Why I'm Advocating on Capitol Hill for Rare Disease Day


Prior to the fall of 2014, I had never heard the term “rare disease.” I had never considered there were diseases that in some cases, affected so few people, they didn’t have a name, or that a diagnosis for a disease could be “undiagnosed,” because there is little to no research being done. In July of 2015 I was diagnosed with Pompe disease, which according to pompe.com affects between 5,000 and 10,000 people around the world. Today, while out in D.C. advocating for rare diseases, I met a mother whose child has a rare disease that has only been identified in 40 people worldwide.

I still remember the day my doctor called to tell me that a test confirmed I had Pompe disease. I felt sad, angry, scared and hopeless, but I also felt relieved, happy, and optimistic. After my doctor told me about Pompe, he said, “The good news is there is treatment.” Suddenly, I also had some hope.

I am fortunate to have treatment for my disease. According to The National Organization for Rare Disorders (NORD), there are 7,000 rare diseases with less than 500 FDA approved treatments. Only 5% of rare disorders have a treatment. Even with an available treatment, there is a chance that it will not work for all Pompe patients, and there is a chance that even though treatment works for me now, it may not work for me a year from now, or 10 years from now. There is a chance that I and other Pompe patients could develop antibodies to the medication which would make the treatment less effective. Research and development of new drugs and therapies are of vital importance to the rare disease community, and advocacy is an important step in bringing attention to these issues.  

February 28th is Rare Disease Day around the world; this year the theme is “patient involvement and research.” There are many events and activities that you can participate in to support and bring attention to issues related to rare disease.

This week, I am attending Rare Disease Week on Capitol Hill, along with about 300 rare disease patient advocates and community groups. Today I participated in a legislative conference to prepare me and other advocates to meet with and discuss relevant issues with our senators and representatives. I have attended Pompe disease conferences in the U.S. and Australia, and the Pompe community has several close-knit, supportive Facebook groups. However, attending this conference today gave me a new sense of power and education. My parents have always encouraged me to be engaged and aware of issues that I feel passionate about, and sitting with these people who are giving me the tools to help me effectively advocate for myself is an incredible feeling. Having the opportunity to meet people from NORD and other advocacy groups, and being able to thank them in person for the work they do is extremely gratifying. Hearing other patients and family members share their stories is humbling as well.

Tomorrow, I will meet with six representatives from Washington State. I will have the opportunity to share my story. I will have the opportunity to educate someone in our government about my rare disease and the trials and tribulations that come along with it. I will also be able to share the success I have had because I was diagnosed at the National Institute of Health (NIH) and have access to treatment. I am here today because of the incredible services at NIH, the benefits of the Orphan Drug Act, and patients being willing to advocate for themselves and others. All of this is necessary to continue furthering research in the field of rare diseases.

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