Reflections (continued)
Own the Equinox Day 25 | Journey Through Hearing and Vision Loss: Living with Usher Syndrome
By Martha Steele
Today, I volunteer for several blindness organizations, working to support rehabilitation services for the blind and visually impaired as well as medical research on treatments and cures for inherited retinal degenerative diseases (RDD), such as Usher syndrome. I am particularly indebted to Gordon Gund, the co-founder of the Foundation Fighting Blindness, who has spearheaded efforts to fund research on RDDs for the past 45 years. Where once there was virtually no research, there are many promising avenues today that have resulted in at least 20 human clinical trials with many more in the pipeline.
But of course, many people need help learning to best cope with their vision loss now and cannot wait for medical research to bear fruit in the coming years. Thus, supporting organizations that provide vocational or social rehabilitation services is crucial for the blind and visually impaired to thrive professionally and personally and to give them the tools and strength to be engaged in their communities. In addition to organizations that provide rehabilitation services, other groups provide crucial support and educational/advocacy avenues to raise awareness and connect affected individuals and families to a community of people going through similar experiences.
Serving on the Board of Directors of the Usher Syndrome Coalition is one way that I try to help to support the Usher syndrome community. Started in 2008 as a small group of committed families and researchers, the Coalition now includes members from across the U.S. and indeed the world. It is serving as a vital resource of information and connection, advocacy for medical research on this rare disease, and a place to support one another moving through life with Usher syndrome. The Coalition hosts an annual family conference at different locations around the country to bring families and researchers together to learn of the latest on medical research, share stories, and support one another. The USH Blue Book connects families around the world via email or other means. The Coalition also established and maintains an Usher Syndrome registry, the USH Trust, to create a robust database for researchers to draw from for clinical trials or other investigations. The USH Trust currently has over 1,000 people registered and expects to grow exponentially over the coming years as the Coalition broadens its visibility nationally and internationally.
Usher syndrome is the most common cause of combined blindness and deafness. In the U.S., approximately 50,000 people have Usher syndrome, which makes this inherited disorder an “orphan” or rare disease. Thus, like other rare diseases, there is less incentive to conduct research on possible treatments, which makes an organization like the Coalition so important for both helping the community to be more engaged and advocating for support and research. Worldwide, there are about 400,000 people living with Usher Syndrome. So far, 11 genes have been identified causing Usher syndrome, with about 15 subtypes of the disorder. As you have learned through the posts on this blog, people are born with varying degrees of hearing loss from moderate too profound and some are born with vestibular, or balance, issues as well. Usually, by teenage years, most Usher syndrome patients exhibit symptoms of retinitis pigmentosa (RP) and learn that they will go blind. By early adulthood, most are legally blind.
Different subtypes present different degrees and rates of clinical progression, and hence, there is a wide range of when a person loses his or her vision. It is probably safe to say that most affected by Usher worry more about the vision loss because at this time, there is no treatment or cure for lost vision. But there are hearing aids and cochlear implants to help with the hearing loss, as there were for me.
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Last night, Bob, Alvin, and I attended an event to celebrate the Usher Syndrome Awareness day, “Shine the Light on Usher Syndrome,” in downtown Boston sponsored by Kidz b Kidz. We listened to two young women who have Usher syndrome, one with cochlear implants and the other with hearing aids, and both with good central vision at this time. Listening to them describe their discovery of night blindness and narrow peripheral fields took me back some 40 years when I was about their age. I am hopeful that they, like me, will enjoy decent central vision for many more years, and that by then, there will be treatments available to either stop the progression of vision loss or restore lost vision. That is the urgent goal of all of us in the usher syndrome and retinal degenerative disease communities: to support and advocate for research while also providing support and services to cope with our losses on a daily basis. Creating engaged communities who grow stronger together will lead, I believe, to treatments. It is not a matter of if but when.
Tomorrow: Usher Syndrome Awareness Day: Thank You
September 16, 2016: 1 Day Until Usher Syndrome Awareness Day
Miles Walked Today: 7 miles, Arlington
Miles Walked to Date: 154 miles
Martha Steele is a member of the Board of Directors of the Usher Syndrome Coalition, as well as the Board of Directors of the Carroll Center for the Blind in Newton MA. She is also a National Trustee and Boston Chapter President of the Foundation Fighting Blindness
