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Monday, January 24, 2011

Follow-up On The Need for an Usher Registry

by Mark Dunning

The registry idea is clearly a hit. We’ve gotten more comments on this posting than any other. Rather than respond to each individual comment (and since I clearly forgot some important details), I figured I would do another post with answers to the most common questions.

Who would administer the registry?

The intention right now is to have the Coalition for Usher Syndrome Research build and administer the database, though that could change. The Coalition is a 501(c)3 not for profit organization dedicated to supporting Usher syndrome research by engaging families in the process. The Coalition has a web site [] (which is how many of you found this blog) and already maintains a database for the Usher Syndrome Family Network. The intention would be to hire staff and to engage volunteers to administer and promote the registry.

Why not use an existing registry from a larger institution with more resources?

There are a number of reasons. 1) There are few Usher specific institutions out there and none with any real size. That means that we would be lumped in with other conditions where the goals of Usher families might not always be the top priority. 2) Universities, hospitals, and fund raising organizations all compete at some level. While most try to be open in their sharing of critical data, that’s not always the case. 3) Many of these larger institutions have a lot of rules governing the collection and sharing of data that might restrict or delay the availability of that data. We want to be quick and nimble. Remember, the goal here is to quicken the pace of research.

Who would ‘own’ the data and what entities would have access to this data?

The Coalition for Usher Syndrome Research is ultimately a family focused organization (6 of 11 board members either have Usher or have family members with Usher including, for purposes of full disclosure, me). The IRB would have a similar makeup. Usher families would determine the access to the data so Usher families would ultimately ‘own’ the data. As such, any legitimate researcher or support organization with a legitimate need would have access to the data. Of course, data sharing would have to meet HIPAA guidelines for confidentiality, but it’s hard to imagine a scenario where any legitimate organization with a desire to advance research that would help Usher families would be denied access to the data by those same families.

Great idea. How can I help?

Remember the first question about administering the database? Well, follow this logic: We won’t have to hire anyone if we get volunteers to do it. If we don’t have to hire anyone we don’t have to get the funding to hire someone. If we don’t have to fund a position that money can go to the development of the registry rather than to pay someone to manage it. And finally, if we don’t have to raise the money, we can focus on building it rather than paying for it. Make sense? So…

Volunteer to help administer the registry: We need people to help take questions about how to use the site, to schedule IRB meetings and set the agenda for those meetings, to take data requests from researchers and to help fill those requests, and to help those with low vision to enter their data whether it be online or over the phone or via a visit to a home to write it on paper. If you help administer it, the registry will begin paying dividends sooner

Volunteer to help with the design, testing, and quality assurance of the registry: When we begin building the system we’ll need families with Usher to help with the user interface design, to test the ease of use, and to ensure that everything works as intended.

Volunteer to promote the registry: The key to the success of the registry is getting families involved. To capture the information of every family we first need to let every family know about its existence and explain its importance. That’s going to take a lot of people spreading the word to make it happen.

Enter your data: Not just on day one, but going forward as well. We’ll most likely have new questionnaires coming online over time. The more you tell us about yourself, the more it helps us learn about the progression of the disease.

Donate to the cause: I hate to even mention this because it is not the intent of this blog to solicit funds. However, there are a lot of busy people out there who would prefer to help the effort monetarily. If you are one of them, you can contact me directly to discuss how you can help. I can be reached at

Obviously that same e-mail works for volunteering as well, which, quite frankly is more important than the financial support.

Thanks to all those that submitted comments and keep them coming!

Friday, January 21, 2011

Why We Need an Usher Syndrome Registry

by Mark Dunning

Let’s start with some good news. There are a number of treatments nearing clinical trial that could potentially help people with Usher syndrome. There are an even greater number of areas of interest that researchers think might be the source of future treatments but which are as of yet fairly unexplored. In other words, there’s a lot of hope for the future for families with Usher syndrome.

