Patient Stories

A multisite, international phase 2 trial evaluating the investigational drug garetosmab has shown that it reduced soft-tissue flare-ups significantly and prevented new areas of abnormal bone formation in patients with fibrodysplasia ossificans progressiva (FOP).

Severe symptoms, blood tests and a key PET scan lead to diagnosis. A 26-year-old man with no prior medical symptoms was having trouble walking. He had pain and weakness throughout his body that was getting worse. He’d been diagnosed with a degenerative disk, a hip fracture and psoriatic arthritis, but none of the recommended therapies were working.

Robby Novak has become known to the world as ‘Kid President,’ an online YouTube sensation spreading a message about how people can “make the world more awesome.” In videos, he wears a signature black suit and red tie, looking very presidential. But take away the president from Kid President, and he’s just a typical 9-year-old “kid” – who also happens to have a rare brittle bone disease known as osteogenesis imperfecta (OI). Basically, he breaks easily.

Janelly Martinez-Amador grabbed headlines and hearts around the world three years ago when news spread of her remarkable fight for survival against a rare metabolic disease at Monroe Carell Jr. Children’s Hospital at Vanderbilt.

Kathryn Dahir, M.D., associate professor of Medicine in the Division of Diabetes, Endocrinology and Metabolism, recently received the Maher Family Grant from Soft Bones Inc., an organization dedicated to providing information, education and support to those affected by hypophosphatasia (HPP).

Jill Simmons, M.D., encounters medical mysteries that have the makings of a science fiction film or novel. As a pediatric endocrinologist with a special interest in metabolic bone disorders, she sees patients with rare, severe medical conditions — from a child who as an infant had no visibly detectable bone on an X-ray image due to a condition called hypophosphatasia to children who suffer from a fragile bone disorder, osteogenesis imperfecta (OI), that can leave them with dozens of bone fractures before elementary school.

Vanderbilt recently hosted the National XLH (X-linked hypophosphatemia) Day in the Student Life Center.  More than 200 patients and families attended from around the country. Speakers included Vanderbilt’s Jill Simmons, MD, Kathryn Dahir, MD, and Margaret Maclin, DMD.