A four-year-old girl will be spending her first holiday season at home with her family on Newfoundland's west coast thanks to a discovery made by doctors at the Hospital for Sick Children in Toronto.
Brygette Park was born with a unique mutated gene that causes inflammatory bowel disease. Ever since she was born, Park has been in and out of SickKids hospital.
Dr. Aleixo Muise, a gastroenterologist, met the little girl when she was first sent to SickKids.
"She couldn't walk, she had very bad skin disease. Any time she had infections, she had a very difficult time coping with infection. Any time she had a cut, her wounds wouldn't heal properly," he said.
"For Brygette, her quality of life was not very good at that time."
Even though she was tested and retested, doctors were unable to figure out what was wrong with Park.
"They did some biopsies, thymic biopsies, different genetic testing, trying to find out if there was an immune deficiency," said the girl's mother, Penny Lambert.
"Everything was negative, so they were a bit stumped."
But then doctors had a major breakthrough in Park's case.
"Just before her second birthday, there was a new discovery — a genetic mutation — and the doctors at the Hospital for Sick Children sequenced her DNA, and she was one of the first with this mutation — Interleukin," said Lambert.
Once doctors made the discovery about the mutation in the Interleukin-10 receptor gene, they were able to start helping Park.
"This gene is really the off switch for inflammation, so any time she had an infection, her gut became inflamed. The inflammation would start, and there would be no way for the body to turn off this inflammation," said Dr. Muise.
The solution that was offered to help Park was a risky bone marrow transplant, with no guarantee that it would work.
Lambert said she and her husband Trevor Park felt like there was no alternative.
"Watching her suffer all the time and knowing that maybe she could possibly live a normal life — it almost was not even a decision. We just knew it had to be done," she said.
Park, who underwent the transplant in 2010, is recovering well from her surgery.
"I think its been a great success," said Dr. Muise. "Brygette is now a happy four year old in junior kindergarten. You would never know that she had any form of inflammatory bowel disease or any other disease."
Park spent this past summer at home in Gillams, swimming and playing with her dog Bowser.
Her mother said this Christmas is a very special one for the family.
"This is the first time since Brygette's been born, the very first year, that we've had our own home and we are in Newfoundland with all of our family, so we are pretty excited. Everybody is here," she said.