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Monday, November 19, 2012

We're Not Gone. We've Moved!

by Mark Dunning

Jennifer and I are still writing for the Usher Syndrome Blog.  We've just integrated the blog in tothe Coalition for Usher Syndrome Research web site.  You can continue to follow us here.



Sunday, November 4, 2012

A Brief Guide to Teenagers and Usher Syndrome

by Mark Dunning, Idiot

My daughter turned 14 last month, so she has been officially a teenager for a little over a year.  During that time, I have gotten an education on teenagers, an experience cast by the prism of Usher syndrome.  Bella has Usher syndrome type 1b.  I know that the combination of Usher syndrome and teenagers gives most parents hives, so I thought I’d take a few moments today to talk about my experiences with an Usher teen.



My beautiful loving daughter who thinks I'm a moron
First, the usual caveat:  I have no idea what I’m talking about.  I’m not an expert in anyway.  If you take my advice on anything, you do so at your own risk.  I’m an idiot.  Just ask my daughter.  Hey, that’s a good place to start!  Here’s some of the things I’ve learned:

The fact that your child has Usher syndrome does not make you any less of a dummy in his/her eyes.

I don’t dance Gangnam Style.  I don’t OMG or LOL.  I argued that “pwned” wasn’t an English word and the Urban Dictionary isn’t really a dictionary.  I still use the phone on the wall, for goodness sakes.  Mark Twain once wrote “When I was a boy of fourteen, my father was so ignorant I could hardly stand to have the old man around.”  Well, that’s me.

But I have also learned that, believe it or not, this is a good thing!  Teenagers are supposed to think you’re stupid.  They NEED to think you’re stupid.  To grow up, they need to do things on their own and they need to have the confidence to do so.  I hate to say it, mom and dad, but they need to believe they no longer need you.  They need to believe they know better than you.  And they need to fail.

This is especially true for kids with Usher.  All parents want to protect their kids but as parents of children with Usher, we spend a lot of time talking to the school on their behalf, talking to other parents on their behalf, prepping the kid about safety before an activity.  Out of necessity, we have been deeply involved in a lot of circumstances other parents don’t have to go near, This has been the right thing to do, of course.  These kids have needed our protection.  They can’t hear.  They can’t see well in certain situations.  They have balance issues.
 
Yet for these kids to become adults, they need to learn how to advocate for themselves and navigate the world as an adult with Usher.  The first step is for them to believe they can do it and that they don’t need your help.  Unfortunately, that often translates to “I don’t need your help because you’re an idiot.”
 
Just remember the rest of that Mark Twain quote: “But when I got to be twenty-one, I was astonished by how much he'd learned in seven years.”
 
So I guess the good news is I won’t be dumb forever.
 
Your teenager will be moody about Usher syndrome

…and your teenager will be moody about the amount of milk in a cereal bowl, about the way you looked at him/her, about the smell of a little brother.  So, yeah, of course they’ll be moody about Usher syndrome.  Teenagers grow like kudzu, they sprout hair in adult places, boys’ voices change, girls get, uh, girl parts.  They are raging factories of hormones.  They are, quite literally, chemically imbalanced.  They are going to be moody and Usher syndrome is going to be a target.  That’s not a problem.  Just don’t let moody become brooding.

You know your child.  You know if they are acting more reserved than normal, more removed than is healthy.  My daughter is like a porcupine most days.  I stay a safe distance.  But there is a difference between giving me disdainful glances and avoiding me all together.  One is normal, the other indicates a problem.  So watch for the problems.  And, unfortunately, telling you they hate you and slamming a door shut or tearfully telling you they love you because you bought the kind of peanut butter they like doesn’t indicate a problem.  That, regrettably, is normal.

The key is to keep the door open to talk about Usher at any time.  Bring it up every once in a while.  If you get dismissed as an idiot, well, rejoice.  They are just being moody and all is well!  If the child reacts out of character, whether overly emotional or hiding from the subject, that’s different.  We experienced this last yearwith Bella.

The rule of thumb we use with Bella is to talk about it a little a lot.  In other words, it’s a frequent but brief topic.  We hold two to three sentence conversations about Usher with Bella just about every day.  It’s usually things like “Are you sure you want to wear stiletto heels?  Remember, you have balance problems” or “I don’t like fish.  You don’t like fish.  But we are all eating fish because it might help your vision” or “You can go to the Halloween party, but remember it’s probably going to be dark.  So make sure you let your friends know if you need help.”

If she replies with a look of utter disdain or flips out about how much she hates us for butting in to her life, then she’s doing OK.  But we never let it go long without checking in.  I liken our means of discerning moodiness from a real problem to being a beekeeper.  You gotta check on the bees even though you know you’ll probably get stung.  It’s when they don’t sting that you worry.

If you think your teenager might just be moody about Usher and would talk, but just does not want to talk to you, the Coalition for Usher Syndrome Research can put them in touch with other teens with Usher.  There is also a Facebook site maintained by a teen with Usher.  And, of course, most schools offer resources for counseling that might be appropriate.  Just don’t avoid the topic.  Find a way to get him/her to talk about it, if only a little.  Moody is OK.  Brooding is not.

Teenagers are self-centered narcissists, but in a good way. 

Teenagers have absolutely no perspective on life.   They think the world revolves around the school and their friends.  They think middle age is something that happened to you, but won’t happen to them.  They will always be thin.  They will always have hair.  They will never have a job like you.  They may get older but they will never be old.

This is a good thing to remember when you talk to your teenager about Usher syndrome.  I’ve written about what to tell your child about Usher syndrome here and here but I thought I’d elaborate for teenagers.  I’ve recently talked to a couple of parents of children diagnosed as teenagers and they are particularly concerned about how to discuss the diagnosis with their child, as they should be.  An Usher syndrome diagnosis is difficult at any age but the thought of introducing it to a teenager lost in the purple haze of puberty is exceptionally frightening.  

I’ve learned to remember that narcissistic perspective when I talk to Bella about Usher syndrome.  When we discuss vision loss, we talk about it happening when she is older.  We do this for two reasons.  First, it’s the truth.  Almost all people with Usher retain usable vision in to their 30s and beyond.  But secondly, by putting it in a future context, she doesn’t worry about it as much.  Why?  Because she doesn’t ever plan on being older!  It’s impossible to imagine.

