There are lots of strange and puzzling things about Fibrodysplasia ossificans progressiva. One of those odd features is that FOP isn’t happening all the time, 24 hours per day from a child’s birth. Instead, it waits until a certain point in the child’s life, becomes symptomatic and then proceeds after that in fits and starts. This week, scientists announced a newly reported study which sheds some light on this subject:
http://insciences.org/articles.php?user=insciences&tag=Fibrodysplasia%20ossificans%20progressiva
Unsurprisingly, the researchers from the UPenn “FOP Lab” spearheaded the effort, and they collaborated with scientists from Japan and Germany. The study doesn’t explain everything, but is a good start to understanding those two confusing aspects of FOP: the variable age of onset and the progression in waves.
First, the age of onset… If you were to ask an expert about the age at which FOP becomes symptomatic, the commonly given answer is, “usually by age 5″. I’m sure I read once that something like 50% of people with FOP had their first flare-up of the condition before reaching their 6th birthdays. My daughter Miranda fit this picture exactly – she began having swellings on her head around 18 months of age, and by age 2 years, 3 months, she had her first FOP swelling on her neck. Erin McCloskey, Miranda’s “Friend With FOP” who’s parents designed this website, also had her first FOP flare-ups before age 3. Anecdotally, from talking to other parents, I’d say you can probably narrow the range even further and say that most kids become symptomatic with FOP between the first and fifth birthdays. That being said, I know of at least a few cases where babies had flare-ups before the end of their first year. That was the case for little Joshua Scoble, who was recently featured on NBC’s “Today Show”.
However… If 50% of kids are symptomatic by age 5, that necessarily means that 50% are not. I would venture to guess that many in this category probably become symptomatic soon after age 5, but that’s by no means a given. I know a handful of adults with FOP who had their first known FOP flare-ups at age 15 and 16, and I know of a couple more who reached age 17 and 18. Finally, I even know of a couple of people who were adults when FOP began for them – I read of one person who was 22 years of age, and I heard through the grapevine of someone who was over 30 (a woman who had even had 2 children by that time, amazingly).
It amazes me to think of it… Some people with FOP go so very many years without signs of FOP (of course, other than the signature big toe deformity). These kids fall on the ice learning to skate, skin their knees, get kicked in soccer games, bend their backs over doing gymnastics, and many, many other things that any child will do, and none of it provokes any FOP flare-up… Until one fateful day. When that day comes, suddenly FOP flares up, often in multiple sites, and ongoing for months at a time. Why? Why on earth does that happen? What’s the difference between before the onset of FOP symptoms and after???
The second thing, which I’m sure must be related to the variable age for FOP onset, is the fact that FOP progresses in waves. It seems often to occur that when FOP first becomes symptomatic, it bursts on the scene (so to speak) and spreads to multiple sites on the body. At one terrible point a few months after Miranda’s FOP began, she actually had SEVEN different FOP lesions ongoing at the same time… God that was horrrible. Again, I’ve heard similar stories from other parents.
Anyway, these flare-ups begin, and then often progress from one to another to another for several months. But then, for reasons no-one knows, the chain of flare-ups comes to an end. The swellings take a break for a while at that point – generally for at least a few months, but sometimes longer… and then resume. Thankfully for Miranda, after her flares broke for the first few months and then resumed, they didn’t attack again with the same virulence as the first time around – although her second set of flares lasted about 7 or 8 months, longer even than the first ones did, she never had more than 2 at once. Also, after the second set of interconnected flare-ups ended, she hasn’t since then had any flare-ups which spread from one to another to another – instead, they’ve appeared in one spot, swelled, and then resolved to bone (I think that may also be typical for FOP, but I’m not sure).
Sometimes the break time between flare-ups can be very long. It’s not uncommon for people with FOP, especially adults, to have no flare-ups for years at a time. Also oddly enough, there doesn’t seem to be any rhyme or reason to it. A person might have flare-ups off and on, off and on for a number of years, with only breaks of a few months in between, and then it suddenly stops – for a long, lone time. A good friend of mine is an adult with FOP, and she told me that after having flare-ups regularly throughout her childhood and teen years, she then had a break with no lesions for 9 years. Then, she had another flare-up, and then again no more for 6 years and counting.
So I ask again… Why, why, why does that happen? What causes FOP to enter those periods where nothing goes on? There are stories galore of people with FOP being apparently in one of those dormant periods and having a serious injury which leads to no FOP consequences. At other times, when FOP is active, the same person goes out for a walk, strains the body in just the wrong way (without doing even anything specific), and ends up with a flare-up.
There’s got to be a reason why these things happen, and it seems to make sense that variable age of onset and progression in waves are connected. There must be a single explanation why. If the scientists could just figure out what it is, maybe they could take that knowledge and use it to design a way to block active FOP. It’s good to know that the study referenced in the link above has given our researchers the first glimmerings of understanding in this direction.
Here's Miranda, who has no flare-ups at the moment (and may she long remain that way), refusing to pose for me because she wants to play her computer game...
