus driver just said (ask the kid in the next seat to repeat)
Can’t understand the other kids unless they face you when they speak
Imagine being a self-conscious 13 year-old girl with zits asking the cute boy two rows over to face you when he answers the teacher’s question. Yikes. That’s the advocating Mount Everest right there. There is a better way to do it. Talk to the teacher after class and remind her to ask all the students to face the kid with Usher when they speak. Better yet, reconfigure the desk arrangement in a square to that everyone can see everyone. Then no one has to remember. Again, this might not be something the kid with Usher says to the teacher, but if your kid tells you, then you can work with the teacher for her. Advocating isn’t always student to teacher. It’s often student to parent to administration to teacher. But it always starts with the student speaking up.
Honorable Mentions
Can’t understand the teacher unless he faces the class when he speaks
Need one kid to speak at a time. No shouting out answers.
Clarifying what was heard. Did you say corporation or cooperation?
Vestibular, Vision, and Hearing Issue
Need extra time to bring equipment from class to class
How about one final example that takes in all three of the traits of Usher syndrome? Bella uses an FM, which is basically a microphone that the teacher wears. She also has a pass around microphone that is used by other kids in the class during discussion. These things work great and really help her. However, there is only one FM and one microphone, so Bella has to bring them with her to each class. It takes time to get the teacher hooked up and time to get the teacher to shut down and hand over the device. It’s not long, but it’s a minute or two. So Bella holds up the class when she gets there and is the last one out of the room when class ends.
This is a problem when you have low vision and negotiating the hallways is difficult. Hallways in middle school look like a scene out of Braveheart. There are swarms of kids shouting and jostling as they race from one class to the next. And remember, for kids with Usher type I like Bella, balance is a real problem. The kid gets bounced all over the place, she can’t hear what anybody is saying over the din, the lighting isn’t great and even when it is, there are shadows and bodies all over the place.
We’ve talked a lot about the mental exhaustion of having Usher, but there is physical exhaustion, too. Bella simply works harder physically to get from place to place. And when she has to do so faster than the other kids, it’s nearly impossible. Bella’s teachers didn’t realize this. They were very considerate of her for the most part in class, but the between class chaos was invisible to them. Asking to leave a minute or two early so you can walk an empty hallway and have some extra time to set up in the next class can really help.
Honorable Mention
Need the teacher to wait until you are seated before starting a lesson. The bottom line is that a child with
Usher needs to advocate for themselves almost every day. Sometimes that means telling mom and dad about a problem, sometimes it’s reminding a teacher, and sometimes it’s asking a peer for a favor. Whatever the route they have to take, they have to advocate for themselves. When they don’t, they get very frustrated and their school work can suffer.
OK, so this gave you an idea of the amount of advocating a kid has to do. In the next post I’ll wrote about how we helped Bella to address her issues with advocating.
My daughter Bella is thirteen years old. She is in the first year of middle school and has had a very hard time. With her permission, I have been writing about her experiences and what we did as a family to address the issues. You can read the previous posts here (Part I, Part II, Part III, Part IV)
Ultimately the biggest factor in Bella’s difficulties was that she stopped advocating for herself. This year's ordeal has brought home to us the breadth of situations in which mainstreamed Usher kids need advocacy to succeed. Identifying these issues is the first step to solving them, of course, so we've compiled a list of specific circumstances that have contributed to Bella's difficulties this year with the hope that other Usher families will find this helpful when navigating through the education system.
A couple of things you’ll notice about the list that follows. First, a lot of this sounds like stuff covered in an individual education plan (IEP). So it should be taken care of by the school, right? Well, not necessarily. See even the best intentioned schools and the best teachers forget sometimes. Even if the school and teachers and the family are all in violent agreement on the needs of the child, even if everyone does everything they have committed to doing, even if everyone always acts in the best interest of the child, there are still going to be times when the kid has to stand up and say something.
For example, I went for a walk with Bella in the woods the other day. It was a narrow trail and she was walking in front of me. She asked me to stop talking to her until the trail widened and she could walk beside me because she couldn’t read my lips when I was behind her. Now, I’m her Dad. I always look out for her. And yet, here’s an example where even I fail to meet her needs. So don’t count on the IEP to ensure the needs of your kid are met. Writing it on paper and implementing it in the real world are two different things. Your child is going to have to stand up for himself/herself pretty frequently.
That’s the other point I wanted to make. Think of advocating as teaching. People generally want to do the right thing, they just either don’t know what that is or they forget. Bella rides horses. She wouldn’t think twice about reminding someone not to walk behind a horse or to flatten their hand and tuck their thumb when feeding a horse an apple. Advocating is no different. No one in the world is more expert on Usher syndrome than a kid with Usher. Bella is just spreading that knowledge when she advocates. So she’s not slowing down the class or annoying the teacher or offending her peers. She’s teaching them. And I don’t say that to make her feel better. It’s the truth.
It also means that while kids with Usher need to stand up for themselves pretty much every day, they most likely won’t have to address the same issues all the time with the same people. Once a teacher learns that he needs to face the class while he speaks, for instance, he will probably do it every time. Oh sure, he’ll need a reminder now and then (like me on the hike), but advocating for yourself early on often solves the problem permanently. You’re training someone on the right way to do something.
One final note: This is by no means a complete list. It’s a sampling. But I think you’ll see pretty quickly why advocating becomes an everyday occurrence for these kids. I’ll give you details on some of the issues and let you imagine the honorable mentions.
Visual Issues
Can’t read the homework or the test
Sometimes the font is too small. Sometimes the copy is too light and doesn’t have enough contrast. Sometimes the quality of the paper makes it hard to read. It seems easy to resolve this problem, right? “Um, Mrs. So-and-so, I can’t read this.” But imagine the situation. The test is about to start. Everyone else is writing away. The Usher kid is already worried about having enough time to complete it (more on that in a second). The teacher needs to be there to answer questions from the other kids. The kid is worried the teacher will be mad if she has to run back to the copy room and make a larger, darker copy. So they make due, misread problems or run out of time, then feel like they are not as smart as the other kids when they get the grade.
Honorable mentions
Can’t read the number of the bus
Can’t read the label on the mystery meat in the cafeteria
Need a break or more time during tests
Even if a test is legible, it can still be hard on a kid with Usher to keep up. This is especially true later in the day. It is exhausting to have Usher syndrome. These kids need frequent breaks. But it’s taboo to ask for a break during a test. This is where the IEP is helpful. If a kid knows that the teacher understands, they are more likely to ask.
Honorable mention
Permission to do every other problem on a long homework assignment because it takes you longer to do than your peers and you are already exhausted when you get home.
Can’t see the chalkboard/smartboard/whiteboard
Sometimes it’s the glare. Sometimes it’s the lighting. It might just be that the teacher writes too small or illegibly. Whatever the reason, kids with Usher, because of their hearing issues, rely very heavily on the board for context. When they can’t see it, it’s a problem. This is one of the easier one’s for the Usher kid to advocate for, though, because usually there are other kids in class that feel the same way, even if they don’t have vision issues. Kids are more likely to say something when they get positive reinforcement from their peers.
Honorable mention
Need the notes for the days lesson from the teacher because you can’t read lips and write notes at the same time (and you can’t, so don’t even consider asking your kid to do it)
Can’t see with the shades closed or, conversely, the lights turned off
Can’t navigate a situation easily without a guide
“OK everybody, we’re going to gym to watch a special movie with the rest of the school.” Uh-oh, thinks the kid with Usher, it’s going to be crowded and dark and I’m not going to be able to see. This is more of a problem early in the school year when the kid might not know the other kids in class all that well. As time goes on, they feel more comfortable latching on to a friend. I suspect this problem will diminish in time with Bella. She’s tall and blond. The boys in class are going to be knocking each other over to offer her an elbow. Asking someone you don’t know all that well for help is hard, though, especially for self-conscious teenage girls.
Honorable mentions
Can’t find a seat in a dark bus without the interior lights turned on (and this changes as the seasons change)
Can’t find the right book in a dark locker
Hearing Issues
Can’t hear an oral quiz
Bella took Spanish this year. Every day they would have an oral quiz on the words from the day before. The teacher would walk around the room saying words while the kids shuffled their papers, tapped their desks, and groaned. Bella couldn’t read the teacher’s lips and struggled to hear the unfamiliar words. She had the same problem in music. The teacher would sing lyrics and the kids were supposed to write down the song. Yikes. By the time we figured out what was going on, she was too stressed out and too far behind to catch up.
Two points about this. First, um, hello? Teachers? The kid is deaf. You saw the IEP. You’re going to have to adapt your approach for the kid. But this is more about Bella advocating for herself. Realistically she wasn’t going to stand up and ask the teacher to change her ways. However, she should have come home after that first Spanish test and told us what was going on. We would have been in the principal’s office the next day. But she didn’t do that. Instead she boiled until she couldn’t take it anymore and we had to pull her from the classes.
What should have happened, and has since with oral tests, is that Bella gets to take them separate from the noise of the class in another room one on one with a teacher. The teacher sits across from her where Bella can read lips, enunciates the words, and repeats them as many times as Bella needs.
Honorable Mentions
Can’t understand a video without close captioning (and the other kids groan when the words fill the screen)
Can’t hear announcements done over the loud speaker (ask the teacher to repeat)
Can’t hear what the bus driver just said (ask the kid in the next seat to repeat)
Can’t understand the other kids unless they face you when they speak
Imagine being a self-conscious 13 year-old girl with zits asking the cute boy two rows over to face you when he answers the teacher’s question. Yikes. That’s the advocating Mount Everest right there. There is a better way to do it. Talk to the teacher after class and remind her to ask all the students to face the kid with Usher when they speak. Better yet, reconfigure the desk arrangement in a square to that everyone can see everyone. Then no one has to remember. Again, this might not be something the kid with Usher says to the teacher, but if your kid tells you, then you can work with the teacher for her. Advocating isn’t always student to teacher. It’s often student to parent to administration to teacher. But it always starts with the student speaking up.
Honorable Mentions
Can’t understand the teacher unless he faces the class when he speaks
Need one kid to speak at a time. No shouting out answers.
Clarifying what was heard. Did you say corporation or cooperation?
Vestibular, Vision, and Hearing Issue
Need extra time to bring equipment from class to class
How about one final example that takes in all three of the traits of Usher syndrome? Bella uses an FM, which is basically a microphone that the teacher wears. She also has a pass around microphone that is used by other kids in the class during discussion. These things work great and really help her. However, there is only one FM and one microphone, so Bella has to bring them with her to each class. It takes time to get the teacher hooked up and time to get the teacher to shut down and hand over the device. It’s not long, but it’s a minute or two. So Bella holds up the class when she gets there and is the last one out of the room when class ends.
This is a problem when you have low vision and negotiating the hallways is difficult. Hallways in middle school look like a scene out of Braveheart. There are swarms of kids shouting and jostling as they race from one class to the next. And remember, for kids with Usher type I like Bella, balance is a real problem. The kid gets bounced all over the place, she can’t hear what anybody is saying over the din, the lighting isn’t great and even when it is, there are shadows and bodies all over the place.
We’ve talked a lot about the mental exhaustion of having Usher, but there is physical exhaustion, too. Bella simply works harder physically to get from place to place. And when she has to do so faster than the other kids, it’s nearly impossible. Bella’s teachers didn’t realize this. They were very considerate of her for the most part in class, but the between class chaos was invisible to them. Asking to leave a minute or two early so you can walk an empty hallway and have some extra time to set up in the next class can really help.
Honorable Mention
Need the teacher to wait until you are seated before starting a lesson. The bottom line is that a child with
Usher needs to advocate for themselves almost every day. Sometimes that means telling mom and dad about a problem, sometimes it’s reminding a teacher, and sometimes it’s asking a peer for a favor. Whatever the route they have to take, they have to advocate for themselves. When they don’t, they get very frustrated and their school work can suffer.
OK, so this gave you an idea of the amount of advocating a kid has to do. In the next post I’ll wrote about how we helped Bella to address her issues with advocating.
Friday, February 24, 2012
“Stem Cell Treatment Cures Blindness?” No, not quite.
by Jennifer Phillips, Ph.D.
I spend an average of 15-20 hours a week reading scientific literature. Most of this is extremely specialized stuff, pertaining either to my specific area of research or to some detailed experimental method I want to learn more about. However, I’m always on alert for a science story that will have broader appeal to our Usher Blog audience, and maybe implications for the future of therapeutic Usher research.
One such story was published in the prestigious medical journal, The Lancet, a few weeks back. It’s a very nice—albeit preliminary—finding that is unambiguously deserving of attention and admiration. But what’s actually in the paper is only part of the story. The other part is my ongoing lament about how badly the media can botch science reporting. I’ve grumped about this before, and this is yet another example of this unfortunate phenomenon.
The paper, entitled ““Embryonic stem cell trials for macular degeneration: a preliminary report” has made quite a splash in the international news. For the first time, a retinal cell type derived from human embryonic stem cells (hESCs) was used in Phase I Clinical Trials as a potential treatment for two types of Retinal Degeneration. This is noteworthy in and of itself, given that using hESC-derived cells for any therapies is a nascent field. I’ve written previously about risks, benefits, and open questions in this field, and studies such as this add volumes to our body of knowledge about stem cell biology. Being able to harness the potential of pluripotent cells which can:
A) differentiate into a functional, specialized cell type
B) integrate into a human organ/tissue without being rejected by the immune system
C) not form tumors and
D) beneficially impact the progression of a degenerative (or, really, any) disease
is a really, really big deal.
Achieving item A above, along would with adequate and successful safety testing in animal models, would be a prerequisite to any clinical trial. Recall that in a Phase I trial, safety and tolerance for various doses are the primary objectives. In a Phase I trial involving Stem Cells, therefore, you’d want to focus mainly on items B and C above. But, as we’ve seen before with Phase I trials, if something really remarkable approaching the realm of ‘D’ happens during the Phase I study, the researchers might be inclined to publish a preliminary report and share the news. The LCA gene replacement study published in 2009 is one such example. So is that also the case with this new Lancet paper? Let’s dive in and see.
Recall, if you will, the title of the article: “Embryonic stem cell trials for macular degeneration: a preliminary report”. Fairly understated, wouldn’t you say? Well, this is a stodgy medical journal, after all. So you can hardly blame the media for gussying up the story just a bit with headlines such as “Giving sight to macular degeneration patients , or ”Once they were blind, now they see. Patients treated with cells from human embryo: Controversial medical breakthrough restores vision – now doctors hope to repeat the success”
This would obviously be fantastic news if it were true, but let’s tune out the sensational journalism for a moment and establish what the Lancet article actually reports.
The Study Design
The paper in question is actually reporting preliminary results from two simultaneously conducted Phase I trials. Both trials are using Retinal Pigmented Epithelial (RPE) cells derived from hESC lines as a potential treatment for two different types of retinal degeneration: Age Related Macular Degeneration (ARMD) and Stargardt’s Macular Dystrophy. Blindness in both of these conditions results from defects in the RPE, which causes the photoreceptors to degenerate, thus it makes good sense to attempt to replace the defective cell type in an attempt to ultimately rescue the photoreceptor loss.
As with all Phase I trials, both of these trials are primarily concerned with safety, tolerance of the treatment, and optimizing the dosage. Both studies are ongoing and anticipate a total of 24 patients (12 in each study), who will receive different dosages. In these two studies, the ‘dosage’ is defined as the actual number of RPE cells that are surgically introduced into the retina—a procedure performed on one eye (the other eye received no treatment and thus served as an experimental control) at the beginning of the study. Patients are then followed for several months and examined for any tissue damage related to the treatment as well as for abnormal growth of the implanted cells.
The Results
The Lancet paper reports results from two patients—one from each of these Phase I trials—who were followed for four months after their procedures. The first half of the paper’s results describes the preparation of the RPE cells and safety testing conducted in mice. The patient data dealt principally with the fact that neither of these subjects, both females with significant loss of central vision typical of end-stage macular degeneration, experienced any adverse reactions to the treatment. No swelling, no pain, no abnormal cell growth, no immune response to the implanted cells. All good news.
