Name: Stephanie Fischer
Organizations you represent: I am a member of the Foundation Alliance as an Advisory Board member of the Rare & Undiagnosed Network which was founded by Gina Szajnuk. I am also a member of the Pennsylvania Rare Disease Advisory Council and Secretary of the Board of the Narcolepsy Network.
What led you to the rare disease community: I didn’t know I had a rare disease until it caused a stroke when I was 29 and working on Capitol Hill. At the time, I was focused on recovering and preventing another stroke. I met Nicole Boice a few years later, and started to get involved in the rare disease community through Global Genes, EveryLife Foundation for Rare Diseases and National Organization for Rare Disorders. Many of my first interactions were on Twitter where I met advocates including Melissa Hogan and Rose Sharon Nissley who are still working hard to serve their rare disease communities.
What do you think are the areas that are lacking in the community (specific to your org or in general) / What are some of the pain points The difficulty in getting a timely and accurate diagnosis is a key issue across rare disease communities. Progress in getting diseases added to newborn screening panels state by state is slow, and there are still barriers to genetic testing (including for adults who might have access at no cost if they were younger through programs such as the Behind the Seizure initiative). Diagnosing diseases that are not genetic can also be challenging. Individuals living with narcolepsy go without a diagnosis an average of seven years after the onset of symptoms. Without an accurate diagnosis, patients can’t benefit from treatments (if there are any) or participate in clinical trials. And a diagnosis is key in connecting with other patients or caregivers/care partners who know the disease to find support, share experiences, ask for guidance, etc.
Another issue close to my heart is ensuring that rare disease patients of any age are considered and included within the rare community. With advances in science, more children with rare diseases can live longer. Don’t we want them to have the support they need even after they turn 18? Adults living with rare diseases should be represented on the Boards of organizations whose mission includes serving them, which surprisingly is not always the case. The perspectives and priorities of parents and patients may differ, and both are critically important. I’ve been glad to see programming specific to adults living with a rare disease at the last few RARE Patient Advocacy Summits and look forward to seeing what is in store for this year.
What are your areas of expertise? I worked for my U.S. Representative in a variety of roles including four years on Capitol Hill as his Communications Director before working for biopharmaceutical industry organizations on health policy communications then leading patient engagement and communication at the EveryLife Foundation. I enjoy helping rare disease advocates understand why public policy is important and the role they can play in educating state and federal elected officials on what is needed to overcome the many challenges of living with a rare disease.
Another area of expertise is utilizing social media to raise awareness of rare diseases and advocate for public policy that would benefit the rare disease community (or against potentially harmful public policy). I was glad to contribute to the Global Genes toolkit on How to Promote Your Rare Disease Story Through Social Media and have spoken on this topic at a variety of events. I’m excited to have a new example of a successful social media effort in #RareDiseaseTruth which Dr. Neena Nizar of the Jansen’s Foundation started on Twitter to encourage dialogue on what it is really like to live with a rare disease, care for a loved one with a rare disease and try to drive progress towards treatment.