Patient Stories: Navigating a chromosomal disorder
July 21, 2022
Soon after she was born, her doctors noticed Josephine LaRoche, of Lexington, South Carolina, had an unusual skin condition and shorter limbs on one side than the other.
Josephine was diagnosed with a type of dwarfism called X-linked chondrodysplasia punctata 2, a chromosomal disorder that requires ongoing care.
Despite her medical needs, including doctor’s visits and surgeries needed to help correct the limb-length differences and other concerns, Josephine doesn’t let any challenges slow her down for long. This little girl keeps up with her older siblings, is strong-willed and determined to fit in and have fun.