Rare Disease Day

February 28th was Rare Disease Day, with events all over the U.S. and all over the world. As Rare Mom, I feel like it is my day!  A day to celebrate RARE!  A day of awareness-raising and wonderful people coming together to share their stories and to progress treatments and cures.  A day to celebrate milestones met and breakthroughs on the horizon.

On the other hand, it’s a sad reminder that so many others suffer as we do – across so many painful and life-threatening conditions. Of the 7,000 documented rare diseases (which taken together impact 1 in 10 people), less than 5% have a treatment available today.

Sienna, however, knows nothing about that part.  Sienna is 6, and has just a basic understanding of FOP.  She understands that she needs to be careful because her bumps don’t heal like other people’s, that she takes medicine that her friends do not, and that adults who get bumps like her usually rely on super cool power wheelchairs.

As the day went on, Sienna was acting like it was a national holiday, just for her, so I started to take a look at the day through her eyes.  Here are her highlights:

  • She got to leave school early and I took a half vacation day to spend it with her (time with me is still a treat – so also yay for me!)
  • She attended a Rare Disease Day event at Regeneron, a company local to us which also just happens to be on the cutting edge of FOP research, about to launch a phase 2 clinical trial of their anti-Activin A antibody.  She was treated like a celebrity.  Also they had balloons!
  • She got to see people she loves: Aris, Xiaobing, and team, who have dedicated decades of their lives to finding a treatment for FOP.  Decades!  These are some of the smartest and best people on the planet and we are so thankful they are working on FOP!
  • She learned a little more about the FOP mice modeled to be just like her, right down to the turned-in big toes (she thinks the existence of these mice is both hilarious and amazing).  She also got to see a mouse X-ray during the presentation.  She noted our excitement at an antibody-treated mouse’s stellar-looking, healthy mouse X-ray. (Amazing!  The non-treated mouse’s X-ray was full of heterotopic FOP bone.  I wanted to stand up and cheer but it seemed too professional an audience for that, so I whispered a cheer to Sienna.)

Sienna’s low point was that with all this excitement, she expected it to be a gift-giving occasion and we had totally failed to recognize this.  So at the end of the day, off we went to the toy store and remedied that. New high point! (another stuffed dog, my low point).

And yesterday, the day after Rare Disease Day, Sienna casually asked me which medicine would be ready first.  I had to pause, because she didn’t realize the greatness of her question.  She is certain that she will have medicine available, it is just a question of which one will come first.  And I am certain of that too.  I have to stop and pinch myself.

However, none of this was nearly as exciting to Sienna as the fact that her hamster had escaped early that morning. This happened while I was in the shower with shampoo all over my head, causing to me to run out, barely throwing on a towel, for the great hamster search.  The hamster was found but the story will live on forever, with the great hamster escape of February 28th, 2017 over-shadowing Rare Disease Day.

And that’s just how I think it should be – when Sienna’s medicine is available, I hope that FOP is just one tiny piece of the story of her life.  A childhood inconvenience that we’re able to “turn off” with the right medicine, and a final thread in the FOP story that so many researchers have been working on for so long. We are so grateful to ALL of them!

What did Rare Disease Day mean to you?  Did you see it through anyone’s eyes other than your own?


Xiaobing and Aris from Regeneron. Know how I got these smiles? “Say ‘escaped Hamster’!”



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