But the pace of discovery is slow, much slower than most families would like. I won’t discuss all of the reasons here today, because there are a lot. Instead, I’m going to focus on one of the main reasons:

Researchers have access to too few Usher syndrome patients and have too little information about most of those to whom they do have access.

Now, again, there are reasons why we know such a small percentage of information about a limited number of Usher families and, again, I’m not going to get in to that today. Today is about one step to solving that problem.

The idea is to create an Usher syndrome registry with the grand goal of identifying everyone with Usher syndrome in the world. OK, so we won’t actually find everyone, but that really is the goal. After all, how can we help them if we don’t know who they are?

The registry would be voluntary and secure. A family would only have to submit what they were comfortable submitting. At a minimum we would need a name, type of Usher, and a means of contacting the person. Families would be given the option to supply more demographic information if they chose (address, age, place of birth, doctor’s name, etc.) In keeping with HIPAA guidelines, information that would allow viewers of the data to identify an individual would be accessible only on a need to know basis by the few people that administer the registry.

Once we gather this pool of Usher patients, researchers could begin to ask them questions via questionnaires. The information gathered would help us to learn about the true nature of how the disease works. For instance (and I’m making this up here), a question about how many apples you eat a day and a question about your rate of vision loss might just show that people that eat more apples appear to have a slower rate of vision loss. If we were able to ask that question of everyone with Usher syndrome, we’d have a pretty good idea if apples would be worth investigating as a potential treatment for the vision loss component of Usher syndrome. Again, I making this up. We have no idea if apples help. But that’s the point. We have no idea because we have no means of asking the question. A registry would give us that means.

Questionnaires would be subject to strict review before they were presented to families. An Institutional Review Board (IRB) made up of well respected, experienced Usher researchers as well as Usher families would scrutinize the questions, the purpose, and the value of the questionnaire. Once approved, registered families would be given the option of filling out the questionnaire. They would not be required to do so. And, again, the researchers would have no access to the registry information so they could not coerce anyone to fill out a particular questionnaire.

Data gleaned from these questionnaires would be available to any credible researcher. Again, a request for data would have to be approved by the IRB but the data would be owned by the families, not by any institution or researcher. We want as many researchers to have as much data as possible. Limiting access only limits the pace of treatment development.

As clinical trials begin for treatments, researchers could ask the IRB for the right to contact potential candidates in the registry to gauge their interest in participating in the trial. The researchers would never be given demographic information, however. In keeping with HIPAA requirements, they could request that the administrators of the registry contact individuals that meet certain criteria (age, type of Usher, location, etc.). The researcher would be asked to develop a one page document describing the trial and the participation requirements. This would be given to the registry administrators. The administrators would pull the appropriate list and the administrators, not the researcher, would send the families information about the trial along with the contact information for the researcher. It would then be up to the family to determine if they wanted to contact the researcher or not.

So let’s look at where this registry get us:

1) Families know that they will hear about any treatments going to trial that might be appropriate for them.

2) Families can not only contribute to the search for treatments, they can increase the pace at which they are found simply by sharing information about themselves.

3) Researchers can have access to information about Usher syndrome and have a means for answering questions which does not exist today.

4) Funding for research would be easier to attain because researchers would be able to better demonstrate the potential correlation between a particular activity (eating apples, say) and a positive outcome (better vision longer).

5) Pools of potential candidates for clinical trial would be readily accessible.

But wait, there’s more. This registry could also be used to connect families. The Usher Syndrome Family Network could be incorporated in to the registry. A family that registers could choose to share the contact information automatically with other Usher families. And because the registry is secure, they could choose to share it with only certain Usher families (only families with children under 5 or families in the US, for instance). Better still, since the registry would be accessible online, a family could change its mind at any time and decide to no longer share certain information or to begin sharing certain information.

Beyond research, such a registry could be used to contact families about conferences or support networks or just about anything else deemed appropriate. But, again, any contact with the families would have to be approved by the IRB so people in the registry don’t get spammed and the communication would come from the administrators to protect the identities of the families.

