Fibrodysplasia Ossificans Progressiva (FOP): One Individual's Experience With the Disease

Having a disease that slowly turns your muscle and tissue into bone sounds like something straight out of a nightmare, but for one individual in Missouri, it's a reality.

Carli Henrotay can't raise their arms above their head, bend at the waist, or stand on two legs because bone growth has caused their joints to lock. More bone will grow as time goes on, and there's, unfortunately, no cure.

Receiving the Diagnosis

When Henrotay was about 5 years old, they fell off a stool and injured their back. But unlike most 5-year-olds, their body wasn't quick to heal itself. According to the Daily Mail, Henrotay was extremely swollen, and healthcare providers were stumped by Henrotay's symptoms.

One healthcare provider, however, had seen a case like this before. The provider asked to see Henrotay's toes, and their suspicions were quickly confirmed. Henrotay's big toes were much shorter than the rest, a tell-tale sign of fibrodysplasia ossificans progressiva (FOP).

About FOB

As of 2022, only about 900 people worldwide are known to have FOP, according to the International FOP Association. A gene mutation causes it, and symptoms usually become noticeable in early childhood.

Trauma, such as a fall, invasive medical procedure, or viral illness, may trigger muscle swelling and inflammation episodes. These flareups can last several days to months and often result in permanent bone growth in the injured area. This is what happened to Henrotay when they were 5.

"The first thing to go was my back. Over time it has turned into a sheet of bone," Henrotay told the Daily Mail. Bone has now grown in many other parts of their body, as well. "My jaw is locked and I have less than two millimeters of opening," Henrotay said, "so it makes it harder for me to eat or talk and project my voice."

Surgery to remove the new bone isn't possible because the trauma would only cause more growth, but Henrotay has hoped that there will one day be a treatment for FOP.

Prognosis

More bone will grow throughout Henrotay's body over time, likely restricting mobility even further, but Henrotay's family encourages them to live as full of a life as possible. Henrotay purchased a house with their partner and is learning how to live independently. "I am excited to get in my new home and see where my independence can take me," Henrotay said, "but it also is a double-edged sword because I know it will hinder me, as well."

Though Henrotay's condition does limit them, Henrotay hasn't let it define them. "I want people to understand that disability isn't the whole part of me even though you can see it," Henrotay said. "You need to see more than the wheelchair and just see me as a person before you judge me for the disability."