FAQs

Fibrodysplasia Ossificans Progressiva 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 because of newly formed mutations, with 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 children.

It is estimated that over 90% have the “classical” R206H mutation, with a small proportion of patients having atypical ( “variant”)  mutations of FOP. These people may have clinical features that are unusual for FOP.

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

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

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 similar to the process where bone forms normally in an embryo.  The main abnormality in FOP is not the manner of bone formation, rather its timing and location.

A flare is an episode of new FOP bone formation. 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 flares may also occur during an active period of FOP. When a flare 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 are usually painful, the degree of pain can vary. Most people find that the pain of a flare subsides.

Outside of a flare episode, many people with FOP also report chronic pain relating to mechanical consequences of fused joints.

There is also increasing evidence that many people with FOP may gradually develop new bone in between discrete ‘flare’ episodes.

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.

FOP affects the head, neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles, jaw and many areas in between. 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.

At the moment, there is no treatment for FOP, but several drugs are being researched and tested in clinical trials.  For now, medication is only helpful to manage the symptoms of FOP such as pain and inflammation.  More information can be found in the treatment guidelines through the link at the top of this page (and at the top of every page of the FOP Australia website).

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.

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.

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

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.