Can you tell that I like this idea? It addresses the fundamental problem of access to information for both families and researchers. If it’s done right, it can not only be secure and safe but it could also accelerate the pace of discovery and help bring treatments to our loved ones more quickly.

Tuesday, January 11, 2011

How to Be a Bad Parent

by Mark Dunning

It’s winter here in Boston and that means runny noses, Nor’easters, and home skating rinks. For those of you in warmer climes, the concept of a home rink is probably foreign so I’ll explain how it works.

1) Pick out a spot in your yard which is open and grassy for your home rink. This spot will soon be open and not so grassy.

2) Put up a veritable shanty town of boards and plastic sheeting in the open and soon-to-be-formally grassy area.

3) Run out the hose and pour untold amounts of water into said shanty town until it is roughly 4 inches deep everywhere. Of course, since the open soon-to-be-formally grassy area is most likely less than level, expect bare plastic in one corner and a foot and a half of water in the other.

4) Pray for cold weather so that the ugly swimming pool turns into an ugly skating rink and kills all the grass beneath it.

5) Spend the next eight weeks either shoveling snow off the ugly skating rink or sinking your arm elbow deep into frigid water in an attempt to duct tape the latest leak caused by errant skate blades and vindictive moles.

6) Skate twice.

7) Remove the eye sore, spread grass seed, and repeat when the first snow flake flutters past.

Bella's hockey playing little brother
Last night was the first of those two times that we’ll skate on our home rink. My daughter Bella and my son Jack spent a couple of hours on the ice. I mean that quite literally for Bella. Jack plays hockey. Bella plays Zamboni. She spends most of her time either in a heap on the ice or suspended in the air about to become a heap on the ice. Jack stickhandles around her like she’s a giant highway cone. Of course she doesn’t always stay in the rink when she falls. Often she’s bottom up in a snow bank having gone screaming over the side. We pull her loose by her skate like she’s a cork in a wine bottle, help her clear the snow from her helmet, and send her back on her way.

It doesn’t help that she wears skates that are either three sizes too big or two sizes too small. We try to buy her skates every year, but she’s growing like a kudzu these days and it’s tough to keep ponying up for skates she’ll wear twice before she outgrows them. So she borrows her mother’s skates which look like two white battleships on her feet.

As you might imagine skating and Usher syndrome don’t go well together. The rink is lit by spotlights from the house and by several work lights, but there are lots of shadows out of which the aforementioned hockey playing little brother darts. And those giant skates give her lots of room to wobble. We pad her up well, with hockey pants, shin pads, elbow pads, and a helmet complete with a cage. She looks more like Jason Voorhees than Dorothy Hamill. If her bottom is especially bruised from previous crash landings, we might stuff a couch pillow in which gives her the appearance of a giant baby with a loaded diaper. Twelve year old girls, especially those that attend pedicure birthday parties these days, love looking like Frankenstein’s toddler.

Ah, but here’s the thing. She keeps going out. Every year we build the eye sore and every year we buy more padding and every year she goes out, gets airborne a few dozen times and lands like a Cessna in a gale. In between deposits in the snow bank, she’s learned how to snow plow to a stop, wobble her way backwards, and even to do a crossover. Again for those in warmer climes, a crossover is the act of stepping one skate across the other. It’s used to maintain speed while turning. You need to lean to the inside a little, stand on one skate for an instant, and lift the other over all while moving at a pretty good clip. Like skating, it’s not something a person with Usher, at least Bella’s type 1, is supposed to be able to do. Yet she does it.

The point is this. It is hard for family members to know where to draw the line on safety versus desire when it comes to our loved ones with Usher. I write this from the perspective of a parent, but I hear similar concerns from children with Usher parents, from spouses, and from friends. We don’t want our loved ones to get hurt, physically or emotionally. But there is a great risk to being over protective. Separating people from their dreams and desires is often more harmful than letting them risk failure. What’s the point of being alive if you’re not allowed to live?