Here’s a verbatim discussion I recently had with my daughter.  For context, I had just asked her if she would be willing to talk to another teen about Usher and over the course of the conversation, this happened:

Me:  “Are you worried that you might go blind?”
Her:  “I’m going blind?!”
“Well, no, I hope not.”
“Then why are we talking about this?”
“Look, you know what I mean.  You’ve met adults with Usher.  Often people with Usher have vision problems when they are older.”
“Like how old?”
“I don’t know.  Thirty, forty.”
“Forty?!  I thought you meant when I was in high school,” she waved her hand dismissively, “Pfft.  I don’t worry about being forty.  No.  I don’t worry about going blind.” 

End of discussion.  Actually, that wasn’t the end.  She then went on to tell me how much she thought her new haircut made her look like Emma Stone.  See?  Narcissist. 

Note how I never said she was destined to go blind in our conversation.  I never say that to Bella because I simply don’t believe it to be true.  But even if I were certain that someday she would be blind, she’s not blind today and won’t be for years and years.  As long as it’s out there somewhere in the future of oldness, she’s OK with it.  
 
HOWEVER, if you tell a teenager that they are going to go blind and don’t define the timeline, well, holy hand grenades, look out.  You’ve just stepped right on the third rail of teenage angst.  Everything in the present is a big deal to a teenager, especially those things that might make them different than their peers.  If blindness is in the present, even in suggestion only (and it very rarely is there in reality for kids with Usher), then they will struggle with it emotionally.
 
So my advice is talk about Usher a lot but keep the discussions focused advocating in the present.  All discussions about what the future might hold should be abstract since none of us really knows what the future holds anyway.  You’ll still be an idiot, but they’ll be more willing to talk about Usher and the emotional impact will be minimized.  Oh, and since they assume everyone is looking at them, remember to complement them on their haircut.
 
So there it is.  There, in less than three pages, is all I think understand about teenagers.  But I wouldn’t trust any of it.  I don’t know anything.
 
Just ask my daughter.
 
Editors note: Prior to posting I read this to Bella.  Here's what she had to say about it:  "I think it's good and will help many kids.  But you're still a moron."  At least she has a good sense of humor.

Thursday, October 18, 2012

Interpreting the data on Usher syndrome and Psychosis: Is there a connection?

by Jennifer Phillips, Ph.D.

Since my return to blogging with an analysis of recent peer-reviewed literature on Usher research, another paper that will probably have relevance to a lot of our blog readers has come to my attention. In contrast to those first two papers on new Usher genes, however, this one isn’t exactly a cause for celebration.

The article, just published in the journal Case Reports in Ophthalmological Medicine, is entitled “Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia”. It’s a scary title, no question. If I were a family member of a child with Usher, my first impulse would be to wonder “How much should I worry about this? “ My principal role as a contributor to the blog, and indeed, the prime directive of the blog itself, is to give people hope and give you reasons to worry less. My esteemed co-blogger, the father of a child with Usher, has written several things worth reading on the subject of worry, and together we have both endeavored to provide information to help families navigate the frustrating unknowns of this disease. Although I cannot answer the question “How much should I worry about this?” for any of you, I can attempt to provide a framework within which to consider these new findings, and my interpretation of what they mean for the larger Usher community.

So first, let’s break down the data in this paper. I promise I’ll be brief. This is a case report, which is distinct from a research study in that it is simply a report of findings from the clinical examination of some number of patients. In this particular case, that number is two: a brother and sister, both clinically and genetically diagnosed as having Usher type 2a, who were both also diagnosed with schizophrenia. And that’s the whole report, excerpting details of the genetic screening and medical history relevant to their diagnoses.

Naturally, we wonder what the cases of these two siblings can tell us about Usher syndrome in general. Why does this case study warrant this analysis? First, let’s consider possible causes for the mental symptoms being experienced by these individuals:

Option 1: Schizophrenia has no connection with Usher syndrome type 2a. These siblings just happen to share a genetic mutation responsible for schizophrenia, as well as sharing a genetic mutation in USH2A.

Option 2: This mutation in USH2Acan cause schizophrenia in addition to causing Usher syndrome.

Option 3: This mutation in USH2A can predispose an individual to schizophrenia.

Hopefully the difference between ‘cause’ and ‘predispose’ is clear: In Option 2, loss of Usher protein function is directly responsible for the psychiatric condition, whereas in Option 3, loss of Usher protein function creates a susceptibility, such that if other factors causing psychiatric abnormalities are present, they are more likely to manifest.

Note that options 1 and 2 assume a genetic cause for schizophrenia, whereas #3 is more general on this point. There is evidence that schizophrenia has a genetic component, but probably not in 100% of the cases. There are a several specific genetic circumstances that could fit into each option, but for the sake of getting on with it, I won’t spend time detailing these scenarios. The case study can’t tell us which option is correct, in any event, so at this point it’s prudent to accept that we don’t know the answer and move on to ponder what bearing, if any, this report has on the larger Usher community. By itself, we can’t give this report too much weight. It is, after all, just two patients from a single family. But this particular case study is just the latest in a series of other, similar reports of brain and behavioral abnormalities in Usher patients that have appeared in the scientific literature over the past half-century.

If you’ve followed any of my previous posts about the molecular basis of Usher syndrome, you might recall that Usher proteins are thought to play a role in cell functions involving cilia. You might also remember that ciliated cells are found in many organs other than eyes and ears, including the brain. Previous research has shown that many of the Usher proteins are present in other body tissues, including the brain, from early stages of development. Finally, one Usher protein, the one that causes USH2C, was first identified as a gene responsible for seizures before it was linked to Usher syndrome, suggesting that it does have a role in brain development or function.

If you consider all of the above, it seems clear that the question of whether some percentage of Usher patients might also experience neurological or psychiatric symptoms bears further consideration.

