BEFORE & AFTER: Brygette as a toddler (inset) shortly after her IBD was diagnosed. Four years after treatment, Brygette is now a sassy six year old (above).COURTESY OF PENNY LAMBERTWithin a few days of birth, Brygette Park began having intestinal problems that worsened over the course of two weeks. By the time her parents took her to specialists at the Hospital for Sick Children in Toronto when she was a few months old, she was vomiting and having bloody diarrhea 20 to 30 times a day. Recurring fevers and rheumatoid arthritis plagued her, and she didn’t respond to conventional treatments for inflammatory bowel disease (IBD). Despite countless tests, her doctors were stumped. “I knew it had to be something rare, because they did tests—everything was negative,” says Park’s mother, Penny Lambert. “This is Sick Kids [the top-ranked hospital’s affectionate nickname] in Toronto and they’re stumped.”
IBD affects about 1 in 200 people in the United States and Canada, but most patients don’t develop symptoms until adolescence or adulthood. Pediatric cases tend to be severe and debilitating, but have the potential to jump-start investigations into the genetic causes of all IBD cases.
Just before Park’s second birthday, her doctors learned that recently discovered defects in interleukin-10 receptor genes (IL10RA and IL10RB) are associated with inflammatory bowel disease in very young infants (N Engl J Med, 361:2033-45, 2009). Interleukin-10 normally keeps the body’s immune response from going overboard. Researchers had also found that young IBD sufferers carrying the mutations could be treated with a bone-marrow transplant. Park tested positive for the gene defect, and her parents decided to try the transplant, despite ...
