Gene Research Offers Hope for Sona

Work supports potential therapy for fatal bone disorder

Dressed in a blue fairy costume, 7-year-old Sona Brinkman dances around, offering no immediate hint that something’s wrong. Not even subtle cues, like the stiffness in her neck or the way she never lifts her arms above her head, suggest the serious nature of her condition.

Since age 5, Sona’s battled fibrodysplasia ossificans progressiva (FOP), a rare yet deadly genetic disorder that turns muscle, tendons and ligaments into bone. She recently had to give up gymnastics, because any injury—even the simple bumps and bruises of childhood—can spur abnormal bone growth.

FOP, commonly called “Stone Man Syndrome,” begins in childhood and over time builds a “second skeleton” that eventually locks a person in a prison of bone. More than a third of the 800 confirmed cases worldwide are patients in the United States[i].

Few doctors recognize the early signs of the disease, which include short, inwardly bent “big” toes and small lumps on the scalp, neck or back that appear in infancy and early childhood. In fact, it’s often misdiagnosed as cancer.

No one thought anything of the periodic small bumps on Sona’s scalp, but when a large lump persisted on her spine, she underwent a biopsy to rule out a tumor. Shortly afterward, her back and shoulders were covered in extra bone.

“We later learned it was an FOP flare-up, which is when the disease activates and the body begins the process of inappropriate bone formation,” says Sona’s father, Kyle Brinkman. “The surgery likely caused the flare-up, because biopsies are something you shouldn’t do with FOP, but we didn’t know that at the time.”

Such suffering can be avoided with a simple genetic test (see “Diagnosing FOP”). It’s a fact that Kyle Brinkman and Sona’s mom, Aarti Brinkman, MD, a family practitioner, hope to share with other parents and the medical community…

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Published on OIC’s website