Brygette Park was repeatedly hospitalized in the first two years of her life with severe vomiting, diarrhea, chronic fevers and blood and mucus in her stool. She had also developed rheumatoid arthritis in her hips, knees and wrists.
Aleixo Muise, a gastroenterologist at the Hospital for Sick Children in Toronto, said doctors discovered a unique mutated gene that was causing constant inflammation in Brygette's gastrointestinal tract.
Only 20 people in the world are known to have the mutation, Muise said.
After identifying the cause, Brygette had a shot at a cure: a bone marrow transplant.
"They told us that they could probably save her life," said Penny Lambert, Brygette's mother. "It was a high risk, but we had to take it because it was our only option."
Doctors performed the transplant in July 2010 and after several months of close observation, Brygette was released from the hospital.
"Since that time she's done very well," said Muise. "Her bowel system has completely healed, she has no more infections, she's growing normally and she's basically a normal kindergarten student."
Lambert said the four-year-old girl, who will turn five on Dec. 21, is now symptom-free and enjoys riding bikes, swimming and playing with other children.
"She never interacted with children before so kindergarten is just out of this world for her," Lambert said.
About five months ago, Brygette's family moved to the town of Gillams in western Newfoundland from Barrie, Ont. They are looking forward to spending their first Christmas as a family at home together after always staying with family and friends since Brygette was born, said Lambert.
"We lost our home, our vehicles — everything but Brygette," Lambert said. "We were staying with family constantly. All our things were in storage.
"We just got our own home again and we're back in Newfoundland with family so it's pretty spectacular. ... To be with her family and grandparents, it's going to be a wonderful Christmas."
Brygette's case sparked the National Early Onset Pediatric IBD Cohort Study, an international research group that looks at young children with inflammatory bowel disease and developing new treatments, said Muise.
Muise said understanding Brygette's case will help researchers understand and develop cures for all types of inflammatory bowel disease.
— By Aly Thomson in Halifax