DC Rare Disease Week

Did you know that Rare Disease has its own special day each year? Love that for us! 💃

Rare Disease Day is observed on the last day of February, landing on the 29th in leap years to make it the ✨ rarest✨ day of the year. The day is organized by Rare Diseases Europe (Eurodis) via RareDiseaseDay.org, a homebase for 106+ participating countries and 600+ events.

Having our own “day” gives an opportunity for rare disease patients, advocates, and caregivers like me to organize, raise awareness and generate change. With over 300 million people globally living with a rare disease, 95% of all US patients having no FDA approved treatments, and a long diagnosis timeframe… we need it!

There were several events happening in DC surrounding Rare Disease Day, and this was my first year attending. We officially joined the rare disease community when Olive was diagnosed last June. I was excited for the opportunity to learn and advocate for our family, and felt fortunate to have access to some great events in my backyard!

I took off three days of work (grateful for unlimited PTO!) to attend these :

• Tuesday – Rare Disease Day @ NIH
• Wednesday – Rare Disease Legislative Conference (RDLA) by the EveryLife Foundation for Rare Disease
• Thursday – Capitol Hill Day, also by the EveryLife Foundation

There really is SO much to cover but in this blog I’ll give a rundown of Rare Disease Day @ NIH.

Rare Disease Day at NIH is organized by NCATS and the NIH Clinical Center, and is held on their campus in Bethesda. NIH is less than a mile from my house and the event is free — so it was a no brainer for me!

This a conference style event with booths, a poster display area, and an auditorium with a schedule of speakers. This was my first event since officially launching RareOlive in January, so I was able to connect with NORD about joining and got a chance to meet other parent-led organizations like us. It was great to be able to see other organizations like mine, most a few years further along and to chat with their organizers. The work these parents do is truly amazing!

These were SO many great presentations and moments, but I’ll highlight two that really stood out to me.

Here’s my first:

Nasha Fitter, who is the CEO & co-founder of FoxG1 and cofounder of Ciitizen, gave an awesome talk that I really enjoyed. Nasha is a rare disease parent and entrepreneur, and said when facing her child’s diagnosis, she knew she had to get creative and think about how she could apply her unique skillset towards pushing forward rare disease treatments. After learning about the importance and challenges of creating natural history studies, she applied her background in entrepreneurship and technology to get after solving a huge problem. The result was creating a platform that essentially automates natural history studies by extracting data and insights from patient medical records.

This is game changing for several reasons. Firstly, natural history studies take years, cost a ton of $$ to organize and require families (whose children who often have complex medical needs) to travel long distances to a set of doctors that track them over time. By creating a platform where patients can consent to obtaining their full medical records + layering technology on top — Ciitizen has been able to generate longitudinal data and insights that have been presented to the FDA. The platform allows patient advocacy groups to partner with them so that they can centralize these insights (with patient consent). Ultimately, this is going to cut the cost and speed up drug development for rare diseases. It’s fantastic work and I was super inspired! I often think about how I can apply my skills as a product manager to this space — there are SO many problems to solve!

Here’s my second highlight, which made me full on ugly cry:

Towards the end of the day, programming was stopped so that one patient advocacy group could share some incredible news. Ronald Bartek, who I saw present later in the week at RDLA grabbed the mic. Ronald is co-founder and President of the Friedreichs Ataxia Research Alliance in honor of his sibling. After 30+ years working towards an FDA approved treatment for Friedreichs Ataxia — it had been done. He tearfully grabbed the microphone to share that he had just received word that the FDA had approved their treatment. This means that for the first time, there was a drug that could be given to patients, not just in clinical trials, but by any physician treating these patients.

I couldn’t help but cry with him during this moment — both in celebration of this incredible feat, and in honor and recognition of the decades of work spent to make this happen. It was an encouraging reminder but also a somber one — that we may not get a treatment to FDA approval for Lunapark in Olive’s childhood, or maybe in her lifetime. It will take days, months and years of challenging work to reach that moment. But just as I imagine Ron felt — in that moment it will have all been worth it.

More to come…