Due to its rarity, FOP is commonly misdiagnosed, with many doctors and medical professionals never having heard of the condition. Where a diagnosis of FOP is suspected, no further treatments or test should be carried out before seeking expert medical advice.
People with FOP appear normal at birth, except for the tell-tale malformed, turned-in big toes. The big toes may be shortened and/or curl under. The person may also have shorter or turned in thumbs. The toes, combined with unexplained swellings across the body, can be an indicator of FOP.
The swellings are known as flare-ups. These are painful lumps that can appear anywhere across the body. They can be red and inflamed. They can last from a few weeks to a few months. At the very least they cause inconvenience and discomfort; at worst they are excruciatingly painful.
A flare-up can appear spontaneously or after an incident. As the flare-up subsides, new bone growth may have occurred.
The toes are often thought to be bunions or hallux valgus, while the swellings can be misdiagnosed as cancer. Often, patients are subjected to unnecessary and potentially harmful investigative procedures and treatments. Some medical professionals may try to ‘straighten’ or ‘correct’ the toes. Until a diagnosis of FOP is confirmed or disproved through a genetic test, no further treatments should be undertaken. This is critical to reduce the likelihood of FOP fall-out from such procedures in the event that the patient’s diagnosis proves conclusive for FOP.
If you suspect a diagnosis of FOP, do not permit any biopsies of the area and seek expert FOP specialist advice. Due to the rarity of FOP, most GPs and other medical professionals will not have heard of the condition.
For specialist FOP advice contact:
- Dr Richard Keen firstname.lastname@example.org RNOH
- Prof. Fred Kaplan Frederick.Kaplan@uphs.upenn.edu
- Prof. Robert Pignolo Pignolo.email@example.com
Or contact FOP Friends for further guidance.