The early days of an FOP diagnosis

Posted by Karen - October 2nd, 2016

There’s recently been a cluster of newly diagnosed people who’ve joined the FOP community; I learn of this when each has a family member added to a private FOP Facebook group to which I belong. Every time I see one of these newbies, which are almost always children, I’m taken back to when my family were in this situation, way back in 2007. Saying that this is a “hard time” is putting it in the mildest possible terms. There’s ever so much to figure out – which, of course, got me thinking that this would be a good topic for a blog post…

Therefore, in case it helps anybody out there, here’s my discussion of “stuff I learned in the first year after my daughter’s diagnosis with fibrodysplasia ossificans progressiva”. The good, the bad, and the ugly. And yes, believe it or not, there is some good.

Before I begin, a bit of background to our situation. My daughter Miranda began getting bumps on her head, which we later learned were FOP flare-ups, at 18 months of age. We went through several months of doctors scratching their heads and declaring themselves stumped, and then at just over age 2, Miranda developed a lump on her neck. At age 2 years and 3 months (on April 19, 2007, to be precise), she was finally correctly diagnosed with FOP, and our 9 year+ journey began. Thereafter, Miranda had a cascade of multiple flare-ups, and over the course of just over a year, she developed FOP bone in her back, shoulders, torso, and both elbows. She also lost 100% of her movement in one shoulder, 80% of movement in the other shoulder and one elbow, and about 50% of movement in the other elbow. FOP stuff got very real for us, very quickly. There was an extremely steep learning curve for us.

Miranda, a couple of months before the FOP diagnosis.

Miranda, a couple of months before the FOP diagnosis.

One of the first things I learned is that FOP is the “I don’t know disease” (sigh). By this I mean that with FOP, you seldom get a clear, firm answer on how to handle almost anything. Ask 10 different people how to deal with any given situation, and you may get 10 variable answers. This is because though much is known, scientifically, about how FOP works, little is actually known about how to change the course of anything that happens with FOP. For example – Prednisone is one of the few medications which is currently THOUGHT to sometimes, if you’re lucky and the stars all align correctly, to prevent and/or diminish FOP flare-ups. But how do you know if or when to administer it? Say your toddler falls down and bumps her knee. Should you give her the 4 day, very high dose of preventative Prednisone in hopes of stopping a flare-up from occurring? Maybe yes, maybe no. Maybe it is or is not necessary. It might not be necessary if your kid is just crying because the whole thing startled her (as toddlers are won’t to do), and the bump to her knee was just a trifling thing not severe enough to cause a flare-up. But on the other hand, maybe the bump really was something more major. But how do you know what’s what??? You don’t want to mess around with Prednisone, because it’s a serious medication, so you can’t just give it frivolously for every minor bump. GAH! In the end, I found that with this and so, so many things with FOP, the best I could do was ask lots of questions of other folks dealing with FOP, make a decision on how to proceed, and then cross my fingers that I made the right choice. The whole thing is incredibly nerve-wracking for people like me who are used to researching the “right” answers to problems and then making clear-cut decisions.

A second thing I learned is that no matter how much I read about FOP and how it worked, there would still be surprises. There would also be just a ton of weird stuff you could never imagine in your wildest dreams. For instance, I remember that with Miranda’s earliest flare-ups, there was one time when she developed a whole lot of swelling in her upper back and chest. And then, one day, the swelling started to go down, but all the liquid in the swelling didn’t just dissipate – instead, gravity took it gradually down her chest, such that the lower half of her torso was hugely swollen with puffy liquid for a day or two, and then it disappeared (and I have no idea where it went – maybe she peed it out??). So, so strange. Then there was the occasion when a neck flare up tightened her neck muscle and pulled her head over to the left side. For about 10 days my toddler walked around with her head tilted almost sideways. And then, just as suddenly as it occurred, the muscle loosened and her head straightened out. Honestly, what is this bizarre stuff?

Another concept which I gradually figured out (OK, this one took longer than just that first year) is that FOP is simultaneously every bit as hard on children as it sounds, and also not even close to that bad. Huh? Here’s what I mean… On the one hand – all that bad stuff you hear about? Yes, it’s all true. People with FOP do lose the ability to move their joints, they develop extra bone all over the place, and they have progressive disability. But on the other hand, life is still surprisingly good in many ways. Based on my daughter’s experience, I can tell you that kids with FOP still laugh, have fun, play with friends, enjoy movies, act just as smart-assed as their non-FOP siblings, do childhood activities, and in many ways are very typical kids. Sure, they have some limitations, but – they’re still kids. Besides, much of the disability associated with FOP develops episodically over time; it doesn’t happen all at once, and lower body (leg) flare-ups often don’t happen until later in childhood, the teenage years, or even until the twenties or thirties. There are often long periods of time when FOP stays quiet and you don’t spend a whole lot of time thinking about it. Unlike how I thought it would be when I first heard about FOP, you and your child are not spending 24/7, 365 days a year coping with acute crisis or the threat of it. On a related note, FOP kids are (not in the typical case) requiring crisis hospitalization for emergencies, unlike the children of some of my other rare disease community parent friends.

Finally, one actually great thing about FOP as compared to many other rare diseases is that there’s a bright light on the horizon… What I mean is that there’s an amazing amount of research going on into FOP, and I’d say that the probability of an effective treatment within the next decade or so is pretty high, based on the number of advanced FOP research projects currently underway (2 of which are in clinical trials as we speak). This part is very promising. (This WASN’T the case during our first year dealing with FOP – the gene mutation discovery was only a year old at that point.)

If you’re a parent of a newly diagnosed child, I’m very sorry to hear of your child’s diagnosis. Yes, it sucks. But, if I was to sum up my family’s experience, it would be to say this: FOP is hard, and you will experience some awful times, but life goes on and it’s still a really good life for you and your child.

My daughter Miranda - age 11 and full of life.

My daughter Miranda – age 11 and full of life.

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