Today marks 4 years since Sienna was diagnosed with FOP (Fibrodysplasia Ossificans Progessiva, a condition impacting 1 in 2 million where muscles and other soft tissues turn to bone, progressively restricting movement until older patients are essentially locked in place.)
In the rare disease world, diagnosis dates have an impact on our lives, whether we want them to or not. In past years I’ve thought about the anniversary date in advance and how to (or not to) acknowledge it. This year it snuck up on me as I just realized what day it is tonight, and I think that is actually a positive sign. We were busy having a great weekend with Sienna.
As much as I wish FOP never entered our lives – that it was never a real condition – when I think about where we are today and where research is headed, I can picture the day when FOP is no longer a concern. And I am thankful for many of the experiences it has given us.
1) An introduction to the inspiring world of medical research.
There is so much exciting research happening for FOP. Amazing people doing incredible things for a disease so rare it would not be surprising to have no one working on it. Amazing researchers at Penn, Harvard, Oxford, Vanderbilt. And pharma companies! Clementia, Regeneron, Blueprint, Alexion, AstraZeneca and La Jolla Pharmaceuticals. See here for the full research update. Apologies if I left anyone out!
There is a clinical trial that has fielded and several more on the horizon. And we are here, watching this all happen live. And not just watching! We have met these people, eaten meals with them, collaborated with them, been to conferences with them, had long conversations with them, cheered them on, and are lucky to call them our friends. We are so thankful that they are in our lives, on so many levels.
2) Appreciation for everyday life.
Sienna can still dance and twirl. Once this spring, she even used the monkey bars. When she was diagnosed at 2 she couldn’t reach above her ears and I thought she never would again. I had accepted that. Most of her FOP peers cannot reach above their heads, and many cannot reach to touch their heads at all. So as some motion has come back for Sienna over the years, I still feel like it is a temporary gift that I shouldn’t take for granted. Maybe it’s because of what we’re doing – the medications she’s taking, our keeping her safe from falls. Maybe it’s because she’s growing so fast. Maybe it’s luck or divine intervention. But I don’t take it for granted for one second. So when she hung from those bars I panicked and told her to let go. And she said please please please it doesn’t hurt. So I let her hang one more time for about 3 seconds, and then begged her to stop. When she stopped I took a quick picture to remember it, and then I panicked for the next two weeks waiting for a flare up. And it didn’t happen, thank goodness.
Here is that picture – so proud of herself!
I see pictures from friends and family of their kids doing gymnastics, tumbling, in bounce houses, playing sports, and I do feel a pang of jealousy because Sienna would love all of those activities. But I am so grateful for every single thing that she can do (which is most everyday things!).
We also had a great experience this weekend. The Maritime aquarium near us has a study boat tour where for about $20 a person, you get a 2 and a half hour boat ride including a great lesson in marine wildlife for kids. It was an activity that Sienna was fully able to participate in like every other kid. And she was so engaged, watching the instructors and hanging on every word. These pictures are my absolute favorite. The boat pulled up wildlife and we got to pick through it to look for living creatures to put in the tank and study.
This little crabby was too small and needed to be thrown back:
After studying the fish, they needed help being put back into the sound. They asked for volunteers – look at that arm! I love this picture not just because of how high she could reach, but because Sienna is sometimes shy with new people, and she was so excited to volunteer. Her arm shot right up and stayed there until a fish was in her hands.
Here she is helping put a flounder back to sea:
Even after her turn, here she is, still volunteering for another turn. (politely, of course, so she did, in fact, get another turn! :))
I think anyone would have been grateful for this experience, but I think I have an extra level of appreciation for it because Sienna was able to participate so fully and no one else on that boat knew or needed to know that she was anything but a kid who loves animals.
There are many other things I am thankful for: a worldwide network of new friends who we never would have met otherwise, but who would all drop everything to help us (as we would for them), a bit of time in a bubble where we can skip any event during flu season without guilt, a new perspective on life (things I used to worry about like public speaking suddenly became a non-issue), and of course, the never ending support of family and friends who are always there for us and cheering for Sienna. Even friends of friends and new friends have overwhelmed us with their support, showing us what a good place the world can be.
Life is definitely not without stress, and I of course still wish FOP had never entered our lives. But I am thankful for the experiences we have had, and I truly believe an effective treatment is coming soon. I can see it.
Thank you to everyone who has supported us over the past four years and to everyone who has made F.O.P. their life’s work long before we came on the scene. I have high hopes for next year’s diagnose-a-versary update!
Rare Mom 