Usher Syndrome: A Debilitating Disease Impacts Hearing and Vision

Last year, Bill Barkeley, a 45-year-old Michigan native, accomplished a truly awe-inspiring feat he climbed Mount Kilimanjaro, an inactive volcano in northeastern Tanzania.

Hundreds of people scale Africas highest peak every year, so you may wonder what was so exceptional about Bills climb? He is one of approximately 20,000 people in the United States and 100,000 worldwide, who suffer from Usher Syndrome, a rare degenerative disorder characterized by hearing impairment and gradual vision loss.

Bills hearing loss is bilateral, progressive and severe. He is also legally blind. Considering the extent of his disabilities, Bills accomplishment is admirable.

An invasive and disabling syndrome

According to National Institute on Deafness and Other Communication Disorders, as well as National Institutes of Health, Usher Syndrome is the most common condition that degenerates both hearing and vision. Many people with Usher syndrome also have severe balance problems.



Usher Syndrome degenerates 2 of our 5 key senses

There are three types of Usher syndrome: type 1, type 2, and type 3. Type 1 children are profoundly deaf at birth and have severe balance problems. Many of them get little or no benefit from hearing aids.

Children with type 2 Usher syndrome are born with moderate to severe hearing loss and normal balance. Most of these children can benefit from hearing aids and communicate orally.

Type 3 children have normal hearing at birth, but both hearing and sight get progressively worse over time. They may also develop balance problems as they grow.

In the United States, types 1 and 2 are the most prevalent, accounting for approximately 90-95 percent of all cases.

Living with Ushers

Usher syndrome is inherited or passed from parents to their children through genes. Approximately 36 percent of all children who are deaf or hard-of-hearing have this disability.

One of these kids is nine-year-old Jacob Desormeaux, son of renowned jockey Kent Desormeaux. In a recent TV interview, Jacobs parents recounted their and their sons struggles with this disorder, which, they believe, started even before the boy was born. We have an ultrasound picture of Jacob actually holding onto his ears with both of his hands, his mom, Sonia Desormeaux, told ABC News. When he was born, for probably eight or nine months of his life, we would have to literally pry his hands away from his ears and pull them down. And they would go right back up.

After consulting many doctors, Jacob was diagnosed with Usher syndrome. Now he has cochlear implants in both his ears; without them, he would be profoundly deaf. In the past few years, his parents noticed another disturbing change when Jacob began losing his eyesight.

It started with night blindness, where he just showed up one evening and started screaming for me to help him into the house from the car, Sonia recalls.

No quick fix

Bills conquest of Mount Kilimanjaro was made possible by the state-of-the-art equipment provided to him by Phonak, the Swiss-based manufacturer of technologically advanced hearing systems through the companys Hear the World Foundation
However, the vast majority of Usher syndrome sufferers do not have access to such high-tech devices. And, sadly, no cure exists at this time, for either Usher syndrome or any of its symptoms. The best assistive treatment currently available includes hearing aids, cochlear implants or other communication methods such as sign language and auditory training, Braille instruction or low-vision services, among them.

New developments on the horizon

If there is currently no cure for Usher syndrome, it isnt for the lack of trying. On the genetics front, researchers are working towards identifying the genes that cause this disability, so that early diagnosis can be made. Early identification of children with the syndrome is also important as it ensures timely treatment and counseling.

And just recently, Strategic Diagnostics Inc. (SDI), a leading provider of biotechnology-based detection solutions for a broad range of life science, food, water, agricultural and environmental applications, announced that it is expanding its relationship with the University of Oregon, Eugene and the Louisiana State University Health Science Center, New Orleans by beginning to supply antibodies for the study of Usher Syndrome.

One of the program participants, Dr. Monte Westerfield of University of Oregon, said progress has been slow in the past because of a lack of effective tools to understand the dynamics of the proteins associated with the disease. "These tools will enable us to visualize the complex interaction of proteins in our disease models, he notes. Our initial tests of SDI’s antibodies have already produced surprising results that will help in unraveling the pathology behind this disease."

That may be just one of many strides forward in finding and expanding treatment options and hope for a cure – for thousands of Usher syndrome sufferers around the world.

Recently the National Eye Institute and the National Institute on Deafness and Other Communication Disorders launched a joint online resource devoted to Usher Syndrome: www.ushersyndrome.nih.gov.