We have one rule for the home rink: “No dyin’ and no cryin’”. In other words, you can do anything you want as long as you don’t kill yourself or get hurt/hurt others to the point that you/they cry. Seems to me like that’s a good measure for people with Usher syndrome, too. As long as there’s not a high percentage risk of death or injury, have at it.

So here’s my home rink worthy advice: Pad them up and send them out. Do what you can to make them safe as long as it falls short of discouraging them from trying. They will figure out when or if it’s time to quit, but it will be their decision, not yours. It’s a lot easier to live with a choice when you’re the one making it. Trying something they’ve always wanted to try, tasting life as it were, is often all that is desired. They might find themselves skates up in a snow bank but at least they got on the rink. Failure IS success when the alternative is never getting a chance to try. And you never know, they might just learn to do a crossover.

As for Bella and skating, I suspect she’ll decide sometime soon that she doesn’t want to skate any longer. She’s almost a teenager and falling like the scarecrow from the Wizard of Oz while bundled up beneath a crash helmet just isn’t going to work for her. She’ll want to be more Mariah Carey and less Jim Carrey. One day soon I’ll ask if she wants to skate with Jack and me and she’ll give me the stink eye and go back to texting her friends. That’s fine. That’s what all young girls do to their dads, whether they have Usher or not. It might not be my choice, but it will be hers.

Wednesday, January 5, 2011

Should Auld Acquaintance Be Forgot?

by Jennifer Phillips, Ph.D.

It’s New Year’s Eve as I write this. The end of a week of feasting, hilarity, family bonding and general merry-making is nigh, and we have just one final celebration in to get through before we start reinstating regular bedtimes, diets, and schedules again. I haven’t been completely out of touch with the world of science, however, as I’ve been working long hours preparing a manuscript for submission. It’s a labor of love, to be sure, combing through pages and pages of carefully laid out results, multi-panel figures, looking for opportunities to make tiny improvements and (hopefully) spotting glaring omissions before the reviewers find them. It’s the summation of several years’ worth of work, done by many collaborators around the world. In short, my co-authors and I have much time and effort invested in this project, and I’m hopeful that it will be of some significance to the greater Usher community when it finally sees the light of day.

These final labor pains have prompted me to reflect upon an exchange I had a few weeks ago. As I have mentioned previously on this blog, I volunteer for scientific outreach opportunities quite often—school tours, demonstrations, Rotary Club lectures—I’m there, spreading the science-y goodness around. From time to time people in my personal realm express some interest in seeing what I’m up to in the lab, and I’ll cheerfully invite them in for the nickel tour. So, I was not put out in the least when an acquaintance emailed me to ask if he might schedule a time to take a tour of our research facilities. I readily agreed, and we exchanged a few messages about good dates and times. And then…it got sort of weird. The e-mails continued, but a curious tone of reluctance began creeping in. Was I sure it wasn’t too much trouble? I must be very busy…Really, it seemed so selfish to take up my time with such a silly request…I should feel free to cancel…and on and on like this. I responded to each one with a brief and chipper ‘no worries! Come on along!’ sort of message, but I was beginning to wonder what was up. The last communication, though, really left me speechless:

“Before I let another word appear on the screen, I have to admit something about my own philosophical/epistemological make up:

I don't know three things about the world around us. And even though I enjoy tinkering with the methods and conventions devised and developed by human beings, it all seems kind of tinny to me. So I'll understand if you would like to withdraw the open invitation for my visit.”

Um…ok. So, trying to understand the world—to ‘know’ things that might have some impact on reality—is, apparently, considered a fairly ineffectual use of time by people of a certain ‘philosophical/epistemological make up’. In other words, this acquaintance doesn’t really respect what I do, and seems to think efforts to understand anything are futile, but I guess I have to give him credit for being up front about it. Imagine how silly I’d feel dragging him all over the lab facilities, gushing about how many brine shrimp we produce each day to feed the many thousands of zebrafish housed here, or what my latest histological experiments had revealed about the genes I study, not realizing in my blinkered, materialistic stupor how ‘tinny’ it all sounded. Yes, ‘tinny’. Defined (I assume, as this is the only definition that makes sense in the context of the original message) as weak, flimsy, or shoddy. Yeah.

