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Friday, July 16, 2010

All You Need to Know About the Usher Syndrome and Related Disorders Conference, Part II: Psychosocial Aspects

by Mark Dunning

Yikes. I’m way behind on posts. I will respond to Jennifer’s last post soon. First, a quick update on the Usher Syndrome Family Conference held last weekend in Seattle Washington. In a word: Awesome. Some of the leading experts in the world spoke and they all did so at a level that was possible to follow even for the recently diagnosed. They were great. It was also terrific to see so many Usher adults in attendance. We quite literally emptied Seattle of interpreters for the day and it was mesmerizing to watch so many communicating using sign language and tactile sign. Bella has pretty much dropped sign at this point, so I had to knock off a lot of rust but I held my own (mostly I signed ‘Wait.  I don't understand.  Where’s an interpreter?’)

In the evening we held a cookout at a waterfront park. The weather could not have cooperated more. It was 90 degrees and dry. We had a nicely shaded reserved section with a dozen picnic tables and a large percentage of the conference participants came. Families got to mingle with each other and with many of the speakers, who also came for burgers and hot dogs. There were a dozen kids around the age of my kids there. Miraculously they all seemed to get along well. So well, in fact, that I had to drag my kids out of there.

All in all it was a terrific day and the organizers, particular Hear See Hope, Seattle Children’s Hospital, The Decibels Foundation, and the Coalition for Usher Syndrome Research, are to be commended. I’m already getting inquiries about next year. We’ll be working out those details soon so watch this space.

OK, now back to one of many unfinished topics. I have already given a summary of the first session of the Usher Syndrome and Related Disorders Conference held in Spain back in May. Here is a summary of the second session. Keep in mind this is still just the afternoon of day one, so more will follow (assuming I ever get my act together).

State of the art clinical and genetic diagnosis and early intervention in Usher syndrome
Claes Moller
Orebro University Hospital, Orebro, Sweden

Thanks to newborn hearing screening and vestibular testing, the folks in Sweden are getting pretty good at diagnosing Usher 1. However, Usher 2 and 3 patients are still very difficult to identify at a young age without genetic testing because of the absence of early balance issues. Now that it’s been several weeks, I can’t remember if Sweden is doing regular genetic testing of kids that fail the newborn hearing screen or not, but I do know that Dr. Moller feels it is the best way to find Usher 2 and 3 kids at a young age.

Why you care

There may not be a person in the world that knows Usher syndrome better than Dr. Moller and even he is finding it hard to diagnose Usher 2 and 3 at a young age without a genetic test. Early diagnosis remains critical because there is so much that can be done, from hearing aids and cochlear implants to sunglasses and dietary changes, all of which are more beneficial when done early. If you have a child with hearing loss and don’t know the cause, early genetic testing is a good idea.

Psychosocial impact of Usher syndrome: Adults and the family
Ilene Miner
Licensed Social Worker, Venice, California

More than 100 people with Usher were interviewed over many years and then an additional 10 in Denmark and 12 in the United States. The study found a number of similarities between countries but in all cases Usher syndrome has a significant psychosocial impact throughout life. In particular both groups, Danes and Americans, suffered consequences from having Usher that included job loss, depression, and problems with family relationships. There was a difference in that Danes had significantly more access to services than people with Usher in America and that had an impact on their ability to have contact with others and socialize.

Why you care

Well, if you want to have a social life or you want your child to have a social life, you care. The study showed that more services meant more opportunities for social interaction. It seems pretty clear that we in the United States need to fight for more services for people with Usher.

Usher syndrome and psychosocial health
Berth Danermark
Orebro University Hospital, Orebro, Sweden

This was a study of 96 persons with Usher type II and 16 persons with Usher type III in Sweden. The participants filled in a questionnaire through a national public health survey, so the results could be compared to those from the general population. The goal was to study psychosocial factors that promote health. It was not good news. People with Usher were more likely to have depression, anxiety, sleeping disorders, low self esteem, and thoughts of suicide than the general Swedish population.

Why you care

This is the stuff that scares people. It’s not the blindness or the deafness or the balance problems. It’s the social isolation and the psychological problems that go with it. I talk a lot about treatments for the physical ailments but we need to treat the social and emotional impact of Usher as well. Expect more discussion about this in future posts.

How do people with Usher syndrome live their lives?
Ole Mortensen and Bettina Moller
Information Center for Acquired Deafblindness, Denmark

Over a five year period, “The Nordic Project” interviewed 20 people with Usher in Scandinavian countries. The interviews were conducted once a year and focused on how the participants lived day to day, not just on their problems. The hope is that some knowledge can be gained that can be helpful in developing social supports for people with Usher.

