AEVR/FFB Congressional Briefing Highlights Urgency for Deaf-Blind Research

William Kimberling, Ph.D., speaks to attendees

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 hearing.

The Alliance for Eye and Vision Research (AEVR) and the Foundation Fighting Blindness (FFB) co-hosted a February 5 Capitol Hill briefing to make legislators aware of Usher syndrome awareness and to support increased funding for its research at the National Institutes of Health (NIH)-funding that can provide much-needed childhood genetic screening and development treatments. In conjunction with NIH, FFB, a private funding foundation, is supporting research to find answers to this relentless condition.

The briefing featured William Kimberling, Ph.D., one of the world’s leading Usher syndrome authorities who conducts research at Boys Town National Research Hospital in Omaha, Nebraska, and at 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, adding that, “Usher Syndrome is a vicious disease.” His goal, simply stated, is to add at least 20 more years of vision for individuals who are often blind by age 20, just when they are starting to live independent lives.

Moira Shea, a director on the board of FFB, provided attendees a compelling firsthand account of what it was like to be affected with Usher syndrome. She noted 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. “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, adding that “I am in a constant state of grieving.”

One immediate goal of Dr. Kimberling’s research 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. The progress of vision loss could potentially be slowed by the administration of neuro-protective 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.

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 he estimates that Usher syndrome costs our economy annually in health care and other supportive services.

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 (NEI), the National Institute on Deafness and Other Communications Disorders (NIDCD), and the National Institute of Child Health and Human Development (NICHD). Much of the research underway not only impacts people with Usher syndrome, it is providing important information about how all people see and hear.

Throughout his presentation, Dr. Kimberling kept emphasizing the fact that Usher syndrome research is greatly underfunded 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 has mentioned deaf-blindness.” Despite the challenges that lie ahead for Moira Shea, she remains positive and hopeful. “I think about the work that FFB 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.”

Moira Shea, a member of the FFB board who offered a firsthand account of living with Ushers syndrome, with Stephen Rose, Ph.D., FFB’s Chief Research Officer	Dr. Kimberling with Baldwin Wong from the National Institute on Deafness and Other Communications Disorders (NIDCD) and Andreé Reuss from the NIH Director’s office, detailed to NIDCD
FFB Chief Executive Officer William Schmidt (left) and AEVR Executive Director James Jorkasky (right) with Schylr Greggs from the office of Cong. Pete Sessions (R-TX)	William Schmidt with Mike Ryan from the office of Cong. Steve Israel (D-NY). Mr. Ryan’s sister was recently diagnosed with Usher syndrome.

In addition to speaking at the briefing, Dr. Kimberling made a series of eight visits to the offices of the Nebraska and Iowa delegation.

Senator Ben Nelson (D-NE) offers Dr. Kimberling a bandage to cushion a blister he developed during his busy schedule of Hill visits. Senator Nelson and Senator Susan Collins (R-ME) developed the Senate amendment to the economic stimulus bill to reduce spending and increase tax cuts which retained the $10 billion funding level for the NIH.	Dr. Kimberling with Erik Fatemi, who works for Senator Tom Harkin (D-IA), Chair of the Senate Labor, Health and Human Services, and Education (LHHS) Appropriations Subcommittee
Dr. Kimberling with Cong. Dave Loebsack (D-IA), a long-time medical research supporter	Dr. Kimberling with Senator Mike Johanns (R-NE), who was just elected in November 2008