The vital toes – please remember the toes

Posted by Karen - September 30th, 2012

Posted by Karen

“You would have to fill 10 football stadiums before you’d find a single person with FOP.” – Dr. Frederick Kaplan, Fibrodysplasia Ossificans Progressiva researcher

If you filled all those stadiums in British Columbia, where my family lives, my daughter would be that one person.  Further, in all of Canada, there are only 15-20 people (I know of 18) who have FOP.  Yep, FOP is rare, rare, rare.

And it’s such a nasty thing to have…  At some point between birth and age 18 (though most are before age 5), FOP begins to do its dirty work.  Swellings pop up in muscles, ligaments and tendons, turning parts of those tissues into bone and progressively locking joints.  There’s no cure for this rotter of a genetic condition, nor even any effective treatment.  But though no-one can do anything about FOP (at least right now – keeping fingers crossed for the future), it’s incredibly important for people with FOP to get the correct diagnosis.

Why?  There are a couple of reasons.  One is peace of mind.  Imagine having your joints lock, and losing mobility, and not knowing why…  I’ve known people who had that experience.  A few years ago, the Canadian FOP Network (our Canadian charity for FOP) held a conference and family meeting, and we had someone visit all the way from one of the countries in eastern Europe – his child, who was then aged 18, had just been diagnosed despite living with the symptoms for many years.  For that man, getting the FOP diagnosis for his child was a profound and life-changing event.  The family finally had answers.

The second important reason is to prevent harm to the person with FOP.  And friends, this one is SUCH a biggie.  I mean huge.  Really, really huge.  This is the crucial bit – a feature of FOP is that it often treats trauma to the body as a signal to flare-up, cause painful swelling and start killing off healthy soft tissue and replacing it with bone.  And guess what?  “Trauma” includes even something as minimal as an intra-muscular injection for vaccination purposes.  I know of at least 2 pre-diagnosis children with FOP who had their first flare-ups as a resut of standard childhood immunizations (luckily my own Miranda made it through these uneventfully, as she too was undiagnosed when vaccinated).

If intra-muscular injection is enough to trigger FOP, imagine what happens if a surgeon cuts into the body of a person with FOP…  That well- meaning incision can make FOP flare-up and spread around the sufferer’s body like wildfire.  Surgery is to be strictly avoided by people with FOP, unless necessary for life-saving purposes.  However… Because most people (including physicians) have never heard of FOP, children who present with suspicious swellings are often misdiagnosed with cancer.  Which leads to, what else, surgery.

Here’s what happens.  A little boy with undiagnosed FOP suddenly develops a swelling on his neck.  Concerned, his parents take him to their physician.  The doctor thinks that the lump looks bad, very bad indeed, and swifly refers the child for a cancer assessment.  The boy is examined, the specialist is concerned, and a biopsy is carried out.  As a result of the act of biopsy, the swelling becomes even bigger, and starts spreading around the child’s neck and upper back.  Meanwhile, the biopsy reveals wildly proliferating cells, indicative of an aggressive cancer.  On the basis of the biopsy, and the alarmingly rapid growing of swelling on the child’s body, surgery to remove the “cancerous” mass is carried out.  The surgery in turn causes more flare-ups, and the whole situation snowballs disastrously.  In one famous case several years ago, surgeons removed a girl’s entire arm and shoulder joint because the surgeons believed her shoulder was riddled with cancer.

At some point in this horrible situation, the doctors notice that this cancer isn’t behaving typically.  They realize that in the area where the lump first appeared, a bump of bone has appeared.  What on earth is going on?  The doctors start investigating other diagnoses, and someone finally stumbles on FOP.  The child gets properly diagnosed, but not before unnecessary surgeries have done a terrible number on his body and caused irreparable damage, and not before the family has been put through unimaginable mental turmoil believing the child was being treated for fast-spreading and life-threatening cancer.  It’s just horrifying, and heartbreaking.

In Miranda’s case, our little sweetheart avoided this fate by the narrowest of threads.  When we took Miranda to see a pediatrician when she had a lump on her neck at age 2, it looked like we were headed down the path I’ve described above.  We were waiting for a biopsy to be scheduled when we got a sudden phone call from our doctor telling us that surgery was off the table, and that we were to head for an appointment with medical genetics 3 days later.  At that appointment, Miranda was properly diagnosed with FOP.  I later learned that by chance, a radiologist who looked at some x-rays of Miranda had heard of FOP, and thought this might be it.  He was right.  I shudder to think about what almost happened to my precious girl.

As it happened, the radiologist in our case recognized FOP because of, get this, an x-ray of Miranda’s TOES.  Yes, her toes.  We later learned that a deformation of the big toes is the characteristic first sign of FOP.  A person with FOP typically has big toes on both feet which are a bit smaller than normal, they don’t bend at the last joint, and they are accompanied by a “bunion”-like protrusion at the joint which connects with the foot.  The big toes are often angled inward as well (NOTE- in a few ultra-rare genetic variations of FOP, the big toe may be missing altogether, or may present with other features.)  This big toe deformity is clearly visible to the naked eye, and is present from birth.  A few more fortunate children with FOP have been diagnosed shortly after birth because medical professionals knew of FOP and saw the toe deformity.

Those toes are just so very crucial.  If doctors and nurses knew about the bilateral toe deformity, a lot of misery connected to misdiagnosis of FOP could be avoided.  So I’m now going to ask you a favour.  Please, please, please remember my message about the toes, and if you ever come across a baby or young child who seems otherwise normal but has big toes with the features I’ve described, advise the family sensitively (but firmly) to have the child investigated for FOP as soon as humanly possibly.  Avoiding medically inflicted damage can mean the difference between early disability and several years of relatively good movement for a child with FOP.

Also, if you like, please feel free to share this blog on social media.  We really need to spread the word to prevent future FOP misdiagnosis tragedies.

Because a picture is worth a thousand words, here are a couple of pictures of the infamous FOP toes…

These are the toes of Erin McCloskey (the daughter of my co-blogger, Suzanne), circa age 3.

Miranda's toes, circa age 7.

3 Responses to “The vital toes – please remember the toes”

  1. Jo Holzer says:

    Bless you for this blog!! I totally agree… The toes MUST be exposed to save other children. A thousand thanks!!!

  2. Heather says:

    Thank you for this! I’m 110% positive I have this. My toes look exactly like your daughters. I’m not sure what to do, the only thing is i am 19 years old and still never had a flare up. I’ve never had any sort of trauma to trigger it. So now I sit and just worry myself like crazy I wish I could show a photo of my feet to you but I don’t see where I can add one.

  3. Paul Brooke says:

    HI there—- Wow, what a revelation for me. I’m 63 years old and have had big toes like your photos all my life, and no one—- not any doctor I have ever asked—-has ever told me why I was born that way. I have never heard of FOP. I have been searching for an answer forever. If this is of interest to you, please let me know. If I do indeed have “FOP” then I’m one of the 15-20 people in Canada who have it, like your daughter and the other girl. Thanks again, Paul in North Vancouver, BC

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