Early symptoms come in childhood. Misshapen toes, swelling that appears and quickly disappears, and difficult use of joints are red flags. From there, things set about on a downward course. Victims of Stone Man Syndrome continue to grow new bones within their bodies, some of which attach themselves to the original skeleton. Ultimately, the addition of new bone makes it nearly impossible to move.
Fortunately, it’s very rare. Only about one in every 2 million people lives with it. The International Fibrodysplasia Ossificans Progressiva Association is dedicated to informing the public about Stone Man Syndrome. One of the problems with rare diseases is that they are difficult to diagnose, and so people often go without seeking treatment, if anything is available.
Over 500 people with this condition have offered up blood, DNA, and tooth samples. By studying those things, scientists hope to make breakthroughs and change the lives of people who live with FOP for the better.