Diagnosis and Symptoms
1. What are the signs that a child has FOP?
The first sign is usually that the child is born with malformed great (big) toes. The toes angle inward, and it often appears there's a bunion on the side of the bottom toe joint. The great toe is actually missing the last joint before the end of the toe. Some children also have shorter thumbs than usual, and may also have reduced range of motion in their necks. Otherwise, nothing may appear to be out of the ordinary until the child begins having swellings in the muscles, tendons and ligaments, usually beginning in the upper body (head, neck, shoulders or back). Some of the tissue within the swelling is progressively converted to bone. These swellings, referred to as “flare-ups”, usually begin in early childhood, but may not appear until even age 17 or 18. Bone caused by FOP flare-ups eventually locks the joints in place and causes disability.
2. What causes FOP flare-ups?
Some flare-ups are spontaneous, with no recognized cause. Other flare-ups, however, result from trauma to the soft tissues of the musculoskeletal system. Intramuscular injections must be avoided. Even relatively minor trauma can cause FOP flare-ups, which means that people with FOP have to take care to avoid bumps, impacts and falls. Flare-ups can also result from infection with influenza, which suggests that the immune system plays a role in FOP.
3. What causes FOP itself?
FOP is not contagious, and you can't have it unless you're born with it. FOP is caused by the spontaneous mutation of a single gene involved in skeletal formation. The mutation is carried on either the egg or sperm cell contributed by one of the child's parents, or may occur just after conception. In most cases FOP and the mutation occurs randomly and spontaneously; however, a very small number of people in the world have FOP because they were born to a parent who has FOP. An adult with FOP has a 50% chance of passing on FOP if he or she becomes the parent of a child. Not many people with FOP become parents.
4. How many people in the world have FOP?
Worldwide there are estimated to be about 3000 cases, as the prevalence in the developed world is about 1 in 2 million people. However, the International FOP Association and scientists studying the disorder are actually aware of only about 700 people with FOP.
5. Is there any cure or treatment for FOP?
There is no cure for FOP, and treatment is very limited. Sometimes, high doses of steroid medication may stop a flare-up shortly after it begins, but this effect is inconsistent. Since the FOP mutation was announced in 2006, researchers have been working on medications to target FOP at the genetic level.
6. Can a person with FOP have surgery to remove bone caused by FOP?
Surgery to remove FOP bone is not recommended, because surgery involves a form of trauma to the tissues involved. Such trauma often causes explosive new bone formation, possibly in excess of the amount of bone removed by the surgery.
7. What's the life expectancy for someone with FOP?
The median age of death for people with FOP is about 41 years. This means that half the people with FOP die before age 41, and half die after age 41. There are people with FOP in their 50s, 60s and 70s. There have been some cases of people with FOP living into their 80s.
8. Can a child with FOP go to school?
Yes. Most children with FOP go to regular schools. Some attend school with a personal aide to help them make it safely through the day, while other children do not have such an aide. Whether or not a particular child needs an aide depends on the degree of disability FOP causes in the child, as well as the “comfort level” which the child and his or her family feel in respect of the child's safety in the school environment.
9. Can a person with FOP do sports or other physical activities?
Yes. However, people with FOP usually pick their activities carefully, and try to avoid those which pose a higher risk of injury. In addition, people with FOP might participate in some activities in a modified way, such as by wearing extra padding for some sports, or by riding a bicycle adapted for more stability.
10. Does FOP affect the brain?
No. In fact, because FOP poses physical risks, many people with FOP focus on academics and computer related activities. Some people with FOP have earned advanced university degrees, and some are employed in positions of high responsibility.