3 Year Diagnose-A-Versary

Tomorrow, May 30th, marks three years since Sienna was diagnosed with FOP, the ultra-rare disease impacting 1 in 2 million people, where muscles turn to bone and progressively restrict movement. Most FOP patients, if they make it to adulthood, are essentially frozen in place. I’ve debated how (or if) to acknowledge Sienna’s diagnose-a-versary this year. To make a big fuss? To purposely not make a big fuss because FOP is not the boss of us? (but of course in that case I’d need to tell people so that they know it is a SIGNIFICANT silence). As I was debating this, May 30th crept up on me and served as a reminder, if nothing else, to post an update for Sienna’s friends and supporters.

As Sienna’s diagnose-a-versary lines up closely with the end of her very first year in preschool, I think a fitting theme is education and information sharing. In our three years in the FOP community, education and information sharing have been themes that come up over and over again:

First, there’s Sienna’s education: Sienna is a bright and busy 5 year old, learning to read, write, color and explore her world like a true scientist. (She now wants to be a doctor, a veterinarian AND a scientist!) Her progress this year in writing and coloring are especially significant as she is missing a joint in her thumbs (fairly typical for FOP), which made it harder for her to find a working grip on writing implements. She figured it out this year thanks to great teachers, practice at home, and a terrific occupational therapist who just told us Sienna has “graduated” from OT and is now up to age-appropriate levels on all her skills!

Sienna brings her lunch to preschool and I always include a little note to let her know I’m thinking about her or to make her laugh. She likes them so much that she started sneaking her own notes into my lunches that I bring to work. Here is an example of a note and a drawing of her own flower garden!

Sienna's garden

Second, there’s the education of FOP doctors, scientists and researchers: Since FOP impacts 1 in 2 million births, the chances of finding great information on it in a textbook are slim to none. The way I see it is that the key information they need comes in two forms:

1) Information we can supply as a patient community We have personally been able to participate in a flare-up survey, submit Sienna’s X-rays and MRI films to the FOP film library, contribute family blood samples twice, and Sienna will enroll in the natural history study that just opened up to children this week. Data regarding what happens during FOP flare-ups and the natural history study are critical in helping researchers understand the natural disease progression and better design future clinical trials.
2) Information that doctors, scientists and researchers share amongst themselves by publishing articles, and even sharing works in progress, in the interest of developing treatments and hopefully a cure. We saw this open sharing of information in person last November at the FOP Drug Development Forum. It was truly groundbreaking and inspiring to see attendees from so many research institutions and pharmaceutical companies working together with the patients’ best interests in mind.

This world of drug development opened up in 2006 with the discovery of the FOP gene by the Penn lab. Today, Clementia Pharmaceuticals is fielding the first ever double-blind placebo-controlled clinical trial for FOP. They have passed initial safety milestones and announced here that they plan to bring the enrollment age from 15 down to younger children later this year!
And even more excitingly (if that is a real word? If not, too bad!), other companies are also at work on FOP. I’m no scientist, so if you want the real scoop from the experts with impressive science words (though for a scientific report, it really is consumer-friendly), please click here for a link to the 24th Annual Report of the FOP Collaborative Research Project (led by the Penn team).

Here are a few highlights that stuck out to me:
– “At least nine independent laboratories, pharmaceutical or biotechnology companies are now working on the development of kinase inhibitors for FOP, at least five are working on the development of ligands traps or antibodies, and at least eight are pursuing the development of small inhibitory RNA technology – all propelled by the discovery of the FOP gene and by the identification of its robust therapeutic target – the ACVR1 receptor kinase.”
– “Completed the second-year of a comprehensive pre-clinical drug-testing and biomarker discovery program in FOP mouse models. In this program, we have identified a promising compound that partially inhibits heterotopic ossification in a mouse model of FOP. The drug of interest is currently approved
for clinical use in other indications. Pending results of ongoing studies in advanced animal models of FOP, the drug may be repurposed for a small clinical trial in children with FOP.”
While you all read novels on the beach this summer, I will be reading and re-reading this annual report!

Finally, there’s our own education and information sharing. Sometimes I wish that I had pursued a career in science or medicine so that I could better understand scientific progress when I read about it, or better yet, help progress FOP research myself. But my passion was not for science, and I probably wouldn’t recognize the cure if it walked into a room and danced a jig, but I trust that we have the right people on the case.

Sienna and I were lucky to get to give the closing speech to many of those “right people” at the FOP Drug Development Forum in November. I posted about it and shared my speech, but I now have a video to share! As horrifying as it is to to watch myself speak, I wanted to share this to again thank everyone out there who is working on treatments for FOP. And also because watching Sienna climb into that podium just makes my day. I could watch that a hundred times! I wish the angle had stayed wider the whole time to keep her antics in the frame, but sadly for most of it you only see me. For people reading this with limited time – the video is just over six and a half minutes but Sienna’s highlights are at the very beginning and end.

I spend a lot of time worrying about Sienna’s future. How will the transition to kindergarten go? What will middle school be like? Will she avoid bullying in high school? How long will she keep her mobility? Will she find true friends? Will she find love? Will she be able to have her own children? And then I remember that she is 5. That an effective treatment and a hopefully also cure are on their way. That she is going to have a fun summer filled with camps and unscheduled exploration time at the beach. That she has a great year of Kindergarten ahead of her. And THAT is the information I need to focus on.

Thank you to all of you for supporting another astounding year of progress for FOP! I can’t wait to see what this year has in store.

sienna at the wheel

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s