What that percentage might be isn’t at all clear. The largest number that any of the studies have concluded to date is around 25%--and this was from a paper published in 1959. Other studies have hit something closer to 5% (also reported decades ago). Like the Case Report that started this conversation, most of the older papers are also case studies: reports of correlations observed between one set of symptoms (deafblindness) and another (psychiatric problems). Only one study that I found, published in 1998, investigated whether there might be detectable abnormalities in the brains of Usher patients. At this time, 14 years ago, genetic diagnoses were still several years away from becoming the standard of care. In fact, only one Usher gene had been molecularly identified at that time (MYO7A). So, although clinically diagnosed usher type 1 and Usher type 2 patients were included in this study, we don’t know what genes were affected in these individuals. The researchers used brain imaging techniques on these Usher patients, and also imaged the brains of a large control group of people without Usher. They found some differences in the brain shape and growth patterns of the Usher patients, but what they weren’t able to do was correlate brain changes with behavioral changes in these patients. Here is the concluding sentence from that paper:
Given the subtle nature of these changes, it may not be surprising that some clinical manifestations of this diffuse cerebral involvement have yet to be clearly delineated. In addition, older Usher patients are quite isolated and seldom the subject of clinical investigation. Furthermore, meaningful psychometric evaluations are difficult on patients with hearing and visual difficulties. All of these may be factors for the lack of documentation of the clinical manifestations of this progressive encephalopathy.
In other words, they found some differences that are clinically notable, meaning they tipped the ‘statistical significance’ scale which measures the probability that these differences could exist by chance, but weren’t able to tie them to a particular disorder or use the findings in any predictive or diagnostic way. The paper doesn’t state whether any of the subjects themselves had psychological problems, and even if they had, the sample size would likely have been too small to make any conclusions about cause. The part that I’ve bolded above is the authors’ (valid) attempt to explain why the reports of psychological problems in Usher patients are so variable and unquantifiable. Other authors of the various studies I read also noted the challenges associated with these diagnoses in Usher patients. In the current case study, for example, they include the following in their discussion:
Visual or auditory impairment is associated with higher rate of depression, suicidal behavior, psychological stress, and social handicap.
That’s visual or auditory impairment in general--not just in Usher patients. And here’s where it gets tricky. This observation is one that many of the families reading here will concur with. Sensory deprivation creates unique types of stress on the brain, and not everyone will respond the same way to this stress. The crucial question is—is the incidence of this kind of psychological issue higher in people with Usher syndrome than in people with other diseases that cause deafblindness? And, as a follow-up to that, if that number is truly higher, what does it mean?

We are far from a nice clear, uncontroversial conclusion here. There are some trends, some variable statistics, and one 14-year old attempt to make sense of the previous clinical reports. To be clear, though, this is absolutely not at all the fault of the clinicians, researchers, or anyone else. Our sample sizes for any of these studies are usually small, because Usher syndrome is quite rare. Gene mapping and sequencing as part of a clinical assessment is a pretty new thing, so this tool hasn’t yet been applied to this particular question. Last, but definitely not least, brain function and behavior are extremely complex. Even if the genetic part of the story was clearer, it still might not be all that illuminating. As mentioned above, the cause(s) of schizophrenia all on its own are not definitively known. Diagnostic criteria for psychological disorders are modified and refined at an accelerated rate compared to many other fields of medicine. Psychiatry is a challenging field, and tends to be more reliant on individualized treatments than most other specialties.

So where does all that leave us? If we revisit the options developed from the current ush2a sibling study, after having considered the larger body of relevant studies, how can they be modified?

Option 1: Schizophrenia has no connection with Usher syndrome. Genetic mutations for neurological/psychiatric problems are sometimes present in individuals with genetic mutations for Usher syndrome.

Option 2: Mutations in Usher genes can sometimes also cause neurological/psychiatric problems

Option 3: Mutations in Usher genes can predispose individuals to neurological/psychiatric problems.

Most of the existing studies precede the advent of genetic screening, so in all but the latest report of the two siblings, we don’t know the genetic cause of Usher syndrome, thus it isn’t possible to associate these psychiatric symptoms with a particular subtype (or types) of Usher. Hopefully the emerging molecular tools, coupled with the growing awareness of the disease, the importance of early intervention, family support, and access to special services will help to illuminate the pattern, if, indeed, there is a pattern at all. At the moment, though, we can’t eliminate any of those options from consideration.

I cannot tell you how much to worry about this. All I can say is, although it seems cruel to add yet another dark unknown onto an already mysterious and stressful condition, maybe knowing more about the potential for this problem will be a net good, rather than a net harm.

Maybe if families and clinicians are aware that there might be additional behavioral issues associated with a diagnosis of Usher syndrome, they can be proactive about monitoring behavior and keeping the lines of communication open.

Maybe increased awareness of Usher in general, better diagnostics, and participation in the registry will help us track these trends so that the relationship between Usher syndrome and brain function will be less mysterious for current and future generations of Usher patients—and their caregivers.

Know that I will stay on this story and bring you any updates as they become available. Meanwhile, I truly believe that this is one of those situations in which, when faced with a new problem, we can do more than hope. We can act. Research. Register. Raise Awareness. We will find the answers.

We’re all in this together, and although I still can’t tell you how much to worry, please try not to worry any more than you absolutely need to.

References:

Daniela Domanico, Serena Fragiotta, Paolo Trabucco, Marcella Nebbioso, and Enzo Maria Vingolo, “Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia,” Case Reports in Ophthalmological Medicine, vol. 2012, Article ID 380863. 2012.

Schaefer, G. Bradley, Bodensteiner, John B., Thompson, James N., Kimberling, William J., Craft, Jennifer M. “Volumetric neuroimaging in Usher syndrome: Evidence of global involvement” American Journal of Medical Genetics 79(1) 1998.

Monday, October 8, 2012

Adding to the list: Recent Publications Describing Two New Usher Genes

by Jennifer Phillips, Ph.D.

As you may have noticed, I’ve been on a blogging hiatus for the past several months, but I’m back in the groove now with high hopes for more regular contributions. In the past couple of months, two papers have come across my desk that I immediately filed under “blog fodder”—reports of two new human genes that are linked to cases of Usher syndrome. This is exciting news indeed, not only because it tells us more about Usher, but because the techniques used to identify disease genes are becoming more powerful and effective all the time.

One of the most novel medical advances of the 21st century has been the emerging field of molecular pathology, that is, genetic analysis that correlates disease symptoms to a particular genetic cause. This type of analysis is most commonly initiated by testing the genetic makeup of individuals affected with a given trait (usually, but not always, an illness or disorder of some kind) and comparing information from their genetic code to that of other people with the same or similar trait as well as with others who don’t have it. Compared to genetic studies conducted in laboratory animals, all of which have been successively inbred such that their genetic makeup is fairly homogenous, genetic analysis in humans is notoriously messy. We vary from one another in millions of ways along each of our 46 chromosomes, and finding the key difference in the genetic code that can be linked to a specific condition—the signal of a problematic genetic change among the noise of all the normal genetic variation-- is formidable indeed.

Fortunately, new sequencing techniques are making this task a bit easier. One of the key differences is the development of high-throughput sequencing procedures. Identifying the millions of letters in any given genetic code used to be a fairly slow and expensive process, and as such there was a limit on how much of the code could even be sequenced. Geneticists had to be fairly selective about which part of the genome (which region of a given chromosome, for example) to examine, which obviously left most of the code unexamined and severely restricted the rate of discovering disease genes.