The authors then go on to report the findings that got the International News all churned up. Both of these patients—again, each with a different type of severe macular degeneration—reported improvement in their vision after the procedure. What kind of improvement, exactly?
The ARMD patient was able to read more letters on the chart in the weeks following her treatment, which must have been tremendously exciting for her. These results must be interpreted with some caution, however, because this is a pretty subjective test, for one, and there were no other clinical findings to support the improvement—no changes were detected in her retina when compared to her preoperative condition. Further confounding these results was the fact that this patient experienced an improvement in her ‘control’ eye as well—the one which received no treatment at all. Thus, it is a possibility that at least some of her perceived improvement was derived from the placebo effect of having had surgery and postoperative care.
Reported improvement in the Stargardt’s subject were less ambiguous, and could be verified by clinical examination in addition to the subjective visual perceptions of the patient. Prior to the procedure, this woman’s vision was so diminished that she could perceive a hand being waved in front of her, but could not make out details like individual fingers or letters on an eye chart. Several weeks after the procedure she began to be increasingly able to count individual fingers. She also reported an improved color perception after the transplant. Encouragingly, tests on her retina revealed that the implanted RPE cells had integrated into her retina, ‘filling in’ a portion of that cell layer which had previously been destroyed by the disease. The Stargardt patient’s improvements were limited to her operated eye.
The Bottom Line
It’s really cool stuff, on several levels. This is the first time that a cell population derived from hESCs has been successfully used in a clinical trial. This is also the first time that RPE cells have been successfully introduced into a diseased human eye. Previous attempts at RPE replacements, using mature adult or fetal RPE cells, have been made in ARMD patients but have been unsuccessful, so it’s very exciting preliminary data on that front. And of course the fact that visual function improvements seem to be occurring in these subjects is more important still, particularly considering the advanced stages of their respected diseases. Indeed, once the procedure is optimized through these trials, the treatment is actually intended for patients with less advanced MD, in order to prevent vision loss, rather than aiming to restore it. End-stage patients were chosen for these Phase I trials precisely because their vision is already so bad it’s unlikely that it could be further compromised if something were to go wrong with the procedure. Preliminary though these results may be, it would be wonderful if the recipient pool of the developed treatment could be expanded to include patients with more severe manifestations of these types of diseases.
But….
It’s really preliminary. This is two patients we’re talking about, and while we can celebrate the fact that they came through the procedure without any adverse side effects (so far) AND some apparent improvements in their vision, it is too soon to apply these results to a larger population. This preliminary report allows us to be cautiously optimistic that the additional results forthcoming from these studies will be consistent with the promising findings from these two test cases. It does NOT allow us to declare that ARMD and/or Stargardt’s has been “cured” by stem cells, or even that sight/vision has been “restored”, as the headlines declare.
What this means for Usher patients
Directly and immediately, nothing. Usher syndrome is not a disease of the RPE, so this particular cell line would not likely be effective in forestalling photoreceptor degeneration in USH patients. In the longer term, though, I think we can be encouraged by the fact that the generation of these cells from hESCs has been far more successful than any other cell-based treatment to date. In time, other cell types could be procured in a similar manner and, potentially, treatments that could benefit Usher patients could be developed.
What it also means is a modicum of caution. Given the buzz that this story has created, it would not be surprising if some charlatans around the world used the early success of this trial to sell ‘stem cell’ treatments for all sorts of degenerative conditions for which there currently are no cures. Don’t believe it. We’re not there yet. But we’re working on it. Be encouraged.
Addendum
2/27/12 - After this article was posted, a reader sent this link in the blog comments. It's such a great talk we wanted to give it more visibility. It's a talk from a recent stem cell research conference, given by the lead investigator on the stem cell therapy referenced in this post.
The presentation is geared to a professional audience, so it might be a bit dense with jargon in parts, but well worth the 20 minutes. Enjoy! - Jennifer
Reference: Steven D Schwartz, Jean-Pierre Hubschman, Gad Heilwell, Valentina Franco-Cardenas, Carolyn K Pan, Rosaleen M Ostrick, Edmund Mickunas, Roger Gay, Irina Klimanskaya, Robert Lanza. Embryonic stem cell trials for macular degeneration: a preliminary report. The Lancet published online January 23, 2012; DOI: 10.1016/S0140-6736(12)60028-2.
I spend an average of 15-20 hours a week reading scientific literature. Most of this is extremely specialized stuff, pertaining either to my specific area of research or to some detailed experimental method I want to learn more about. However, I’m always on alert for a science story that will have broader appeal to our Usher Blog audience, and maybe implications for the future of therapeutic Usher research.
One such story was published in the prestigious medical journal, The Lancet, a few weeks back. It’s a very nice—albeit preliminary—finding that is unambiguously deserving of attention and admiration. But what’s actually in the paper is only part of the story. The other part is my ongoing lament about how badly the media can botch science reporting. I’ve grumped about this before, and this is yet another example of this unfortunate phenomenon.
The paper, entitled ““Embryonic stem cell trials for macular degeneration: a preliminary report” has made quite a splash in the international news. For the first time, a retinal cell type derived from human embryonic stem cells (hESCs) was used in Phase I Clinical Trials as a potential treatment for two types of Retinal Degeneration. This is noteworthy in and of itself, given that using hESC-derived cells for any therapies is a nascent field. I’ve written previously about risks, benefits, and open questions in this field, and studies such as this add volumes to our body of knowledge about stem cell biology. Being able to harness the potential of pluripotent cells which can:
A) differentiate into a functional, specialized cell type
B) integrate into a human organ/tissue without being rejected by the immune system
C) not form tumors and
D) beneficially impact the progression of a degenerative (or, really, any) disease
is a really, really big deal.
Achieving item A above, along would with adequate and successful safety testing in animal models, would be a prerequisite to any clinical trial. Recall that in a Phase I trial, safety and tolerance for various doses are the primary objectives. In a Phase I trial involving Stem Cells, therefore, you’d want to focus mainly on items B and C above. But, as we’ve seen before with Phase I trials, if something really remarkable approaching the realm of ‘D’ happens during the Phase I study, the researchers might be inclined to publish a preliminary report and share the news. The LCA gene replacement study published in 2009 is one such example. So is that also the case with this new Lancet paper? Let’s dive in and see.
Recall, if you will, the title of the article: “Embryonic stem cell trials for macular degeneration: a preliminary report”. Fairly understated, wouldn’t you say? Well, this is a stodgy medical journal, after all. So you can hardly blame the media for gussying up the story just a bit with headlines such as “Giving sight to macular degeneration patients , or ”Once they were blind, now they see. Patients treated with cells from human embryo: Controversial medical breakthrough restores vision – now doctors hope to repeat the success”
This would obviously be fantastic news if it were true, but let’s tune out the sensational journalism for a moment and establish what the Lancet article actually reports.
The Study Design
The paper in question is actually reporting preliminary results from two simultaneously conducted Phase I trials. Both trials are using Retinal Pigmented Epithelial (RPE) cells derived from hESC lines as a potential treatment for two different types of retinal degeneration: Age Related Macular Degeneration (ARMD) and Stargardt’s Macular Dystrophy. Blindness in both of these conditions results from defects in the RPE, which causes the photoreceptors to degenerate, thus it makes good sense to attempt to replace the defective cell type in an attempt to ultimately rescue the photoreceptor loss.
 |
| Differentiated RFE cells in culture. From Schwartz et al., 2012 |
The Results
The Lancet paper reports results from two patients—one from each of these Phase I trials—who were followed for four months after their procedures. The first half of the paper’s results describes the preparation of the RPE cells and safety testing conducted in mice. The patient data dealt principally with the fact that neither of these subjects, both females with significant loss of central vision typical of end-stage macular degeneration, experienced any adverse reactions to the treatment. No swelling, no pain, no abnormal cell growth, no immune response to the implanted cells. All good news.
The authors then go on to report the findings that got the International News all churned up. Both of these patients—again, each with a different type of severe macular degeneration—reported improvement in their vision after the procedure. What kind of improvement, exactly?
The ARMD patient was able to read more letters on the chart in the weeks following her treatment, which must have been tremendously exciting for her. These results must be interpreted with some caution, however, because this is a pretty subjective test, for one, and there were no other clinical findings to support the improvement—no changes were detected in her retina when compared to her preoperative condition. Further confounding these results was the fact that this patient experienced an improvement in her ‘control’ eye as well—the one which received no treatment at all. Thus, it is a possibility that at least some of her perceived improvement was derived from the placebo effect of having had surgery and postoperative care.
Reported improvement in the Stargardt’s subject were less ambiguous, and could be verified by clinical examination in addition to the subjective visual perceptions of the patient. Prior to the procedure, this woman’s vision was so diminished that she could perceive a hand being waved in front of her, but could not make out details like individual fingers or letters on an eye chart. Several weeks after the procedure she began to be increasingly able to count individual fingers. She also reported an improved color perception after the transplant. Encouragingly, tests on her retina revealed that the implanted RPE cells had integrated into her retina, ‘filling in’ a portion of that cell layer which had previously been destroyed by the disease. The Stargardt patient’s improvements were limited to her operated eye.
The Bottom Line
It’s really cool stuff, on several levels. This is the first time that a cell population derived from hESCs has been successfully used in a clinical trial. This is also the first time that RPE cells have been successfully introduced into a diseased human eye. Previous attempts at RPE replacements, using mature adult or fetal RPE cells, have been made in ARMD patients but have been unsuccessful, so it’s very exciting preliminary data on that front. And of course the fact that visual function improvements seem to be occurring in these subjects is more important still, particularly considering the advanced stages of their respected diseases. Indeed, once the procedure is optimized through these trials, the treatment is actually intended for patients with less advanced MD, in order to prevent vision loss, rather than aiming to restore it. End-stage patients were chosen for these Phase I trials precisely because their vision is already so bad it’s unlikely that it could be further compromised if something were to go wrong with the procedure. Preliminary though these results may be, it would be wonderful if the recipient pool of the developed treatment could be expanded to include patients with more severe manifestations of these types of diseases.
But….
It’s really preliminary. This is two patients we’re talking about, and while we can celebrate the fact that they came through the procedure without any adverse side effects (so far) AND some apparent improvements in their vision, it is too soon to apply these results to a larger population. This preliminary report allows us to be cautiously optimistic that the additional results forthcoming from these studies will be consistent with the promising findings from these two test cases. It does NOT allow us to declare that ARMD and/or Stargardt’s has been “cured” by stem cells, or even that sight/vision has been “restored”, as the headlines declare.
What this means for Usher patients
Directly and immediately, nothing. Usher syndrome is not a disease of the RPE, so this particular cell line would not likely be effective in forestalling photoreceptor degeneration in USH patients. In the longer term, though, I think we can be encouraged by the fact that the generation of these cells from hESCs has been far more successful than any other cell-based treatment to date. In time, other cell types could be procured in a similar manner and, potentially, treatments that could benefit Usher patients could be developed.
What it also means is a modicum of caution. Given the buzz that this story has created, it would not be surprising if some charlatans around the world used the early success of this trial to sell ‘stem cell’ treatments for all sorts of degenerative conditions for which there currently are no cures. Don’t believe it. We’re not there yet. But we’re working on it. Be encouraged.
Addendum
2/27/12 - After this article was posted, a reader sent this link in the blog comments. It's such a great talk we wanted to give it more visibility. It's a talk from a recent stem cell research conference, given by the lead investigator on the stem cell therapy referenced in this post.
The presentation is geared to a professional audience, so it might be a bit dense with jargon in parts, but well worth the 20 minutes. Enjoy! - Jennifer
Reference: Steven D Schwartz, Jean-Pierre Hubschman, Gad Heilwell, Valentina Franco-Cardenas, Carolyn K Pan, Rosaleen M Ostrick, Edmund Mickunas, Roger Gay, Irina Klimanskaya, Robert Lanza. Embryonic stem cell trials for macular degeneration: a preliminary report. The Lancet published online January 23, 2012; DOI: 10.1016/S0140-6736(12)60028-2.
Tuesday, February 14, 2012
The Bella Chronicles, Part IV: Middle Age
by Mark Dunning
My hearing isn’t as good, either. I find myself turning up the volume on the TV or the radio. It’s not all the time, just certain voices or sounds. Some frequencies aren’t as clear.
And I have come to love a good nap. Actually, that’s not true. I’ve always loved a good nap. No, no. I’ve come to need a good nap. I just get tired more easily than I once did. A good walk, some yard work, a long day at work, a long drive, or even just some fresh air and I need an hour on the couch. I’ve started to plan my weekends this way. If I do X in the morning, I’m going to be too tired to do Y in the afternoon unless I get a nap.
I think I noticed middle age the most in sports. For most of my life I improved at sports. At some point in my twenties I plateaued physically, but my ever improving knowledge of the games meant that I still played better even if I wasn’t getting faster or stronger. Around thirty-five, though, my body started to decline faster than my mind could improve. I knew what I should be doing but I couldn’t get my body to do it.
I eventually gave up organized sports, but I did not quit because of my declining physical abilities. It was the frustration that got me. I felt like I was disappointing the players who had known me when I was younger. I was no longer meeting their expectations. And I felt embarrassed in front of the players who only knew me when I was older. I wanted to explain to them that I wasn’t always this way. I used to be a better player.
If I sound like I’m whining about this, I’m not. It’s just part of life. All my friends are experiencing the same things. Joints ache, bellies bulge, hair recedes. I tell Bella she’s the reason I’m going gray, but it’s not really her. It’s middle age. We complain about it, we joke about it, but we accept it. It happens to everyone.
Usher syndrome, as we know, does not happen to everyone. And unfortunately for a thirteen year old girl, at times it can seem a lot like middle age. Bella has never been big on team sports. She likes to ride horses more than anything. But she used to take gym and this year she does not. The exercises have gotten more challenging and the other kids are bigger. They move faster and throw harder. Suddenly gym is more about avoiding getting hurt for Bella than it about physical fitness. So the other kids go the gym and Bella goes to the library.
The school work is harder, too. There are fewer pictures and more words. The subject matter takes longer to explain. The homework is dense. It’s challenging for everyone, but especially for the kid with Usher. The other kids adapt more quickly. They can hear the teacher and read the materials at the same time. Bella cannot. They can take their own notes. Bella has to focus on the teacher so she can read lips. She gets the notes after class. They can read the photocopied worksheets. Bella needs them enlarged. It’s all just easier for her peers than it is for her.
Bella gets frustrated. The other kids don’t ask for help. The other kids don’t ask the teachers to give them the notes or to repeat what they said or to make second, darker, larger copy of the homework just for them. The teachers expect her to keep up. She feels she is disappointing them. And those new kids, the ones she doesn’t know, she wants to explain to them that she is really just like them. Last year she didn’t need feel like she interrupted class as much. She wants them to know that. She used to be just like them.
All of this is exhausting, of course. Bella is more tired now than she used to be. The other kids keep going, but she’s out of gas. She wants to go ride her horse, but some days she’s just too tired when she gets home. She’s disappointing the riding teacher, too. She’s sure of it. And the homework. There is so much of it now and she’s already so tired. She just wants to sink in to the couch and rest. It didn’t used to be this way. She used to have so much more energy.
It all sounds familiar to me. It’s a lot like middle age. The difference is I knew it was coming. I was a mature adult who had already experienced life. I say things like ‘when I was younger, I could do that.’ But Bella IS younger. She still expects to do be able to do that, whatever that might be. Her expectations are different than mine. I expected to be dealing with this. She did not.
I’ve learned to accept my situation. It’s hard to advise Bella that she should accept hers. She’s too young to be old. She shouldn’t accept her situation, but she does need to adjust. And that starts with advocating for herself, which is what we’ll discuss in the next post.
