That first FOP moment…

Posted by Karen - November 23rd, 2014

A short time ago, I got to know a family with a child who had been recently diagnosed with fibrodysplasia ossificans progressiva. As it happens, the FOP diagnosis coincided roughly (say, within about a year) of the child becoming noticeably symptomatic with FOP flare-ups. As often happens when I learn of new families, my internal musing turned to the fact that there are definitely a few different ways families experience the FOP diagnosis. It is absolutely NOT the same for everyone… For me, this is yet another one of the strange and fascinating things about FOP.

My family’s experience was pretty typical, and probably represents the biggest category of FOP diagnoses. This is where you have a child about age 5 or under who becomes symptomatic with the characteristic swellings of FOP, and after a period of misdiagnosis or “undiagnosis” (the latter was the case for us), the disorder is finally recognized. The FOP diagnosis corresponds with an initial period of brutal FOP activity, with swellings coming and going and new bone being formed for many months at a time. This is a terrible, horrible thing to go through… But if you MUST get an FOP diagnosis, this experience does arguably have (believe it or not) some things to recommend it. For one thing, the knowledge and the experience of FOP coincide. The family is plunged in head first, and it all happens at once – no wondering or worrying about what will happen, because it’s already occurring. Kind of like ripping a bandage cleanly off flesh all in one go… Additionally, when a young child loses movement due to the rogue bone formation of FOP, she or he grows up never knowing what it’s like to be any other way, because they’re too young to remember.

One of my favourite pictures of Miranda, taken in April of 2007 just before FOP exploded in her little body.

One of my favourite pictures of Miranda, taken in April of 2007 just before FOP exploded in her little body. Miranda has absolutely no memory of being able to move her arms like this.

Miranda and her friend Erin, two 8 year olds who could benefit so much from a drug for FOP.

Miranda and her friend Erin, about a year ago (both age 8). Miranda has had both elbows locked in this position since age 3, and Erin’s left elbow has been limited roughly as long.

Another way in which FOP knowledge and experience can coincide is where, for whatever reason, FOP decides not to rear it’s ugly head until the child is considerably older – say, maybe over age 10 – and the family doesn’t learn about FOP until that time.  In this instance, there’s still the whole “plunge in head first” sort of experience. However, there is one distinct difference, which is that the child is old enough to remember what it was like to NOT be restricted by FOP. These are kids who did ice skating, swung on monkey bars in the playground, played soccer, rode dirt bikes, and whose families never had to give any thought to extra safety beyond what you need for a “typical” kid. I even know of one girl who was became symptomatic in her mid-teens while she was trying out for a school sports team! And then, post-diagnosis, the ability to do all of those things in a free and unrestricted manner just disappears, either because it’s too dangerous or because the child has lost the physical ability to do them. What’s it like to be a person, or family member of such person, who had freedom ripped away like that? I don’t personally know, as this was not my family’s experience (Miranda was diagnosed at age 2 years + 3 months, and lost arm and shoulder mobility almost immediately). But when I think about it, I go back and forth between thinking “Well, at least the person and his or her family has all those good memories and had all those good years” and “It must be extremely frustrating and upsetting to be so aware of what you’ve lost.”

There is yet another experience, and this is what happens when the correct diagnosis is somehow made at an early age, but the child does not become symptomatic until several months or years later. This is a small group, to be sure, but there are a number of folks out there in this category. In principle, diagnosis before symptoms is ideal, because families can take steps to keep the child as safe as possible. This is how it SHOULD be for everyone – in a perfect world (sigh). Anyway, this one is the opposite to the whole “plunge in at once” scenario, because the family is introduced to FOP without actually experiencing it. The most extreme example of a case like this which I’m aware of is one where a baby was diagnosed with FOP shortly after birth, but then the child did not become symptomatic until age 18. 18!! So on the one hand, a family in this scenario has the the optimal situation of letting the child experience life while putting safety first and maybe, just maybe, delaying FOP onset as long as possible. On the other hand, this sounds terrifying to me – FOP is a ticking time-bomb waiting to explode, and no-one knows when or how it will happen. My heart very, very much goes out to those folks experiencing this situation; I know of at least a handful right now.

I believe a day will eventually come when diagnosis will lead to immediate treatment, and no-one has to experience the nightmare of FOP progression. A family will find out about FOP, and right away, will learn that there’s a medication to rope it under control. But until that day when we have a drug to treat FOP, all new families are going to have one of these three experiences.

PS – Speaking of FOP medications, there was a “by invitation only” conference in Boston this weekend for scientists engaged in investigating drugs to treat FOP. I’m burning with curiosity to find out what happened at the conference, but as of yet I know pretty much nothing! If I learn anything I can pass along, you can bet it will be the subject of a future blog post…

2 Responses to “That first FOP moment…”

  1. Michael Shaffer says:

    I would first like to say thank you, for your time, effort in writing these blogs. I fully realize all the time constraints in raising a family, with work and such but I really appreciate that you do. It is an excellent way for me and others to stay informed, and have an outlet for communicating with someone who fully understands with what we feel and go though on a daily basis.

    My family first met you and Miranda in London at the FOP conference. My son Logan is 19 now and is going though an active flare up, it is so hard seeing him suffer. This disease is terrible.

    Although I have much more to talk about I’m running short on time, just wanted to give updates on Logan and tell you thank you for your involvement with FOP. If I can be of any assistance please don’t hesitate to let me know.


    Mike Shaffer

  2. Marilyn Hair says:

    Nice reflections. Karen. Don’t worry, a report about what happened at the Drug Development Forum as well as a video will be out soon. The event was planned for researchers and pharmaceutical companies, with a few patients of different ages so scientists could see FOP and learn about FOP from patients and parents. It was by invitation for researchers and pharmaceuticals, too. My apologizes if we didn’t say enough ahead of time about it.

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