Clara’s parents had no idea what was wrong. In the space of a few minutes, their four-year-old daughter’s hip had swollen up to the size of a watermelon. And nobody at the hospital they took her to had an answer for them either.

Only months later, after they had consulted several medical professionals, was a connection made between the inflammation in Clara’s muscles and an X-ray of her feet. Her big toes were turned inward, a telltale sign of fibrodysplasia ossificans progressiva or FOP – a condition sometimes referred to as stone man syndrome. 

It is a rare genetic disease in which muscles, tendons and ligaments are gradually replaced by bone. It progresses in bouts, causing stiffness in the joints and, slowly but surely, robbing sufferers of mobility and independence. Flare-ups can occur at any time but are particularly severe when triggered by a trauma to the muscles, such as a fall. 

That means that Clara has to be careful to avoid any sudden or jostling motion. It also means that vaccination and any kind of surgery is out of the question, as her muscles would not be able to handle the stress. 

My body won’t stop turning things into bone. It’s building a second skeleton overtop the one I already have, and holding the old one prisoner.

Clara, 14

Clara Et Lucie
© Dominic Gouin - Clara with her mom, Lucie, at the CRME

When Clara’s parents got the diagnosis, they were in the middle of signing her up for kindergarten. They had to put everything on hold – not the least of which was the heartache, the frustration and the sense of dread they felt – to take her to visit various specialists. Their first request was for Clara to be seen at the Marie Enfant Rehabilitation Centre (CRME), a leading pediatric habitation facility, which just happened to be near their home. 

They took us under their wing at the CRME and gave us help with everything, from coordinating with the school to psychological counselling. All the expertise is there. They used to dealing with all kinds of restriction.

Lucie, Clara's mom

With the help of CRME staff, Clara’s parents set everything up so there were as few limitations as possible. They had no intention of keeping her in a bubble. They readily took all the required precautions to ensure she had a normal social life, knowing how important it was to her development.

For almost 10 years now, Clara has been seen weekly – sometimes more often, sometimes less, depending on the level of inflammation – at the CRME. The treatment she receives has been designed to suit her particular needs and maintain her mobility. 

Aquatic therapy, for example, helps reduce the ever-present risk of falls that comes with a conventional room. The pool helps in exercising her legs. New innovations like the GRAIL system at the Technology Centre use virtual reality to maximize her mobility in a safe environment. That helps her maintain her balance and gives her a good cardio workout – which is important because she cannot take phys ed classes at school. The risk of injury is simply too great. 

Grail Crme
The GRAIL system, recently acquired by the Technology Centre to help youth followed at CRME maximize their mobility.

With all the wonderful care she received, Clara was able to attend the elementary school in her neighbourhood. A full-time shadow was assigned to her to make sure she was safe at all times. 

Now that she’s in high school, she no longer has a shadow, but there are certain rules she has to follow, like using a scooter to get around the school (even though she can still walk), leaving classes five minutes before the bell to avoid the hustle and bustle in the hallways and avoiding the cafeteria. 

Clara Papillon
Clara, at 7, at Montreal’s Jardin botanique. The monarch butterfly is a symbol of her disease.
Famille Clara
Clara, at 4, with her parents and her little brother at the family cottage.
Clara Dr Kapplan
Dr. Frederick S. Kaplan, the doctor who discovered the gene mutation that causes FOP, with Clara and her brother.
Clara Walt Disney
Clara, at 10, with her family at Walt Disney World in Florida.

But the way Clara puts it, these are only minor hassles, none of which prevent her from enjoying life to the fullest. This year’s she’s in Secondary 3 and enrolled in the international program. She gets excellent grades, despite her many physio and occupational therapy sessions during the week. She has a trusted circle of friends, who know what they can and can’t do around her, but who don’t treat her any differently because of it. And her family is very tight-knit. They live one day at a time and choose not to dwell on the outlook of this disease for which there is currently no treatment. 

What my parents would love is a drug that would cure my FOP and give me back my mobility. But I don’t think that’s very realistic. What I do hope for, though, is for something to stop it from getting worse and a chance to have surgery so I can move around with less trouble.

Clara

The CHU Sainte-Justine Foundation’s Mois des Câlins campaign is on throughout February. The funds raised will go toward the Marie Enfant Rehabilitation Centre at Sainte-Justine. Your support means that young patients like Clara, one of our event ambassadors, can keep developing their motor abilities and self-sufficiency.