I’m 43 years old and smack dab in the middle of middle age. I can tell you from experience that middle age stinks. I don’t see as well as I once did. I had the eyes of a hawk when I was younger. Now I need glasses. When I take Bella to one of her frequent ophthalmologist appointments, I have to squint just to read the same lines on the eye chart that she does.
My hearing isn’t as good, either. I find myself turning up the volume on the TV or the radio. It’s not all the time, just certain voices or sounds. Some frequencies aren’t as clear.
And I have come to love a good nap. Actually, that’s not true. I’ve always loved a good nap. No, no. I’ve come to need a good nap. I just get tired more easily than I once did. A good walk, some yard work, a long day at work, a long drive, or even just some fresh air and I need an hour on the couch. I’ve started to plan my weekends this way. If I do X in the morning, I’m going to be too tired to do Y in the afternoon unless I get a nap.
I think I noticed middle age the most in sports. For most of my life I improved at sports. At some point in my twenties I plateaued physically, but my ever improving knowledge of the games meant that I still played better even if I wasn’t getting faster or stronger. Around thirty-five, though, my body started to decline faster than my mind could improve. I knew what I should be doing but I couldn’t get my body to do it.
I eventually gave up organized sports, but I did not quit because of my declining physical abilities. It was the frustration that got me. I felt like I was disappointing the players who had known me when I was younger. I was no longer meeting their expectations. And I felt embarrassed in front of the players who only knew me when I was older. I wanted to explain to them that I wasn’t always this way. I used to be a better player.
If I sound like I’m whining about this, I’m not. It’s just part of life. All my friends are experiencing the same things. Joints ache, bellies bulge, hair recedes. I tell Bella she’s the reason I’m going gray, but it’s not really her. It’s middle age. We complain about it, we joke about it, but we accept it. It happens to everyone.
Usher syndrome, as we know, does not happen to everyone. And unfortunately for a thirteen year old girl, at times it can seem a lot like middle age. Bella has never been big on team sports. She likes to ride horses more than anything. But she used to take gym and this year she does not. The exercises have gotten more challenging and the other kids are bigger. They move faster and throw harder. Suddenly gym is more about avoiding getting hurt for Bella than it about physical fitness. So the other kids go the gym and Bella goes to the library.
The school work is harder, too. There are fewer pictures and more words. The subject matter takes longer to explain. The homework is dense. It’s challenging for everyone, but especially for the kid with Usher. The other kids adapt more quickly. They can hear the teacher and read the materials at the same time. Bella cannot. They can take their own notes. Bella has to focus on the teacher so she can read lips. She gets the notes after class. They can read the photocopied worksheets. Bella needs them enlarged. It’s all just easier for her peers than it is for her.
Bella gets frustrated. The other kids don’t ask for help. The other kids don’t ask the teachers to give them the notes or to repeat what they said or to make second, darker, larger copy of the homework just for them. The teachers expect her to keep up. She feels she is disappointing them. And those new kids, the ones she doesn’t know, she wants to explain to them that she is really just like them. Last year she didn’t need feel like she interrupted class as much. She wants them to know that. She used to be just like them.
All of this is exhausting, of course. Bella is more tired now than she used to be. The other kids keep going, but she’s out of gas. She wants to go ride her horse, but some days she’s just too tired when she gets home. She’s disappointing the riding teacher, too. She’s sure of it. And the homework. There is so much of it now and she’s already so tired. She just wants to sink in to the couch and rest. It didn’t used to be this way. She used to have so much more energy.
It all sounds familiar to me. It’s a lot like middle age. The difference is I knew it was coming. I was a mature adult who had already experienced life. I say things like ‘when I was younger, I could do that.’ But Bella IS younger. She still expects to do be able to do that, whatever that might be. Her expectations are different than mine. I expected to be dealing with this. She did not.
I’ve learned to accept my situation. It’s hard to advise Bella that she should accept hers. She’s too young to be old. She shouldn’t accept her situation, but she does need to adjust. And that starts with advocating for herself, which is what we’ll discuss in the next post.
Wednesday, February 8, 2012
The Bella Chronicles Part III: A Necessary Evil?
by Mark Dunning
For Usher treatments to be found, someone is going to have to take a risk. Someone with Usher syndrome is going to have to be part of a clinical trial. Someone is going to have to be the first human being ever to try a particular treatment. Oh, it will be tested on animals and the researchers will have vigorously studied it. They would never try it unless they had real hope that it would turn out to be a viable treatment. But the fact remains that until a treatment is tried in a human body, no one knows for sure the result. So for us to find viable treatments for Usher syndrome, someone is going to have to take a great risk.
That someone will not be my daughter Bella. Well, at least I know that someone won’t be Bella before she is an adult. After that, it’s her call. But while it’s my decision, she won’t be participating in a phase I clinical trial. I’ll do a lot to support Usher syndrome research, but that is just a step too far for me.
That is not true for other parents. The first step in a clinical trial is a safety trial. This is done to make sure that there are no unexpected and seriously adverse effects of a treatment. These safety trials are usually done only on consenting adults for obvious reasons. But I have had parents ask me if I would help them pressure researchers to accept their kids in such trials. They want a treatment as soon as possible and they are willing to take the risk. I won’t do it, of course, but they believe their actions are in their child’s best interest. It’s not a step too far for them.
I know other parents who have taken their kids to India, the Dominican, and China in search of treatments that are questionable and very risky. Most of these are not approved by the FDA and in some cases are illegal in the US and Europe. But these parents think the risk is worth it. Again, that’s further than I would go and not something I would ever recommend. (plus it drives Jennifer insane)
There is one risk that we have taken with Bella in trying to find viable treatments. We have willingly had her participate in videos, speak in public forums, and written about her in, ahem, certain blogs. We made the decision to involve her in these things because we feel it is the best way to help her.
Readers of this blog know that I am a vocal advocate of creating an Usher syndrome community. To find treatments for Usher syndrome we need two things: 1) We need to better understand the disease and 2) we need people willing to participate in clinical trials. We just discussed how difficult it can be to find people to participate in clinical trials. You need a large group of people to find those few who are a) willing to participate, b) able to participate, and c) appropriate candidates.
Understanding the disease is no less difficult. Deafblindness carries a stigma and it is a terrifying proposition. Historically, people with Usher syndrome have either kept to themselves or been socially isolated by the disease. We need the opposite. We need them to be visible and open in discussing the disease. We need them to take them time to visit with researchers and answer all manner of personal questions and take all manner of tests so we can better understand their condition and how their lifestyle may have contributed to it.
We also need them to talk publicly about their condition because that helps bring others forward. It raises awareness. Usher syndrome is a rare disease. To find viable treatments, we’re going to need everyone to participate. Hearing from others with the disease is what draws people out. Seeing the success of others makes the future less frightening.
I write about this a lot, but we also walk the walk, as it were. We organize family conferences and Bella not only attends, but sometimes she participates in family panels. She meets other people with Usher, sees adults with canes, sees parents cry, hears about fears and difficulties. She participates in promotional videos and has to talk to her Dad when he’s writing some silly blog post about her.
There are benefits to this, of course. She gets greeted warmly by people who she doesn’t know but who know a lot about her. She gets invited to visit people in exotic places, people she has never met but who have heard her speak or read about her and been inspired by her. It’s nice to be an inspiration.
But there is a cost to this as well. Bella is thirteen years old and knows more about Usher syndrome that just about any other thirteen year old out there. She knows adult things about Usher syndrome. She knows people with a cane and a dog. She has seen parents cry and adults tear up. She wonders if she’ll be able to drive. This is a lot for a thirteen year old girl to process.
And being told you are an inspiration and feeling like one are two different things, especially for a gangly adolescent struggling to pupate from a child to an adult. Teenagers make LOTS of mistakes. They do unintentionally foolish things and they are very aware of how they are perceived. It is hard to be a teenager. It is harder to be a teenager with Usher syndrome. It is nearly unbearable to be a teenager with Usher syndrome who knows an entire community is watching you.
We’ve had a lot of team meetings with Bella’s teachers, guidance counsellors, and myriad others who support her in school this year. We discussed the pressure Bella feels being one of the faces of Usher syndrome, of knowing all that she knows about the disease. One of the counsellors said, “I can’t imagine how hard that must be for a thirteen year old girl to deal with.”
I felt like a terrible parent. Worse still, I felt like a fraud. I advocate sharing as much about Usher syndrome with your children as they can handle. I have written in this blog about what to tell your child about Usher syndrome. That post was picked up by a number of different mediums and reprinted in a couple of other languages. And there I was, discussing my daughter’s problems in school, and realizing that I was a contributor to the problem. Not only that, but I may have just given terrible advice to a lot of others. It’s bad enough messing up your own kid, but to think you may have messed up the lives of others, too, is an awful feeling.
On the ride home I talked to Bella about all of this. The quotes are paraphrases as I wasn't taking notes at the time, but I remember the conversation well and confirmed the message with Bella. I asked her about the public speaking and the videos. She’s thirteen years old, I said. She can make her own decisions about participating from now on. She smiled and said “I like doing the videos. My friends are all jealous that I get to be on camera. And I like to talk in front of people. I like to make them laugh and make them feel better.” Which, of course, made me feel better. “I was just tired in San Diego,” she continued, “And I was nervous. I didn’t think I did a very good job. I don’t like feeling that way.”
Then I asked her about the family conferences. She’s met adults with canes. She’s heard a lot of people talk about their fears. Does she worry about going blind? “Sometimes,” she said, “but I don’t really think about it. I make friends at the conferences. I hear all the things you are doing. I know you are doing everything you can to help me. I know you’ll take care of me no matter what.”
And with that, a weight lifted. I might still be a fraud on many levels, but I wasn’t wrong about talking to your child about Usher syndrome. Talking about it was a comfort to Bella. It was the right thing to do.
I’m still uncomfortable using Bella to raise awareness about Usher syndrome. Well, maybe ‘using’ her isn’t the right term any longer. It may have been at one time, when we chose to have her participate in videos and we chose to have her attend family conferences and we chose to have her speak in front of people. But now she’s thirteen and in many ways she’s grown up. She’s taller than my wife and she’s braver than me. She’ll continue to be involved in raising awareness about Usher syndrome, but from now on, she’ll be a partner in determining the risk. She’ll be involved in making the decisions.
Then Bella will decide how far she’ll go.
For Usher treatments to be found, someone is going to have to take a risk. Someone with Usher syndrome is going to have to be part of a clinical trial. Someone is going to have to be the first human being ever to try a particular treatment. Oh, it will be tested on animals and the researchers will have vigorously studied it. They would never try it unless they had real hope that it would turn out to be a viable treatment. But the fact remains that until a treatment is tried in a human body, no one knows for sure the result. So for us to find viable treatments for Usher syndrome, someone is going to have to take a great risk.
That someone will not be my daughter Bella. Well, at least I know that someone won’t be Bella before she is an adult. After that, it’s her call. But while it’s my decision, she won’t be participating in a phase I clinical trial. I’ll do a lot to support Usher syndrome research, but that is just a step too far for me.
That is not true for other parents. The first step in a clinical trial is a safety trial. This is done to make sure that there are no unexpected and seriously adverse effects of a treatment. These safety trials are usually done only on consenting adults for obvious reasons. But I have had parents ask me if I would help them pressure researchers to accept their kids in such trials. They want a treatment as soon as possible and they are willing to take the risk. I won’t do it, of course, but they believe their actions are in their child’s best interest. It’s not a step too far for them.
I know other parents who have taken their kids to India, the Dominican, and China in search of treatments that are questionable and very risky. Most of these are not approved by the FDA and in some cases are illegal in the US and Europe. But these parents think the risk is worth it. Again, that’s further than I would go and not something I would ever recommend. (plus it drives Jennifer insane)
There is one risk that we have taken with Bella in trying to find viable treatments. We have willingly had her participate in videos, speak in public forums, and written about her in, ahem, certain blogs. We made the decision to involve her in these things because we feel it is the best way to help her.
Readers of this blog know that I am a vocal advocate of creating an Usher syndrome community. To find treatments for Usher syndrome we need two things: 1) We need to better understand the disease and 2) we need people willing to participate in clinical trials. We just discussed how difficult it can be to find people to participate in clinical trials. You need a large group of people to find those few who are a) willing to participate, b) able to participate, and c) appropriate candidates.
Understanding the disease is no less difficult. Deafblindness carries a stigma and it is a terrifying proposition. Historically, people with Usher syndrome have either kept to themselves or been socially isolated by the disease. We need the opposite. We need them to be visible and open in discussing the disease. We need them to take them time to visit with researchers and answer all manner of personal questions and take all manner of tests so we can better understand their condition and how their lifestyle may have contributed to it.
We also need them to talk publicly about their condition because that helps bring others forward. It raises awareness. Usher syndrome is a rare disease. To find viable treatments, we’re going to need everyone to participate. Hearing from others with the disease is what draws people out. Seeing the success of others makes the future less frightening.
I write about this a lot, but we also walk the walk, as it were. We organize family conferences and Bella not only attends, but sometimes she participates in family panels. She meets other people with Usher, sees adults with canes, sees parents cry, hears about fears and difficulties. She participates in promotional videos and has to talk to her Dad when he’s writing some silly blog post about her.
There are benefits to this, of course. She gets greeted warmly by people who she doesn’t know but who know a lot about her. She gets invited to visit people in exotic places, people she has never met but who have heard her speak or read about her and been inspired by her. It’s nice to be an inspiration.
But there is a cost to this as well. Bella is thirteen years old and knows more about Usher syndrome that just about any other thirteen year old out there. She knows adult things about Usher syndrome. She knows people with a cane and a dog. She has seen parents cry and adults tear up. She wonders if she’ll be able to drive. This is a lot for a thirteen year old girl to process.
And being told you are an inspiration and feeling like one are two different things, especially for a gangly adolescent struggling to pupate from a child to an adult. Teenagers make LOTS of mistakes. They do unintentionally foolish things and they are very aware of how they are perceived. It is hard to be a teenager. It is harder to be a teenager with Usher syndrome. It is nearly unbearable to be a teenager with Usher syndrome who knows an entire community is watching you.
We’ve had a lot of team meetings with Bella’s teachers, guidance counsellors, and myriad others who support her in school this year. We discussed the pressure Bella feels being one of the faces of Usher syndrome, of knowing all that she knows about the disease. One of the counsellors said, “I can’t imagine how hard that must be for a thirteen year old girl to deal with.”
I felt like a terrible parent. Worse still, I felt like a fraud. I advocate sharing as much about Usher syndrome with your children as they can handle. I have written in this blog about what to tell your child about Usher syndrome. That post was picked up by a number of different mediums and reprinted in a couple of other languages. And there I was, discussing my daughter’s problems in school, and realizing that I was a contributor to the problem. Not only that, but I may have just given terrible advice to a lot of others. It’s bad enough messing up your own kid, but to think you may have messed up the lives of others, too, is an awful feeling.
On the ride home I talked to Bella about all of this. The quotes are paraphrases as I wasn't taking notes at the time, but I remember the conversation well and confirmed the message with Bella. I asked her about the public speaking and the videos. She’s thirteen years old, I said. She can make her own decisions about participating from now on. She smiled and said “I like doing the videos. My friends are all jealous that I get to be on camera. And I like to talk in front of people. I like to make them laugh and make them feel better.” Which, of course, made me feel better. “I was just tired in San Diego,” she continued, “And I was nervous. I didn’t think I did a very good job. I don’t like feeling that way.”
Then I asked her about the family conferences. She’s met adults with canes. She’s heard a lot of people talk about their fears. Does she worry about going blind? “Sometimes,” she said, “but I don’t really think about it. I make friends at the conferences. I hear all the things you are doing. I know you are doing everything you can to help me. I know you’ll take care of me no matter what.”
And with that, a weight lifted. I might still be a fraud on many levels, but I wasn’t wrong about talking to your child about Usher syndrome. Talking about it was a comfort to Bella. It was the right thing to do.
