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Wednesday, April 29, 2009

May 12th Researcher Conference Update

By Mark Dunning

A dozen of the leading Usher syndrome researchers will be meeting in Boston on May 12th. It’s a small group, but that’s a good thing because the goal is to come out with some recommendations to present to the larger community. In particular, we will be focusing on identifying Usher families and engaging them in the research process.

One of the biggest problems we face in research is finding candidates for a particular study. Studies often require not only a particular type of Usher syndrome, but a particular age group, amount of usable vision, rate of deterioration, and natural history. Usher syndrome is a rare disease to begin with so such culling can quickly shrink the available pool of candidates to a size that sinks the study.

To combat that, we need to not only identify every single person with Usher but we also need to engage them in the process so that we don’t lose them. Simply identifying a worthy candidate to participate in a study does not good if that candidate is no longer reachable.

We’ll spend a lot of time in this blog talking about the ways that we can 1) keep families engaged and/or 2) stop driving them away. The conference on May 12th will be in part about just those things. The goals of the conference will be:

Identification
1) A standard protocol for identifying kids with Usher syndrome through the newborn hearing screen.
2) A standard protocol for identifying suspected adolescents and/or adults.
3) A standard approach for molecularly identifying currently diagnosed Usher patients that have not been confirmed genetically.

Engagement
1) The creation of a voluntary registry for patients where we capture demographic information and some basic natural history information supplied by the patients. (There will be more on this in later posts.)
2) Standards for testing that could be shared between researchers. So if patient A is in Study B and Study C, patient A only has to have an ERG for Study B which will then be acceptable for Study C. Right now patient A usually has to submit to two ERGs which often drives away the patient from one or both studies.

These recommendations will be debated among the larger group in the monthly conference calls with the hope that they will be ratified and committed to by all member organizations by the fall.

Thursday, April 16, 2009

Better than Money

By Mark Dunning

What can I do to help my child? That’s the first thing parents ask when their child is diagnosed with Usher syndrome. Given that there are no accepted treatments for Usher syndrome at the moment, parents are often encouraged, with the best of intentions, to support research.

The problem is that most parents don’t know how to support research. When they are told they can help their child by supporting research, what they hear is ‘We need money. Write a check.’ For some families, that’s not an issue. They have the money and are eager to provide financial support. But that’s not true of all families and it can actually be detrimental to research efforts if they perceive that the only way they can help is to ‘write a check’.

That’s because ‘write a check’ has different meanings to different people. I’m asked to ‘write a check’ and I’m thinking a hundred dollars. Here, go buy your team some pizza. It’s on me. That doesn’t exactly fund a multicenter study, however. I had one researcher tell me he was trying to get several ‘small’ donors together to fund a project. His idea of small was $50,000. That made me a microscopic donor which went well with my microscopic self esteem.

And that's the problem. I already felt like a failure. I’d failed my child genetically. I’d failed my child by not recognizing her situation sooner. I’d failed my child all those times that I got mad at her for not seeing something that was right there. And now I was failing her financially as well. I should have studied harder or chosen a different career. I should have invested more wisely or played the lottery more often. It was hard to find anything I had done right. And now here I was asked something simple. Just write a check like the thousands I’d written before to pay my bills. But I couldn’t, at least not one that mattered.

Worse still was the impression, real or imagined, that by not writing a check I was no longer allowed to be privy to any of the research being done. Writing a check seemed to get you tours of the facility and dinner with the researchers. Failure to do so seemed to mean you got a phone call from a graduate assistant in a few years. I felt as if not only had I failed my daughter, but I’d gotten her locked out of the party as well.

This is very dangerous because it drives families away. Any researcher will tell you that there are two things Usher syndrome research needs the most. The first, as we’ve said, is money. The second is research subjects. This is a low incidence disorder. There are quite simply not enough appropriate research subjects to fill the studies we want to run. So in trying to solve the first problem (no money) we exacerbate the second (no subjects) by sending a bunch of families home with the notion that if you can’t write a check there is nothing they can do.

That’s why it’s so important to find ways to engage families in the research that does not involve a financial commitment. Yes, we need money, but we also need participation. We need everyone to contribute natural history information. Not just that of the patient, but that of the parents and grandparents and the siblings. Yes, we need more funds, but that doesn’t mean it has to come in the form of a personal check. We need press coverage to raise our profile. We need to lobby our representatives for funding. We need volunteers for fundraisers and to update web sites and write newsletters.

