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Local child with rare condition set to have surgery in the states this spring

'The doctors had no clue,' says Tina Lachapelle, speaking about her pregnancy with her son Robin, now 6. 'They kept telling me that the baby wasn’t growing and he wouldn’t be compatible with life.'

It’s difficult to guess Robin Fortier’s age just by looking at him. At six years old, Robin stands 28 inches tall. His nine-year-old sister, Tianna, is two feet taller.

Robin’s mother, Tina Lachapelle, says Robin’s height is the least of his problems.

“Robin depends on help all day long,” she says. “His arms are so short he can’t dress himself, toilet himself, or even get himself a snack if hungry.”

“His fingers don’t bend. They’re fused together, so it makes everything a little harder.”

Robin lives with a condition known as diastrophic dysplasia.

According to the National Organization of Rare Disorders (NORD)'s website, diastrophic dysplasia, also known as diastrophic dwarfism, is a congenital disorder often characterized by unusually short stature and limbs, abnormal bone development, and “progressive abnormal curvature of the spine.”

While Robin’s unique condition is easy to see now, it wasn’t so easy to identify during his mother’s pregnancy.

“On my 18-week scan, the baby’s extremities were noticeably smaller than what they should have been,” says Lachapelle. “I went through the whole pregnancy not knowing what was wrong.”

Adding to the stress of not knowing, she says, was the doctors’ insistence that her pregnancy was not viable.

“The doctors had no clue,” says Lachapelle. “They kept telling me that the baby wasn’t growing and he wouldn’t be compatible with life.”

Lachapelle says she and Robin’s father, Robby Fortier, needed a second opinion.

“We got a bunch of tests done in Toronto with no results to make us as the parents believe he would not survive. We kept hoping they were wrong.”

Believing the birth would be complicated, Lachapelle’s doctors sent her to Mount Sinai Hospital in Toronto to give birth.

“Robin was born at Mount Sinai Hospital weighing six pounds, six ounces,” says Lachapelle. “[The doctors] were shocked to see him breathing and not needing any oxygen or help in any way.”

Despite the relatively normal birth, it was clear Robin was different. After a few weeks, the family received Robin’s diagnosis of diastrophic dysplasia.

“Diastrophic dysplasia comes with a lot of issues,” says Lachapelle.

“He was born with club feet so we did a lot of traveling back and fourth to Sick Kids for serial casting. We would have to change his feet position and recast every 2 weeks.”

“He was also born with a soft cleft palate. That was repaired in 2015 at Sick Kids.”

Robin’s treatments haven’t all been successful, however.

“On Jan. 18, Robin was set to have a halo installed on his head,” says Lachapelle. “This procedure was not completed.”

Robin almost died on the table, his mother says.

“Robin was sedated and they started surgery, but a blood vessel was cut causing Robin to lose so much blood it sent him into cardiac arrest. The full surgery plan was aborted.”

Robin’s parents decided to switch Robin’s orthotics care to CHEO hospital in Ottawa.

“CHEO was willing to work with us, and reached out to Dr. Mackenzie in the states who’s been working on so many cases with children with dwarfism,” says Lachapelle.

“The doctors at CHEO are trying to get OHIP to cover the cost to have this procedure done by Dr. Mackenzie who is the world’s leading doctor in diastrophic dysplasia.”

The family is scheduled to be at Nemours Children's Hospital in Delaware this spring for a consultation prior to Robin receiving spinal surgery.

“We’re looking at having to be in the states for up to 90 days,” says Lachapelle.

There’s no guarantee OHIP will pay for the surgery or any of the related travel expenses.

A GoFundMe campaign named Get Robin to Delaware aims to help the family cover those expenses. It has been shared over 400 times and has reached $1125 out of its $50,000 goal.

While they wait, his mother says, Robin is in good spirits.

“Robin doesn’t really let his disability affect him,” says Lachapelle. “Sometimes you get sad and upset because he just can’t do stuff as easy as other kids, but we help him out as much as we can and his sister is always right by his side to help him.”

Anyone who would like to support Robin and his family as they prepare to travel to Delaware are invited to donate via GoFundMe at https://www.gofundme.com/help-get-robin-to-delaware/.