I’m still uncomfortable using Bella to raise awareness about Usher syndrome. Well, maybe ‘using’ her isn’t the right term any longer. It may have been at one time, when we chose to have her participate in videos and we chose to have her attend family conferences and we chose to have her speak in front of people. But now she’s thirteen and in many ways she’s grown up. She’s taller than my wife and she’s braver than me. She’ll continue to be involved in raising awareness about Usher syndrome, but from now on, she’ll be a partner in determining the risk. She’ll be involved in making the decisions.
Then Bella will decide how far she’ll go.
Monday, January 30, 2012
Usher syndrome part IV: Clinical management and research directions
by Jennifer Phillips, Ph.D.
Editor's Note: This is part four in a series. Here are the links to parts one, two, and three. We will return to the story of Bella's struggles in school in the next post.
The current standard of pediatric care mandating that all newborns undergo hearing screenings has been applied successfully throughout the industrialized world. Early identification of hearing impairments gives valuable lead-time to parents and health care providers during which they can plan medical and educational interventions to improve the child’s development, acquisition of language skills, and general quality of life.
Some percentage of children born with hearing loss have Usher syndrome. Until fairly recently, a diagnosis of Usher syndrome as distinct from various forms of congenital hearing impairment was not made until the onset of retinal degeneration was clinically documented—usually years after birth. The considerable number of genes involved made genetic screening impractical with the methods used up until the last few years, so unless there was a family or community history that could shorten the list of targets by implicating a particular Usher gene or subtype, there just wasn’t enough data to proceed.
Considering that educational and medical intervention designed to impact a deaf or hearing-impaired child’s cognitive and social development vary considerably based on whether the child in question is expected to lose his or her vision later in life, an earlier diagnosis of Usher syndrome has been a critical research goal ever since the breadth of the Usher gene list has been known. The most impacting diagnostic advance in the past decade, with respect to earlier identification of Usher children, has been gene chip screening. With this technology, the patient’s DNA can be screened against a microarray of human genes known to cause deafness (and/or Usher syndrome) when mutated, and variances in the DNA sequence of any screened gene would be detected and analyzed. While groundbreaking, there are still some limitations in the availability of this analysis, although hopefully that is a short term problem. A more pervasive problem—ultimately solvable, but on a much more protracted timeline—is the fact that we still can’t screen for everything. The genes on the chip usually represent the most common mutations, so if a patient has a rare or unmapped type of USH, it won’t be caught by this assay. Searching for new genes, and new variants of known genes to add to the list is an important focus of ongoing research. Developing improved methods of early screening for hereditary vision defects is another.
In spite of the considerable amount of information about the biological cause and clinical progression of Usher syndrome obtained over the past 10 years, there are, as of yet, no treatments available based on the molecular underpinnings of the disease. Following the diagnosis of hearing impairment in an infant or child, the parents may consider hearing aids or, in cases of profound hearing loss, as is common in most Usher type I patients, a cochlear implant. The timing of the installation of these devices is critical, as speech development can be significantly impacted if the child does not begin to hear and reproduce spoken sounds in the first year or two of life. Obviously, early diagnosis is critical to the success of this intervention.
In cases where hair cells are severely affected by disease, traditional hearing aids, which merely amplify sound, are ineffective. Cochlear implants are surgically placed devices that can substitute to some degree for defective hair cells. An implanted processor converts the sound signals it receives into electrical impulses and transmits them directly to the auditory nerve, via wires threaded through the cochlea, basically fulfilling the role of the missing or defective auditory hair cells. Here’s a short video of the placement and mechanism of action of this device:
And here is a link that contains several audio files simulating how speech might sound through a cochlear implant.
There is currently no treatment for the vision loss suffered in Usher patients. The first sign of a vision problem usually occurs when patients report difficulty seeing at night—a symptom of rod photoreceptor loss in the periphery of the eye. Degeneration of the remaining photoreceptors usually occurs from the periphery inward, resulting in an increasingly restricted visual field. The rate of retinal cell death is monitored through regular ophthalmological examinations, and although some physicians recommend dietary supplements in an effort to slow the progression of photoreceptor degeneration, there are no targeted therapies, either preventative or curative, available.
Currently, the most tractable possibility of a treatment for the retinal disorder lies in gene replacement therapy. There have been encouraging results using viral vectors to deliver functional copies of genes into retinal cells of mouse models and of humans in research trials (just type “gene therapy” into the Usher Blog’s search engine to read about some recent examples). The use of nanoparticles as a delivery system should be another fruitful avenue of research. The slow, progressive nature of the retinal degeneration in Usher patients lends itself to the application of such treatments. In principle, an effective therapy initiated early enough could begin rescuing photoreceptors from dysfunction and eventual death prior to the onset significant vision loss, further underscoring the importance of developing methods for early diagnosis.
Ongoing research into where and how the Usher proteins function in auditory and visual cells will be important in determining the optimal target for gene replacement therapy, and animal models of the disease will continue to be indispensible both for basic study of the molecular and cellular physiology of Usher syndrome as well as for the testing of new therapies in preparation for clinical trials. We will continue to report on the latest developments in this research here on the Usher Blog as results come to light.
Editor's Note: This is part four in a series. Here are the links to parts one, two, and three. We will return to the story of Bella's struggles in school in the next post.
The current standard of pediatric care mandating that all newborns undergo hearing screenings has been applied successfully throughout the industrialized world. Early identification of hearing impairments gives valuable lead-time to parents and health care providers during which they can plan medical and educational interventions to improve the child’s development, acquisition of language skills, and general quality of life.
Some percentage of children born with hearing loss have Usher syndrome. Until fairly recently, a diagnosis of Usher syndrome as distinct from various forms of congenital hearing impairment was not made until the onset of retinal degeneration was clinically documented—usually years after birth. The considerable number of genes involved made genetic screening impractical with the methods used up until the last few years, so unless there was a family or community history that could shorten the list of targets by implicating a particular Usher gene or subtype, there just wasn’t enough data to proceed.
Considering that educational and medical intervention designed to impact a deaf or hearing-impaired child’s cognitive and social development vary considerably based on whether the child in question is expected to lose his or her vision later in life, an earlier diagnosis of Usher syndrome has been a critical research goal ever since the breadth of the Usher gene list has been known. The most impacting diagnostic advance in the past decade, with respect to earlier identification of Usher children, has been gene chip screening. With this technology, the patient’s DNA can be screened against a microarray of human genes known to cause deafness (and/or Usher syndrome) when mutated, and variances in the DNA sequence of any screened gene would be detected and analyzed. While groundbreaking, there are still some limitations in the availability of this analysis, although hopefully that is a short term problem. A more pervasive problem—ultimately solvable, but on a much more protracted timeline—is the fact that we still can’t screen for everything. The genes on the chip usually represent the most common mutations, so if a patient has a rare or unmapped type of USH, it won’t be caught by this assay. Searching for new genes, and new variants of known genes to add to the list is an important focus of ongoing research. Developing improved methods of early screening for hereditary vision defects is another.
In spite of the considerable amount of information about the biological cause and clinical progression of Usher syndrome obtained over the past 10 years, there are, as of yet, no treatments available based on the molecular underpinnings of the disease. Following the diagnosis of hearing impairment in an infant or child, the parents may consider hearing aids or, in cases of profound hearing loss, as is common in most Usher type I patients, a cochlear implant. The timing of the installation of these devices is critical, as speech development can be significantly impacted if the child does not begin to hear and reproduce spoken sounds in the first year or two of life. Obviously, early diagnosis is critical to the success of this intervention.
In cases where hair cells are severely affected by disease, traditional hearing aids, which merely amplify sound, are ineffective. Cochlear implants are surgically placed devices that can substitute to some degree for defective hair cells. An implanted processor converts the sound signals it receives into electrical impulses and transmits them directly to the auditory nerve, via wires threaded through the cochlea, basically fulfilling the role of the missing or defective auditory hair cells. Here’s a short video of the placement and mechanism of action of this device:
And here is a link that contains several audio files simulating how speech might sound through a cochlear implant.
There is currently no treatment for the vision loss suffered in Usher patients. The first sign of a vision problem usually occurs when patients report difficulty seeing at night—a symptom of rod photoreceptor loss in the periphery of the eye. Degeneration of the remaining photoreceptors usually occurs from the periphery inward, resulting in an increasingly restricted visual field. The rate of retinal cell death is monitored through regular ophthalmological examinations, and although some physicians recommend dietary supplements in an effort to slow the progression of photoreceptor degeneration, there are no targeted therapies, either preventative or curative, available.
Currently, the most tractable possibility of a treatment for the retinal disorder lies in gene replacement therapy. There have been encouraging results using viral vectors to deliver functional copies of genes into retinal cells of mouse models and of humans in research trials (just type “gene therapy” into the Usher Blog’s search engine to read about some recent examples). The use of nanoparticles as a delivery system should be another fruitful avenue of research. The slow, progressive nature of the retinal degeneration in Usher patients lends itself to the application of such treatments. In principle, an effective therapy initiated early enough could begin rescuing photoreceptors from dysfunction and eventual death prior to the onset significant vision loss, further underscoring the importance of developing methods for early diagnosis.
Ongoing research into where and how the Usher proteins function in auditory and visual cells will be important in determining the optimal target for gene replacement therapy, and animal models of the disease will continue to be indispensible both for basic study of the molecular and cellular physiology of Usher syndrome as well as for the testing of new therapies in preparation for clinical trials. We will continue to report on the latest developments in this research here on the Usher Blog as results come to light.
Friday, January 13, 2012
The Bella Chronicles, Part II: The Search for the Source
By Mark and Bella Dunning
My daughter, Bella, is thirteen years old and a good student. She has always loved going to school and was one of those kids that teachers described as a joy to have in class. She is even tempered and rarely gets upset.
So why was she crying every day before school?
In the first part of this series I wrote about Bella’s history in detail and why it was such a surprise that she was suddenly having problems in school. In this post, I will write about our search for the source of her problems.
One more quick point: I worked on this post with Bella. I wanted to make sure she was comfortable with the content, and, in truth, it gave me a chance to check in with her. I wanted to make sure we hadn’t missed anything, but also Bella’s answers and her reaction were telling. She liked the idea of having input on the article, so you’ll see her name in the byline. I wrote it but she read it and contributed, too.
So what was the problem?
Our first thought was bullying.
This is Bella’s first year in middle school. Girls are tall and gangly. Boys are getting their first whiff of testosterone. Everyone is self-conscious and some try to point out the faults of others to distract from their own.
Bella would seem an easy target. She is different. Though she is blond and beautiful, she has Usher syndrome. She wears cochlear implants and glasses. She can be clumsy and has problems seeing in low light. The school has made accommodations for her, which is good but which sometimes make her stand out. She doesn’t have to attend gym. She has an FM system in class. There is a hand mike that the kids pass around when they ask questions.
Bella’s middle school is a regional school. Six elementary schools come together there. The grade school kids in Bella’s old school have grown up with Bella. They have been passing the hand mike since before they can remember. There was always a kid in class with cochlear implants. To them it was normal. But to the kids from other schools it had to be different. Were they picking on Bella?
When I asked Bella, she made a face that said the very idea was foreign to her. “The kids treat me like all the other kids,” she said, as if that were expected.
But were they embracing her?
That was the next idea. Was Bella simply lonely? The other kids were not picking on her, but perhaps they were isolating her. She is thirteen and thirteen-year-olds swirl with hormones. All the kids want to be the same and Bella is different. What if she was feeling left out?
Having Usher syndrome can be very hard socially. The hearing loss is the hardest part. Kids miss out on pieces of conversations. They hear the other kids laugh but they missed the joke and it’s awkward to ask to have it repeated. Often they tire of straining to hear the conversation, so they don’t bother any longer. They just laugh when others laugh and agree when others agree all the while slowly glazing over. Everyone gets up to go somewhere they all agreed to go, but the kids with hearing loss stays, not sure of the destination or the invite.
Some kids with hearing loss take the opposite approach. They hijack the conversation. If they are always the one talking then they always know what is being said. But that, too, can be socially isolating. Kids tire of the one man show and make plans that don’t include the kid that talks too much.
In middle school there is no recess. Socializing occurs in the cafeteria. The cafeteria is constructed like a hangar, with high ceilings, tiled floors, metal appliances and folding tables. It’s built for cleaning up after four hundred sloppy students, not for acoustics. Bella couldn’t hear a thing. So the school allowed Bella to have lunch in a conference room next the nurse’s office. They thought Bella could invite a friend or two to lunch so she could be involved in the conversations.
Bella brought nine kids with her the first day. Social isolation was not her problem.
“The nurse’s office is good,” she says, “I can hear everybody. I can see everybody better because in the cafeteria it’s darker. And my friends don’t mind going to the nurse’s office for me. They think it is fun.”
In the background of all of this, the Penn State and Syracuse abuse scandals were playing out. So another possibility was more sinister.
Was Bella being abused?
Let me take a moment to say Bella is NOT being abused and we have no reason to suspect she is. But when Bella was behaving in a way that is completely out of character, we had to consider all sources, no matter how unlikely, especially knowing what we know now about places like the Catholic Church (we’re Catholic) and Penn State. Being deafblind, beautiful, and innocent might make Bella an inviting target.
So we tried to think of places where Bella was alone with adults or older kids. There weren’t many. The only place where she was alone for any significant time was the farm where she rides horses and that didn’t fit the profile at all. Bella wanted to go the farm. It had been Bella’s oasis during her tough time at school. It was the one place she wanted to go more than anywhere else. This was not a kid afraid of abuse. On the contrary, this was her sanctuary.
When we hinted at the farm as a source of concern to Bella, she again thought we were crazy. “Everybody over there knows me and they are all good people,” she said, “They take care of me. They would never hurt me.” The farm remained above reproach in her mind and remains there in ours as well. We’re lucky to have it.
When we further examined her schedule, we couldn’t find any other time or place where even the most opportunistic abuser could have been alone with her.
No, Bella was not being abused.
Maybe it was the opposite. Maybe Bella was in love.
Was Bella having trouble with a boyfriend?
“Daddy!”
Uh, no. She was not. Bella does not have a boyfriend. She is open and honest, if a little shy, about her crushes.
“You’re embarrassing me!” she said.
We asked if maybe there was a boy she liked who didn’t like her back. Or maybe a boy who she thought liked her who later gave her the cold shoulder. We probed every angle of puppy love to see if we could find evidence of a broken heart. But Bella still likes horses more than boys, for the moment. (“Horses or boys?” I asked. “Horses. Not even close.”) That will change at some point. It just hasn’t yet.
A lot will change for Bella in the next few years. She is full on into puberty now. Her body is changing and the hormonal shifts are startling at times. I have been writing for years about my phobia of having a thirteen-year-old daughter. Well, the time has arrived and it is everything I dreaded and nothing like I imagined at the same time.
There was a point this summer where I feared for the life of my ten-year-old son. His mere scent was enough to ignite the normally placid Bella. And, of course, being a younger brother, he took every opportunity to set her off. She was his own personal firecracker and he lit the fuse every chance he got.
On the flip side, Bella has moments of maturity that are just as startling as the moments of fury. You can hold a thoughtful, adult conversation with her now as this post can attest. At a party on New Year’s Eve, she didn’t go downstairs with the kids right away. She sat at the table with the adults until the topics became too boring (which was pretty quick).
So maybe it was just the hormones and puberty themselves that were the cause of Bella’s problems.
Bella has had her highs and lows with her entry into adolescence, but that’s why we ultimately dismissed it as the cause. Puberty is peaks and valleys, yet her problems with school were a constant. She got upset every morning. Hormones may have been contributing, but they were not the cause. The problem was too consistent.
There was one other possibility that we examined and quickly dismissed. Maybe Bella was just faking it. Maybe she had decided that she preferred to be home and had learned that if she made enough of a scene, she could eventually get sent home.
Was Bella purposely crying her way out of school?
