A board meeting, a research development, and the latest on the flare

Posted by Karen - March 5th, 2017

Sometimes long periods go by, and it seems like nothing much happens concerning my daughter Miranda’s fibrodysplasia ossificans progressiva (FOP). This is not one of those times… I feel like I’ve been focusing a lot on FOP in the past month.

First, in mid-February, I flew out to Florida to attend the annual “in person” board meeting of the International FOP Association (IFOPA). From where I live in Vancouver, Canada, that’s a SUUUUPER long way to travel for a short time… But it’s only once a year, and it’s extremely important, so it’s worthwhile. Anyway, out I went on February 9, and the board meeting happened on February 10 and 11. It was two very fully-packed days of discussions, strategizing, and planning for the coming year with the IFOPA. The first day of the meeting was exceptionally long; in part because it included an interesting 3.5 hour “research update” talk (via video conferencing) by Dr. Eileen Shore and Dr. Fred Kaplan of the University of Pennsylvania. Naturally, Drs. S and K couldn’t let us in on any secrets which haven’t yet been published, but it was valuable for us to hear about the types of projects they’re working on. Without going into great detail, let me simply say that the UPenn research lab continues to study FOP very carefully so as to fully understand it and move us closer to the all-important effective treatment or cure.

A shot of our meeting room, and some board members.

A shot of our meeting room, and some board members.

On one fascinating side-note, Dr. Shore told us that the lab became aware of a cat with bony deposits in its body, limited movement, and most interesting of all, funny little FOP-like great toes. A genetic test was conducted, and they found that the cat has the exact same genetic mutation as is found in 95% of people with FOP. I believe this is the first time FOP has ever been confirmed in a non-human animal. Most amazing! Dr. Shore added that a handful of dogs have also been found with the FOP mutation, though in dogs the mutation is slightly different than in humans (and the cat).

Anway, the big take-away I got from this 2 day whirlwind meeting was that the IFOPA has some extremely impressive people serving on the board. We are, in no particular order, 2 people living with FOP, 6 parents of children with FOP, 1 grandparent of a child with FOP, and 2 friends of the community, and honestly, all of these folks are SO capable, articulate, and intelligent. Coming from this meeting, I was extremely energized with the quality of people willing to serve on the IFOPA board. And all on a volunteer basis… Of course, all of this is just my opinion, but there you have it. (With all these great folks, I wonder why they wanted ME?? Ha ha ha!)

Next, February 28 was Rare Disease Day. As I have done a number of times in the past, I went to a celebratory event put on by our local Rare Disease Foundation. I saw a number of presentations of research done with the assistance of RDF “micro-grants” ($3,500 apiece) and heard presentations by parents of kids with rare diseases. Did you know that 1 in 10 to 12 people has a rare disease? True thing… Individually we are few, but taken en masse, that’s a LOT of people affected by rare diseases.

And, just in time for Rare Disease Day, Regeneron Pharmaceuticals announced that the medicinal compound which they’ve had in Phase 1 (initial safety) testing has come through satisfactorily. The next step is Phase 2 testing, for disease-relieving effect, on people with FOP, probably/hopefully to begin in 2017. This is extremely exciting news! Here’s a link to Regeneron’s announcement: http://www.ifopa.org/news-and-events/latest-news1/653-regeneron-update.html  This particular medicine targets a completely different part of the FOP process than is the case for the other medication in clinical testing by Clementia Pharmaceuticals. The more possibilities for an effective treatment for FOP, the better… I very much look forward to hearing more about Regeneron’s efforts and progress.

Throughout all of this we’ve also been dealing with Miranda’s left leg flare-up. The flare started as just a small region right above Miranda’s left knee, but as time went by, it spread around to the back of her thigh. Since shifting locations like this (a common occurrence with flares), it’s become considerably more painful and has caused a lot more swelling from the back of her thigh right down to her ankle. This has made it hard for my poor girl to sit comfortably. The poofy-soft comfy laz-z boy armchair is fine, but dining room chairs? Car seats? Desk chairs? All are causing her a lot of discomfort. We actually had to bring a barstool into school for her to use; she sits right on the edge of it so it doesn’t hurt the back of her thigh. My poor, poor girl… And she’s handling it like a real trouper. Hoping very much that this rotten stinking flare ends soon.

Sitting with extra pillows to take the pressure off the leg. Good thing kitty helps her feel better!

Sitting with extra pillows to take the pressure off the leg. Good thing kitty helps her feel better!

And the latest? We’re just starting our epic search for a wheelchair accessible home to move to. I’m heading out this afternoon to start looking at some open houses. Wish me luck!

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