The new techniques that have emerged in the past 5 years that pretty much blow the doors off the old methods. Vastly increased amounts of genetic code can be read and recorded in a fraction of the time, and at lower cost. A most necessary subsequent improvement in the system, therefore, has been new analytical tools to assist in the organization and interpretation of these great piles of data.

So, with these new capabilities in play, along with an increased understanding of the value of molecular-level disease research, new disease gene discovery is certain to become a regular occurrence. Good news for the population in general, and good news for Usher families, many of whom do not yet have a genetic diagnosis to go along with their clinical symptoms of Usher syndrome.

This is not to say that genetic variation within human populations still isn’t a complicating factor in the pursuit of new gene identification. Regarding the two studies I’ll be summarizing shortly, it’s worth noting that both of the new Usher genes were identified from within populations with lower than normal levels of genetic variation due to marriages between related individuals, so the degree of genetic variation within the population under study can still impact the process. By way of providing some ‘Population Genetics 101’ context, a population with a limited number of reproducing individuals who marry exclusively within the group will show less genetic variation over time. Recessive genetic diseases—those requiring two defective copies of a particular gene in order for symptoms of the disease to manifest--will often occur at higher rates in such populations.

The first new Usher gene to be described this year is a factor called HARS. It was discovered in a culturally and genetically isolated population of families in Pennsylvania with a common Swiss ancestry. The characterization of this new Usher type 3 gene was part of a larger study in which five novel disease genes, including HARS were identified from these small, intermarrying populations. In this study, only two of the patients exhibited symptoms consistent with a clinical diagnosis of Usher type 3, along with some other traits (neurological and/or psychological problems) not previously described for USH3A patients, or, indeed, USH patients of any type. The two patients diagnosed with hereditary deafblindness were found to have the same mutation in their respective HARS genes. A subsequent analysis was conducted on a third patient from a completely different (though apparently similarly inbred) group in Ontario with Swiss origins, who is described to have had ‘identical’ disease symptoms. He, too, had the same mutation in HARS. So, while the sample size is small, the researchers have been able to establish that this particular mutation correlates with this particular suite of symptoms in all known cases.

Leaving aside the mental symptoms in these patients, the progressive nature of the hearing and vision loss led the authors to characterize the deafblindness as Usher type 3. However, the paper doesn’t’ specify whether the known USH3 gene CLRN1, was sequenced in these patients to rule out its involvement. The authors may have relied on the genetic code analysis to lead them to the common mutation, assuming (perhaps not unreasonably) that if there were indeed a mutation in CLRN1, their unbiased sequence analysis would have picked it up. But absent this information, it’s impossible to rule out other scenarios, such as one in which these two (or three) patients have a mutation in HARS that causes the neurological symptoms AND a second common mutation in CLRN1 that causes the USH3 symptoms. Even if all the symptoms are due to one mutated gene, one must consider whether the presence of neurological/psychological symptoms alongside deafblindness can be legitimately characterized as ‘Usher syndrome’.

Despite these lingering questions, it seems prudent to keep this gene HARS in mind as potentially causative of Usher syndrome. As this publication dealt strictly with the mapping of this and four other novel disease genes, little to no space was given to exploring molecular aspects of the genes themselves, like what sort of protein does HARS make? Where in the body is that protein found? How might defects in such a protein lead to Usher syndrome? And so forth. Given this new report, it seems likely that researchers are already at work on these questions somewhere in the world, so I’ll look forward to hearing more about HARS as data become available.

The second new gene to be described appeared recently in the prestigious journal Nature Genetics. This paper analyzed the gene sequences of five families in Pakistan with high rates of intermarriage due to cultural circumstances. The researchers discovered new mutations in a gene called CIB2, a factor previously known to cause deafness. With the added data provided in this paper, it’s now clear that CIB2 is actually one of the most common genetic causes of nonsyndromic hearing impairment in the Pakistani population. Additionally, in one of the five families investigated, a particular mutation in this same gene was found to correlate with symptoms of Usher syndrome type 1. As the CIB2 gene hasn’t been previously linked to Usher syndrome of any kind, it received the new assignment of Usher syndrome type 1j.

In contrast to the paper describing the genetic analysis of HARS, the authors of this CIB2 paper really went all out with molecular characterization. This, combined with the brutally short word limit mandated by the editors of Nature made for an incredibly dense read and about four times more supplementary figures and tables than what were presented in the main publication. Suffice to say, an incredible amount of work was done, in no less than four model systems, to analyze the molecular behavior of CIB2.

Highlights included conducting biochemistry to elucidate how the various mutations discovered might alter the protein’s behavior, and experiments showing that the CIB2 protein interacts with two other Usher proteins, Myosin 7a and Whirlin, which are affected in USH1B and USH2D, respectively. The researchers also developed an antibody against the mouse version of Cib2 to show that the protein is present in the inner ear and the retina of the mouse (model #1). They further showed that inhibiting normal Cib2 protein production in zebrafish (model #2) caused hearing and balance defects. They then turned to fruit flies (model #3) to examine the effects of depleting Cib2 on retinal cell function, and discovered defects in the fly’s ERG, as well as changes to the retinal cells themselves. Finally, they used two different cultured cell lines (model #4—and 5, really, considering one was a human cell type and one was from monkey) to conduct experiments on protein function.

It’s a lot of work by a large number of collaborators, and in sum the paper makes a strong argument that this really is a legitimate new addition to the growing list of Usher genes in humans. A few niggling doubts remain regarding whether the ‘vision loss’ part of the syndrome has really been amply demonstrated by the published work. I know, you’re thinking “Come on, Jennifer! They used fourFIVE different model systems! Over TWENTY figures and tables to make their case, and still you doubt?? Your standards are impossibly high!” Yeah. I get that a lot.

It’s understandable that they couldn’t look for visual function defects in the mouse, because they don’t have a mutant (yet—I’m sure someone’s working on a cib2 knock-out mouse as we speak), but I wondered why they didn’t do the visual function tests with zebrafish instead of going to fruit flies for the ERG. Invertebrate eyes, although they use essentially the same molecular tool kit as ours, are patterned very differently, and I would be cautious about drawing strong functional comparisons between the two with no confirmation from other vertebrates.

