Deaf-Blind Get Voice on Capitol Hill

This article is on the front page of the Foundation Fighting Blindness web site. Usher's Syndrome is studied here in south Louisiana--especially the southwest in the heart of "Cajun Country" because of its prevalence there. The population used to be isolated which caused the syndrome to thrive. I believe there was another such community in Italy--I forget where. I usually post articles at my nessage board but since I follow a couple of blogs on the subject...

Deaf-Blind get Voice on Capitol Hill
Usher syndrome research highlighted at congressional briefing

Imagine trying to live with the challenges of combined deafness and blindness, and at the same time, being unseen and unheard by society. That’s the unfortunate irony for the 45,000 Americans with Usher syndrome, a devastating inherited disease that robs people of their vision and their hearing.

The Foundation Fighting Blindness (FFB) and Association for Eye and Vision Research co-hosted a briefing on Capitol Hill on February 5 to educate legislators about the urgent need for increased Usher syndrome awareness, as well as research funding at the National Institutes of Health — funding that can provide much-needed childhood genetic screening and development of treatments.

The briefing featured William Kimberling, Ph.D., one of the world’s leading Usher syndrome leading authorities who conducts research at Boys Town National Research Hospital in Omaha, Nebraska, and the University of Iowa in Iowa City. He explained that the combined impact of hearing and vision loss is many times greater than deafness or blindness alone. “Deafness and blindness together is not like 1+1 = 2. It’s like 1+1 = 10,” he said. “Usher syndrome is a vicious disease.”

Moira Shea, a director on the board of FFB, gave staffers a compelling firsthand account of what it was like to be affected with Usher syndrome. She told attendees that challenges in communication from hearing and vision loss often lead to isolation and loneliness. Diagnosed at the age of 15, she said, “It was the worst news my parents ever got. There was no hope. The doctor just told my parents to send me to a school to learn Braille.”

While Shea has persevered with a successful Washington-based career and a master’s degree from Harvard, progressive vision loss has taken its toll on her. She said, “The vision loss process is like a series of cliffs. You go through life, and there’s a big drop in your vision, you adjust to it, move forward, and then there’s another cliff,” she said. “I am in a constant state of grieving.”

But thanks to the Foundation Fighting Blindness and the National Institutes of Health, there is hope for Shea and others who are challenged by Usher syndrome. The organizations are providing critical research funding to investigators like Dr. Kimberling who are driven to find answers to the relentless condition.

One immediate goal for Dr. Kimberling is to provide inexpensive and accessible genetic screening for young children who are born deaf or with severe hearing loss to determine which of them is affected by Usher syndrome. He estimates that as many as 15 percent of these hearing impaired children will eventually lose their vision. However, if children with Usher syndrome can be identified early on — through genetic and vision testing — then measures can be taken right away to preserve their vision as much as possible.

Not only does vision preservation provide these individuals with a better quality of life, it is likely to give them the opportunity down the road to benefit from an emerging curative treatment such as gene therapy, which Dr. Kimberling calls “the gold standard” for treating Usher syndrome. Additionally, he noted, by keeping individuals independent and productive, we can save much of the $2 billion that Usher syndrome costs our economy in health care and other supportive services.

The progress of vision loss could potentially be slowed by the administration of neuroprotective treatments, which are in clinical studies right now. Also, nutritional supplementation with fish oil and vitamin A appear to slow vision loss in some individuals. Even wearing sunglasses in bright outdoor light might give a person two or three years of additional useful vision.

Usher syndrome is caused by a genetic variation (a mutation) in the cells of both the retina and the inner ear. Genes lead to the production of proteins, and if a defective gene leads to a single missing or incorrect protein, it can mean serious trouble. Dr. Kimberling explained that Usher proteins in the retina work together like a crane to deliver important chemicals from one end of a cell to the other. If one protein isn’t doing its job, it’s like losing the motor or the hook or the cable, and ultimately, then the crane doesn’t work, and the health of the retina is severely affected.
Dr. Kimberling added that much of what is known about Usher syndrome is relatively new information. “Up until about the year 2000, we had no idea that such a mechanism [the crane-like structure] existed.”

Thus far, variations in nine genes have been linked to Usher syndrome, and researchers know there are more to be identified.

The three NIH institutes currently funding research for the disease are: the National Eye Institute, the National Institute for Deafness and Other Communications Disorders, and the National Institute for Child Health and Human Development. Much of the research underway not only impacts people with Usher syndrome, it is giving us important information about how all people see and hear.

Throughout his presentation, Dr. Kimberling kept emphasizing the fact that Usher syndrome research is a greatly under-funded and the condition is greatly overlooked. Few people have heard of the disease, yet it is more common than amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) or Huntington’s disease. Remarkably, over the last 36 years, only one piece of congressional legislation mentioned deaf-blindness.

Despite the challenges that lie ahead for Moira Shea, she remains positive and hopeful. “I think about the work that the Foundation is doing and it keeps me going. I know that today, any 15-year-old kid with Usher syndrome isn’t getting the news my parents got. They are being told there is hope. Most likely, there will be a treatment in their lifetime.”

Source Link: http://www.blindness.org/index.php?option=com_content&view=article&id=1462:deaf-blind-get-voice-on-capital-hill&catid=67:usher-syndrome&Itemid=123