As I wrote in the last post, she was clearly feigning illness to get out of class, but that’s not what I mean by purposely crying her way out of school. I don’t mean she was so scared or upset that she didn’t want to go. I mean what if she was NOT really scared or upset but instead had decided she preferred being home and was pretending to be scared and upset so she could stay home and play video games or watch TV or do something else. What if she just wanted to play hooky?
This feels almost crazy to write if you know Bella. It’s completely out of character for her. Indeed, nothing brought a more vigorous denial from Bella than the suggestion she was faking it. She got upset to a degree rarely seen.
“You always make me feel like I’m faking it and I’m NOT,” Bella said, “I like school. I want to learn stuff. I’m not like Jack.”
Jack is her little brother and he agreed with a twinkle in his eye as he played his video game that he would fake it. All kids are different. Bella is a kid with a real problem at school and the suggestion that she didn’t have one sent her to an extreme level of frustration. No, Bella was not faking it just to get out of school.
So what was the problem?
Well, it’s complex but it comes down to two things. Bella does not have a relationship with her teachers this year. It’s not a bad relationship or a good relationship. It’s no relationship. Because she has no connection with her teachers, Bella is uncomfortable advocating for herself. As a result, she has gotten increasingly frustrated at school. Finally it reached the boiling point and spilled over in tears.
Having Usher doesn’t help. She assumes she is missing information. She assumes she is having a harder time than the other kids. These points are probably fair. She does miss information and have a harder time. But she also assumes that means she is doing worse in class than the other kids. She is not. In fact, she’s a solid ‘B’ student which in this school really is above average. Given her situation, that’s quite remarkable. I’ll go in to the advocacy problem more in a future post.
But here’s the second issue. Bella puts a lot of pressure on herself. That is in part because she is very empathetic and wants to please others. It also has its roots back in San Diego at the Classy Awards and right here in the blog. Not many kids have numerous blog posts dedicated to them or are recognized as they walk the streets of a city on the other side of the country. Bella knows that a lot of people look up to her and she doesn’t want to let them down.
“I feel like everyone is disappointed in me,” Bella said, her eyes glistening.
That’s my fault and it will be the subject of the next post.
My daughter, Bella, is thirteen years old and a good student. She has always loved going to school and was one of those kids that teachers described as a joy to have in class. She is even tempered and rarely gets upset.
So why was she crying every day before school?
In the first part of this series I wrote about Bella’s history in detail and why it was such a surprise that she was suddenly having problems in school. In this post, I will write about our search for the source of her problems.
One more quick point: I worked on this post with Bella. I wanted to make sure she was comfortable with the content, and, in truth, it gave me a chance to check in with her. I wanted to make sure we hadn’t missed anything, but also Bella’s answers and her reaction were telling. She liked the idea of having input on the article, so you’ll see her name in the byline. I wrote it but she read it and contributed, too.
So what was the problem?
Our first thought was bullying.
This is Bella’s first year in middle school. Girls are tall and gangly. Boys are getting their first whiff of testosterone. Everyone is self-conscious and some try to point out the faults of others to distract from their own.
Bella would seem an easy target. She is different. Though she is blond and beautiful, she has Usher syndrome. She wears cochlear implants and glasses. She can be clumsy and has problems seeing in low light. The school has made accommodations for her, which is good but which sometimes make her stand out. She doesn’t have to attend gym. She has an FM system in class. There is a hand mike that the kids pass around when they ask questions.
Bella’s middle school is a regional school. Six elementary schools come together there. The grade school kids in Bella’s old school have grown up with Bella. They have been passing the hand mike since before they can remember. There was always a kid in class with cochlear implants. To them it was normal. But to the kids from other schools it had to be different. Were they picking on Bella?
When I asked Bella, she made a face that said the very idea was foreign to her. “The kids treat me like all the other kids,” she said, as if that were expected.
But were they embracing her?
That was the next idea. Was Bella simply lonely? The other kids were not picking on her, but perhaps they were isolating her. She is thirteen and thirteen-year-olds swirl with hormones. All the kids want to be the same and Bella is different. What if she was feeling left out?
Having Usher syndrome can be very hard socially. The hearing loss is the hardest part. Kids miss out on pieces of conversations. They hear the other kids laugh but they missed the joke and it’s awkward to ask to have it repeated. Often they tire of straining to hear the conversation, so they don’t bother any longer. They just laugh when others laugh and agree when others agree all the while slowly glazing over. Everyone gets up to go somewhere they all agreed to go, but the kids with hearing loss stays, not sure of the destination or the invite.
Some kids with hearing loss take the opposite approach. They hijack the conversation. If they are always the one talking then they always know what is being said. But that, too, can be socially isolating. Kids tire of the one man show and make plans that don’t include the kid that talks too much.
In middle school there is no recess. Socializing occurs in the cafeteria. The cafeteria is constructed like a hangar, with high ceilings, tiled floors, metal appliances and folding tables. It’s built for cleaning up after four hundred sloppy students, not for acoustics. Bella couldn’t hear a thing. So the school allowed Bella to have lunch in a conference room next the nurse’s office. They thought Bella could invite a friend or two to lunch so she could be involved in the conversations.
Bella brought nine kids with her the first day. Social isolation was not her problem.
“The nurse’s office is good,” she says, “I can hear everybody. I can see everybody better because in the cafeteria it’s darker. And my friends don’t mind going to the nurse’s office for me. They think it is fun.”
In the background of all of this, the Penn State and Syracuse abuse scandals were playing out. So another possibility was more sinister.
Was Bella being abused?
Let me take a moment to say Bella is NOT being abused and we have no reason to suspect she is. But when Bella was behaving in a way that is completely out of character, we had to consider all sources, no matter how unlikely, especially knowing what we know now about places like the Catholic Church (we’re Catholic) and Penn State. Being deafblind, beautiful, and innocent might make Bella an inviting target.
So we tried to think of places where Bella was alone with adults or older kids. There weren’t many. The only place where she was alone for any significant time was the farm where she rides horses and that didn’t fit the profile at all. Bella wanted to go the farm. It had been Bella’s oasis during her tough time at school. It was the one place she wanted to go more than anywhere else. This was not a kid afraid of abuse. On the contrary, this was her sanctuary.
When we hinted at the farm as a source of concern to Bella, she again thought we were crazy. “Everybody over there knows me and they are all good people,” she said, “They take care of me. They would never hurt me.” The farm remained above reproach in her mind and remains there in ours as well. We’re lucky to have it.
When we further examined her schedule, we couldn’t find any other time or place where even the most opportunistic abuser could have been alone with her.
No, Bella was not being abused.
Maybe it was the opposite. Maybe Bella was in love.
Was Bella having trouble with a boyfriend?
“Daddy!”
Uh, no. She was not. Bella does not have a boyfriend. She is open and honest, if a little shy, about her crushes.
“You’re embarrassing me!” she said.
We asked if maybe there was a boy she liked who didn’t like her back. Or maybe a boy who she thought liked her who later gave her the cold shoulder. We probed every angle of puppy love to see if we could find evidence of a broken heart. But Bella still likes horses more than boys, for the moment. (“Horses or boys?” I asked. “Horses. Not even close.”) That will change at some point. It just hasn’t yet.
A lot will change for Bella in the next few years. She is full on into puberty now. Her body is changing and the hormonal shifts are startling at times. I have been writing for years about my phobia of having a thirteen-year-old daughter. Well, the time has arrived and it is everything I dreaded and nothing like I imagined at the same time.
There was a point this summer where I feared for the life of my ten-year-old son. His mere scent was enough to ignite the normally placid Bella. And, of course, being a younger brother, he took every opportunity to set her off. She was his own personal firecracker and he lit the fuse every chance he got.
On the flip side, Bella has moments of maturity that are just as startling as the moments of fury. You can hold a thoughtful, adult conversation with her now as this post can attest. At a party on New Year’s Eve, she didn’t go downstairs with the kids right away. She sat at the table with the adults until the topics became too boring (which was pretty quick).
So maybe it was just the hormones and puberty themselves that were the cause of Bella’s problems.
Bella has had her highs and lows with her entry into adolescence, but that’s why we ultimately dismissed it as the cause. Puberty is peaks and valleys, yet her problems with school were a constant. She got upset every morning. Hormones may have been contributing, but they were not the cause. The problem was too consistent.
There was one other possibility that we examined and quickly dismissed. Maybe Bella was just faking it. Maybe she had decided that she preferred to be home and had learned that if she made enough of a scene, she could eventually get sent home.
Was Bella purposely crying her way out of school?
As I wrote in the last post, she was clearly feigning illness to get out of class, but that’s not what I mean by purposely crying her way out of school. I don’t mean she was so scared or upset that she didn’t want to go. I mean what if she was NOT really scared or upset but instead had decided she preferred being home and was pretending to be scared and upset so she could stay home and play video games or watch TV or do something else. What if she just wanted to play hooky?
This feels almost crazy to write if you know Bella. It’s completely out of character for her. Indeed, nothing brought a more vigorous denial from Bella than the suggestion she was faking it. She got upset to a degree rarely seen.
“You always make me feel like I’m faking it and I’m NOT,” Bella said, “I like school. I want to learn stuff. I’m not like Jack.”
Jack is her little brother and he agreed with a twinkle in his eye as he played his video game that he would fake it. All kids are different. Bella is a kid with a real problem at school and the suggestion that she didn’t have one sent her to an extreme level of frustration. No, Bella was not faking it just to get out of school.
So what was the problem?
Well, it’s complex but it comes down to two things. Bella does not have a relationship with her teachers this year. It’s not a bad relationship or a good relationship. It’s no relationship. Because she has no connection with her teachers, Bella is uncomfortable advocating for herself. As a result, she has gotten increasingly frustrated at school. Finally it reached the boiling point and spilled over in tears.
Having Usher doesn’t help. She assumes she is missing information. She assumes she is having a harder time than the other kids. These points are probably fair. She does miss information and have a harder time. But she also assumes that means she is doing worse in class than the other kids. She is not. In fact, she’s a solid ‘B’ student which in this school really is above average. Given her situation, that’s quite remarkable. I’ll go in to the advocacy problem more in a future post.
But here’s the second issue. Bella puts a lot of pressure on herself. That is in part because she is very empathetic and wants to please others. It also has its roots back in San Diego at the Classy Awards and right here in the blog. Not many kids have numerous blog posts dedicated to them or are recognized as they walk the streets of a city on the other side of the country. Bella knows that a lot of people look up to her and she doesn’t want to let them down.
“I feel like everyone is disappointed in me,” Bella said, her eyes glistening.
That’s my fault and it will be the subject of the next post.
Thursday, January 5, 2012
The Bella Chronicles, Part I: The Symptoms
by Mark Dunning
I haven’t been very active in writing for this blog recently. There are a lot of reasons involved, but the biggest has been my daughter, Bella. She’s been having a tough time. I have spent a good amount of time trying to help her, which is part of the reason I have not written lately. But her problems have also shaken my confidence considerably. It’s hard to feel worthy of sharing your knowledge about Usher syndrome and parenting when you feel like you are doing a lousy job.
Bella’s life is a frequent topic in this blog, in large part because without her, there is not blog. But she also provides very relevant subject matter. She is, in a lot of ways, a success story. Her vision hasn’t changed noticeably in several years. Her grades are on par with her hearing peers. She has lots of friends. She is a model Usher kid. It seems that everything is going great.
Except, it isn’t.
Until recently, Bella cried every day before she went to school this year. Every day. When she was in school, she had trouble staying in class. She has been to the nurse’s office 50+ times this year. This is completely out of character for her and extremely puzzling to all that know her. Clearly, something has gone wrong.
Over the next several posts I want to take you through the whole story because I think it will be valuable for other parents to hear it. You can learn from what we did right and what we did wrong. But let me set your mind at ease up front. The source of Bella’s problems at school are nothing sinister. There is no abuse or bullying or anything untoward. She’s just a 13 year old girl going in to middle school who happens to have Usher syndrome. That’s enough of a reason for her to have a hard time in school and that’s the point.
Bella attends a mainstream public middle school. She is profoundly deaf, but she has two cochlear implants. She understands sign language, but has chosen to use spoken English primarily for communication. She speaks nearly flawlessly, with no deaf accent, though she does still struggle with some words (which her little brother takes great joy in pointing out).
Bella has always loved school. She has been popular with the other kids, active socially, and a solid ‘B’ student. She rarely complains about homework and has always been quick to advocate for herself. Her situation has required some accommodations, of course. She still attends speech therapy sessions in school, though it is mostly for vocabulary preview at this point. Given her vision and balance issues, she does not attend gym. She rides horses regularly so we are not worried about her fitness. She uses the period when she would have had gym for either speech therapy or as a study. Often she gets help in the study with material she may not have understood in class.
Socially, Usher syndrome can be isolating at times, but Bella has never had a problem making friends. She has always been comfortable explaining to people that she is deaf and asking them to repeat something she missed. She has friends who are happy to guide her in situations where she has difficulty seeing. The cafeteria can be loud and difficult for a kid with hearing loss, so the school has made an effort to accommodate her socially by offering up a conference room in the nurse’s office for lunch. They expected Bella to invite a friend or two to join her there. Nine kids showed up. Bella is not short of friends.
She has some of the best professionals in the world involved in her education. Honore Weiner and Tracy Evans Luiselli have (sorry ladies) several decades of experience educating kids. Honore is currently the Education Director of the Decibels Foundation and spends her days consulting with multiple school systems on how best to accommodate kids with hearing loss. There’s no one better at what she does. Tracy is the Director of the New England Center Deafblind Project. She has spent her career helping families deal with Usher syndrome, particularly kids in school. Again, there is no one better at what she does.
Honore and Tracy have followed Bella for years and have spent hours working with her teachers to address Bella’s needs. For the most part, the teachers have been very receptive of the advice. Her school seems to be genuinely interested in accommodating her needs. Occasionally the bureaucracy is slow in delivering, but there has been little pushback about giving her what she needs to do well, both in terms of scheduling and technology.
At home, my wife, Julia, and I are actively involved in Bella’s life. Julia works at the Minuteman Arc Early Intervention Program for Children with Hearing Loss so she spends her day working with kids with hearing loss. I’m the Executive Director of the Coalition for Usher Syndrome Research. We have access to most of the world’s experts on the disease. We have many friends with Usher and we work closely with professionals who help kids with Usher in school. So we as parents are well versed in the issues facing a kid with Usher and hearing loss.
Bella herself is well versed in her condition. She has worked with mobility specialists and has been trained on how to advocate for herself, which historically she has done quite well. (Too well at times. She’s a big advocate for herself around the house when it suits her.) Finally, she has attended several Usher Syndrome Family Conferences where she has made many friends and has learned a lot about the condition.
Bella has been actively involved with the Decibels Foundation for many years. Julia and I founded the organization so her involvement was not voluntary, but she seems to have enjoyed it. She is always asking about upcoming events and genuinely likes working with the young kids in the program. As I have written before, her sixth grade class ran an event for the Decibels Foundation last winter for which they received national recognition. Bella was very proud of her class and her friends, but looking back, it was also the first sign of trouble.
The Classy Awards were held in San Diego in early September. We live outside of Boston so we had a long flight. We left on a Thursday so Bella missed two days of school. It was early enough in the year that there was not much content being discussed. It was mostly orientation. She got the homework and was able to finish it on the plane. The missed time seemed unlikely to put her far behind.
The event in San Diego was attended by several hundred people and they all stayed in the same few hotels. So when we walked through the lobby or along the streets in the area, Bella was often recognized by people she had never met. This isn’t all that new to her. As I said, she is actively involved with events for Decibels and is well known in the Usher community. She is used to being greeted by people she has never met before. Still, she was a minor celebrity and I needled her about being famous.
Her reaction was not what I expected. Bella has always been buoyant and even tempered. She doesn’t get rattled and always maintains her sense of humor (well, unless her little brother is involved). But that wasn’t Bella in San Diego. She was not excited about her celebrity or embarrassed by it, the two most logical reactions. She wasn’t overwhelmed, either, though that would be understandable, too. Instead, she just seemed weary, as if she were carrying a great burden.