It’s likely that the authors have a perfectly legitimate explanation for all the interspecies hopping around they’ve done in their analysis (one disadvantage of the rigid short article format in this journal is that there simply isn’t room to elaborate on things like this), but absent such an explanation it looks like they had to try pretty hard to get some data showing that this gene actually plays a role in vision somewhere in the animal kingdom. This, coupled with some pretty unimpressive Cib2 antibody localization in the mouse retina—so unimpressive, in fact, that it didn’t make the cut of data to include in the main article, and instead was relegated to the obscurity of “Supplementary Figure 15”—leaves plenty of room for the possibility that there may be additional, undiscovered genetic factors in the small number of USH1J patients (4 individuals in the same family) discovered to date.

My nitpicking quibbles aside, the take-home message from both of these recent stories is that Next Generation Sequencing is making huge strides forward in identifying new disease genes. The more we know about, the more we can study. The more we can study, the faster our progress will be toward treatments. This has been a great year for Usher research worldwide, and it’s only going to get better from here. Watch this space for further updates to these and many other stories on the horizon.

References:

Puffenberger et al., 2012 PLoSOne

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0028936

Riazuddin, et al., 2012Nature Genetics: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2426.html

Wednesday, September 19, 2012

Don’t worry about it

By Mark Dunning

It is not easy for a professional to deliver bad news to a family.  Doctors and genetic counselors are people, too.  They have parents.  They have children.  They understand the impact of a diagnosis like hearing loss or Usher syndrome.  They don’t want to hurt or upset the family.  It is human nature to try to soften the blow.

Reading the blog post from Elise about Hunter’s diagnosis, I was reminded of our own experience with Bella’s diagnosis. 

When the newborn hearing screen indicated that Bella might have hearing loss, the doctor said “Don’t worry about it.  These tests are not very accurate.  We get false positives all the time.  It’s probably just fluid.”

When we first discussed the genetic test for Usher syndrome with our doctor, she said “Don’t worry about it.  It’s very rare and the chances of Bella having it are infinitesimal.”

My reaction to the advice of “Don’t worry about it” was different in both cases.  With the hearing loss, I didn’t worry about.  In fact, I so discounted it that I didn’t even go to the hospital with my wife and daughter for the more extensive tests.  My wife received the news by herself from the doctor then had to call me at work and tell me over the phone.  So not worrying about it didn’t soften the blow at all in the end.  It probably made it worse. 

I reacted completely differently to the Usher syndrome testing.  After hearing the description of a typical type I Usher patient, I knew Bella had it.  I immediately fell in to a deep depression that lasted for weeks.  I didn’t begin to pull out of it until we got the definitive diagnosis.  Not knowing, for me, was worse than the diagnosis.  So advising me not to worry about it was a waste of time.  I completely ignored the advice and dove right in to full on panic.

You get the point by now.  Advising families not to “worry about” the testing process is a tactical error on the part of health care professionals.  At best the advice will be ignored and at worst it will exacerbate the very response it’s trying to quell.  Here’s a recommendation for professionals faced with this type of scenario:

Acknowledge the fear
It’s OK to ask the family how they feel about the possibility that their child has hearing loss or has Usher syndrome.  This needs to be handled delicately, of course, with a proper amount of concern and gentleness.  Families need to know that concern about the diagnosis is not only normal, it’s preferred.  A concerned family is a family that cares and understands the gravity of the situation.

Offer Reassurance
After acknowledging that fear is a normal part of awaiting a potentially life-changing test result, families need to hear that no matter how the test turns out, they are going to be OK.  Neither hearing loss nor Usher syndrome is a death sentence.  People with Usher go to college, they get married, they have kids, they have successful careers, they have athletic success, and they travel the world.  People with Usher laugh, love, and live happy lives.  This is different than “Don’t worry about it” because it validates the inevitable range of emotions that will follow from such a diagnosis.  But advising families to consider other possibilities beyond the negative is a necessary next step.   

Be clear on when a family can expect the test results
The number one frustration I hear from families concerns the length of time it takes to get back genetic test results.  Usually their e-mails to me start with “We were told we’d get the results in a few weeks. It’s been two months and we haven’t heard anything.”  That’s bad.  If the goal is to reduce the anxiety a family feels, an accurate estimate of the timeline is essential.  And if things change, families need to be informed of the delay BEFORE the results were originally expected, not after. 

Make sure families understand how the test works
This goes hand in hand with when to expect the test results.  Families often get worked up about the blood test done for the genetic analysis.  Like most other routine blood tests, they expect a quick turnaround, like they’ll read a magazine in the waiting room then get the results.  Getting worked up waiting for the genetic test results is counterproductive, because these results will take weeks.  Families should know that.

Conversely, the ABR test done to confirm hearing loss IS immediate and definitive.  You learn the results right there in that appointment.  Families need to know that so they can plan appropriately.  In my case, if I had been more aware of how the ABR works, I probably would have joined my wife instead of going to work.

Schedule an appointment to go through the results in person
Taking all of the above concerns into account,  this is definitely news best not delivered over the phone.  Families will be scared or they will be numb.  They will have tons of questions or they will have none.  They’ll be accepting of the diagnosis or they’ll question the results.  Clinicians need to be able to read expressions and reactions and provide more information or support accordingly.  This is difficult, if not impossible, to do over the phone.

It’s also best to schedule the appointment before the results are in.  If a family receives a call saying “we have the results, we’d like you to come in” they are going to panic.  It’s bad, they’ll think, otherwise they would have just told us over the phone.  Either that or they’ll pester the caller for the results.  Scheduling the meeting in advance avoids these issues.

Putting it all together
So here’s what a professional who’s paid attention to these pointers might say (in brief):

“I understand you may be anxious.  That’s a normal reaction.  Most families feel that way.  We’re going to send you down to the lab to draw some blood.  You’re not going to get the test results for approximately six weeks. So let’s schedule an appointment right now to go over the results six weeks from now.  If the timeline changes, I’ll call you in advance and let you know.  And remember, no matter the test results your son/daughter/mother/sister/brother/uncle can live a full and happy life.  

Wednesday, September 12, 2012

Failure is Not an Option

by Mark Dunning

I was reading the last post from our guest blogger, Elise, and I was struck by one sentence in particular.  Referring to about her son’s diagnosis, she wrote “Two weeks later, he failed the hearing test again.”  To explain why that particular phrase stuck with me, let me tell you three quick stories involving some other well-meaning, kind hearted people:

Story number 1:  My wife works with kids with hearing loss.  She started the Decibels Foundation about 10 years ago, back when we thought that hearing loss was the only issues my daughter was dealing with.  Julia started Decibels to help kids with hearing loss get started on the right foot and to help parents to adjust to having a child with hearing loss.  She’s worked with hundreds of families and professionals now and knows all the lingo.  She’s as much a professional as a parent at this point and she’s great at what she does.

