March 2014: House Testimony by Mark Dunning

Written Testimony of Mark Dunning of Massachusetts

Labor, Health and Human Services, Education and Related Agencies

Subcommittee of the House Committee on Appropriations

March 28, 2014

Parent of a 15 year old daughter with Usher Syndrome, Founder and Chairman of the Coalition for Usher Syndrome Research

My name is Mark Dunning from the state of Massachusetts.  As Chairman of the Coalition for Usher Syndrome Research, I am here on behalf of the Usher syndrome community to respectfully request this committee encourage NIH to prioritize research that will eventually expand treatment options for individuals suffering from the severe hearing and vision loss related to Usher syndrome.  We also respectfully request that the committee direct NIH to move expeditiously to direct additional resources to respond to any deficiencies in the funding level or the manner in which various ICs coordinate on common goals and objectives related to Usher syndrome.

Usher syndrome is the leading cause of deaf-blindness. In the United States, it is estimated that about 45,000 people have this rare genetic disorder. My fifteen year old daughter Bella is one of them.  She has Usher syndrome type 1b.  She was born profoundly deaf and now she is losing her vision to retinitis pigmentosa.  She also suffers from the severe balance issues common in her type of Usher syndrome.

Imagine yourself as a fifteen year old girl.  Adulthood stands before you.  You dream of getting your driver’s license, of the freedom it provides, of the limits it removes.  We live in a small town.  There is no public transportation.  A car is the only way to get to work, to visit friends, to shop for food.  But Bella’s vision is too poor for driving.  How will she survive?

Or imagine yourself as a sophomore in high school.  You dream of college, of the freedom it provides, of the limitless career opportunities.  Only hard work and desire stand between you and your dreams.  Unless, like Bella, you have Usher syndrome.  Then you also face the barriers of access to information.  You cannot hear the professor or see the board as well as your peers.  You work many times harder to get the same grades.  And some trades are closed to you before you start.  Can you be an architect if you are losing your vision?  Can you be a salesperson if you have no hearing?  Can you dare to dream of an unfettered future?  Is the American dream available to you if you have Usher syndrome?          

My daughter is an asset to this country.  She is kind and empathetic.  She puts all others before herself.  She is hard working and fearless.  She has been honored with a John F. Kennedy award for leadership and a StayClassy award for philanthropy.  She is the type of fifteen year old we should be grooming as a future leader in the country.          

But Bella has Usher syndrome.  She was born profoundly deaf and she is going blind.  She will fight it every step of the way, but without increased federal funding, she will eventually lose.  And when Bella loses, we all lose.  Kids like Bella are our future.  Unless they have Usher syndrome.  Then they are not, and we are all the worse for it.         

People with Usher syndrome share the same range of intelligence and work ethic as any other slice of America.  Yet they suffer from an 82% unemployment rate.  People with Usher syndrome are born with the same emotional strength as any other American.  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.

In my role as the Chairman of the Coalition for Usher Syndrome Research, I have spoken with or met hundreds of people who are determined, focused, and working everyday to help themselves, their loved one, or in some cases complete strangers, figure out how to treat this syndrome.  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.

Through the Coalition, we have brought the Usher community and researchers together by:

Establishing a registry of individuals with Usher syndrome which is available for research or clinical trials at no cost.  Our registry currently has families from each of the 50 states and 29 countries.
Sponsoring an International Symposium on Usher Syndrome at the Harvard Medical School in July 2014 to develop a roadmap for future research projects to bring us closer to viable clinical trials.
Sponsoring annual family conferences, webinars and monthly conferences that provide information and support to all of those living with Usher.

With this in place, we have begun bringing brilliant researchers together who are working on developing treatments every day.  Researchers like those in Oregon and Pennsylvania who are working on gene therapy treatments, one of which began clinical trials last year.  Researchers in Louisiana, who have been able to rescue the hearing in mice with Usher syndrome using a drug therapy that holds promise for rescuing vision as well.  Researchers in Iowa, California, Nebraska, Massachusetts, Florida, Texas, and many other states, who are collaborating with each other and with families through the Coalition to advance all kinds of Usher syndrome research.

But still this is not enough.  We cannot help any of the tens of thousands who have Usher, or countless others that will be born in the future with this devastating genetic disorder without Federal support.  There are dozens of different mutations that cause Usher syndrome, and the pace of research is slowed dramatically by the lack of researchers and funding.  The infrastructure is there to find treatments, but the significant financial support is not.  We are asking you to supply this last critical resource to help us find a cure.

When you review the report on categorical spending by the NIH, Usher syndrome is not even listed.  Rare diseases with similar incident rates average around $50 million annually.  These investments have resulted in significant discoveries for these diseases and there is reason to believe that we can see these same results or better for Usher syndrome.  We do not ask that the committee throw dollars at the problem.  Only that they ensure the appropriate funding is available.  The researchers are there, waiting to discover what now is just a dream.  All we are asking for is a chance; a chance for deaf children and adults who are going blind, a chance to see.  With your help, my daughter and others like her can once again dare to dream      

I will leave you with the words of America’s most famous deaf-blind person, Helen Keller.  “Alone we can do so little; together we can do so much.”  Only together can we find a way to end deaf-blindness.  I thank you on behalf of all those with Usher syndrome, their families, and most importantly to me, my daughter Bella.