“I don’t want to be famous,” she said one evening with such sad conviction that I promised her she would never have to attend another event unless she chose to. She’s thirteen, I told her, and old enough to make those decisions.
When we got home, Bella came down with a heavy cold. She missed another couple of days of school. She was probably fighting it in San Diego, so that seemed to explain her weariness. When she was healthy enough to go to school, things figured to go back to normal.
But they didn’t. The school nurse called. Bella was complaining of stomach pains. She was sent home. This is worth noting because Bella gets stepped on by horses and doesn’t cry. Bella didn’t blink (literally didn’t blink) when she got her ears pierced earlier this year. She once spent the day gallivanting at her grandmother’s house then collapsed in the car when we took her home. We went straight to the doctor and found out she had pneumonia. In other words, when Bella says she’s sick, it’s usually serious. So the next day when she didn’t want to go to school, we kept her home.
But the following day brought more of the same. We forced her to go to school, but that brought another call from the nurse. You see the pattern. Headaches, stomach aches, earaches, sneezes, sniffles. Anything and everything was a reason to go to the nurse. Or, rather, to leave class.
And every morning she had a reason she couldn’t go to school. Tears flowed. We coaxed her encouraged her, yelled at her, and ordered her. She dropped Spanish because it was too hard (which it probably was). She wanted my wife to drive her to school instead of taking the bus. She wanted to change her schedule. Math was too hard. Social studies was too hard. She said the teachers didn’t like her. She spent hours with the guidance counsellor, missing class time.
Bella, this little girl who had always been a success story, a model for what a child with Usher syndrome could accomplish, was falling apart. Worse still, we couldn’t figure out why. In the next post, I’ll take you through our search for a reason.
I haven’t been very active in writing for this blog recently. There are a lot of reasons involved, but the biggest has been my daughter, Bella. She’s been having a tough time. I have spent a good amount of time trying to help her, which is part of the reason I have not written lately. But her problems have also shaken my confidence considerably. It’s hard to feel worthy of sharing your knowledge about Usher syndrome and parenting when you feel like you are doing a lousy job.
Bella’s life is a frequent topic in this blog, in large part because without her, there is not blog. But she also provides very relevant subject matter. She is, in a lot of ways, a success story. Her vision hasn’t changed noticeably in several years. Her grades are on par with her hearing peers. She has lots of friends. She is a model Usher kid. It seems that everything is going great.
Except, it isn’t.
Until recently, Bella cried every day before she went to school this year. Every day. When she was in school, she had trouble staying in class. She has been to the nurse’s office 50+ times this year. This is completely out of character for her and extremely puzzling to all that know her. Clearly, something has gone wrong.
Over the next several posts I want to take you through the whole story because I think it will be valuable for other parents to hear it. You can learn from what we did right and what we did wrong. But let me set your mind at ease up front. The source of Bella’s problems at school are nothing sinister. There is no abuse or bullying or anything untoward. She’s just a 13 year old girl going in to middle school who happens to have Usher syndrome. That’s enough of a reason for her to have a hard time in school and that’s the point.
Bella attends a mainstream public middle school. She is profoundly deaf, but she has two cochlear implants. She understands sign language, but has chosen to use spoken English primarily for communication. She speaks nearly flawlessly, with no deaf accent, though she does still struggle with some words (which her little brother takes great joy in pointing out).
Bella has always loved school. She has been popular with the other kids, active socially, and a solid ‘B’ student. She rarely complains about homework and has always been quick to advocate for herself. Her situation has required some accommodations, of course. She still attends speech therapy sessions in school, though it is mostly for vocabulary preview at this point. Given her vision and balance issues, she does not attend gym. She rides horses regularly so we are not worried about her fitness. She uses the period when she would have had gym for either speech therapy or as a study. Often she gets help in the study with material she may not have understood in class.
Socially, Usher syndrome can be isolating at times, but Bella has never had a problem making friends. She has always been comfortable explaining to people that she is deaf and asking them to repeat something she missed. She has friends who are happy to guide her in situations where she has difficulty seeing. The cafeteria can be loud and difficult for a kid with hearing loss, so the school has made an effort to accommodate her socially by offering up a conference room in the nurse’s office for lunch. They expected Bella to invite a friend or two to join her there. Nine kids showed up. Bella is not short of friends.
She has some of the best professionals in the world involved in her education. Honore Weiner and Tracy Evans Luiselli have (sorry ladies) several decades of experience educating kids. Honore is currently the Education Director of the Decibels Foundation and spends her days consulting with multiple school systems on how best to accommodate kids with hearing loss. There’s no one better at what she does. Tracy is the Director of the New England Center Deafblind Project. She has spent her career helping families deal with Usher syndrome, particularly kids in school. Again, there is no one better at what she does.
Honore and Tracy have followed Bella for years and have spent hours working with her teachers to address Bella’s needs. For the most part, the teachers have been very receptive of the advice. Her school seems to be genuinely interested in accommodating her needs. Occasionally the bureaucracy is slow in delivering, but there has been little pushback about giving her what she needs to do well, both in terms of scheduling and technology.
At home, my wife, Julia, and I are actively involved in Bella’s life. Julia works at the Minuteman Arc Early Intervention Program for Children with Hearing Loss so she spends her day working with kids with hearing loss. I’m the Executive Director of the Coalition for Usher Syndrome Research. We have access to most of the world’s experts on the disease. We have many friends with Usher and we work closely with professionals who help kids with Usher in school. So we as parents are well versed in the issues facing a kid with Usher and hearing loss.
Bella herself is well versed in her condition. She has worked with mobility specialists and has been trained on how to advocate for herself, which historically she has done quite well. (Too well at times. She’s a big advocate for herself around the house when it suits her.) Finally, she has attended several Usher Syndrome Family Conferences where she has made many friends and has learned a lot about the condition.
Bella has been actively involved with the Decibels Foundation for many years. Julia and I founded the organization so her involvement was not voluntary, but she seems to have enjoyed it. She is always asking about upcoming events and genuinely likes working with the young kids in the program. As I have written before, her sixth grade class ran an event for the Decibels Foundation last winter for which they received national recognition. Bella was very proud of her class and her friends, but looking back, it was also the first sign of trouble.
The Classy Awards were held in San Diego in early September. We live outside of Boston so we had a long flight. We left on a Thursday so Bella missed two days of school. It was early enough in the year that there was not much content being discussed. It was mostly orientation. She got the homework and was able to finish it on the plane. The missed time seemed unlikely to put her far behind.
The event in San Diego was attended by several hundred people and they all stayed in the same few hotels. So when we walked through the lobby or along the streets in the area, Bella was often recognized by people she had never met. This isn’t all that new to her. As I said, she is actively involved with events for Decibels and is well known in the Usher community. She is used to being greeted by people she has never met before. Still, she was a minor celebrity and I needled her about being famous.
Her reaction was not what I expected. Bella has always been buoyant and even tempered. She doesn’t get rattled and always maintains her sense of humor (well, unless her little brother is involved). But that wasn’t Bella in San Diego. She was not excited about her celebrity or embarrassed by it, the two most logical reactions. She wasn’t overwhelmed, either, though that would be understandable, too. Instead, she just seemed weary, as if she were carrying a great burden.
“I don’t want to be famous,” she said one evening with such sad conviction that I promised her she would never have to attend another event unless she chose to. She’s thirteen, I told her, and old enough to make those decisions.
When we got home, Bella came down with a heavy cold. She missed another couple of days of school. She was probably fighting it in San Diego, so that seemed to explain her weariness. When she was healthy enough to go to school, things figured to go back to normal.
But they didn’t. The school nurse called. Bella was complaining of stomach pains. She was sent home. This is worth noting because Bella gets stepped on by horses and doesn’t cry. Bella didn’t blink (literally didn’t blink) when she got her ears pierced earlier this year. She once spent the day gallivanting at her grandmother’s house then collapsed in the car when we took her home. We went straight to the doctor and found out she had pneumonia. In other words, when Bella says she’s sick, it’s usually serious. So the next day when she didn’t want to go to school, we kept her home.
But the following day brought more of the same. We forced her to go to school, but that brought another call from the nurse. You see the pattern. Headaches, stomach aches, earaches, sneezes, sniffles. Anything and everything was a reason to go to the nurse. Or, rather, to leave class.
And every morning she had a reason she couldn’t go to school. Tears flowed. We coaxed her encouraged her, yelled at her, and ordered her. She dropped Spanish because it was too hard (which it probably was). She wanted my wife to drive her to school instead of taking the bus. She wanted to change her schedule. Math was too hard. Social studies was too hard. She said the teachers didn’t like her. She spent hours with the guidance counsellor, missing class time.
Bella, this little girl who had always been a success story, a model for what a child with Usher syndrome could accomplish, was falling apart. Worse still, we couldn’t figure out why. In the next post, I’ll take you through our search for a reason.
Tuesday, December 20, 2011
The Anxiety of Deliverance
A Poem by Mani G. Iyer
Editor's Note: Jennifer and Mark will be back after the holidays. Mani G. Iyer was born and raised in Bombay, India and has lived in the United States since 1985. He is deaf-blind due to Usher Syndrome. He became deaf by the age of 4, night-blind by the age of 12, and now has very little usable vision
A whole fifteen minutes left
what if he shows up early
has the time wrong
left already, after waiting
the classical music wafting
through the waiting room is sombre
let’s get out.
Begin the descent
Be careful
the stairs are not blind-friendly
use the right mobility techniques
remember the instructor’s admonitions
damn it, overstepped the last one,
pause.
A sweet-scented voice’s offer for help
humorously refused
blaming it on the instructor’s ghost
these stairs have treacherous depths
easy, easy, you can’t afford to fall
Ah, some light down below
wait, wait, the rails start one step late
stoop down to touch it
which bloody blind man designed these stairs?
The cane slips
rattles down in flight
panic
hold your lifeline
one sure step at a time
is that sweet-scented lady anywhere near
ah, the bottom at last.
Get down on the knees
not in prayer of gratitude
grope for the cane
finally,the doors to freedom
wait inside
no, go outside
advertise your blindness
close to the door, though,
in case it rains.
The air is invigorating
where is he
he surely can’t miss the cane and the dark glasses
what if he is expecting a wheelchair-bound pickup
make a decision, quick
The watch talks
five more minutes
sounds and voices everywhere
a car door slams
no one is approaching
smell more scents of women
snatches of conversations
boyfriends and vacations,
can’t grab their attentions.
Finally, a man’s attention
ask if he can see a white taxicab around
sorry, none in the vicinity
panic
call the wife or friend,
warn them to get ready
wait for a few more minutes.
Check the time again
one minute late
action required
call the dispatcher
bypass the automaton
speak to a human
frustrating apologies and music
finally the dispatcher
a pronouncement
the driver is on time and is on his way
furtively scan with neck
A minute later,
a voice
“Sir, are you looking for the ride”
“Yes, yes”
a handle of an elbow magically appears
grab it
walk to the gaping car door
plonk into the passenger seat
He ignites the engine
"Was the wait too long?”
“Yes, but I enjoyed some fresh air”
“I am sorry you can’t see, but
it is a beautiful day”.
Editor's Note: Jennifer and Mark will be back after the holidays. Mani G. Iyer was born and raised in Bombay, India and has lived in the United States since 1985. He is deaf-blind due to Usher Syndrome. He became deaf by the age of 4, night-blind by the age of 12, and now has very little usable vision
A whole fifteen minutes left
what if he shows up early
has the time wrong
left already, after waiting
the classical music wafting
through the waiting room is sombre
let’s get out.
Begin the descent
Be careful
the stairs are not blind-friendly
use the right mobility techniques
remember the instructor’s admonitions
damn it, overstepped the last one,
pause.
A sweet-scented voice’s offer for help
humorously refused
blaming it on the instructor’s ghost
these stairs have treacherous depths
easy, easy, you can’t afford to fall
Ah, some light down below
wait, wait, the rails start one step late
stoop down to touch it
which bloody blind man designed these stairs?
The cane slips
rattles down in flight
panic
hold your lifeline
one sure step at a time
is that sweet-scented lady anywhere near
ah, the bottom at last.
Get down on the knees
not in prayer of gratitude
grope for the cane
finally,the doors to freedom
wait inside
no, go outside
advertise your blindness
close to the door, though,
in case it rains.
The air is invigorating
where is he
he surely can’t miss the cane and the dark glasses
what if he is expecting a wheelchair-bound pickup
make a decision, quick
The watch talks
five more minutes
sounds and voices everywhere
a car door slams
no one is approaching
smell more scents of women
snatches of conversations
boyfriends and vacations,
can’t grab their attentions.
Finally, a man’s attention
ask if he can see a white taxicab around
sorry, none in the vicinity
panic
call the wife or friend,
warn them to get ready
wait for a few more minutes.
Check the time again
one minute late
action required
call the dispatcher
bypass the automaton
speak to a human
frustrating apologies and music
finally the dispatcher
a pronouncement
the driver is on time and is on his way
furtively scan with neck
A minute later,
a voice
“Sir, are you looking for the ride”
“Yes, yes”
a handle of an elbow magically appears
grab it
walk to the gaping car door
plonk into the passenger seat
He ignites the engine
"Was the wait too long?”
“Yes, but I enjoyed some fresh air”
“I am sorry you can’t see, but
it is a beautiful day”.
Wednesday, October 19, 2011
The Cane
by Mark Dunning
“The only thing we have to fear is fear itself.” – Franklin Delano Roosevelt
It’s hard to believe that I am afraid of a white folding piece of aluminum, especially when there’s a little rubber ball on the end of it or maybe a tennis ball. Yet the cane scares me and it should scare you, but not for the reasons you think.
I was walking with a friend of mine one warm summer day along the crowded streets of Boston. She held my elbow as we were bumped and jostled by the business people racing to lunch and back. After a minute of excuse me’s and dirty looks, she stopped and unfolded her cane.
“I don’t really need it right now,” she said, “but it clears the streets.”
So it did. The stream of people parted and we walked hassle free. The cane, it turns out, has an unmatched power to divide.
And that’s the problem.
Walk with me for a moment and I’ll explain. See, we want treatments for Usher syndrome. To develop treatments we need lots of researchers doing lots of work. That costs lots of money. The best large funding source out there is the National Institute of Health. The NIH is a governmental agency that, while it is independent of Congress, certainly heads the wishes of the Congress. If enough members of Congress tell NIH to fund a certain project, NIH will fund that project. So for us to get substantial funding for Usher syndrome research from NIH to pay for lots of researchers to do lots of research, we need members of Congress to tell NIH to fund Usher syndrome research.
Members of Congress work for you. You elect them and they act on your behalf. The reason they have not asked NIH for more funding for Usher syndrome research is because we have not done a good enough job of letting them know that we want them to do that. We need everyone with Usher syndrome to work together to encourage Congress to push NIH for Usher syndrome research funding.
Recognizing that fact, we have been working to build an Usher syndrome community. We want to identify everyone with Usher syndrome, educate them on what it will take to find treatments, then enlist their help lobbying Congress for increased NIH funding (among other things). As part of that effort we have developed a Family Network to connect families and have been running annual Family Conferences to further build that Usher syndrome community we so desperately need.
Enter the cane.
Parents of young children fear the cane. Adults who’s vision is still good fear the cane. It’s not the painted aluminum they fear, obviously, but what it represents. To them it is a frightening future of limitations and loneliness. They don’t want to see anyone using a cane because they might glimpse the difficulties ahead. They don’t want to meet anyone using a cane because they might learn how this person was once happy and free and then, when the cane arrived, they turned miserable and downtrodden. The cane, to families not using the cane, is the very symbol of the fear they try so hard to control so they avoid it. They don’t want to know the truth about it because the truth might be even worse than they fear.