Anyway, she was telling me about a kid that just joined the program.  The kid was almost three years old and had just been diagnosed as having hearing loss.  Now, Massachusetts, our home state, has had newborn hearing screening in place for more than a decade.  Kids with hearing loss should be identified in the hospital right after birth.  Thankfully, it’s odd when a kid doesn’t get diagnosed until later.  So Julia was incredulous.

“Why didn’t this kid fail the newborn hearing screen?” she wondered.

Story number 2:  Got an e-mail from panicked mom.  Her kids had just been diagnosed with Usher syndrome.  They were older.  Not quite teenagers.  She had been asking doctors for years about her kids’ balance issues.  Wasn’t it strange, she asked, that they have hearing loss AND balance issues?  She was really beating herself up about not mentioning the night vision issues she suspected.  Maybe that would have helped the doctors diagnose Usher syndrome earlier.  But why would she mention it?  She thought she had a definitive diagnosis.  You see, years ago her kids had been genetically tested and they had passed.  How come, she asked, didn’t they fail?

Story number 3:  We’re working to develop questionnaires for the Usher syndrome registry.  One we would like to develop is on hearing loss.  We’ve been fortunate enough to have the assistance of the Otolaryngology staff at a leading children’s hospital helping us out.  They are terrific, willing to share any knowledge and documents they have.  One of their evaluation forms had a section on the newborn hearing screen.  Did the child pass the newborn hearing screen, the form read, or fail.

Did you see the common element there?

Kids don’t FAIL newborn hearing exams, OK?  This isn’t like a driver’s license test.  No one applies for hearing, fails to study adequately, and is not awarded it.  The doctor doesn’t sit in the chair beside the baby with a notepad and pencil deducting points.  And no one FAILS a genetic test.  The only way you could fail a genetic test was if you were an alien and somehow lacked DNA.

Look, maybe I’m overly sensitive to these things. I was told my daughter was a failure before she’d filled her first diaper. Straight out of the womb, she was chubby and could hit octaves that rattled the windows. Her destiny was obvious to me. She was going to be an opera singer. Within an hour of her birth, I knew she was bound for the stage. The only hard part was going to be the audition at Juilliard. But before I could even find the application online, I was told she had failed, failed the newborn hearing screen, failed without uttering a single note.

This terminology drives me nuts and, in my humble opinion, it does so with good reason.  Failure implies finality, a definitive declaration.  But in both cases, the newborn hearing screen and genetic testing, the test is just the beginning of the journey.  It is completely counterproductive to put families in the state of mind that the game is over.  Your kid can’t hear, that’s it.  Turn in your paper at the door.  Or, sorry, your genes aren’t ‘normal’.  That was your one chance and you blew it.

Let me make clear that I am NOT upset with the people that used the f-word.  I respect all of them and, certainly in the case of my wife, love them dearly.  But there is a practical point to this rant.  Both hearing loss and Usher syndrome are traumatic and foreign diagnoses for most people.  They are shocked by them, staggered and stunned by them.  And in both cases, families benefit from quickly addressing them.  Kids with hearing loss that plan to use spoken language benefit most from access to sound and speech therapy at a young age.  And people with Usher syndrome can benefit from mobility training and may be able to prolong their useful vision by quickly changing their diet and/or wearing sunglasses, among other things.  In other words, post diagnosis, you need to act fast.  We don’t want families sitting in stunned silence, like the losing team at the Super Bowl (a painful analogy for a Patriot fan, by the way).

So anything we can do to soften the blow of the diagnosis and get a family functioning again is beneficial.  The first step to addressing the issues associated with hearing loss and Usher syndrome is accepting the diagnosis.  When families accept who they are and no longer mourn what they aren’t, they move forward.  That process can be accelerated, ever so slightly, by using better terminology when communicating test results.
 
What should you say?  It’s pretty simple.  For the newborn hearing screen:  “The newborn hearing screen has indicated that your child should have more testing done on his/her hearing.”  When the answer is definitive, “Your child has a profound, sensorineural hearing loss (or whatever the test indicate to the loss to be).”  For Usher syndrome: “You have Usher syndrome type 2a (or, again, whatever the test indicates).”
 
Those statements should be followed by all the things you should do next.  Contact Early Intervention, see another specialist, or any number of other things.  Also include the list of things that the kid with hearing loss or the person with Usher syndrome can’t do.  I’ll help you out.  It’s a short list.  NOTHING!
 
As it turns out, my daughter really isn’t going to be an opera singer.  She will not be going to Julliard.  But that’s not because she has Usher syndrome and hearing loss.  No, she’s not going to Julliard because she prefers barns over auditoriums, muddy stalls over concert halls.  She likes to sing and even sang in the school chorus for a couple of years.  She learned a couple of things from the experience:  She’s a lousy singer who hates opera.  Like Usher, she probably got those genes from me.
 
So here’s the bottom line.  Failure is not an option.  You have hearing loss.  You didn’t fail to have hearing.  You have Usher syndrome.  You didn’t fail to have different genes.  Be proud of who you are and dream big.  Julliard awaits! 

Friday, September 7, 2012

Hunter's Story

By Elise Faucheaux

Editor's Note:  From time to time we invite guest bloggers to share their Usher syndrome stories and insights.  Elise Faucheaux is 28 years old and currently lives in Youngsville, Louisiana with her husband Blair and their son 18 month old son Hunter.  She writes regularly about her experiences raising a child with Usher on her blog, Angelic Ears and Eyes.

When I was a little girl, I remember playing with all of my cousins at my Maw Maw’s house. I remember hopping and running up and down the dark carpeted stairwell that lead to the 2nd half story of their house. I remember my deaf cousin who couldn’t see very well in the dark. Unable to hear, he also had difficulty seeing in the dimly lit stairwell.  We were forced to speak to him through his brother and sister, who would sign to him for us as they guided him up and down the stairs while we played.

I knew at the time that he was deaf, but he was still one of us. No implants, just communicating through sign language. His younger brother and I were very close growing up, but he didn’t speak to me very much about his condition. And sadly enough, I can’t say I ever really tried to understand what all was involved. I knew he was born deaf, and I knew he was losing his vision. It wasn’t something that was openly discussed very much amongst my immediate or extended family members.

