What Is Stone Man Syndrome? A Woman Who Lives With the Condition Explains
This 23-year-old's muscles are slowly turning into solid bone.
Having a disease that slowly turns your muscle and tissue into bone sounds like something straight out of your worst nightmare, but for one 23-year-old woman in Missouri, it's a reality.
Carli Henrotay can't raise her arms above her head, bend at the waist, or stand on two legs because bone growth has caused her joints to lock. More bone will grow as time goes on, and there's unfortunately no cure.
When Henrotay was about 5 years old, she fell off a stool and injured her back. But unlike most 5-year-olds, her body wasn't quick to heal itself. She was extremely swollen, and doctors were stumped by her symptoms, according to the Daily Mail.
One doctor, however, had seen a case like this before. He asked to see Henrotay's toes, and his suspicions were quickly confirmed. Her big toes were much shorter than the rest, a tell-tale sign of fibrodysplasia ossificans progressiva (FOP).
Only about 800 people worldwide are known to have FOP, according to the Genetic and Rare Diseases Information Center. It's caused by a gene mutation, and symptoms usually become noticeable in early childhood.
Trauma, such as a fall, invasive medical procedure, or viral illness may trigger episodes of muscle swelling and inflammation. These flareups can last anywhere from several days to months and often result in permanent bone growth in the injured area, which is what happened to Henrotay when she was 5.
"The first thing to go was my back. Over time it has turned into a sheet of bone," she told the Daily Mail. Bone has now grown in many other parts of her body, as well. "My jaw is locked and I have less than two millimeters of opening," she 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 hope that there will one day be a treatment for FOP.
More bone will grow throughout Henrotay's body over time, likely restricting her mobility even further, but her family encourages her to live as full of a life as possible. She recently bought a house with her partner of six years and is looking forward to learning how to live on her own. "I am excited to get in my new home and see where my independence can take me," she said, "but it also is a double-edged sword because I know it will hinder me, as well."
Though Henrotay's condition does limit her, she hasn't let it define her. "I want people to understand that disability isn't the whole part of me even though you can see it," she said. "You need to see more than the wheel chair and just see me as a person before you judge me for the disability."