Understanding Fibrodysplasia Ossificans Progressiva (FOP)

FOP becomes apparent early in childhood. Infants are usually born with short, malformed big toes. Bone and joint problems make it hard for babies to learn to crawl. About half of people with FOP also have malformed thumbs.

Bone overgrowth tends to start in the neck and shoulders, causing periodic bouts of painful inflammation. This is sometimes accompanied by a low-grade fever.

The disease progresses at a different rate for each person. Eventually, it affects the trunk, back, hips, and limbs. As the disease progresses, the following symptoms may appear:

• Movement can become severely restricted as bone grows into joints.
• The spine can become deformed or fused.
• Limited mobility may cause balance and coordination problems that can lead to injury due to falling. Even a minor injury can cause more inflammation and bone growth.
• Bone growth in the chest can restrict breathing, increasing the risk of respiratory infection. Any viral illness can trigger a flare-up.
• Limited movement of the jaw can make it hard to eat, which can lead to malnutrition and weight loss. Talking can also be difficult.
• About half of people with FOP experience hearing impairment.
• Poor blood flow can lead to pooling of the blood in the arms or legs, causing visible swelling.

A person with FOP can eventually become completely immobilized.

FOP does not cause extra bone growth to the:

• tongue
• diaphragm
• extraocular muscles
• cardiac muscle
• smooth muscle

FOP is caused by a mutation in the ACVR1 gene. This gene is involved in growth and development of bones. The mutation allows them to grow unchecked.

The gene can be inherited from one parent, but in most cases of FOP, it’s a new mutation in a person with no family history of the disease.

A parent with FOP has a 50 percent chance of passing it on to their child.

FOP is extremely rare. There are 800 confirmed cases worldwide, with 285 of them in the United States. Gender, ethnicity, and race play no role. Unless you have a parent with FOP, there’s no way to assess your risk of developing the condition.

Because it’s so rare, most doctors have never seen a case of FOP.

Diagnosis depends on medical history and clinical examination. Symptoms of FOP include:

• malformations of the big toe
• spontaneous flare-ups of inflammation or soft tissue swelling
• increased flare-ups after injury, viral illness, or immunizations
• difficulty moving
• frequent injury due to falling

Excess bone formation may be seen on imaging tests such as X-ray and MRI, but are not needed for diagnosis. The diagnosis can be confirmed with genetic testing.

The misdiagnosis rate could be as high as 80 percent. The most common misdiagnoses are cancer, aggressive juvenile fibromatosis, and fibrous dysplasia.

Early on, the symptom that can distinguish FOP from these other conditions is a malformed big toe.

It’s vitally important to get the correct diagnosis as soon as possible. That’s because certain tests and treatments for other conditions can cause flare-ups and encourage bone growth.

There’s no treatment that can slow or stop disease progression. But treatment for specific symptoms can improve quality of life. Some of these are:

• corticosteroids to reduce pain and swelling during flare-ups
• nonsteroidal anti-inflammatory drugs (NSAIDs) between flare-ups
• assistive devices such as braces or special shoes to help with walking
• occupational therapy

There’s nothing that can make the new bones go away. Surgery would result in more bone growth.

An important part of your treatment plan has to do with what to avoid. A biopsy, for example, can cause rapid bone growth to the area.

Intramuscular injections, such as most immunizations, can also cause problems. Dental work must be performed with great caution, avoiding injections and stretching of the jaw.

Blunt trauma or injury due to falling can cause a flare-up. Any physical activities that increase these risks should be avoided.

FOP can be dangerous during pregnancy, which can increase the chances of flare-ups and complications for both mother and baby.

FOP is chronic and there’s no cure. Treatment can help ease symptoms and improve quality of life.

The rate of progression is different for everybody and is difficult to predict. Some people go months or even years without a flare-up.

FOP can become severely disabling. Most people with FOP will need a wheelchair by the time they reach their late 20s. The median lifespan for people with FOP is 40 years.

Because it’s such a rare condition, most people have never heard of FOP.

There’s no way to prevent it. FOP is not contagious, but it’s still important to educate people about the profound effects of this condition.

Research for rare diseases moves slowly due to lack of funding. Growing awareness can help push research dollars where they’re needed.

Start by familiarizing yourself with organizations that raise awareness for FOP. They can tell you about programs and services, as well as how research dollars are spent. Here are a few:

• International Fibrodysplasia Ossificans Progressiva Association (IFOPA)
• Canadian FOP Network
• FOP Friends (U.K.)

Some of the organizations that raise awareness for rare diseases in general are:

• National Organization for Rare Disorders (NORD)
• Rare Action Network (RAN)
• Rare Disease Foundation

One of the best ways to bring attention to a rare disease is to share your own story. Learn all you can about FOP so you can provide accurate information and answer questions.

So, how do you get the word out? Here are a few ideas to get you started:

• Network with others affected by FOP or other rare diseases.
• Contact organizations involved in FOP or rare diseases. Offer to share your story and volunteer to help.
• Reach out to newspapers and television stations and offer to be interviewed.
• Contact health bloggers and ask them to write about FOP or let you provide a guest post. Or start your own blog.
• Offer to speak at schools and to local groups. Participate in health fairs. Join the NORD Speakers Bureau.
• Contact state and national representatives to discuss research funding.
• Use social media platforms such as Facebook, Twitter, and Instagram to spread the word.
• Hold a fundraiser for an organization or specific research project.
• Get involved in Rare Disease Day.