As the years passed, my mom would mention to me things about how he was going to see this doctor and that doctor, and possibly getting retinal implants. Again, I didn’t ask too many questions. Selfishly wrapped up in my own life, I felt bad for him but was not educated enough to know what was really going on.

I remember driving home from a class at UL one day, and my cousin was trying to open the door of a fast food restaurant across the street from campus. My heart dropped when I noticed he was trying to figure out which side of the door the handle was on. I couldn’t get out of my car in the middle of the five lane street, but as with all things, he figured it out before the light changed for me to leave. All the times the words Usher Syndrome ran by me when talking about my cousin… they never really had any real meaning. Half of the time I couldn’t even remember the name of what he had. As I got older and he was about to graduate college, I knew what he was about to accomplish was amazing. And I remembered it from then on. My cousin, with Usher Syndrome, is graduating college. Something that not every “normal” person can say they have accomplished in life. 


Hunter
Fast forward five or so years to when my son, Hunter, was born in March of 2011, a perfect, tiny little angel. I was going to show him the world. The morning we were being discharged from the hospital, they came to perform a routine hearing test that they perform on all new born babies in the state of Louisiana. The thick accented lady stood there with her box and didn’t say a word. She was concentrating very hard but not saying very much. She finally spoke up and said that the room we had was the worst one in the hospital because of the vent in the room. It rattled a bit and sometimes interfered with the testing. As the pediatrician came in to check on Hunter, he agreed. It was probably some sort of interference, or the age old line of “fluid in his ears”. When she asked if we had a history of hearing loss in our family, I paused for a moment, without a worry in the world and said well yes, my first cousin has Usher Syndrome. Ah huh, she noted and that was that. Come back in two weeks to retest, she said. I remember telling my husband, if he is in fact deaf, that’s nothing. There are far worse things in this world than being deaf. But Usher Syndrome?  It never, never, ever crossed my mind as a possibility. I was too uneducated about my cousin’s condition to even realize that there was a possibility that it was Usher Syndrome. 

Two weeks later, he failed the hearing test again. What a blow that was. “Your son is profoundly deaf” the audiologist said. Not having much medical language in my vocabulary I asked if that meant he was deaf, and she shook her head and said yes, it does. And now that I look back on it, how little it is in comparison to what was lying ahead of us. 

We were on the road to getting Hunter cochlear implants. He was not able to receive them until after he turned one, so it was a waiting game until then. In the meantime, we met with a genetic counselor recommended by Hunter’s pediatrician. We went through family history and created a family tree for Blair and myself. Being that Usher Syndrome ran in my family and there was no trace of it in Blair’s family, but a possibility of French/Acadian background, it was determined that there was a 25% chance Hunter had the Usher gene and would in fact test positive for Usher, there was a 50% chance that he carried the gene and it would never show up, and there was a 25% chance that he didn’t carry the gene at all. They also did a small physical examination on Hunter (this was at 5 weeks old). They noted that he had head lag and wasn’t tracking the light very well, but when they tested his eyes, they were perfect for a baby his age. Being first time parents, we didn’t let it get to us. He was bound to catch up. I hate to sound like a broken record, but we were just too uneducated. We didn’t realize that babies with Usher Syndrome show vestibular (balance) issues from birth. Thinking that there was nothing we could do to stop/prevent Usher Syndrome, we opted not to get the genetic testing done right away. What we didn’t know couldn’t hurt us. We wanted to deal with his hearing loss and getting the implants, with all of our time and attention doing just that.



During that year we had physical therapy and occupational therapy in the house, and a special teacher. It took a very long time for Hunter to sit on his own. And in fact to this day he still sits in a W position because I think he was determined to sit, and it was the only way he could balance himself well enough to stay up by himself. His delays weren’t a huge concern to us because we knew that some strictly deaf babies had balance issues as well. Well, towards the end of 2011, just a few months before Hunter’s CI surgery, I was reading up on some of the CI group messages. Another mother had emailed the group about her baby who was born deaf and had balance issues. He wasn’t holding his head up, he didn’t sit up for a while, etc. It drew my attention very quickly. Another very well educated mom responded that babies born profoundly deaf with balance issues have a 35% chance of having Usher Syndrome. Talk about GUT wrenching. I didn’t know what to think at this point. But something in me was very uneasy.
 
So I then emailed this mother about Usher Syndrome (being that she has two daughters with it) and she sent me a ton of information to read over. She also told me about Vitamin A treatments that have prolonged her daughters’ vision loss. The minute I read this I had to know more. She informed me that something like that could not be started until the age of 6, so if we were going to find out, to do it by the time Hunter turned 6. Even with all of her support and all of the information and even hope she had sent, I felt so alone. I didn’t want to share this with my husband because Hunter had been doing so well lately with his milestones.  Hunter was sitting up, so close to crawling. I didn’t want to bust my husband’s bubble. So I cried, and I cried and I cried while trying to figure out how to deal with what I just had been handed. It scared me to death, because my gut instinct was that he had it. I told my mom, and she kept reminding me that we didn’t know anything for a fact.
 
I finally broke down one night and told my husband. I let him read the emails that I had received, and he said that if we were going to test before he was 6, he wanted to test him now. So that was that. I made the call back to the genetic counselor and after months and months of back and forth, we scheduled the lab test to draw the blood on April 4th of this year. It was 1 week after Hunter’s CI surgery, so we had a checkup and the lab appointment in New Orleans all in one day. They told me a month and the results would be in.  Boy, was that month a killer.
 
Elise and Hunter
I think I grieved more in that one month than I did after getting the results. I think I was emotionally preparing myself for the call. And then it came, May 11th. We tested for the Acadian/French strand of the gene, and it came back positive. Usher 1C. My baby has Usher 1C. I left work in tears. I drove straight to the sitter to pick him up and go home. I just wanted to be with him, to hold him and tell him 1,000 times that I loved him. I felt so sorry for him. And he had no idea what had just happened. He fell asleep on me that night, and I couldn’t have asked for a better ending to my day because in the end, I had my baby boy with me. Not with a terminal illness, but with life defining disease that we are yet to find a cure for. 
 
