“There’s no treatment for FOP, so what’s the big deal about diagnosis?”

Posted by Karen - March 2nd, 2014

Posted by Karen

Nope, nobody has ever asked me the question in the title of this post. But, I can kind of imagine someone thinking it… If you didn’t know a lot about Fibrodysplasia Ossificans Progressiva, you might think diagnosing more people doesn’t much matter – after all, there is no treatment which those folks are missing out on.

I wish with all my heart that we DID have a medicine for FOP. There’s a good chance we may be there in a few years, but for now, there’s nothing. Once FOP has a person in its grips, there’s no treatment which will reverse it or stop it. But let’s focus on that point right there – you can’t reverse or stop it, but there is definitely something you can do to keep its effects at a minimum for as long as possible. Specifically, you can avoid traumatizing the muscles, ligaments and tendons of a person with FOP so as to not provoke the beast.

Now there’s the crux of the problem… FOP causes physical abnormalities, both before and after becoming symptomatic, the kinds of physical differences which doctors often think can be “fixed” by manipulating the human body in one way or other. And guess what? Those things the doctors do? They often make FOP worse. FOP will generally react to efforts to physically change the body by going haywire and replacing healthy muscle tissues with bone.

What do I mean by this? Let’s start by talking about the mother of all big FOP no-nos, elective (non vital) surgeries. I can’t begin to even tell you how many people with undiagnosed FOP ended up under the surgeon’s knife. “Hey – this kid has a big lump on his back. Let’s get in there and biopsy it, find out what it is.” NO NO NO NO!!!! Absolutely the wrong thing! That innocent biopsy can make the bump on the back spread like wildfire, running up and down the spine and around the chest, leaving ribbons and knobs of bone in its wake.

Want to hear a couple of especially bad stories? I know a woman who, as a young girl before diagnosis, had an FOP flare-up in her knee which progressed and left behind some bone. She ended up seeing a surgeon for consultation, and unsurprisingly he recommended surgery to remove the bone. She had the surgery, and promptly lost whatever residual motion the original flare-up had left her with. Not only that, but the procedure resulted in her knee tightening up so much that her leg now bows the other direction. In another notorious example, an undiagnosed girl had a lump on her shoulder, which doctors believed to be cancer. The surgeons went in to remove the “cancer”, and decided that it had “progressed too far” and they had to take off her whole arm. The whole arm!

In addition to the two stories above, I know of a handful of other incidents in which something as innocent – and usually desirable – as a childhood intramuscular vaccination resulted in kids with undiagnosed FOP developing bone in their legs and losing mobility.

So you see, knowing that a person has FOP is vital so that the “wonders of modern medicine” don’t end up permanently disabling a person who has that unfortunate little mutated gene.

Did my daughter experience anything like this? I am extremely relieved to say that she did not. She never had a biopsy, or procedure to remove a lump, and her childhood vaccinations proceeded without incident (phew). She did, however, go through a phase when she was several months old in which we were directed to use little “splints” to straighten out her thumbs and her toes. These interventions didn’t have the desired effect, but at least they didn’t cause any flare-ups – though they well could have.

Our physiotherapist was convinced that splints on Miranda's toes would eventually pull them outward to a more normal appearance.  Therefore, we had these little neoprene and plastic numbers on her feet for several months.  They did nothing.

Miranda, maybe 4 or 5 months old, with neoprene splints on toes and thumbs.

And that, my friends, is why we need to make sure everyone with FOP gets diagnosed.


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