FOP – hey, what’s that?

Posted by Karen - April 20th, 2014

Posted by Karen

April 23, 2014 is Fibrodysplasia Ossificans Progressiva Awareness Day, self-proclaimed by the International FOP Association. Why have such a day? Well, for one thing, FOP charities (and there are a few) would love it if all of you readers would DONATE DONATE DONATE your brains out to get us closer to a cure for FOP! Yeah, that would be sweet… But something which is at least as important is to simply get the word out that there is such a thing as FOP, and how to recognize it. SO. VERY. VITAL.

IFOPA awareness day

And so, in honour of FOP Awareness Day, I’m going to tell you a story… Once upon a time, there was a lovely little girl named Eden (named changed for this tale). Eden was 4 years old and cute as a button, and her family were absolutely devastated when medical experts diagnosed her with cancer. Cancer, in a 4 year old, seems unbelievably sad and unfair, and this poor little girl was in for a rough ride. First, surgeons operated to remove the tumour on Eden’s torso, which had grown so big it could be seen under the skin with the naked eye. Next, they subjected her to a regime of chemotherapy, which caused her to feel horridly ill for weeks and lose all her hair. While Eden was experiencing this extremely taxing treatment, her parents of course lived in agony, seeing their child in pain and fearing that they’d lose their beloved little girl. And then, and then…

This story has a bizarre ending. What happened was that it turned out Eden didn’t have cancer at all. Nope, not cancer. Instead, this sweet little girl had FOP. And when Eden’s parents found out about FOP, they had to do a complete 180, let go of the cancer story and learn all about how the genetic disorder FOP would, through progressive flare-ups, turn their daughter’s muscles, ligaments and tendons to bone, causing her joints to fuse and limiting her ability to move. In the midst of this extremely difficult time, horrible on its own, Eden’s parents also had to live with the extremely distressing knowledge that Eden’s surgery, chemo, sickness and hair loss were all completely unnecessary, and not only that, but that the surgery had actually in and of itself caused FOP to produce more bone in Eden’s body (because that’s what FOP does, when provoked by traumas, including surgical procedures).

I cannot even begin to imagine how horrible this must all have been. And to know that at least the first half, the “cancer” half, wouldn’t have happened at all if someone had recognized FOP right from the beginning… Unfathomable.

OK, you may be thinking, but surely this must have been decades ago; that kind of thing wouldn’t happen these days! After all, there is another story of a girl with FOP who was also misdiagnosed with cancer, causing surgeons to amputate her whole arm, and that happened almost 30 years ago. Well, guess what? Wrong. My daughter Miranda was diagnosed with FOP just 7 years ago yesterday (by coincidence), and Eden’s story happened later, about a year or two AFTER Miranda’s diagnosis. Just about 5 years ago was when Eden went through unnecessary and even harmful treatment for a cancer she didn’t have.

Now, in fairness to Eden’s doctors, FOP is exceptionally rare – just one in roughly two million people has the condition, including less than 300 people in Eden’s home country, the USA. And, physicians are trained to look for the most likely explanation for a health problem – when they hear hoof beats, so the story goes, they are supposed to think “horse” rather than “zebra”. Eden’s situation certainly seemed consistent with cancer – a small child, essentially normal in appearance (with one important exception, which I will talk about in a moment), presents with a prominent lump under the skin, and when biopsied, that lump looks an awful lot like its full of cancerous cells (this is, unfortunately, what FOP lesions look like under a microscope). It’s definitely terrible that the doctors made the mistake that they did, but it’s not surprising… Something like 90% of people with FOP are either misdiagnosed – often with cancer – or at least undiagnosed for a significant period of time, despite being born with the condition. Very rare are the situations where FOP is recognized shortly after a child’s birth, as it could be.

Which brings me to the most important point in this blog post – HOW TO RECOGNIZE FOP. If more people knew about FOP, and tucked that knowledge away in their minds until they see it before them, more children would avoid Eden’s experience. Here’s what to look for:

Say you’re looking at a baby, and that baby seems completely normal except that his two great toes are unusual – they’re a little (or a lot) smaller than as is typical, they are accompanied by a “bunion” like protrusion on each foot, and they are (possibly, though not necessarily) angled inward toward the second toe. The baby’s thumbs may also be somewhat like this, though the effect is less pronounced on the hands. This might be all you’re seeing – but these are the classic signs of FOP before it’s become symptomatic.  Here are some photos of FOP toes:

This is not the greatest photo in the world, but anyway, check out the great toe.

This is not the greatest photo in the world, but anyway, check out the great toe in this photo of a newborn with FOP.

My daughter Miranda's     ...or maybe like this, a bit more subtle...  FOP toes can look like this...

The three photos above show what FOP toes might look like in a toddler or preschooler.

You may, however, ultimately see a child who’s a bit older – typically between ages 2 and 5, though it could be earlier, and can even be delayed to early adulthood – and that child has the unusual toes along with a strange lump which brings to mind a tumour. If you see a child who fits this description, please remember that “tumours and toes” together is even more highly suspicious for FOP.

If you’re a medical care provider and you see a child who fits either of the above descriptions, PLEASE, as soon as possible, get the child referred to Medical Genetics for consideration of FOP. If you’re not a medical care provider and just an average person, I urge you to bring FOP to the child’s parents attention (as hard as this may be to do, and as little as they may not want to hear it). The earlier that FOP is diagnosed, the better potential the child has to avoid unnecessary and harmful medical treatment for conditions which he or she doesn’t have. Additionally, with some lifestyle modifications, the family has a better hope of avoiding traumas to the child which can cause more FOP flare-ups and progression of disability (FOP will still progress, but probably more slowly and later in life).

Finally – can I get a copy and repost of this blog on any of your social media profiles? I would appreciate it ever so much. It would really help spread the word.

April 23, 2014 – FOP Awareness Day. Please be aware.

Harry E skeleton

Skeleton of FOP patient Harry Eastlack


2 Responses to “FOP – hey, what’s that?”

  1. Marilyn Hair says:

    Thanks for spreading FOP Awareness ! You wrote a compelling story. My Sarah was diagnosed a year before the terrible misdiagnosis that led to a child’s arm being amputated unnecessarily. I wanted to add that the reason FOP Awareness Day is April 23rd is to commemorate the discovery of the FOP gene on April 23, 2006. See:

  2. Suzanne Hollywood says:

    As always, beautifully wriitten my friend <3

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