FOP around the world

Posted by Karen - February 16th, 2014

Posted by KarenWhenever I hear about a person newly diagnosed with my daughter Miranda’s disorder, Fibrodysplasia Ossificans Progressiva, my first feeling is profound sadness for the individual and his or her family – but pretty soon that moves on to relief, because it means another child (it’s almost always kids who are newly identified) has the right diagnosis and will avoid the tremendous harm that comes to people with FOP from incorrect medical treatment.  What kind of harm are we talking about here?  Well, consider that FOP is very frequently misdiagnosed as cancer, which leads to surgeries…  And when a doctor cuts into the tissue of a person with FOP, that’s exactly the type of thing which makes FOP go haywire and leads to swelling, rogue bone formation and progressive immobility and disability.  Not to mention that even fairly minor traumas suffered by people in everyday life can provoke the FOP beast into action.  In order to minimize risks of harm, it’s extremely, exceptionally important for people with FOP to be properly diagnosed.  Sadly, that’s something that’s pretty abysmally poor on a worldwide scale.

Let’s look at how we’re doing in terms of diagnosis.  In Canada, I think we’ve probably identified everybody, or almost everybody, with the exception of possibly a child or two who hasn’t yet become symptomatic.  The Canadian FOP Network, our Canadian FOP organization, knows of 18 cases for sure, possibly a 19th (unconfirmed older adult).  Given that Canada’s population is a bit over 30 million, that looks about right, since FOP prevalence worldwide is said to be roughly 1 in 2 million people.  I think the United States is about right as well; it seems to me I’ve heard that there are something like 180 people in the US who are known to have FOP, and that’s in a population of about 317 million.  Again, probably the only undiagnosed people in the US are kids whose families are trying to figure out what’s wrong with them.

Another world region that’s doing well in terms of diagnosis is Scandinavia.  My friend Marie Fahlberg, who is the leader of the Scandinavian FOP group FOP Sverige, told me a few years ago that they knew (at that time) of 22 people with FOP spread throughout Sweden, Norway, Denmark, Finland and Iceland, which together have a population of 26 million.  Interestingly, the FOP prevalence in Scandinavia is closer to 1 in 1 million…  This is probably just coincidence, but it’s interesting.  Looks like Scandinavia has probably found all or almost all of its people with FOP.

Those are the ones I specifically know of, though I further understand that much of the Western world conforms to the approximate 1 in 2 million figure for people with FOP.  In fact, FOP specialists say that Western world countries are the source of that statistic.  If we apply this to the world as a whole, which has about 7.2 billion people, this means there are approximately 3,600 people on Earth who have FOP.  That’s 3,600 people who really well and truly need to know why their bodies behave in such an extreme manner, causing them to grow extra bones and lose the ability to move.  And so, how many of those 3,600 have been identified by FOP scientists?  I am distressed to tell you that the number is about 800.  This means that less than 25% of the people who have FOP have been diagnosed.  OK, maybe there are a few who have the right diagnosis but are unknown to those who study FOP, but I’m willing to bet this is a pretty small handful (in my experience, people with FOP tend to seek each other out).

A figure of less than 25% is an achingly sad number.  2,800 people out there have FOP and don’t know it.  2,800 people are at risk of progressive disability from improper medical treatment, daily traumas and even regular exercise.  2,800 people also don’t know that scientists at the University of Pennsylvania have discovered the genetic cause of FOP, and that those researchers and others across the world are within a few years of testing drugs which may halt the progression of FOP.

I’d like to think that things like this blog post will help make a difference.  But you know what?  Probably not, because the places this blog will spread to (if I’m lucky) are all in English speaking countries, and even then will be read by people who already know about FOP.  I’m guessing that the majority of the undiagnosed 2,800 people live in Africa and Asia, in poverty stricken areas where people don’t see doctors, much less specialists who might have heard of FOP.

I have to say that I’m stumped.  I really wish I knew what the magic bullet is to help identify those 2,800 undiagnosed people.  If anybody’s got any great ideas, I’m all ears.  There’s not a whole lot I can do, except to say to anyone out there reading this post – please remember the connection between “tumours and toes“.  If you encounter a child with abnormally shaped great toes on both feet (these toes may be smaller than normal, bent over and missing a joint or missing the whole toe), think of FOP, and if the person with those toes also has unexplained, tumour-like swellings, PLEASE, PLEASE and triple-please advise them to urgently seek medical consideration for FOP.

FOP toes can look like this…

FOP toes can look like this...

…or maybe like this, a bit more subtle…

...or maybe like this, a bit more subtle...

…and here’s what they might look like from the bottom…

My daughter Miranda's

…and finally, here’s what FOP is doing to the skeleton of a person with the disorder.

Harry E skeleton

 

3 Responses to “FOP around the world”

  1. Malcolm Munro says:

    Karen, to add to the discussion, remember that many of those who are undiagnosed are in areas of the world where they receive no medical attention at all, or at best, the most rudimentary form. Yet even in North America in which most children with tumors receive swift medical attention from highly trained physicians, misdiagnosis is still very high with the majority of cases taking several years before a correct diagnosis occurs. Unfortunately, awareness of FOP is extremely low even among specialists such as pediatricians, the specialists most likely to encounter a child with FOP. Pediatricians should be the target group for awareness efforts. But how do we reach them?

  2. Lara says:

    I agree Karen. It is distressing and I have no idea how to remedy that. Basic medical care needs to be raised worldwide first methinks. Closer to home, I think the answer lies in educating residents during their weekly rounds when they attend presentations for course credit. This is the approach the RDF group wants to take here to promote the RDF parent resource network. After our last trip to ER, I think their idea is spot on. The resident was fascinated, full of questions and eagerly responded yes to “would you like to see the toes?”. The ER dr? Looked disinterested!

  3. i am spending quite sometime on fop please
    search in my magazines you will have some idea



Leave a Reply