I have a wonderful daughter. She’s smart as a whip, funny and full of life. She also has a rare genetic disorder which makes it impossible for her to bend her back, turn her head or reach out her arms for a hug. My daughter Miranda has Fibrodysplasia Ossificans Progressiva (FOP). FOP is an extremely challenging and unusual disorder. It causes painful swellings in which normal muscle, ligament or tendon tissue becomes converted to bone. Yes, you read that correctly – bone. A person with FOP develops a “second skeleton” which locks the joints of her or his regular skeleton and inhibits movement. Only 1 in about 2 million people is born with FOP.

Miranda’s early experience with FOP was similar to that of other FOP patients. At her birth in 2005, the only thing which seemed amiss was that my new baby had a strange toe deformity. The great toes of people with FOP are usually rigid at the first joint back from the tip of the toe, and there is a “bunion-like” protrusion on the joint at the ball of the foot. The great toes are also often angled inward toward the other toes, which was the case for Miranda. Of course, as FOP is so rare, no-one recognized at first the significance of these unusual toes. Other than that issue, Miranda’s first year and a half of life were pretty normal, and we were blissfully unaware of the FOP monster lurking in her DNA.When Miranda was 18 months old, FOP symptoms first appeared. It began with a bump on her forehead which swelled to huge and alarming proportions, and then gradually disappeared over a couple of weeks. This strange pattern repeated itself every 2 to 3 months thereafter. Over the next 10 months, Miranda was subjected to all sorts of medical investigations, but no cause for the extreme reactions was found. And then, one of those swellings appeared on my daughter’s neck. Shortly thereafter, with the swelling raging and screaming its way across Miranda’s shoulders and down her back, my 2 year old was diagnosed with FOP by a medical geneticist. My little girl then had flare-ups continuously for several months, resulting in almost complete fusion of her spine, shoulders and right elbow, and partial fusion of her left elbow.

Unlike many with FOP, Miranda was never misdiagnosed (only undiagnosed). Up to 90% of people with FOP are wrongly treated for various other diseases, including cancer. Incorrect treatments can be disastrous, as patients are often subjected to biopsies and surgeries, and those procedures can cause a worsening of FOP – flare-ups are often triggered by traumas (surgery causes trauma to tissues). Despite FOP, Miranda has a terrific and full life. She is 9 years old as I write this in 2014, and FOP doesn’t stop her from going to school, playing the piano, participating in Girl Guides, swimming, and singing in a choir. My daughter just needs to do some of these things a bit differently, and to have a little more adult supervision than would typically be expected for a school aged child… But all of that said, our family’s greatest hope is that researchers will one day develop a cure or treatment for FOP. Nothing would be sweeter than to wrestle FOP under control.

Karen Munro is a volunteer with the International FOP Association, a USA-based charity which provides support and information to people with FOP and their families and also raises funds for FOP research. For more information about FOP, go to www.ifopa.org.

X