8/8/2019 Trapped in her bones, A13, National Post, Jan. 13, 2006

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A13NATIONAL POST, FRIDAY, JANUARY 13, 2006

BODY&HEALTH

BYMELIS SA LEONG

Brianne LaChance doesntfear much. The 10-year-oldmarches through a woodedarea in darkness and listsher fears. Her brother.

Maybe Chucky, the fictional killer doll.And apple turnovers, she jokes.

I hate apple turnovers, she says. Sheemerges from the bushes onto a cul-de-sac where she lives in southwestern On-tario cottage country.

Her mother, Karen LaChance, followsclose behind, repeatedly telling her to becareful, afraid Brianne might fall orbump herself. Even the slightest injury isperilous.

Briannes body is becoming trapped inbone. She cant raise her arms higher thanher shoulders because bones have grownacross her shoulder blades. She has re-stricted movement in her neck and mustcompletely turn around to see behind her.Her back is covered with hard golf ball-sized lumps, more bone growth. And anyinjury, a sprain, a bruise, can lead to newbone formation.

She has fibrodysplasia ossificans pro-gressive, or FOP, a rare genetic disease inwhich sufferers get imprisoned in a sec-ond skeleton. A joint can lock overnight.Sufferers can become trapped in a stand-ing position forever.

Theres no other condition where onenormal tissue turns into another normaltissue. Our brain doesnt turn into liver,says Dr. Fred Kaplan, one of the few ex-perts on FOP. But here, soft connectivetissues and muscle turn into bone.

As the director of the Center for Re-search in FOP and Related Disorders atthe University of Pennsylvania School ofMedicine, he tries to keep in contactwith FOP sufferers around the world.

No cure exists and any attempt to re-move the extra bone surgically triggersan explosion of new growth.

Brianne says matter-of-factly: I usual-ly tell people that I have FOP. Its where

the bones grow in the tissues and mus-cles. If they dont understand that, I say, Icant be bumped, I cant be hit. If I get hitin the joints, itll stay like that forever.

She holds her arm crookedly in frontof her to demonstrate.

Then she sits on her blue electricscooter and zooms down the street.

Brianne, be careful! her mother yellsafter her. Shes showing off.

I shouldve gotten the one with the tur-bochargers on it, Briannes father, DavidLaChance, says.

No! says her mother.The LaChances including Briannes

older sister, Alyssa, 11, and brother,Michael, 13 live in a two-storey brick

home hugged by towering pine, oak andmaple trees, in Grand Bend, about anhour outside London, where Briannewas born on April 25, 1995.

Her mother first noticed a lump onher youngest daughters back when shewas three. All of a sudden you see thistumour and you think the worst.

Brianne went for blood tests and bonescans; the pediatricians did not knowwhat was wrong.

Then, an orthopaedic surgeon re-viewed the scans and noticed some bonegrowth in her inner thigh. He deducedthat it was from when she was immu-nized and suspected she might haveFOP. She was also born with malformedbig toes, another indicator of the illness.

A geneticist confirmed the diagnosis.Mrs. LaChance remembers: It was

like a depression. How are we going todeal with this?Why me? Why her?I dont

want to see her go through all the pain. Ijust didnt want to deal with it.

Mr. LaChance, 47, adds simply: Lifegoes on. You accept it after a while.

I want to be a shark with two sets ofteeth, says Brianne, who is playing withher cat and only half-listening to herparents talk about her illness.

Researchers know of fewer than 600people worldwide including about adozen in Canada who have FOP, saysDr. Kaplan, who has dedicated his life tosolving the riddle of the mysterious dis-ease. About 20 scientists in his Pennsyl-vania laboratory are working to identifythe mutant gene that sentences the per-son to a future as a living statue.

You have a terrible metamorphosis.Its as if youre crossing all lanes of devel-opmental traffic here in a forbidden waypermitted only by this mysterious muta-tion that has not been discovered, Dr. Ka-plan says from his office in Philadelphia.

FOP is not fatal but patients often dieyoung, starving after their jaws freezeshut or suffocating after bones constricttheir lungs. Many die from heart failure,exhausting the muscle because its had topump harder against increased pressure.

Once someone has FOP, they have a50-50 chance of passing it on to the nextgeneration. Most people with FOP are sodisabled by the time they reach repro-ductive age that most do not marry andeven fewer have children.

Dr. Kaplan, an orthopaedist, saw hisfirst case of FOP in 1990 a baby with abumpy body, swellings the size of or-anges and grapefruits.