Success in this endeavor will require a grass roots effort by the whole Usher syndrome community. Everything we do should be geared to encouraging participation. Researchers don’t like asking for money anyway and those families that can make an impact financially will usually do so whether they are asked or not. So you don’t have to ‘write a check’ to help. Just stay involved.

Tuesday, April 14, 2009

Feeling Small and Alone? Here's Why You Shouldn't.

By Mark Dunning

One of the hopes of the Usher Syndrome Coalition is to create a community of families, researchers, care-givers, and fund raisers. Usher syndrome is a low incidence disorder. It's estimated that somewhere between 30,000 and 50,000 people in the United States have it. Compared to the overall population, that's a tiny number.

That feels especially true when you are first diagnosed. There is rarely a family down the street with the same diagnosis. There often isn't a family in the same county. Heck, you can feel like you're the only one in your state. Doctors usually are not well versed in the diagnosis beyond knowing that there is no cure (more on that in later posts). We feel very alone and very small.

But that's not true. We are neither small nor insignificant. We are just disorganized and dispersed, and in this age of technology, being dispersed is simply a nuisance.

Let me put this in perspective. The town I grew up in had about 30,000 people in it. The town had excellent schools, from grade school to high school, with very good sports teams and bands and chess teams and math teams and any extra curricular activity you could imagine. The kids that graduated from there went to everything from ivy league schools and trade schools. They grew up to be doctors and politicians and accountants and business leaders.

Our town had police stations and fire stations. There were churches and synagogues. There were pharmacies and grocery stores and pizza places and cinemas. Kids played on playgrounds and ball fields. We had parades and festivals, doctors and dentists, traffic lights and libraries.

In short, this town of 30,000 people was self sufficient and wanted for nothing. This Usher syndrome community should be the same. 30,000 people can do anything when empowered and organized.

Even that 30,000 number is incorrect. That's 30,000 people that have Usher syndrome. That's not 30,000 people in the community. I don't have Usher syndrome, yet here I am. My wife doesn't have it. Neither do my parents or her mom. But they are all engaged in the Usher syndrome community to some degree. So are Bella's doctors and the many, many researchers that are working on Usher syndrome, none of whom have Usher syndrome.

I would venture to guess that for every Usher patient there are, conservatively, ten people that want to help the cause to some degree. That turns our 30,000 people in to 300,000 people or roughly the population of Buffalo or Newark.

And that doesn't count international populations. There are more people internationally with Usher syndrome than there are in the United States. How many is not clear, but there are vibrant Usher communities in Sweden, Finland, England, and elsewhere. But lets say conservatively that there are the same number of people internationally with Usher syndrome as there are in the United States and that those people also have ten people willing to help. That's 600,000 people. That's the size of Glasgow and Rotterdam and Charlotte.

And it's bigger than Boston (pop 574,000), home of Harvard University, MIT, Massachusetts General, Children's Hospital, Genzyme, dozens of biotech firms, and the first Frontiers Family Conference on Usher Syndrome. Imagine if the populations of Harvard and MIT and Children's Hospital and Mass Eye and Ear turned all their collective brains and ingenuity on curing Usher syndrome and Usher syndrome alone. Do you have any doubt it would happen and happen quickly?

Well, the Usher syndrome community has the same firepower. We just need to organize it.

So don't feel small and alone. Get involved. Help us build this community. We're bigger than you think.

Friday, April 10, 2009

Adventures in Blogging

By Mark Dunning

It feels terribly presumptious to believe that anyone would care what I was up to, but I know that I have found great solace in knowing that someone, anyone, was working on something, anything, that might move us toward a cure. So I'll post notes on what I hear and what I know about Usher syndrome research and hopefully that brings a little light in to lives of those coping with the diagnosis. We could all use a little hope.

Please contact me with any questions or corrections. I hold no illusions that I am an expert on any of the subjects that may be discussed in this blog, but I do have some very smart friends and I am in contact with the best researchers in the world. So if I don't have the right answer, I can probably find someone that does.

For parents of a child with Usher syndrome or families of people with Usher syndrome out there, please do not hesitate to contact me. We are developing a family network for Usher syndrome families and the Coalition can always use the help of any volunteers. Ultimately it will be the families that cure this, so we need your help.