When Sienna was diagnosed, we were warned that the race to cure FOP would be a marathon, not a sprint.  I wish I knew which mile marker we were on, but scientific progress is not always linear, and that last mile might end up being straight uphill anyways.  But thankfully, we know progress is being made.  I truly believe that an effective treatment to “turn off” the rogue gene in FOP will be available within a few years. 

We are lucky.  We have the Penn lab, we have the IFOPA (our non-profit), and we have an active network of global FOP patients/parents who share stories, advice and support.  These are the people who have already run the first legs of our marathon.

As we have gotten up to speed on FOP, we have also learned that there is a world of rare diseases beyond FOP.  A disease is considered rare if it affects less than 200,000 Americans. (for reference, FOP affects 1 in 2 million)  According to the National Institute of Health there are over 7,000 rare diseases affecting more than 30 million Americans.  Many of them don’t yet have a dedicated medical team, a non-profit, or a support network.  They aren’t even at the starting line yet.  I can’t imagine getting a rare diagnosis and then having to go it alone.  

Thankfully, there are organizations that support the rare disease community as a whole, such as NORD (the National Organization for Rare Disorders), who advocated for the Orphan Drug Act.  Their mission is to assure that research on rare diseases is widespread and productive, leading to medicines, biologics, devices and diagnostics that will help patients with rare diseases. They want safe and effective products to get to market as quickly as possible.  

And there are companies like Genzyme.  Genzyme is a biotech company committed to discovering and delivering transformative therapies for patients with rare and special unmet medical needs, providing hope where there was none before.   Genzyme’s website currently lists research projects on Cystic Fibrosis, Lupus, Niemann Pick, Gaucher and Parkinson’s disease as well as neuroimmunological disorders such as multiple sclerosis.  Pretty good roster!

This year, runners from Genzyme are teaming up with patients of rare diseases and running the Boston marathon in their honor. We were excited to learn that Sienna has just been chosen to be one of the patient partners!   We haven’t yet met our runner, but are very excited to get to know him and to get involved in the broader rare disease community leading up to the race on April 21st.  We will post updates along the way as our runner trains and as we train our cheering voices and our poster-making skills.  And who knows, Sienna might even give our runner some advice…