On “tumours and toes” – it’s FOP Awareness Day

Posted by Karen - April 23rd, 2017

Today is FOP Awareness Day, a day promoting knowledge of fibrodysplasia ossificans progressiva (FOP). My daughter Miranda, who is now 12 years old, suffers from FOP, and it’s my mission in this post to tell you all about it…

Twelve years and three months ago, my new baby daughter and I were getting ready to go home from the hospital following an easy, uneventful birth. Everything had gone perfectly, and I was euphoric. Just before we left, however, my midwife came by and said, “Miranda looks great, and is doing so well! There is just this one little thing, though –  her big toes are bent in toward her other toes, so I’d like to refer her to a pediatrician for assessment.” Thus began a journey I could never imagine in a million years.

Fast forward to 2007, over two years later – on April 19th, Miranda had an appointment with a medical geneticist at BC Children’s Hospital. On that day, we finally found out why, since her birth, Miranda had been experiencing a puzzling set of symptoms, as follows:

– noticeable at age 2 months – a stiff neck and back which made it difficult for Miranda to lay on her stomach and lift her head up;

– beginning at age 18 months – randomly appearing lumps on her scalp, which would appear one day, swell up, sometimes even shift location by a few inches, and then ultimately disappear a few weeks later, along with incredible susceptibility to developing said lumps even from minor, trifling impacts to the head;

– beginning at age 25 months – a marble sized nodule on the back of her neck, which, after a few weeks, started to grow and spread downward across the whole back of her neck; and

– noticeable at birth, the aforementioned unusual great toes, accompanied by thumbs clasped tightly into her palms.

The finished product. Very glamorous.

The FOP toesies, on a girl age 12

That April 19, we learned that Miranda had FOP, an exceptionally rare condition with a prevalence of roughly 1 in 2 million people. We found out that all the above-noted symptoms are exactly characteristic of FOP. Specifically, a person with FOP is born with a partially fused spine, deformed great toes, and at some point in childhood (usually the toddler years, though it can be even up to age 18), begins developing soft tissue lumps in which pieces of muscle, ligament, or tendon are destroyed and replaced by bone. Over time, new FOP bone locks the skeletal joints and limits movement, causing progressive disability. Flare-ups of FOP can occur seemingly at random – though scientists now believe there is an immune system “switch” which modulates flare-up activity – or as a result of even fairly minor soft tissue trauma, anything from a fall on the floor, to intramuscular immunization, to surgery. Bone development starts along the skull, spine, and shoulders, and later moves down the arms and into the legs. At age 12, my daughter Miranda has had typical progression, in that her spine is rigid, her shoulders, right elbow, left knee, and left ankle are all locked, and her left elbow and right knee are partially restricted.

Needless to say, this is all terrible. FOP exacts a devastating toll on a person’s life, with the affected person losing physical abilities overnight due to the pain and swelling of new flare-ups. Trust me when I say that you don’t want to wish this on anyone.

Fortunately, as I mentioned, FOP is very rare. Nevertheless, for those affected, knowledge of the condition is absolutely VITAL. If you know you have the condition you can take steps to avoid traumas and delay progression of bone development. Maybe you can even delay it long enough to benefit from one of the drugs being currently developed to treat FOP (believe me, we are so, so waiting for the day when a medicine ill stop FOP progression).

What do I want you to take from this opus? Please keep in mind a couple of words I mentioned in the title to this post – tumours and toes. Those two symptoms go together in FOP. OK, they’re not actual tumours, but FOP flare-ups are often mistaken for tumours and misdiagnosed as cancer (leading to unnecessary and harmful treatment for cancer, treatment which can itself exacerbate FOP). If you encounter a child with a strange lump or bump along with deformed great toes – the combination of these two things together is key – please think of FOP, and recommend strongly that the child be referred for an assessment by a medical geneticist.

There you have it! Now you know all about FOP. Who knows, maybe someday you’ll help a child with FOP get the right diagnosis…

 

PS – Anonymous donors have agreed to match all donations made to the International FOP Association, dollar for dollar, up to $21,000! Please consider donating to the IFOPA at www.ifopa.org.

 

 

 

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