April 2016: Senate Testimony of Anne Croy of Missouri

Written Testimony of Anne Croy of St. Louis, Missouri

Prepared for the Subcommittee on Labor, Health and Human Services,

Education, and Related Agencies

United States Senate Committee on Appropriations

April 15, 2016

Mother of a 29 year old daughter with Usher syndrome Type 2 and a member of the Usher Syndrome Coalition.

My name is Anne Croy and my daughter’s name is Maliea Croy. Maliea lives in New York City and works as an assistant art gallery director. Her stepfather and I reside in St. Louis, Missouri. As a very concerned parent and a member of the Usher Syndrome Coalition, I write on behalf of the Usher syndrome community to respectfully request this committee support the inclusion of report language prioritizing research into treatment of Usher syndrome at the National Institutes of Health (NIH).The Usher syndrome community across the country is aware of and appreciates your support since our report language first appeared in the 2014 omnibus spending bill. But as I am sure you agree, Usher syndrome needs to become a higher priority at NIH until we have viable human treatments. Despite three years of appropriations language urging NIH to make Usher syndromea higher priority, spending on Usher actually decreased by 11.6% from 2014 to 2015.

As you prepare the Fiscal Year 2017 Labor, Health and Human Services, Education bill, we respectfully request that you include the following report language with the objective of better defining the plan and measurements for the delivery of vision loss treatments for those with Usher syndrome:

  Usher syndrome - The Committee continues to urge the NIH to prioritize Usher syndrome research at NEI and NIDCD. The Committee requests an update in       the  fiscal year 2017 budget request on steps NIH has taken to date and future plans to accelerate treatment options and improve patient outcomes for those       with  Usher syndrome. The update should include a description of the criteria in use by NIH to evaluate Usher syndrome related grant submissions to ensure       the  prioritization of those that accelerate human treatment options. The update should also include a timeline and deliverables that will be used to evaluate the   progress made towards viable treatments for those with Usher syndrome.

Usher syndrome is the most common genetic cause of combined deafness and blindness. In the United States, it is estimated that nearly 50,000 people have this rare genetic disorder. Maliea is one of those people. She was born with a moderate to severe hearing loss and has worn digital hearing aids in both ears since the age of 1 1/2 years. It is imperative that she be constantly fitted with improved aids to maintain her level of hearing and this is a cost not covered by insurance. At the age of 20 years and while attending college, Maliea began struggling with vision issues. Multiple tests revealed an Usher syndrome diagnosis. It was devastating to her and our family, but after much research, counseling and renewed family solidarity, we determined that our only choice was to begin planning and move forward as a strong unit. Maliea has lost a donut shape of vision in each eye. Her peripheral vision is dim and cloudy at best. She travels by subway to work in NYC and is beginning to use a cane. She is determined, but knows her limitations. She knows a career in the art field may require a degree of visual accuracy and clarity. Because of this, she is making plans to change careers next fall and has been accepted to Columbia University to earn a Master’s degree in Social Work. She wants to be a counselor. We are very proud of her on so many levels! We know that the progression of this disease can cut those dreams short and this is why we plead for your help. Not just for our daughter, but for every individual with Usher syndrome, that their dreams at living a productive and rewarding life may not be squelched.

People with Usher syndrome share the same range of intelligence and work ethic as any American. Yet they suffer from an 82% unemployment rate. People with Usher syndrome are born with the same emotional strength as any other. Yet they have a suicide rate that is 2 ½ times greater than the general population. People with Usher syndrome not only have the capacity to contribute to America’s future, they thirst for it. They want to be active members of society. Yet our country spends an estimated $139 billion annually in direct and indirect costs for people with eye disorders and vision loss. That doesn’t even include the costs associated with hearing. Excellent, timely and promising research on Usher syndrome is happening worldwide. As a country, we need to make the work of these dedicated scientists and doctors both plausible and meaningful in their progression. It is the future of many at stake. Last year, my husband and I started a small company where a portion of the proceeds will be dedicated yearly to the Usher Syndrome Coalition. There are many independent groups at work to support those with the disease and help drive research. Now we need the support of the National Institutes of Health to fine-tune our directives. Usher genes are complex, long protein cells, which require significant investment in research if we are ever to find a cure or treatment. We can’t do it alone. Until very recently, there was no way of knowing how much money NIH invested in Usher syndrome research. Through the efforts of the Usher Syndrome Coalition, this rare disease has been added as a new category in the NIH Categorical Spending list, the Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC). Through the RCDC system, we now have visibility into the total dollars spent on Usher syndrome, as well as the specific grants that were funded. More important to us than increasing the dollars invested in Usher syndrome research is ensuring those dollars are invested in the most impactful manner. We would like to see a strategic plan put forth by the National Institutes of Health developed with both internal and external expertise containing clear measurements of progress. NIH investment should target those research areas that will most quickly bring about viable human treatments for the vision loss phenotype in Usher syndrome. There are technologies and techniques available today to manage the hearing loss and vestibular issues faced by those with Usher syndrome. These are not perfect and more investment is needed, but the priority should be to provide treatments that allow people with Usher syndrome to manage the vision loss as well as they currently manage the hearing and vestibular losses. 

The dollars invested in Usher syndrome research are precious to all of us. We want to make sure they are spent as wisely as possible. The researchers are there, waiting to discover what now is just a dream. All we are asking for is a chance; a chance at the sight most of us take for granted.

Thank you very much,

Anne Croy