FOP FAQs

How do you get FOP?

FOP is congenital (occurring before birth) and is caused by a spontaneous mutation of the ACVR1 gene involved in skeletal formation. The gene that causes ossification is normally deactivated after a foetus’ bones are formed in the womb, but in a person with FOP, the gene keeps working. Most cases of FOP are new and have no-one else in the family with the condition. However, a very small number of people in the world with FOP inherited it from a parent with FOP. An adult with FOP has a 50% chance of passing on the disease to their children.

Of the FOP patients identified with a R206H gene mutation, 97% are “classic FOP” with a very small proportion of patients having atypical or variant forms of FOP. While they experience similar symptoms, some of their clinical features are unusual for FOP.

Can the extra bone be removed?

No. Experience has shown that the FOP will be exacerbated with the bone returning and yet more bone being created through the trauma of surgery.

What is the life expectancy for someone with FOP?

There is a wide range of life expectancy with FOP. There have been some cases of people with FOP living into their 80s.

How is the extra bone in FOP different from normal bone?

The extra bone in FOP forms by a progressive transformation of soft tissues into cartilage and bone.  This is the same process by which bone heals after a fracture and is nearly identical to the process where bone forms normally in an embryo.  The abnormality in FOP occurs not in the manner of bone formation, rather in its timing and location.

What is a flare-up and is it painful?

A flare-up occurs when the body starts to generate new bone. Once it begins, tissue swells and brings discomfort. Sometimes patients feel unwell and may develop a low grade fever. While there is no medication that can stop the process of bone formation once it has begun, a physician can prescribe medication to help relieve the pain. Multiple flare-ups may also occur during an active period of FOP. When a flare-up is in progress, joint stiffness may occur overnight. The stiffness comes from swelling and pressure inside the muscle during the earliest stages of new bone formation.

While flare-ups are usually painful, the degree of pain can vary. Most people find that the pain subsides when a flare-up is over; it appears that it is the process of extra bone formation, rather than the extra bone itself, that usually leads to pain.

Will FOP get worse? Does it ever stop or just go away?

Unfortunately, FOP does not improve over time.  The “P” in FOP stands for “Progressiva”.  That means that FOP will progress, or get worse, as a person ages.  As FOP is part of a person’s genetic make-up, people with FOP are born with the condition, even though the extra bone may not have appeared at birth.  So people with FOP will not outgrow the condition.  Nor can the extra bone that has been produced by FOP disappear.  The body of a person with FOP does not make extra bone all the time; a person with FOP may go months or years without a flare-up.  Yet there is always a chance that extra bone can form, either without warning (spontaneous flare-up) or following trauma, such as a bump, fall, muscle overexertion, an injury, intramuscular injection, surgery or even some viruses.  It is unclear why the disease is active some times and dormant at other times.

What parts of the body are affected by FOP? How does FOP affect mobility?

FOP affects the head, neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles, jaw and many areas in between. The progression of ossification follows a characteristic pattern. Usually extra bone forms in the neck, spine and shoulders before developing in the elbows, hips and knees. The muscles of the diaphragm, tongue, eyes, face and heart are characteristically spared. The well-documented and characteristic progression of FOP, was well as the regions not affected, likely hold important clues to the cause and development of the disease.

FOP affects mobility because the body’s joints, such as the knees or the elbows, connect the bones and aid in movement. In FOP, extra bone replaces the ligaments (which cover the joints), as well as muscles and tendons (which move the joints). Consequently, movement in areas affected by FOP becomes difficult or impossible.

Is there any treatment for FOP?

At the moment, there is no treatment for FOP.  For now, medication is only helpful to manage the symptoms of FOP such as pain and inflammation.  More information can be found in The Medical Management of Fibrodisplasia Ossifican Progressiva: Current Treatment Considerations.

Can a child with FOP go to regular day care/kindy/school?

Yes. All children with FOP go to regular educational settings. FOP does not affect a person’s intelligence or cognitive abilities.  The only reason a student would attend a Special School is if they also had an intellectual disability, and that was the preferred choice of the parent.  The school a child with FOP attends would be required to make reasonable adjustments to ensure the successful participation and inclusion of that child.  For example, accessibility of the campus, specialised equipment, technology and teacher aide assistance if needed.  For more information go to the section with specific information on education.

Can a person with FOP do sports and other physical activities?

Yes.  People with FOP select their activities carefully and try to avoid those which pose a higher risk of injury.  In addition, people with FOP might participate in activities with certain modifications eg extra padding for some sports, playing in certain positions that require less movement, adapting techniques or using modified equipment.

Are there any activities or hobbies that are particularly recommended for people with FOP?

Yes. Singing, speech, drama and swimming are all excellent activities for a person with FOP because they help maintain and support respiratory function.

Can a person with FOP have a career after school?

Yes. Many people with FOP have gone on to tertiary study and many have successful careers in a range of fields. This is a choice for the individual to make. People with FOP have pursued careers in teaching, law, medicine, IT, journalism, sales, management, social work and small business to name a few.