I had never seen anything quite sostark and dramatic and devastating inthe entire field of orthopaedics. I real-ized not a single soul was taking care ofthem or knew what to do about it.

The extra bones grow in the same or-der that they are first formed in the fetus from the head, shoulders, arms, downto the legs.

Dr. Kaplan observed that in cases ofinjury, the white blood cells that floodan area to repair the muscle seem to at-tack it instead, leavingbehind a scaffoldof connective tissue. In this space,painful nodules form. The nodules be-come cartilage, then the area is filledwith bone.

Because FOP is so rare, Dr. Kaplansays the disease is often misdiagnosed with painful consequences.

For example, doctors performed a biopsy on nine-year-old Ian Brodiesswelling neck after noticing a protrud-ing, reddish lump the size of a peachseed behind his shoulder. It wasnt can-cer, as they had feared, but the proce-dure worsened the Sault Ste. Marie, Ont.,boys condition.

Today, at the age of 18, Mr. Brodie iscompletely rigid from his neck to hiswaist. His left arm is locked to his side.He limps because when he was young,he stepped on a nail and now has bonegrowth on the sole of his foot. The 6-foot-3, thin young man is taking an auto-motive program at the Sault College ofApplied Arts & Technology. He loves toswim, bowl and dance.

He met the LaChances at a four -day

FOP symposium in Philadelphia in2000. About 400 people families andchildren withFOP were able to meeteach other and leading specialists.

Mrs. LaChance remembers: It wasscary to me. That was the first time wehad ever seen people with FOP and Ithought, Oh my God. Thats how shes go-ing to end up.

There were girls in wheelchairs whowere upright because their bodies wererigid, because they couldnt sit. Theycould only stand up or lie down. To me,that was freaky.

Mr. LaChance says: I could never pic-ture Brianne looking like those people. Itwasnt scary. They acted like other kids.

He found solace in speaking to other fa-thers and being able to meet Dr. Kaplan

for the first time. I felt really good know-ing someone cared about the disease.

A year ago, Brianne woke up with herleg stiff and stuck in a bent position.Thats when all panic set in, Mrs.LaChance says. They gave her steroids torestrict blood flow to the area reduc-ing the amount of white blood cells rush-ing to her leg. It may have preventedthe lock-up from occurring.

Mr. Lachance says: We cant reallyplan for this stuff. It will happen eventu-ally. We just dont know when.

Unpredictability is in the nature of thebeast. Most people with FOP develop ex-tra bones by the age of five, but re-searchers dont know the reason why theage of onset varies from person to person.

Valerie Herce, an 18-year-old studentat Seneca College of Applied Arts andTechnology in Toronto, found out shehad FOP only three years ago.

She says she tries not to get her hopesup but dreams researchers will find acure, or at least the turn-off button thatwill stop the body from producing rene-gade bones. If they find the killerswitch, it would enable us to get surgeryto remove the extra bone.

Ms. Herce cant fully turn her neck,and bones have grown over the joints inher shoulder, restricting arm move-ment. But the independent youngwoman still drives a Mazda3 Sport witha wider rear-view mirror to cover herblind spots.

When you have to cope with a lot ofproblems, you can either sink or swim,she says. Yes, you cant reach for a cupbut why beat yourself up over it? Find away to do it.

She said she doesnt open up to manypeople about her illness but acknowl-edges that she might be more comfort-able speaking about it if she were talkingto a fellow sufferer. But they are so few,maybe three in Ontario, she says.

Mrs. LaChance says Brianne seldommentions FOP. Shes talked about the

fact that when shes older, she canthave babies. Her sister says shell haveone for her.

On a neighbours trampoline, Briannebounces and claps her hands. Jump,clap. Jump, clap, clap.

I dont like watching you do this,Mrs. LaChance says, her arms crossed.

Youre getting pretty good at it, eh?Mr. LaChance says.

We told Brianne that she was a spe-cial girl and she has to watch herself. Wedont want to create the girl-in-the-bub-ble syndrome like she is a china doll.

Weve got to let her live.National Post

mleong@nationalpost.com

TYLER ANDERSON / NATIONAL POST

Brianne LaChance, 10, of Grand Bend, suffers from fibrodysplasia ossificans progressive, or FOP, a rare genetic disease where bones grow in tissues and muscles. There are only about a dozen people in Canada with FOP.

Trapped in her bonesBrianne LaChance has a rare disease that leaves sufferers imprisoned in a second skeleton

TYLER ANDERSON / NATIONAL POST

Brianne LaChances mother first noticed a lump on her youngest daughters back when the girl was three years old.

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