People who use a cane know that. They feared the cane themselves. They fought against it and dreaded the time when they would need it. They know that people look at them with their cane and make assumptions about them. They also know that the cane rather than closing doors, often opens them. The cane is a source of mobility and comfort. The cane parts crowds and allays fears. Oh sure, everyone using a cane would rather not have to use one, but given the alternative, it’s a big help. But they understand why people might fear the cane. So they avoid people who don’t use the cane because they either don’t want to upset them or they don’t want to try to explain its benefits to someone near panic.
As I said, the cane has an unmatched power to divide.
We see this all the time with the family network. Families of young children don’t want to be contacted by adults with Usher, adults who might use a cane. Adults who don’t use the cane don’t want to be contacted by adults who do. Adults who do use the cane don’t want to get involved, don’t want to invite tough questions, and don’t want to be treated with gentle fear just because they carry a piece of folding aluminum. Now none of these folks openly say that they don’t want to be contacted. They just don’t join the network or they do join but don’t contact people on the other side of that thin white line.
We see this all the time at family conferences, too. In the morning you’ll find groups of people who use a cane and groups of people who don’t.
“I shouldn’t be here,” a friend who uses a cane said to me at the last family conference, “I’m scaring people.”
“I shouldn’t be here,” a friend who has Usher but does not use a cane said to me at the last family conference, “I keep staring at the people with canes and I think I’m embarrassing them. I can't help wondering if that will be me.”
Of course, you know where this story goes. My two friends eventually met each other. Cane and No Cane. No Cane had just recently had to give up driving. Cane understood. He remembered how hard it was for him at first. No Cane met Cane’s wife, learned he had two happy, successful grown children. She felt better about her future. Cane offered advice to No Cane. He felt better about attending. For once, having Usher was a good thing. He wasn’t scaring people. He was helping people. Cane and No Cane frequently trade e-mails and advice now. They are part of the same community. That’s exactly what we need.
Look, I understand the emotions involved. I fear the cane, too. I don’t want my daughter to ever have to rely on one. I want to find treatments that make the cane unnecessary. But more than that, I fear the cane’s power to divide. Usher syndrome research is woefully underfunded because we are not a strong community and therefore not a strong lobby. And it’s our fears that are the biggest obstacle to changing that.
“The only thing we have to fear is fear itself.” – Franklin Delano Roosevelt
It’s hard to believe that I am afraid of a white folding piece of aluminum, especially when there’s a little rubber ball on the end of it or maybe a tennis ball. Yet the cane scares me and it should scare you, but not for the reasons you think.
“I don’t really need it right now,” she said, “but it clears the streets.”
So it did. The stream of people parted and we walked hassle free. The cane, it turns out, has an unmatched power to divide.
And that’s the problem.
Walk with me for a moment and I’ll explain. See, we want treatments for Usher syndrome. To develop treatments we need lots of researchers doing lots of work. That costs lots of money. The best large funding source out there is the National Institute of Health. The NIH is a governmental agency that, while it is independent of Congress, certainly heads the wishes of the Congress. If enough members of Congress tell NIH to fund a certain project, NIH will fund that project. So for us to get substantial funding for Usher syndrome research from NIH to pay for lots of researchers to do lots of research, we need members of Congress to tell NIH to fund Usher syndrome research.
Members of Congress work for you. You elect them and they act on your behalf. The reason they have not asked NIH for more funding for Usher syndrome research is because we have not done a good enough job of letting them know that we want them to do that. We need everyone with Usher syndrome to work together to encourage Congress to push NIH for Usher syndrome research funding.
Recognizing that fact, we have been working to build an Usher syndrome community. We want to identify everyone with Usher syndrome, educate them on what it will take to find treatments, then enlist their help lobbying Congress for increased NIH funding (among other things). As part of that effort we have developed a Family Network to connect families and have been running annual Family Conferences to further build that Usher syndrome community we so desperately need.
Enter the cane.
Parents of young children fear the cane. Adults who’s vision is still good fear the cane. It’s not the painted aluminum they fear, obviously, but what it represents. To them it is a frightening future of limitations and loneliness. They don’t want to see anyone using a cane because they might glimpse the difficulties ahead. They don’t want to meet anyone using a cane because they might learn how this person was once happy and free and then, when the cane arrived, they turned miserable and downtrodden. The cane, to families not using the cane, is the very symbol of the fear they try so hard to control so they avoid it. They don’t want to know the truth about it because the truth might be even worse than they fear.
People who use a cane know that. They feared the cane themselves. They fought against it and dreaded the time when they would need it. They know that people look at them with their cane and make assumptions about them. They also know that the cane rather than closing doors, often opens them. The cane is a source of mobility and comfort. The cane parts crowds and allays fears. Oh sure, everyone using a cane would rather not have to use one, but given the alternative, it’s a big help. But they understand why people might fear the cane. So they avoid people who don’t use the cane because they either don’t want to upset them or they don’t want to try to explain its benefits to someone near panic.
As I said, the cane has an unmatched power to divide.
We see this all the time with the family network. Families of young children don’t want to be contacted by adults with Usher, adults who might use a cane. Adults who don’t use the cane don’t want to be contacted by adults who do. Adults who do use the cane don’t want to get involved, don’t want to invite tough questions, and don’t want to be treated with gentle fear just because they carry a piece of folding aluminum. Now none of these folks openly say that they don’t want to be contacted. They just don’t join the network or they do join but don’t contact people on the other side of that thin white line.
We see this all the time at family conferences, too. In the morning you’ll find groups of people who use a cane and groups of people who don’t.
“I shouldn’t be here,” a friend who uses a cane said to me at the last family conference, “I’m scaring people.”
“I shouldn’t be here,” a friend who has Usher but does not use a cane said to me at the last family conference, “I keep staring at the people with canes and I think I’m embarrassing them. I can't help wondering if that will be me.”
Of course, you know where this story goes. My two friends eventually met each other. Cane and No Cane. No Cane had just recently had to give up driving. Cane understood. He remembered how hard it was for him at first. No Cane met Cane’s wife, learned he had two happy, successful grown children. She felt better about her future. Cane offered advice to No Cane. He felt better about attending. For once, having Usher was a good thing. He wasn’t scaring people. He was helping people. Cane and No Cane frequently trade e-mails and advice now. They are part of the same community. That’s exactly what we need.
Look, I understand the emotions involved. I fear the cane, too. I don’t want my daughter to ever have to rely on one. I want to find treatments that make the cane unnecessary. But more than that, I fear the cane’s power to divide. Usher syndrome research is woefully underfunded because we are not a strong community and therefore not a strong lobby. And it’s our fears that are the biggest obstacle to changing that.
Thursday, October 6, 2011
Usher syndrome, part III: The Plot Thickens
by Jennifer Phillips, Ph.D.
The time has come to delve into the retinal component of Usher syndrome. In Part II, I briefly described the results of protein localization studies, in which most members of the Usher cohort were found at the connecting cilium of the photoreceptor and at the photoreceptor synapse. The following diagram summarizes these findings:
So, as we saw in the ear, the proteins with the equipment for physically interacting with one another are gathering in specific places, and thus multi-protein complexes are most likely to be formed at these locations. The cluster of Usher proteins around the connecting cilium has been the focus of most of the current retinal studies, and to understand the potential importance of an Usher complex at that subcellular location we must address the importance of the connecting cilium itself.
Recall the structure of the photoreceptor cell described in Part I. The inner segment, just above the nucleus, contains all the standard-issue cell operating equipment: specialized molecules required for producing protein, degrading cellular waste products and performing various other metabolic functions. The outer segment contains the intricately folded membrane discs with which light sensitive molecules are associated. Between these two cellular compartments lies the connecting cilium, which grows out of the inner segment, extends up into the outer segment, and is surrounded by a structure known as the periciliary ridge, which encircles the connecting cilium like a little cuff. The cilium serves as a functional connection between the inner and outer segments, as well as a structural one. Proteins and other cellular materials synthesized in the inner segment need to get to the outer segment in order to perform their particular jobs up there, and materials that are no longer needed in the outer segment need to be carried away and dealt with in the inner segment. The connecting cilium acts as a transport system to which motor proteins can anchor and pull their molecular cargo up or down as needed.
The localization studies of the Usher proteins reveal that many of them are in the vicinity of the connecting cilium, but a closer look at this region of the cell shows that they are specifically either in the periciliary ridge (the ‘cuff’) or the space between the periciliary ridge and the connecting cilium:
Thus, the model for Usher protein function in the retina is that these complexes somehow assist in the cilium-based transport system. Here’s where things get a bit sticky, though. As most of our readership knows all too well, unlike the congenital nature of the hearing defects in most forms of Usher, the retinal symptoms don’t manifest all at once. Rather than being diagnosed at birth, vision loss usually isn’t noticed until a few years later—sometimes not until adolescence. Furthermore, they progress quite slowly, well into the third decade of life in most cases. How can the same defective proteins that cause such significant developmental problems in the hair cells not cause early problems in the retina as well?
The congenital deafness in human patients and mouse models of the disease, and the defects in stereocilia formation seen in the Usher mice are nicely explained by the model of protein interaction and function in the developing hair cells, discussed in Part II. The retinal cells, however, appear to develop normally and apparently function normally until they begin to degenerate. I say ‘apparently’ because the ‘pre-death’ state of the photoreceptors has been difficult to observe thus far. Historically, the first sign of a problem in human Usher patients occurs when the hearing-impaired child or teenager begins to experience night blindness due to a loss of rod photoreceptors in the periphery of the eye. By the time of this first clinical exam in such cases, the degeneration is already well underway. Fortunately (from an investigative point of view, at least) this is changing with genetic screening and early identification of Usher patients, but even with earlier eye exams it’s still not at all clear what is going wrong in the retina at the molecular level.
At this point you might well ask what clues the Usher mutant mice, which proved so valuable in adding to our understanding of the disease progression in the ear, can tell us about the events leading up to retinal degeneration. To our great consternation, most of the originally identified Usher mice do not undergo retinal degeneration at all! A number of these mutant mice have been examined expectantly until the end of their natural lives (around 2 years) and most do not exhibit any abnormality in their retinas. The exceptions to this are older mice with mutations in the Cadherin 23 (ush1d) gene, which show a slight reduction in visual function older ages, and Myo7a (ush1b) mutant mice, which exhibit a fairly distinct defect in moving proteins around in the retinal pigmented epithelium. Neither type of mouse shows any retinal degeneration.
Several theories have been put forth to explain this discrepancy between the mouse and human forms of the retinal disease. One possibility is that mice, being nocturnal animals and usually raised in low-light laboratory conditions, may not endure the bright light exposure that human retinas must withstand. Another explanation may lie in the slow, progressive nature of the human disease and the relatively short life cycle of the mouse—perhaps two years just isn’t long enough for the retinal defects to manifest in the mouse retina. A third theory centers on the fact that all of the known Usher proteins actually exist in multiple variations—the genetic code that specifies each of these proteins can be cut and spliced in a few different ways, giving rise to similar, but not identical protein products. The exact roles of the different isoforms of every gene aren’t yet clear, but some of them do appear to be more important in the ear than in the eye. It’s possible that the mutations in mouse Usher genes that give rise to such a strong ear phenotypes don’t affect the part of the protein that’s important for retinal cell function, and thus the mouse is spared the vision loss that characterizes the human disease. In further support of this latter theory is that fact that many of the Usher syndrome genes are also linked to non-syndromic deafness in humans—hearing loss without associated blindness.
None of the above theories are mutually exclusive, and it may turn out to be a combination of genetics, environment and life span that has limited the retinal phenotype of these Usher mutant mice. Encouragingly, excellent progress has been made through the use of genetically engineered mice, in which an Usher protein is removed completely (see knockout mice for more on this technique) or, alternatively, a targeted mutation is introduced into a particular Usher gene that renders the encoded protein non-functional. Thus far, these genetically modified mice show late-onset retinal degeneration (I’ve blogged about two such strains previously, here and here) and are providing important new avenues for therapeutic research. In these mice, therefore, we have a more complete model of Usher syndrome, although the retinal degeneration still appears to initiate later in mouse development than in the corresponding human lifespan. Moreover, as useful as these new strains have been, the Knockout technique isn’t foolproof. Knockout mice for at least two Usher genes (Ush1c and Clrn1) have not displayed significant retinal degeneration in any studies published to date.
In short, there are still a great many unanswered questions surrounding the pathophysiology of Usher syndrome, particularly with respect to the retinal phenotype. To complement the data being collected from the mouse models, myself and other scientists have investigated various Usher proteins in the zebrafish. There are some differences in the retinal anatomy of zebrafish and humans, but basic cell structure and function is conserved between the two species. Additionally, there are some similarities that make zebrafish an especially appealing organism for this type of study, including the fact that fish are diurnal animals with rich color vision--even better than humans, in fact, as they can see light in the ultraviolet range of the spectrum. Other advantages to using zebrafish are related to their development. Zebrafish embryos undergo fertilization and development outside the mother’s body, and usually several hundred embryos are produced from a single mating. They develop rapidly and are able to swim, see and hear just a few days after fertilization. Thus, we can conduct vision, hearing and balance tests within the first week of development and obtain results quite rapidly to learn more about the consequences of losing Usher gene function.
Understanding the cellular events that precede the death of these cells will be crucial in identifying ways to improve diagnosis and treatment of Usher syndrome. In the conclusion of the Usher story, I’ll discuss current clinical practices for managing Usher syndrome, and the direction of the research efforts designed to enhance these treatments.
The time has come to delve into the retinal component of Usher syndrome. In Part II, I briefly described the results of protein localization studies, in which most members of the Usher cohort were found at the connecting cilium of the photoreceptor and at the photoreceptor synapse. The following diagram summarizes these findings:
 |
| Adapted from Reiners et al, 2006. Colored blocks show subcellular localiazation of the various Usher proteins in photoreceptor cells. Colocalization is densest in the region of the connecting cilium (CC) and the synapse (S). Other abbreviations: BM: basement membrane; RPE: retinal pigmented epithelium; OS: outer segment; IS: inner segment; N: nucleus. |
Recall the structure of the photoreceptor cell described in Part I. The inner segment, just above the nucleus, contains all the standard-issue cell operating equipment: specialized molecules required for producing protein, degrading cellular waste products and performing various other metabolic functions. The outer segment contains the intricately folded membrane discs with which light sensitive molecules are associated. Between these two cellular compartments lies the connecting cilium, which grows out of the inner segment, extends up into the outer segment, and is surrounded by a structure known as the periciliary ridge, which encircles the connecting cilium like a little cuff. The cilium serves as a functional connection between the inner and outer segments, as well as a structural one. Proteins and other cellular materials synthesized in the inner segment need to get to the outer segment in order to perform their particular jobs up there, and materials that are no longer needed in the outer segment need to be carried away and dealt with in the inner segment. The connecting cilium acts as a transport system to which motor proteins can anchor and pull their molecular cargo up or down as needed.
The localization studies of the Usher proteins reveal that many of them are in the vicinity of the connecting cilium, but a closer look at this region of the cell shows that they are specifically either in the periciliary ridge (the ‘cuff’) or the space between the periciliary ridge and the connecting cilium:
 |
| Adapted from Märker et al, 2008. Panel B shows a cutaway side view of the connecting cilium (CC) and surrounding terrain. The ‘peninsula’ (marked with a * near the top) shape to the right of the CC and beneath the outer segment (OS) is the structure known as the periciliary ridge. Panel C shows a top-down view of this same region, in which the periciliary ridge is depicted as a crescent shape that wraps around most of the circumference of the CC. In both panels, colored shapes depict the various usher proteins that are hypothesized to provide structural and functional links between the CC and the periciliary ridge. Other Abbreviations: MT: microtubules. |
The congenital deafness in human patients and mouse models of the disease, and the defects in stereocilia formation seen in the Usher mice are nicely explained by the model of protein interaction and function in the developing hair cells, discussed in Part II. The retinal cells, however, appear to develop normally and apparently function normally until they begin to degenerate. I say ‘apparently’ because the ‘pre-death’ state of the photoreceptors has been difficult to observe thus far. Historically, the first sign of a problem in human Usher patients occurs when the hearing-impaired child or teenager begins to experience night blindness due to a loss of rod photoreceptors in the periphery of the eye. By the time of this first clinical exam in such cases, the degeneration is already well underway. Fortunately (from an investigative point of view, at least) this is changing with genetic screening and early identification of Usher patients, but even with earlier eye exams it’s still not at all clear what is going wrong in the retina at the molecular level.
