Boy with mystery broken bones has gene abnormality linked to pain insensitivity
VANCOUVER — A British Columbia boy who was seized twice by the Children’s Ministry due to his mysterious broken bones has been found to have a rare gene abnormality linked to a condition that blocks all feelings of pain.
The five-year-old boy was returned to his parents last fall after doctors determined his unexplained fractures were not caused by abuse. Now, geneticists have found a variant in a gene linked to congenital insensitivity to pain, a disorder that can cause repeated broken bones.
Doctors have clinically diagnosed him with the condition based on his symptoms, and are still working to confirm a medical diagnosis through genetic testing. It’s bittersweet news for his parents, who are relieved to finally have answers but fear the challenges ahead.
“It’s been pretty emotional just thinking about his future, knowing that he may not be able to play sports or do any physical activity like that,” said his mother. “I think he’s going to have a hard time with that because he’s so active.”