Early Impact – X-Linked Hypophosphatemia (XLH)

Emma’s parents knew something was different with her when she was still a toddler. While other kids ran at daycare, Emma could only walk. She’d wake up in the middle of the night screaming that her legs were in pain. And she had to get a root canal at age 3.

It wasn’t until later that Emma was diagnosed with X-linked hypophosphatemia, or XLH, a rare genetic disorder that weakens an individual’s bones and teeth.

Emma’s mother, Bridget, walks us through the ups and downs of trying to get Emma’s diagnosis, and how it led to her daughter finally getting to enjoy life as a teenager.

This episode also features in-depth commentary from renowned expert Jill Simmons, MD, Professor of Pediatrics, Vanderbilt University School of Medicine.