At this point you might well ask what clues the Usher mutant mice, which proved so valuable in adding to our understanding of the disease progression in the ear, can tell us about the events leading up to retinal degeneration. To our great consternation, most of the originally identified Usher mice do not undergo retinal degeneration at all! A number of these mutant mice have been examined expectantly until the end of their natural lives (around 2 years) and most do not exhibit any abnormality in their retinas. The exceptions to this are older mice with mutations in the Cadherin 23 (ush1d) gene, which show a slight reduction in visual function older ages, and Myo7a (ush1b) mutant mice, which exhibit a fairly distinct defect in moving proteins around in the retinal pigmented epithelium. Neither type of mouse shows any retinal degeneration.
Several theories have been put forth to explain this discrepancy between the mouse and human forms of the retinal disease. One possibility is that mice, being nocturnal animals and usually raised in low-light laboratory conditions, may not endure the bright light exposure that human retinas must withstand. Another explanation may lie in the slow, progressive nature of the human disease and the relatively short life cycle of the mouse—perhaps two years just isn’t long enough for the retinal defects to manifest in the mouse retina. A third theory centers on the fact that all of the known Usher proteins actually exist in multiple variations—the genetic code that specifies each of these proteins can be cut and spliced in a few different ways, giving rise to similar, but not identical protein products. The exact roles of the different isoforms of every gene aren’t yet clear, but some of them do appear to be more important in the ear than in the eye. It’s possible that the mutations in mouse Usher genes that give rise to such a strong ear phenotypes don’t affect the part of the protein that’s important for retinal cell function, and thus the mouse is spared the vision loss that characterizes the human disease. In further support of this latter theory is that fact that many of the Usher syndrome genes are also linked to non-syndromic deafness in humans—hearing loss without associated blindness.
None of the above theories are mutually exclusive, and it may turn out to be a combination of genetics, environment and life span that has limited the retinal phenotype of these Usher mutant mice. Encouragingly, excellent progress has been made through the use of genetically engineered mice, in which an Usher protein is removed completely (see knockout mice for more on this technique) or, alternatively, a targeted mutation is introduced into a particular Usher gene that renders the encoded protein non-functional. Thus far, these genetically modified mice show late-onset retinal degeneration (I’ve blogged about two such strains previously, here and here) and are providing important new avenues for therapeutic research. In these mice, therefore, we have a more complete model of Usher syndrome, although the retinal degeneration still appears to initiate later in mouse development than in the corresponding human lifespan. Moreover, as useful as these new strains have been, the Knockout technique isn’t foolproof. Knockout mice for at least two Usher genes (Ush1c and Clrn1) have not displayed significant retinal degeneration in any studies published to date.
In short, there are still a great many unanswered questions surrounding the pathophysiology of Usher syndrome, particularly with respect to the retinal phenotype. To complement the data being collected from the mouse models, myself and other scientists have investigated various Usher proteins in the zebrafish. There are some differences in the retinal anatomy of zebrafish and humans, but basic cell structure and function is conserved between the two species. Additionally, there are some similarities that make zebrafish an especially appealing organism for this type of study, including the fact that fish are diurnal animals with rich color vision--even better than humans, in fact, as they can see light in the ultraviolet range of the spectrum. Other advantages to using zebrafish are related to their development. Zebrafish embryos undergo fertilization and development outside the mother’s body, and usually several hundred embryos are produced from a single mating. They develop rapidly and are able to swim, see and hear just a few days after fertilization. Thus, we can conduct vision, hearing and balance tests within the first week of development and obtain results quite rapidly to learn more about the consequences of losing Usher gene function.
Understanding the cellular events that precede the death of these cells will be crucial in identifying ways to improve diagnosis and treatment of Usher syndrome. In the conclusion of the Usher story, I’ll discuss current clinical practices for managing Usher syndrome, and the direction of the research efforts designed to enhance these treatments.
Thursday, September 29, 2011
Where Have I Been?
by Mark Dunning
My apologies for not posting recently, but I have excuses (yes, not a single excuse, but multiple excuses).
Excuse #1: The Usher Syndrome Registry
Back in January, I wrote about the need for an Usher syndrome registry and what it might look like. The gauntlet was picked up by a gentleman with Usher syndrome who was also a programmer. He and a few others (including me) have been working to design and build the registry and bring it online. We’re getting close and in the last six weeks or so began the first rounds of testing the site. We’ve gotten feedback on the bugs and have gratefully accepted the pro bono assistance of a law firm to pull together the legal language and disclaimers for the site. We hope to launch in the next six to eight weeks, which is exciting but time consuming. Hence Excuse #1. Watch this space for the launch date and then be sure to register. We will definitely need your help spreading the word, as well.
Excuse #2: The Monthly Usher Syndrome Conference Calls
We run a monthly Usher syndrome conference call for families, care givers, and researchers. The calls are the second Monday of every month (unless that falls on a holiday) at 1:00 PM Eastern Time. Everyone is welcome to participate. If you’d like to join in, feel free to contact me for the call details. The topics change from month to month but we’ve lined up the next several speakers. It’s amazing how generous people are with their time, but coordinating the speakers takes some work. So that’s Excuse # 2.
Here’s a list of upcoming speakers and the dates in case you are interested in joining the call.
October 17, 2011
Accommodations in School for Kids with Usher - Honore Weiner, Educational Director for the Decibels Foundation and Tracy Luiselli, Project Director for the New England Consortium of Deafblind Projects
November 14, 2011
How Does Genetic Testing Work and What Does the Future Hold – Dr. Heidi Rehm, Harvard Medical School Center for Hereditary Deafness
December 12, 2011
The Impact of Genetic Testing on Families – Dr. Margaret Kenna, Children’s Hospital Boston
*Excuse #2a is that I spoke about the Coalition for Usher Syndrome Research on the September call.
Excuse #3: My Daughter, The Classy Awards, and the Decibels Foundation
Let’s see, I don’t think I’ve bragged about Bella since, um, well, since the last post. But since that was such a long time ago, it seems about the right time to do it again. My wife and I run the Decibels Foundation, which helps support the educational needs of kids with hearing loss (and, therefore, Usher syndrome as well). Last winter Bella’s sixth grade class held an inspirational fund raiser to support the Decibels Foundation. They raised $20,000 doing a roll-a-thon and the stories of their efforts, like the kids that shovelled every driveway in their neighbourhood to give money to the cause, still bring a tear to my eye.
It was frustrating when we couldn't get any of the local media to report the story.
Well, they finally got the recognition they deserved. The Classy Awards, which is a national awards ceremony for philanthropic achievement, recognized the Blanchard School’s Sixth Grade Class and the Decibels Foundation with the award for Most Successful Fundraiser by and Individual or Group. There were hundreds of entrants from around the country, so it was an incredible honor. As a result, we took an unexpected vacation to San Diego for the awards ceremony. So that’s Excuse #3.
By the way, my son already plans on winning the award next year. We were fortunate to meet Adam Garone, one of the co-founders of Movember. If you don’t know them, they are the charity that encourages people to grow moustaches to raise awareness of men’s health issues, particularly prostate cancer. Adam told the story of how the charity started. It seems he and his buddies decided to grow moustaches each November for fun. After a couple of years, they finally tired of explaining to their wives, girlfriends, and bosses why they had that hideous facial hair so they decided to legitimize their efforts and Movember the charity was born (a ‘mo’ is a moustaches in Australia where Adam lives). Last year they had 450,000 moustaches grown worldwide and raised $81 million dollars. Yikes! Oh what we could do with $81 million dollars for Usher syndrome research.
The light bulb went on with my ten year old son. It’s not that he wanted to raise money so much as he has lots of socially frowned upon habits he wants to legitimize. Probably the worst is his reluctance to change his underwear.
I wrote about this once before for another blog: “We noticed a nasty smell in the house recently. We assumed it was my son. He’s taken to wearing the same pair of underwear every day. We’re going to have to scrape them off of him like paint from a window. Needless to say, Julia and I are not on board with the whole ‘wear the same pair of underwear until it decomposes on you’ stunt. In response, we’ve been ordering him to show us his skivvies every morning to ensure that he’s actually changed.
This led him to change tactics. He still didn’t change. He just kept layering each new pair of underwear on top of the old. My wife figured it out when he could no longer buckle his pants. She peeled off five pairs of fruit of the looms, like he was a tighty whitey onion.
Anyway, turns out the smell last night wasn’t Jack. It was sewage. We hope that being mistaken for a sewage backup will be enough to discourage future perma-undie adventures from Jack.”
Well, Adam and Movember took that hope. We hadn't made it back to the hotel after the ceremony before Jack had planned a “Stink Week” to raise money for kids with hearing loss by “making a stink for hearing loss.” He plans to wear the same shirt for an entire week or until he reaches his fund raising goal, whichever comes first (we convinced him to go with not changing his shirt instead of not changing his underwear). The idea, I suppose, is that some desperate teacher, tired of him stinking up the classroom, will write him a check if he promises to change.
This all seemed sort of an insincere ploy to me until I attended the open house at his school last night (Excuse #3a!). All the kids in class had written lists about what they would do if they were in charge of the world. Number two on Jack’s list was “I would take Usher syndrome away from my sister.” I now fully support his “stink week”.
In case you are wondering, number one on his list was “I would make Pokemon real” so he still has his ten year old priorities straight.
Excuse #4: Don’t Worry, the Wings of the Airplane are NOT on Fire
That comes from an old Monty Python skit where pilots of an airplane are bored and decide to mess with the passengers. Understandably, saying the wings are NOT on fire over the intercom leads to the passengers freaking out. We had a similar but far less humorous situation here on the comments section of this blog. A reader said he was told by a doctor that there was a link between Usher syndrome and cancer, which understandably caused a stir among our other readers. I spent quite a bit of time (there’s Excuse #4) asking as many experts as I could about this rumor. They all said the same thing. There is no known link between Usher syndrome and any form of cancer. So the wings are NOT on fire. You can now return to your seats.
OK, I’m now officially out of excuses. Time to go work on that next post!
My apologies for not posting recently, but I have excuses (yes, not a single excuse, but multiple excuses).
Excuse #1: The Usher Syndrome Registry
Back in January, I wrote about the need for an Usher syndrome registry and what it might look like. The gauntlet was picked up by a gentleman with Usher syndrome who was also a programmer. He and a few others (including me) have been working to design and build the registry and bring it online. We’re getting close and in the last six weeks or so began the first rounds of testing the site. We’ve gotten feedback on the bugs and have gratefully accepted the pro bono assistance of a law firm to pull together the legal language and disclaimers for the site. We hope to launch in the next six to eight weeks, which is exciting but time consuming. Hence Excuse #1. Watch this space for the launch date and then be sure to register. We will definitely need your help spreading the word, as well.
Excuse #2: The Monthly Usher Syndrome Conference Calls
We run a monthly Usher syndrome conference call for families, care givers, and researchers. The calls are the second Monday of every month (unless that falls on a holiday) at 1:00 PM Eastern Time. Everyone is welcome to participate. If you’d like to join in, feel free to contact me for the call details. The topics change from month to month but we’ve lined up the next several speakers. It’s amazing how generous people are with their time, but coordinating the speakers takes some work. So that’s Excuse # 2.
Here’s a list of upcoming speakers and the dates in case you are interested in joining the call.
October 17, 2011
Accommodations in School for Kids with Usher - Honore Weiner, Educational Director for the Decibels Foundation and Tracy Luiselli, Project Director for the New England Consortium of Deafblind Projects
November 14, 2011
How Does Genetic Testing Work and What Does the Future Hold – Dr. Heidi Rehm, Harvard Medical School Center for Hereditary Deafness
December 12, 2011
The Impact of Genetic Testing on Families – Dr. Margaret Kenna, Children’s Hospital Boston
*Excuse #2a is that I spoke about the Coalition for Usher Syndrome Research on the September call.
Excuse #3: My Daughter, The Classy Awards, and the Decibels Foundation
Let’s see, I don’t think I’ve bragged about Bella since, um, well, since the last post. But since that was such a long time ago, it seems about the right time to do it again. My wife and I run the Decibels Foundation, which helps support the educational needs of kids with hearing loss (and, therefore, Usher syndrome as well). Last winter Bella’s sixth grade class held an inspirational fund raiser to support the Decibels Foundation. They raised $20,000 doing a roll-a-thon and the stories of their efforts, like the kids that shovelled every driveway in their neighbourhood to give money to the cause, still bring a tear to my eye.
It was frustrating when we couldn't get any of the local media to report the story.
Well, they finally got the recognition they deserved. The Classy Awards, which is a national awards ceremony for philanthropic achievement, recognized the Blanchard School’s Sixth Grade Class and the Decibels Foundation with the award for Most Successful Fundraiser by and Individual or Group. There were hundreds of entrants from around the country, so it was an incredible honor. As a result, we took an unexpected vacation to San Diego for the awards ceremony. So that’s Excuse #3.
 |
| Bella giving the acceptance speech on behalf of her class at the Classy Awards in San Diego |
 |
| Adam Garone, CEO and Co-Founder of Movember (and his 'stache) |
I wrote about this once before for another blog: “We noticed a nasty smell in the house recently. We assumed it was my son. He’s taken to wearing the same pair of underwear every day. We’re going to have to scrape them off of him like paint from a window. Needless to say, Julia and I are not on board with the whole ‘wear the same pair of underwear until it decomposes on you’ stunt. In response, we’ve been ordering him to show us his skivvies every morning to ensure that he’s actually changed.
This led him to change tactics. He still didn’t change. He just kept layering each new pair of underwear on top of the old. My wife figured it out when he could no longer buckle his pants. She peeled off five pairs of fruit of the looms, like he was a tighty whitey onion.
Anyway, turns out the smell last night wasn’t Jack. It was sewage. We hope that being mistaken for a sewage backup will be enough to discourage future perma-undie adventures from Jack.”
Well, Adam and Movember took that hope. We hadn't made it back to the hotel after the ceremony before Jack had planned a “Stink Week” to raise money for kids with hearing loss by “making a stink for hearing loss.” He plans to wear the same shirt for an entire week or until he reaches his fund raising goal, whichever comes first (we convinced him to go with not changing his shirt instead of not changing his underwear). The idea, I suppose, is that some desperate teacher, tired of him stinking up the classroom, will write him a check if he promises to change.
This all seemed sort of an insincere ploy to me until I attended the open house at his school last night (Excuse #3a!). All the kids in class had written lists about what they would do if they were in charge of the world. Number two on Jack’s list was “I would take Usher syndrome away from my sister.” I now fully support his “stink week”.
In case you are wondering, number one on his list was “I would make Pokemon real” so he still has his ten year old priorities straight.
Excuse #4: Don’t Worry, the Wings of the Airplane are NOT on Fire
That comes from an old Monty Python skit where pilots of an airplane are bored and decide to mess with the passengers. Understandably, saying the wings are NOT on fire over the intercom leads to the passengers freaking out. We had a similar but far less humorous situation here on the comments section of this blog. A reader said he was told by a doctor that there was a link between Usher syndrome and cancer, which understandably caused a stir among our other readers. I spent quite a bit of time (there’s Excuse #4) asking as many experts as I could about this rumor. They all said the same thing. There is no known link between Usher syndrome and any form of cancer. So the wings are NOT on fire. You can now return to your seats.
OK, I’m now officially out of excuses. Time to go work on that next post!
Subscribe to:
Posts (Atom)
