“That baby has funny toes…”, or, on tumours and toes (not a cancer story)

Posted by Karen - February 24th, 2013

Posted by Karen

Say you have a baby.  Congratulations!  She’s beautiful, gorgeous, wonderful and sweet, and you’re delighted to have a healthy little girl.  At some point, though, you realize she does have one small peculiarity…  You notice that her big toes on both feet look a bit unusual.  They’re a little shorter than you would expect, and are accompanied by a bunion-like bump on the joint at the ball of the foot.  Maybe (though not necessarily) they’re also bent inward a bit, and slightly crossed under the second toe.   You and your doctor find this interesting, but not a cause for alarm.  You carry on, blissfully happy with your daughter, and she sails through her first couple of years.

Who cares that your little girl’s toes look a bit different?  Big deal.  I wish with all my heart that this was true…  But unfortunately, it’s not.  Those unusual toes are the first noticeable sign of Fibrodysplasia Ossificans Progressiva, or FOP.  FOP is a health concern which you definitely need to know about

FOP toes can look like this...

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

...and the toes might look like this from the bottom.

(* NOTE – in a handful of cases, people with FOP may even be missing their big toes.)

At some point in your daughter’s life, probably before age 5 (though possibly not until age 18), your daughter will develop a soft tissue swelling somewhere on her body, most likely on her head, neck or back.  This swelling will appear pretty much over night, and it will be warm, firm and painful.  This is what’s known as an “FOP flare-up”.  Inside this distressing bump, a piece of the muscle, ligament or tendon is being killed off and replaced by bone.  There is no cure or regularly effective treatment for FOP, and as these flare-ups wax and wane through your child’s life, her movement will become more and more restricted, with her joints becoming locked in place.  Eventually she will be immobilized.

If you don’t know that your girl has FOP, the most natural assumption is that the lump you’re seeing is a tumour – probably a cancerous one…  This tumour is so fast-growing and aggressive that it needs surgery to remove it, and FAST!  Right??  Wrong.  Disastrously, horribly wrong.  Given that your daughter is actually having an FOP flare-up, and has not actually developed a tumour, surgery to remove the lump can have terrible consequences.  It’s an extremely unfortunate fact about FOP that trauma to tissues, including trauma caused by cutting into flesh during surgery, can provoke the FOP beast into going haywire, and spreading far beyond the site of the original flare-up.  In the attempt to “fix” your child, the best modern medicine has to offer can cause far, far more damage than would have resulted from the original FOP flare-up.

And maybe it’s not even surgery, but something much more innocuous, like a vaccination.  I know of at least 2 or 3 kids with undiagnosed FOP who developed limiting FOP bone in a leg as a result of a standard childhood injection.

OK, FOP is a super rare genetic disorder – only 1 in 2 million people has it (caused by a new, spontaneous genetic mutation – not inherited unless the baby’s parent also has FOP).  The chance of any of the above happening to your new daughter, or son, is extremly low.  But – from the story I’ve set out, you can see that it’s VITAL to know about your child’s FOP in order to prevent unnecessary harm and early disability.  If FOP is allowed to just take its course without provocation by unnecessary medical procedures like surgery and chemotherapy (which are useful for cancer, but not FOP), then the child has a likelihood of more years of good movement ahead, rather than disability and/or obvious bodily deformity from a young age.

My daughter Miranda has FOP.  Luckily for us, her diagnosis was made before anything bad happened to her as a result of damaging medical treatment or unnecessary trauma.  As we come up to International Rare Disease Day on February 28, 2013, it’s extremely important to me to spread the word about FOP, so that more children with the disorder can be correctly diagnosed before coming to harm.  As it stands right now, a distressing 90% or so of children with FOP are misdiagnosed with cancer or other diseases before FOP is finally recognized.

And so, I’m finishing this post with one small request…  When you’re done reading this, please share it on Facebook, Twitter, etc.  I would love to have this particular blog spread far and wide.  You just never know – maybe someone will read it, recognize the symptoms of FOP and prevent another child from coming to harm.

To learn more about FOP, go to the websites of the Canadian FOP Network (www.cfopn.org), the International FOP Association (www.ifopa.org) or FOP Action (www.fopaction.co.uk).

One Response to ““That baby has funny toes…”, or, on tumours and toes (not a cancer story)”

  1. K.L. says:

    I am currently reasearching Fibrodisplasia Ossiffficans Progressiva. It is a terrible disease to have. I hope to one day find the cure.

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