From One Generation to the Next, Research Offers a World of Opportunity


Those are the words Debbie Moore uses to describe her son Colton who, at 16 months of age, was diagnosed with a deforming bone disorder called X-linked hypophosphatemia (XLH). Both uncommon and painful, XLH causes rickets and osteomalacia, or softening of the bones. 

Patients are typically diagnosed during childhood and have bowed legs, short stature, and experience bone pain and dental abscesses.

Debbie knows firsthand the debilitating effects of XLH. Diagnosed with the disease at 18 months, she spent much of her childhood wearing leg braces. She also underwent several surgeries to remove pieces of bone from her femurs and tibias in an effort to straighten her legs.

 

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