Why you care

Seems sort of silly to have to discuss this, huh? I mean, many readers of this blog have Usher or a family member with Usher and live a life every day. But for researchers who don’t live the life, this is an important topic. They need to know about how Usher actually impacts the daily lives of their patients and research subjects if they want to know if treatments are improving those lives. And, quite frankly, for families this matters too. Just see my post on my first deafblind party to get an idea of how foreign living with Usher can be even for someone who, like me, lives with Usher every day.

So that gets us through most of day one of the symposium. From here on, it gets pretty technical which means two things: 1) I’ll be soliciting Jennifer’s help and 2) my descriptions will be much shorter.

Wednesday, July 7, 2010

If You’re Not Part of the Solution…

by Jennifer Phillips, Ph.D.

Editor’s note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable. are, as they say, part of the problem (science geek variant: “you’re part of the precipitate."). The funny thing about this debate is that Mark and I are not arguing from very polarized positions. We have a common goal (improving communication between patients, physicians and scientists), we recognize many of the same problems (communication between these groups can be challenging), and we more or less agree on the broad strokes of the solutions (everyone needs to work harder at transparency and full disclosure). Where we differ is in the details of this last category, mostly because while I agree with the basic ambition of facilitating communication on global efforts to find a cure for Usher syndrome, there are some undeniable hindrances to fully achieving that goal. I dealt with some of these issues in my first debate post, so I won’t rehash them except to say that it will be difficult to completely solve this particular problem without addressing several larger, overarching challenges, such as the inherently unpredictable pace of biomedical research, the competitive nature of research funding, and society-level problems with science communication. That said, even a foregone conclusion of limited success is no reason not to forge ahead and do what we can to improve the situation. “Difficult” does not equal “Impossible”.

So, if we agree that change needs to happen, and that we have the power to influence this happening, let’s start talking about HOW it should happen. I’ll begin by addressing improved Doctor-Patient communication, which, to me, can be broken down into quantitative and qualitative components.

I have heard only a few stories recounting the Usher diagnosis experience, so my sample size is small. However, all that I have heard, including all that Mark and our readers have shared on this blog, have been infuriating and frustrating, and if they are (and I have no reason to doubt that they are) indeed representative of the average Doctor-Patient encounter, then this is an area that screams out for improvement.

The quantitative problems that have been described center on a paucity of information or resources, while the qualitative shortcomings have to do with the tone or demeanor of the doctor-patient encounters. Families are broadly and cursorily informed of an incurable condition and left, it seems, to work out the details on their own. In my opinion, any visit to a health care provider that ends with the patient’s family frantically ‘Google-ing’ for answers is an abject failure. We can do better.

We want to improve on both the volume and the worth of information that Usher patients get from their health care providers, from the first diagnosis onward. Furthermore, we want to improve the way in which it is delivered. Current, comprehensive, evidence-based information about Usher itself and locally available resources for coping with it, presented compassionately and optimistically, would certainly go a long way toward delivering the message of hope we are seeking.

Working within the parameters of the current American health care system, a top-down approach to solving this problem would include:

1. Compiling information and resources on Usher syndrome that would encompass both national and regional information. This would probably need to happen through the NEI or the FFB or some large-ish, well-connected entity at the national level, and would be modified with input from regional specialists and providers. Such information should be in the form of both printed and web-based material, and should be updated regularly.

2. Training a broader segment of physicians to become familiar with these resources and to standardize the dissemination of this information to families with an Usher diagnosis. Continuing Medical Education is a requirement for everyone holding a medical license. Ophthalmologists, Otologists, and all other providers who see Usher patients, especially if such patients are outside of their primary specialty, need to have regular access to current information on Usher research, specialists in their area, and so forth.

3. Prompt delivery of this information to patients and families. It seems to me that it would be a huge assist for the doctor if he or she had a concrete and comprehensive repository of information to offer and refer families to at any point in the process, but particularly at the initial diagnosis. This would take at least some of the pressure off of the provider to deliver all relevant information off the cuff, and off of the families to hear and process this information during a highly emotional encounter. Instead of navigating unguided through the vast, confusing, and often inaccurate morass that is the Internet, families would be given virtual destinations, in addition to helpful local or regional contacts.

Overall, current, comprehensive, evidence-based information about Usher itself and locally available resources for coping with it, presented compassionately and optimistically, would certainly go a long way toward delivering the message of hope we are seeking. Such an endeavor would require input from a broad array of professionals and family advocates, and it would likely be a fairly complex and protracted process…but it is inherently possible.

The above proposal is deliberately presented in very broad strokes. I have specific ideas for each component, but I hope that leaving the details out for now will allow you, readers, to formulate some specifics of your own. Think about it. Discuss the pros and cons of such an endeavor with the families and professionals you are in contact with. Figure out what you can do to contribute to creating this resource, if you think it’s a worthwhile cause. And if you don’t, think of a better alternative. In short, be a part of the solution. I look forward to hearing your ideas.