Spotlight on Rare Disease: Burden of XLH

Imagine being diagnosed with a disease that’s hereditary, progressive and life-long. Canadian families with XLH, a rare inherited disease, face many extraordinary physical and emotional challenges including pain and isolation.

“It wasn’t until I mentioned it to Dr. Khan and she’s like, well we need to get an x-ray, it turned into that I actually had a stress fracture, which I did not believe until I saw the x-ray. The aches and pains, it’s just something like you almost get used to and then when the, your levels get better, and that pain goes away, you realize, wow, I’ve been putting up with all this aches and pain.”

~Crystal Ribiero (XLH Adult Patient)

“The important message that I’d like to give out to Canadians, is that if you’ re not getting the answer, consider the possibility of a rare bone disease and seek appropriate help. And for physicians, to consider referring such patients to an appropriate metabolic bone disease center.”

Dr. Aliya Khan, MD