If you or someone you love is diagnosed with a rare disease, you might find yourself on a very quick learning curve about the disease (or about the lack of information on the disease, or trying to even get to an accurate diagnosis!). The number one priority for me after my sister was diagnosed with a rare, life-threatening disease was to find treatments and any way we could fight back: clinically, therapeutically, emotionally, etc. Our family looked for ways to stay hopeful and live our best lives under challenging circumstances.
My sister was diagnosed in 1998 with pulmonary hypertension; fast forward to nearly 22 years later:
1) She is still alive against all odds, and
2) I find myself working for the National Organization for Rare Disorders (NORD) and standing on a stage at Washington, DC’s International Spy Museum, hosting a rare disease trivia contest with 150 parents, kids, and other family members of individuals living with all kinds of rare diseases.
After my sister’s diagnosis found some semblance of stability, I learned a lot more about rare diseases and how important it is for the more than 25 million Americans living with rare diseases to come together to advocate collectively for research and cures.
I also came to find that the last day of February is Rare Disease Day, and hundreds of thousands of people around the world celebrate the day through events and social media campaigns that are informative, educational and…fun!
So there I stood, at NORD’s first ever Rare Disease Day: Mission 2020 event for the rare community. My job at NORD is to work with patient advocates and leaders of rare nonprofits – to provide resources, training, connections and support to help their organizations meet their missions. Being involved in the rare disease community for over 20 years and also as a self-confessed shameless ham behind a podium or a microphone, I signed myself up to emcee the event.
Mission 2020 was an opportunity for families to connect, have fun, play games and enjoy a day at a high-tech and unique museum. We had a photo booth where kids (and adults) posed cheerfully with our zebra mascot (we haven’t named her yet!).
NORD chose the International Spy Museum because we feel like rare disease patients and their families often have to act like detectives while dealing with mysterious symptoms and collect “clues” to eventually get diagnosed with their rare disease. NORD also coordinated a panel on diagnosing rare diseases with a patient and caregiver sharing their experiences of misdiagnosis, as well as a leader at the National Institutes of Health sharing his perspective on genetic testing.
A number of patient advocates and NORD member organization leaders were in attendance as well, including Donna Spencer of the Huntington’s Disease Youth Organization, who shared her thoughts on the event with NORD recently:
“I took my 19 year old daughter to the NORD Spy Museum event and I saw something change in her during the event: after hearing the panelists speak about their diagnosis experience she turned to me and told me that she knew she should get involved with patients and the community to make a difference. She knew firsthand about people living with Huntington’s disease but didn’t realize how much this disease had in common with all 7,000 rare diseases. Hearing that there is a larger community of millions of Americans living rare diseases and that their diagnosis stories have a lot in common with misdiagnosis and delays, she felt like she could truly make a huge impact in her life as a rare disease volunteer!”
As for me, advocating for people like my sister who are living with a rare disease is a mission that I will wholeheartedly continue to accept. When we come together as a community at patient and family events, workshops and conferences, and online, it is crystal clear that NORD’s motto is as relevant as ever: Alone we are rare. Together we are strong.
