House and Senate Testimony of Lanya McKittrick of Washington

Written Testimony of Lanya McKittrick of Washington

Prepared for the Labor, Health and Human Services, Education and Related Agencies

Subcommittee of the House and Senate Committees on Appropriations

April 3, 2015

Parent of a 15 and 7 year old sons with Usher syndrome, Parent Advocate representing the Usher Syndrome Coalition and individuals with Usher syndrome, Founder of the Hear See Hope Foundation.

My name is Lanya McKittrick and I’m from the state of Washington.  I am here on behalf of the Usher Syndrome Coalition and the Hear See Hope Foundation to respectfully ask this committee to encourage the National Institutes of Health (NIH) to prioritize research that will expand treatment options for those who experience hearing, balance and vision problems due to Usher syndrome. As you prepare the Fiscal Year 2016 Labor, Health and Human Services, Education bill, we respectfully request that you include the following report language:

The Committee commends NIH for including Usher syndrome on the Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC) list in order to track the annual support level of this rare disease. The Committee urges NIH to prioritize Usher syndrome research at the National Institute on Deafness and Other Communication Disorders (NIDCD) and the National Eye Institute (NEI) and develop a multidisciplinary research strategy among multiple NIH institutes, including the National Center for Advancing Translational Sciences (NCATS), the National Human Genome Research Institute (NHGRI), and the National Institute of Mental Health (NIMH). Because Usher syndrome is a rare genetic condition, the Committee urges NCATS to support fundamental basic science research on Usher syndrome and NHGRI to support research on the underlying genetic causes of Usher syndrome. Since children and adults with Usher syndrome are at risk for the development of mental and behavioral disorders, the Committee urges NIMH to support research to elucidate genomic risk factors that underlie mental disorders. The Committee urges additional focus from NIDCD, given Usher syndrome's involvement with vestibular dysfunction. The Committee requests an update in the fiscal year 2017 CJ on the planned and on-going activities related to this syndrome, including the manner in which various ICs coordinate on common goals and objectives.

Usher syndrome is the most common cause of combined deafness and blindness. In the United States, it is estimated that nearly 50,000 people have this rare genetic disorder.  Even more people have retinitis pigmentosa (RP), which causes the retinal degeneration associated with Usher syndrome.  

Conner was diagnosed with a profound hearing loss just after birth. He received his first cochlear implant when he was 1 year of age.   He spent years of intense speech therapy to be mainstreamed into a regular Kindergarten class.  At the age of 6, just after he started being mainstreamed, he began to be afraid of the dark. We took him to a routine eye exam only to have our worst nightmare come true.  Our son would lose his vision before he becomes a young adult.  

Soon after Conner’s diagnosis we found out that our newborn son, Dalton, also has Usher syndrome.  We were devastated that two of our four boys would not only be deaf but lose their vision as well. Conner and Dalton try to remain positive, but they cannot do many of the things their friends and family can. Conner has dreams to be an oceanographer. I hope those dreams can come true. I worry every day about his ability to succeed at a job if he is legally blind. The unemployment rates for those with Usher syndrome is very high and that is scary.  Conner’s friends are driving but he’ll never drive.  Conner is excluded at many social events because he misses many of the gestures his friends make and has a hard time seeing details around him.

In 2004, my husband and I started the Hear See Hope Foundation to raise money for Usher syndrome research. We’ve funded over 1 million in research so far.  But we can’t find a cure without more funding.  For the first time since my boys were diagnosed, I’ve felt comfortable telling them there is hope for treatment.  But, we need more funding for research that will lead to clinical trials.  For our family, we know that Conner has lost a lot of eyesight but our goal is to not have to see our younger son go through the difficult times that we see Conner go through. Without more funding, both my boys will be legally blind within 10 years and that is heartbreaking.

There is brilliant research already being done including the first ever human clinical gene therapy trial at the Casey Eye Institute in Oregon.  Other great research is being done by many other researchers and institutions as well.

Until very recently, there was no way of knowing how much money the 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. Usher syndrome research still needs a lot more investment, but this is a rare diseases with similar incident rates average around $50 million annually.  These investments have resulted in significant discoveries for these diseases, and I believe we can see the same results or better for Usher syndrome.  We dream for the opportunity for our kids to see their children and to fulfill all their dreams.

Thank you on behalf of all those with Usher syndrome, their families and our family.  

Please let me know if you have any questions.