Although it’s not directly affecting Hunter yet, we are on the road to help find a cure. We attended the Usher Syndrome Coalition conference back in July, and when we walked in, it was as though all I saw were white canes and seeing-eye dogs. Everything else was a complete blur. I had to step out for a minute because it had hit me like a ton of bricks. All I could think of was what if this is Hunter? What does the future hold for my baby boy? As a mother, it’s my job to show him the world, to teach him everything I can about life, and this disease is trying to limit what Hunter will be able to accomplish in his lifetime. There are rumors out there that there will be a cure before the time it starts to affect Hunter’s vision. But what if there’s not? What will Hunter’s quality of life be like? 
 
I have said this before, but I have to remind myself of it every so often. Usher Syndrome isn’t going to define our lives, and I will single handedly make sure of that. We will give this syndrome a new definition and hopefully give people out there a new hope for what life can be like with Usher Syndrome.

Tuesday, June 19, 2012

Anxiety and Usher Syndrome

by Mark Dunning

This is your day.

You wake with fright. Did you oversleep? It’s been gnawing at you all night. You knew you had to get up early because the car service is coming to pick you up at 8:00 AM and you don’t want to miss it. You slept poorly because you knew you had to get up. Every hour through the night you’d pop up and ask your wife if it was time to get up. She finally hit you with a pillow and went to sleep on the couch because you were driving her crazy. But can she hear the alarm from the couch? Or was she now so tired from you poking and prodding her that she slept through it? Or did she simply smash the clock out of frustration just before she slammed you with the pillow?

You shuffle down the hall to the kitchen and start to make breakfast. You find a bowl and pull out the cereal box. Then you go to fridge and freeze. Your fingers start to shake and sudden heat races through you. Beads of sweat form on your forehead. Your heart starts to thump.

You’re out of milk. How could you have forgotten that?

A hand touches your elbow. You hear your wife’s voice, her breath warm on your ear.

“What are you doing up? It’s 5:00 in the morning. Go back to bed.”

“We’re out of milk,” you say, your heart still thundering. Your voice feels shaky.

“I know,” she replies gently, “Don’t you remember? You said you’d pick it up after your doctor’s appointment. We talked about it last night.”

The room is swaying now as you nod. Of course you remember. You’re out of milk. You need to pick it up after the doctor. It invaded your dreams all night. Every time you woke up, it was the first thing you thought about. You’re out of milk and you need to pick it up.

“Are you sure you can’t get it?” you ask, feeling smaller with each word.

You can feel her sigh, but you can’t tell if she’s aggravated or concerned.

“I told you I have to work all day and then I have that thing this evening,” she says, “I’m not going to be home until late.”

You nod understanding. You both know you have a doctor’s appointment today and then nothing else scheduled. You should go get the milk. It only makes sense. Besides, you worry about your wife. You are both getting older. She’s going to be out late as it is. You love her. You don’t want anything to happen to her. My God, what would you do without her?

She puts her arm around you and kisses your cheek.

“I could pick it up on the way home? I could find a 7-11 or something like that?”

The thought is a relief for a moment, but then it comes crashing down. She does everything for you. She works. She cooks. She cleans. She drives you both everywhere you go. You need to do this for her.

“No, no, no,” you say, “I’ll get it.”

She goes back to sleep on the couch. You go into the bedroom and sit on the end of the bed. You spend the next two hours planning to get the milk. You need to be ready early. You need to get out on the sidewalk by 7:30 because you remember that time that the car service arrived 20 minutes early and left before you came out. What if they have the time wrong? You told them 8:00. You know you did. Did they write it down correctly? And what’s the date? Did you tell them the right date? Maybe you should call and check, just to be sure.

What’s the weather? Is it going to rain? You’ll need to find the umbrella. You can’t go to the store soaking wet. No one will want to talk to you. Oh God, what if now one will talk to you? What if you can’t find anyone who knows where the milk is?

Calm down, you tell yourself. It’s a grocery store. Someone will be there. Ask them to find a store employee. Show them your cane. Someone will help you find the milk.

You lay back on the bed. You feel exhausted already. You could happily stay in bed all day and not go out at all. You’re not hungry any longer. You have no energy. Your body feels heavy. You need something to pick you up. You need coffee.

If only you had some milk.

______________________________________

The above scenario is an amalgam of discussions I have had with adults with Usher.  They have asked me to write about it, to let people know it exists, to let others know they are not alone.  They don't like to talk about it (though at least one has written about it in this blog).  I have not asked, but I believe it is because they are embarrassed by it.  No one likes to admit that they are nervous about anything.  But make no mistake.  Anxiety is a big part of having Usher syndrome.

Anxiety and depression are close relations. The vision loss and the hearing loss can make it difficult to get around, to accomplish everyday tasks. People with Usher start to fear simple things like taking the bus or going to a restaurant. I already see this with my daughter. She fights like a cat in a bathtub when we tell her we’re going out to eat. She says it’s just because she doesn’t want to go. She’s 13 years old, so I’m sure that’s part of it. But the larger part is that restaurants are dark and loud. She gets anxious. What if she can’t see the menu, can’t read the waiter’s lips, can’t hear the conversation over the din?

We still make her go. We do so because we don’t want her to be cut off socially. We don’t want her anxiety to lead to depression. But I don’t know anything about this stuff. I’m just her dad. We always try to include her, to find restaurants that are quieter, brighter, to help her with the menu and the waiter, to repeat conversations when she misses parts. But I know her experience at the restaurant isn’t the same as ours and I know it’s only going to get harder.

This is problem that people with Usher face. Everyday tasks and events slowly become more difficult. They take more planning, more effort. More things can go wrong and the first time they go wrong they come with a feeling of panic and terror. So, like any logical being, you try to avoid those things that can go wrong. But what do you do when some of the basic functions of life are the things you want to avoid? What do you do when you are worried about going to buy a carton of milk?

It’s this logical avoidance due to anxiety that leads to depression. One day you look up and you’re not going out at all. You don’t go to restaurants or movies or night clubs or sporting events. Your friends don’t ask because they know you’ll just say no. Life becomes less rich, less absorbing, more of something you suffer than enjoy.

Friends and family can help by assisting with difficult tasks and encouraging participation. You need to be careful, though. It is one thing to encourage someone to overcome their anxiety that the pool is too cold to wade in and another to push them out of an airplane to get them to overcome their fear of falling. One will probably help, the other probably will make the anxiety worse.

That’s why it’s best to seek the advice of a professional. If you or a loved one are finding that your anxieties are overtaking your ability to cope with them, seek help. They can teach you techniques for overcoming your anxieties and getting back to living your life the way you want to.

These resources can help.
http://www.mayoclinic.com/health/anxiety/DS01187
http://www.apa.org/topics/anxiety/index.aspx

Good luck.