Fibrodysplasia Ossificans Progressiva

I wrote about this disease 2 years ago when I first learned of it, attending a lecture by one of the few researchers of this condition. It is a rare disease in which bone forms in the soft tissues of the body and eventually immobilizes the joints. Last week, I met a patient with this disease.

She was in her late teens, bright, outgoing, and engaging. She was, as far as I could tell, a normal high school student. She chatted about classes, friends, future goals, family, hobbies. She made it a point to live her life as normally as anyone else. And yet, her spine was fused, she had nearly no range of motion of one of her arms, her gait was a small shuffle, and her posture was fixed. She openly talked about her disease, acknowledged it as part of her identity, understood that few people had ever heard of it, and loved to share. I really enjoyed talking to her.

I was torn between two different emotions. We all know the prognosis of this disease; there's no cure, no treatment, and eventually bone will consume her life. And yet she was so optimistic, so full of life. She organized fundraisers for this condition, traveled to meet other patients with the disease, pursued big things. Even in the hospital, hope and cheer abound.

The other thing this brought up was the strangeness of Moffitt medicine. As a highly academic tertiary referral center, we see diseases that no one else sees. I love it. In some ways, it's not practical training at all; we get too used to the rare and obscure that we forget what the real world is like. But in other ways, it offers opportunities I can't get elsewhere. Meeting this patient was an extraordinary experience that I have trouble putting into words. Her attitude towards life in spite of her disease, her aspirations in life because of her disease, and her warm personality will inspire me for the rest of my time in medicine.