Figure 1:  Captain Picard probably gets e-mails like this all the time.

I’m a little piqued about this, can you tell? I’m mad because it’s just so dang passive-aggressive and rude, for one thing. I have great respect for a wide array of different philosophies. However, the whole post-modernist ‘you can’t really know anything’ position really puts my teeth on edge, as it is so utterly antithetical to every scientific discovery—great and small—that has ever sought to understand or improve the human condition. Are there universal wonders and conundrums beyond our comprehension? Heck yeah! Does that mean we, as a species, should just lie back, contemplate the Mystery and quit trying to understand any of it? Heck no!

I’m mad because of the ignorant bliss conveyed by this acquaintance’s admission. He’s spared the tedium of thinking about scientific questions because other people are doing it for him. Other people are supplying his engineers with updated figures on the tensile strength of new materials; his computer designers with the technology for building faster processors; his physicians with the latest research on physiology and molecular biology. To some degree we’re all guilty of this—I freely admit that I don’t know very much about how my car engine works, for example. But lots of people do know how it works at a level of detail sufficient to repair or build a car engine. I could know, if I chose to take the time to study it properly, but the fact that I choose not to do this doesn’t make the mechanism of the combustion engine any less important, in the empirical sense. To believe otherwise would seem shockingly arrogant.

It occurs to me that this acquaintance is a really lucky—if scandalously incurious—fellow. All the science and technology he needs to improve his life can carry on with the business of improving it without recognition or appreciation from him. And, importantly, neither he nor anyone close to him is suffering from any absent or incomplete application of science. He doesn’t have to stop and wonder, “Was there a new discovery today that might help my child keep his vision?” And while I certainly don’t begrudge him the good health and privilege that has allowed him to cultivate this world-view, I’m mad on behalf of all the people who don’t have that luxury.

Usher syndrome is complicated. No one knows everything there is to know about it yet. Most of the people whose lives are affected by it don’t understand the biology and chemistry required to comprehend what is know about it, at a genetic, cellular, or molecular level. But I’d wager that very few of the people who fit into this category would tell those of us who are actively engaged in studying these very subjects that our efforts were rather meaningless; that we couldn’t really come to ‘know’ anything useful from our studies. As our discoveries about Usher syndrome lead to better diagnostics, and, eventually, to treatments, it will certainly not be required that every patient receiving these advanced standards of care have a Ph.D. level understanding of how they work. But I doubt very many of you would want to pursue such a treatment without some assurances that someone had done the work necessary to understand it. I think most of us realize that although there will always be some uncertainty in life, there is value in trying to increase the number of facts we can be reasonably sure of.

So, scientific outreach proclivities aside, I haven’t mustered a reply to that last, facepalm-worthy message. I honestly can’t think of an appropriate response. Should I re-re-re-reiterate my invitation and assure him that there is no philosophical prerequisite for touring the facility? Should I try to convince him that, although I can’t absolutely prove that the universe isn’t a computer simulation, I still think dedicating my life to understanding a little more about the mysteries of Usher syndrome is one of the best choices I could ever have made? Should I just let him off the hook from taking a tour he’s clearly ambivalent about? Should this particular acquaintance be forgot, and never brought to mind?

I haven’t decided what to do yet, but in the meantime I have poured every ounce of effort and clarity of thought into a soon-to-be-submitted manuscript that represents the scientific output of myself and others trying to shed a little more light on Usher syndrome. That means something to me. It is the farthest thing in the world from ‘tinny’.

A New Year is upon us. May it be filled with memorable, meaningful times, great discoveries, greater understanding, and, above all, hope.