Building a good life in a body slowly turning to bone

Kathleen's story was included in Canada’s Rare Voices 2023.

_“I live on a remote farm in northwestern Saskatchewan with my parents, 200 head of cattle, and a little bit of grain. I’ve lived here all my life. It’s beautiful and quiet. There are plenty of lakes close by and so much wildlife all around. Within these serene surroundings, parts of my body are slowly turning to bone.

I’m 29 years old and I’m the only person in the whole province with fibrodysplasia ossificans progressiva (FOP). My right arm went first. New bone formed in the muscles of my shoulder and then my elbow, eventually fusing the joints together and completely immobilizing them. Then I lost movement in my neck. My legs became heavy with bone; one has grown longer than the other, and I’m unable to bend my knees. I walk with a cane when I’m not in a wheelchair. Now I’m starting to lose movement in my left arm, too. Every year, I lose a little bit more. Just when I start to get used to my new normal, figuring out ways to navigate my life with newly-reduced mobility, something else happens and the cycle begins all over again.

The fact that I used to be able to do so much is one of the hardest things. I was largely able to have a normal childhood. I was able to ride our horse, run around with my siblings, and toboggan behind the quad bike. Then, when I hit puberty, my FOP went absolutely haywire. It was flare-up after flare-up with progressive loss of mobility each time. It’s so tough as a teenager, when you’re finally ready to be more independent and to start doing more on your own, to instead find yourself going backwards. Suddenly you can’t comb your own hair. You can’t dress yourself. You want to have a regular life like everyone else — to go off to university and to have a career, a wedding, and children. But you know that’s never going to happen.

"Then, when I hit puberty, my FOP went absolutely haywire. It was flare-up after flare-up with progressive loss of mobility each time."

I’ve known what my life was going to look like from a young age. I was diagnosed when I was four years old. Looking back, the telltale signs were there well before — malformed big toes and a lump of bone on my leg — but my pediatrician wasn’t initially concerned. This is an ultra-rare disease and most doctors know very little about it, if they’ve heard of it at all. My doctor actually had to send a letter, a physical letter, down to a specialist in Philadelphia to confirm the diagnosis.

Things are getting a little better now. There are a few very knowledgeable specialists in Canada today, and research and interest in the disease have really picked up since 2006, when the gene responsible for FOP was discovered. But still, there are so few of us, and this is such a big country, and we all need effective treatments yesterday, not tomorrow.

One thing that’s been really positive with the growth of the internet is the ability to stay connected with other FOP patients and with the world at large. There’s a Canadian FOP Facebook group, and an international one, where we communicate with each other. And I was able to pursue my higher education online. For the past 9 years I’ve worked as a medical transcriptionist from home.

In many ways, I’ve been able to build a life that I can enjoy. I work and I spend time with my family, especially my nieces and nephews. I do the things that bring me joy, like crocheting and quad riding, while I still can. I know that however bad things get, they could be so much worse. So I’m doing what I can to enjoy the one life I have."

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‍This content was supported by Ipsen Biopharmaceuticals Canada Inc. This page was developed by Patient Voice, and the supporter did not influence the final article or editorial themes of this content.