Rare Disease Week in DC


Discussing the OPEN ACT with Congressman Bilirakis

I am so excited to share with everyone my trip to DC for Rare Disease Week. It was a wonderful opportunity to meet with other rare advocates as well as healthcare industry leaders and political figures to discuss important legislation. Personally, it was a life changing experience where I finally felt that everything I have gone through in the last 313 days can have a positive outcome. While my situation is unique and I have a rare disease, my decisions can be used to trigger the changes necessary to allow all rare patients a chance at a better life.

New "rare" friends!

New “rare” friends. Incredible people!

The first night I attended a cocktail reception and met some wonderful advocates. I also finally met Patty from the Rare Disease United Foundation in person! Her organization is so amazing, it was such an honor to spend time with her and discuss issues in the rare community. I consider her my rare “mom”. I also met Jenn, Mel and John who are parents of children with Duchenne Muscular Dystrophy. It was interesting hearing about their issues with the FDA and granting drug approvals.¬†Currently, they are pushing the FDA to approve a drug to treat their sons. Their stories are powerful, it makes you realize how much reform is needed and how vital it is to establish a quick and effective review of potential treatments via the FDA.


The Florida team from around the state.

Wednesday, February 25th was our official day on the hill. I had the pleasure of uniting with an awesome group of people representing a wide variety of rare diseases. Laura Milford has Hereditary Angioedema, Kimberly Elfersy is a GIST Sarcoma survivor and Alison Frase who was there on behalf of her son Joshua who bravely battled Myotubular Myopathy.


We had the opportunity to meet with staff members from multiple Congressional offices. Congresswoman Lois Frankel was nice enough to snap a photo with us after meeting with her staff to discuss the OPEN ACT. I found that the 21st Century Cures Act had bi-partisan support, a promising step in the right direction for the rare disease community.

The most amazing part of the trip, meeting Congressman Bilirakis

The most amazing part of the trip, meeting Congressman Bilirakis!

All day I was looking forward to meeting with Congressman Bilirakis who is co-sponsoring the OPEN ACT. When I learned about the bill, I was overjoyed that someone was finally going to push to end off-label use. After all, Rituxan was “off-label” for ITP and it worked well for me. I was pumped to share my story with him and how his bill can allow other ITP patients to have the same opportunities that I had. We had a spirited conversation about the OPEN ACT and how it can change medicine, especially for patients who can’t receive care at a research hospital. We also discussed how data gathered from repurposing FDA-approved drugs can help researchers work on new treatments and potential cures. It is a win-win!

In the coming months I will be encouraging other members of Congress to support HR 971. I am living proof that repurposing drugs for rare diseases can save lives. It is time for the rare community, healthcare providers and the government to come together and change medicine.

3 thoughts on “Rare Disease Week in DC

  1. I found your story so interesting. I don’t have a rare disease, but I was diagnosed with Emphysema 20 years ago while living in Michigan. I was 55 at the time and was forced into early retirement. I stayed in MI for another 10 years and moved to California at the urging of my daughters. I now live in the desert near Palm Springs. I started getting better almost immediately. But six months ago I had a flare up and have been having trouble breathing. I was put back on prednisone (60 milligrams a day) and am now weaning off. I can relate to your experience with steroids. My face looks like a basketball and my mood is terrible. I am finally down to 10 mgs but am still feeling the side effects. My pulmo doc says prednisone is saving my life, but if I don’t get off the prednisone will kill me. While I don’t have a rare disease, COPD will probably kill me. But I have made it to seventy-five and never believed I would live this long. I can only hope the best for you. You are a brave woman.

  2. I found your story so interesting. You are fighting the good fight. I don’t have a rare disease. I was diagnosed with Emphysema 20 years ago while living in Michigan and dealt with steroids for the next ten years. I was diagnosed at the age of 55 and was forced into early retirement. I moved to California ten years ago at the urging of my daughters. I now live in the desert near Palm Springs and started getting better almost immediately. Nearly six months ago I started a flareup and I am now short of breath and have a bad cough and am now on Prednisone again. Started at sixty milligrams daily and am now weaning off slowly. I can relate to you story about steroids. My face looks like a basketball again and my moods are not good. I weaned off the prednisone five milligrams a week and am now down to 10 and will see the pulmonologist next week. I am sure I will get better, but it is taking longer the older I get. I am seventy-five now and am surprised to have lived this long. You have done so well. You are a brave woman. Best of luck in the future.

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