By: Anjana Mariappan
A 10-year-old Pakistani boy walked into a clinic in severe pain. He had painful lumps on his back and stiffness in his neck, shoulders, and left hip. The immediate decision to give this boy surgery backfired, resulting in the growth of his bones in abnormal places, known as heterotropic ossification. The pain this boy went through was immense, when it could’ve been nulled down with proper treatment.
This boy has the rare disease called Fibrodysplasia Ossificans Progressiva (FOP), or Stoneman Syndrome.
This is a disease where bones gradually replace muscles and connective tissue, so when injuries or illnesses occur, it causes more bone growth.
- Note: these are normal bones, but they grow in the wrong places (ligaments, muscles) and it can feel like you’re frozen and can’t move!
The daily life of a child with Stoneman Syndrome involves a struggle with movement, as there’s stiffness in the body. Some body parts are simply stuck in place, caused by the bone growth, and cannot move. It’s hard to know exactly when bones will grow.
Stoneman Syndrome is genetic, caused by a mutation in the ACVR1 gene, so it makes its appearance at a young age. It is autosomal dominant, meaning that it’s a strong trait in genetics, can be passed to any gender, and if a parent has it, it will most likely be passed to offsprings.
Symptoms include:
- Born with the biggest toe being abnormally large or bent
- Painful lumps all over the body
- Hearing and hair loss
- Breathing and chewing problems
- Trouble with body movements
- Swelling after injuries
Because bones grow after injuries, they tend to heal without treatment.
There is no cure for Stoneman Syndrome, though there is a treatment through medicine that’s taken to help with the symptoms. There’s no way to prevent it, as it’s genetic, but it is recommended to avoid injuries and swelling that lead to the lumps.
While this disease is supposed to spread dominantly through genetics, many of the people who suffer from Stoneman Syndrome, on average, die in their 40s, cutting reproductive rates for this disease. Those who are plagued with this horrible sickness need to be assisted, at least, for as long as they live.
Of the Stoneman Syndrome cases, just like the Pakistani boy, many are misdiagnosed. To be more specific, procedures like a biopsy (collecting samples of affected tissue) can lead to “flare-ups,” which are spontaneous swellings. This will only lead to amplified effects of the symptoms, causing even more severe pain.
When the 10-year-old Pakistani boy walked in, his parents didn’t know much about Stoneman Syndrome. There was no sign of this disease in the parents, and no family history of disease either. This highlights the spontaneity of Stoneman Syndrome, and shows why it’s not well known. With the many misdiagnosed cases, the awareness that needs to be spread of Stoneman Syndrome cannot be stressed enough. While treatments such as Sonohos and medicine like Garestosmab are being developed, those trapped in this skeleton should be cared for, and their pain should be as limited as possible. In the future, cases like the 10-year-old boy that lead to flare-ups and enhanced injuries, can be avoided with more knowledge spread on Stoneman Syndrome.
