April 2016: House Testimony of Carmen Marottolo of Connecticut

Written Testimony of Carmen Marottolo, Jr. of Durham, Connecticut

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

Subcommittee of the House Committee on Appropriations

April 15, 2016

My name is Carmen Marottolo, Jr. and I have 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 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 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.

In the United States, it is estimated that nearly 50,000 people have this rare genetic disorder. This devastating and life changing condition has a similar affect on all of us with Usher and on our families. But, we all have different stories to tell. 

This is my story. I was born on July 31, 1960 in New Haven, Connecticut. My mother is an Irish/German American and my father is an Italian American. I was raised with Catholic beliefs and in a loving home. My parents have five children: two girls and three boys. As difficult as it was being young parents, they discovered their first three children had hearing losses. Doctors used to say, it's very rare to have three children in the same family with a hearing loss. There was no mention of Usher syndrome at that time.

I am a firm believer that learning starts at home. My parents gave us opportunities and encouraged us to be productive members of society. This is what built my character for a good work ethic and to become independent with strong family values.

This is my basic timeline: at age four, my parents realized I had a hearing loss (as well as my two sisters) but did not know I had a serious vision problem. My hearing loss was corrected with amplification. I managed very well with hearing aids through my school years. It did not stop me from doing the things I loved, playing sports and being involved in community activities. 

At 6 feet and 200lbs, I enjoyed playing and watching basketball. At age 20, I noticed I was having some difficulties seeing people standing right next to me or on a basketball court. I couldn't see a ball that was passed to me. This is when I was first told about Usher syndrome. I had no peripheral vision but very good central vision. Well, that explained why I would stumble or bump into objects or people. As determined as I am, I continue to lead a "normal" life. I graduated from Southern CT State University with a B.S. degree in 1982.Two years later, I got married and had a son.

In 1986, I was hired by the United States Postal Service as a Mail handler. My life was simple and productive until 2013. My employer (U.S.P.S.) noticed a change in my vision. It became evident that I was struggling with my central vision. At age 53, after working 27 years, I am now in a life-changing situation, struggling with my vision loss and with an employer who says I'm not safe to perform my duties. 

I have received several letters of commendations for exceptional work performance. And now I'm being told I can't do my job. I was devastated! Angry? That's an understatement. I was determined to win my job back and to prove my ability, with help from the Bureau of Vocational Rehabilitation in Connecticut, an organization for people with visual impairment. 

I fought hard to reassure my employer that I can continue working and to be able to retire respectfully. After six months of an endless battle, I was allowed to continue working. I am presently on course to retire in August 2016. Some people will say it was a victory for me to get the 30 years of service, but I do not want to retire. I love my job and I wanted to continue being a proud member of the workforce. My vision has deteriorated so rapidly in the past couple of years, it's just not safe anymore. 

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 impairment. 

Now, at age 55, I have no vision in my right eye and very limited in my left eye. My left eye was my saving grace, until recently. I see haziness and dark shadows. I have NO face recognition. Last night, sitting at a local restaurant with friends and family, I could not see one face. That's not "normal". I just smiled and laughed but I felt all alone inside. Sometimes I feel like I'm the only one in the world with a vision loss. Depressing? Frustrating? Of course! As mentioned before, people with Usher syndrome all have similar challenges. Everyday I deal with a new challenge. Things most people take for granted; sweeping the garage, trying to find a tool, or just simply watching TV. It becomes mentally and sometimes physically exhausting. 

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. As for me, I will keep pushing forward and continue to fight. I always say:  I do not want sympathy, just a little understanding. 

Thank you for reading my story.

Best regards,

Carmen Marottolo, Jr.