December 10, 2012
First in Canada: bone marrow transplant cures toddler of IBD
Home for the holidays for the first time since child’s birth
In her first two years of life Brygette Park was hospitalized more than 40 times with severe vomiting, diarrhea, chronic fevers, and blood and mucus in her stool. She also developed rheumatoid arthritis in her hips, knees and wrists. Doctors could not figure out the cause of her inflammatory bowel disease and were running out of treatment options.
Dr. Aleixo Muise, Gastroenterologist and Scientist at The Hospital for Sick Children (SickKids), had been doing research into possible genetic causes of inflammatory bowel disease (IBD) in infants and very young children and suspected that a genetic mutation could be to blame for Brygette’s suffering.
“Brygette had mucus and blood in her stool up to 30 times a day. She was sick and in pain, but being so young, that’s all she knew and she never complained,” says Penny Lambert, Brygette’s mom.
Soon after, Brygette had her DNA sequenced and as Dr. Muise suspected a genetic mutation proved to be the cause of Brygette’s severe case of IBD. She was one of the first cases in the world with this mutation. The mutated gene blocked the ‘off’ switch for inflammation, so there was constant inflammation in Brygette’s gastrointestinal tract.
By identifying the cause, Brygette had a shot at a cure and at only two years old, she was the first in Canada, and one of the first in the world, to be cured of her inflammatory bowel disease thanks to a bone marrow transplant.
Brygette is four years old now and is symptom free. “Our lives have been completely transformed. For three years, I basically lived in the hospital with Brygette, not knowing if she would survive,” says Lambert. “After the bone marrow transplant Brygette started to gain weight and regain her health. She’s now an active, happy, and care-free kindergartener.”
The decision to get a bone marrow transplant was not an easy one. While it would eliminate the IBD, there was a 50 per cent chance that Brygette would not survive the procedure which involved eight days of chemotherapy and the transplant itself.
“When we think of bone marrow transplants, we don’t typically think treatment for IBD. Brygette’s success story is one of the most exciting experiences you can have in clinical medicine. We identified the specific genetic cause of her disease, which led to treatment that cured the disease,” says Dr. Muise.
Brygette’s case led Dr. Muise to create the National Early Onset Pediatric IBD Cohort Study (NEOPICS; www.NEOPICS.org) which is an international research group devoted to discovering all the genes that cause infantile and very early onset IBD, and developing new treatments.
“This offers new hope for other young children with severe cases of IBD as we’re starting to better understand the genetic causes of early onset IBD which could mean individualized therapies focused on the cause rather than just the symptoms.”
Penny and her husband Trevor Park promised each other that if Brygette survived, they would move back to their hometown in Newfoundland. They moved five months ago and are excited to spend Brygette’s first Christmas at home with all of her relatives.
About The Hospital for Sick Children
The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally. Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system. SickKids is proud of its vision of Healthier Children. A Better World.™ For more information, please visit www.sickkids.ca.
About SickKids Centre for Research and Learning
The SickKids Centre for Research and Learning will bring together researchers from different scientific disciplines and a variety of clinical perspectives, to accelerate discoveries, new knowledge and their application to child health — a different concept from traditional research building designs. The facility will physically connect SickKids science, discovery and learning activities to its clinical operations. Designed by award-winning architects Diamond + Schmitt Inc. and HDR Inc. with a goal to achieve LEED® Gold Certification for sustainable design, the Centre will create an architectural landmark as the eastern gateway to Toronto’s Discovery District. The SickKids Centre for Research and Learning is funded by a grant from the Canada Foundation for Innovation, the Government of Ontario, philanthropist Peter Gilgan and community support for the ongoing fundraising campaign. For more information, please visit www.sickkidsfoundation.com/bepartofit.
The Hospital for Sick Children
Phone: 416-813-7654 ext. 1436