March 2017: House Testimony of Stacey Breshears of Oklahoma

Written Testimony of Stacey Breshears of Claremore, Oklahoma

Labor, Health and Human Services, Education, and Related Agencies

Subcommittee of the House Committee on Appropriations

March 8, 2017

My name is Stacey Breshears and my son, Braden, has Usher syndrome, the most common genetic cause of combined deafness and blindness. I write on behalf of the Usher syndrome community to urge this committee to support the inclusion of report language prioritizing research into the treatment of Usher syndrome at the National Institutes of Health (NIH).

The Usher Syndrome Coalition 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 syndrome a higher priority, spending on Usher actually decreased by 11.6% from 2014 to 2015.

As you prepare the Fiscal Year 2018 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 is concerned that its previous requests for updates on the prioritization of Usher syndrome research at NEI and NIDCD have not resulted in the information being sought. 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 2018 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.

In the United States, it is estimated that at least 20,000 people have this rare genetic disorder. This devastating and life changing condition has a similar effect on all of us with Usher and on our families. But, we all have different stories to tell. 

This is Braden’s story:

After a difficult delivery, Braden repeatedly failed his newborn hearing screening in the hospital.  The nurses suggested he just wasn’t responding because of all the trauma.  At two months old and again at four months old, the test was repeated. We finally had to accept that Braden was, in fact, deaf. After receiving bilateral cochlear implants, we thought we had a handle on things and continued to move forward.  Many times over, comments had been made to my husband and me: “Thankfully, it’s his ears and not his eyes.” Yeah, right.  A few years later, the vision trouble began to be apparent. After referral of a couple of doctors and a number of tests, the diagnosis came for Usher syndrome.  So, now our deaf child is going to lose his vision?  This news, of course, caused us to evaluate everything in our life to make sure we are able to make the best choices we can for our son.  Usher syndrome has opened our eyes to many things, while darkness is setting in for our son.  Our self-evaluation and drawing even closer as a family and to God has been necessary to be able to cope with this diagnosis.

He is 12 years old now.  He has a decreased window of peripheral vision, night-blindness, and color deficiency. His vision cannot be corrected to 20/20.  He stumbles, trips, and always has bruises.  But his laid back personality, problem-solving skills, and great attitude keep him going.  He is an inspiration to those who know him and he never complains.  I pray all the time for advances in research and technology so that he doesn’t have to be left in the dark one day.

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 $145 billion annually in direct and indirect costs for people with eye disorders and vision loss (June 2014 Prevent Blindness report). That doesn’t even include the costs associated with hearing impairment.

Until 2015, 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 also like to see a better ratio of intramural and extramural investment in Usher syndrome research. The NIH website budget page states that “more than 80% of the NIH's funding is awarded through…competitive grants” and that “about 10% of the NIH's budget supports projects conducted by…scientists in its own laboratories.” According to the RCDC NIH Categorical Spending list, 53.3% of overall investment on Usher syndrome research was intramural. Further, the investment does not seem to target the most pressing issue of vision loss as only $5,991,000 (37.6% of the portfolio) targeted vision loss.

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. I want the outcome to be different for Braden.  My husband and I will continue to help him every way we can.  By sharing Braden’s story, we are helping to raise awareness for the need of further research.

Thank you for reading Braden’s story.