Number 54 • January 2015

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The Importance of an Usher Syndrome Community1

Usher syndrome is the most common cause of deafblindness. It is an emotionally devastating and socially isolating disease. The vision loss is progressive so families deal with an ongoing sense of grief. As vision declines in adults with Usher Syndrome, fewer of them are able to work in competitive jobs, causing a reported an 82% unemployment rate among those individuals. Such an example leads to a loss of identity and self-esteem leading to increased feelings of worthlessness and higher rates of depression and suicide.

But while the disease may convey a sense of worthlessness, people with Usher syndrome could not be more valuable to society. People with Usher syndrome are critical to finding treatments for Usher syndrome. Clinical trials on treatments for Usher syndrome would be suspended, abandoned, or simply not begun without the involvement of people with Usher syndrome. People with Usher syndrome are, quite literally, the cure!

Usher Families are Key

Families with Usher syndrome are THE experts on the disease. We experience Usher, day and night, month after month, in every possible life scenario and condition. We are the holders of the genetic cause of the disease. We raise the awareness and the money that provides the funding for research. Without the participation of Usher families, researchers would know nothing about the disease.

Yet we are in constant danger of losing that connection between researchers and families because the scientific process is onerous. Researchers spend much of their time in the lab, studying proteins, observing mice, writing and reviewing papers. It is trial and error. It takes a long time to get from the lab to something worth testing in the clinic. So it is easy for researchers to become estranged from the very families they are working to help.

The nature of Usher syndrome doesn’t encourage engagement from families either. Families are devastated by the diagnosis. Transportation is more difficult for individuals; it is hard to navigate crowds. Social interaction in dark or loud places is next to impossible. Families with Usher are prone to withdrawal from the rest of society.

The Usher Syndrome Coalition2 seeks to build an Usher syndrome community that brings together the passion and expertise of families and prominent researchers from around the world in an urgent movement to find a cure. We serve as a vital resource for people affected by Usher syndrome, their families and researchers. Our mission is to raise awareness and accelerate research for this most common cause of deafblindness. An Usher syndrome community is our most powerful tool.

International Symposium at Harvard Medical School

In July 2014 we saw the power of the Usher community at the International Symposium on Usher Syndrome held at Harvard Medical School. The Symposium, July 10 and 11, brought together the leading researchers in the world and Usher syndrome families from around the globe for a two day scientific conference and a one day family conference, July 12. It was a huge success. Families called it “life-changing”. Researchers said “the presence of families was excellent and achieved just the right balance and perspective.”

One of the main outputs from the symposium was a roadmap to help guide investment in Usher syndrome research. As part of the roadmap discussion the Usher Coalition asked the researchers in attendance what was the greatest barrier to treatment development. Their answer was unanimous and it was not what you might expect. They didn’t say that they lacked funding or that there were insurmountable scientific hurdles. No, when asked the greatest barrier to treatment development, the leading Usher syndrome researchers in the world said “We are not in touch with enough families with Usher syndrome.” The reasoning is simple.

So where does the Usher Syndrome Coalition come into this?

The science is advancing. We are reaching the point where potential treatments can move from the lab to clinical trials. But clinical trials cannot be conducted without enough candidates. Candidates mean people with Usher syndrome and a huge pool of people is needed to find enough candidates for even a single trial. Just because you have Usher doesn’t mean you are a candidate for a particular clinical trial. You have to have the right genetic cause, be of the right age, have the right amount of vision, and have the ability and the desire to participate. It takes hundreds of potential candidates to find just a few that are appropriate.

So one of the main goals of the Usher Syndrome Coalition is to identify everyone in the world with Usher syndrome. We maintain an international voluntary, Health Insurance Portability and Accountability Act (HIPAA)3 compliant, online registry4 that contains more than 700 families from 40 countries. The registry is available in several languages. Joining the registry doesn’t mean a person is volunteering for clinical trials; it ensures that we can inform them about any trials. Researchers have no direct access to names in the registry. Information about trials is shared by the Coalition on behalf of the researchers. It is then up to the families to contact researchers if they are interested in a particular trial.

Keep in mind that everything about the disease, from the way the diagnosis is delivered to the psychosocial impact, drives families in to seclusion. So the Usher Syndrome Coalition also provides information and support to individuals and families affected by Usher syndrome. We run an annual Family Conference, the next of which will be held in New Orleans on July 11, 2015. We have organized an International Family Network that connects families from over 20 different countries. We run monthly conference calls featuring talks from the world’s leading experts live captioned and open to anyone that wants to attend. The notes from the call are read by almost 1500 people world-wide. We have a 5-star Facebook5 page with more than 1,000 likes, a Twitter6 account with hundreds of followers, and a blog7 called ‘the most thoughtful exploration of Usher syndrome on the internet.’

The Usher Syndrome Coalition is there for families because families are critical to finding treatments. The Usher Syndrome Coalition is there for researchers because researchers need a means to connect with families. But most importantly the Usher Syndrome Coalition aims to provide a better quality of life for people with Usher syndrome by building a community that encourages ownership of the scientific process and provides them with the hope they deserve.

Mark Dunning

Chair Usher Syndrome Coalition

Parent of a child with Usher syndrome


1 Article based on presentation at DbI Usher Network Pre-Conference, Belfast, November 03-04, 2014
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