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Early warning signs -

People with FOP are generally born with malformed big toes and may also have short thumbs and other skeletal abnormalities. FOP usually begins during early childhood and progresses throughout life.

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Genetic mutation -

This condition can be inherited, but is usually caused by spontaneous new mutations in the ACVR1 gene. In healthy individuals, the ACVR1 gene helps control the growth and development of bones and muscles.

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Heterotopic ossification -

Heterotopic ossification (HO) is the presence of bone in soft tissue where bone normally does not exist. HO is the defining feature in people with FOP.

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Impact on different body systems -

FOP primarily affects mobility by forming bones in muscles. In severe cases, it can restrict chest wall movement, impacting breathing. In very rare instances, ossification near the eyes or jaw can affect vision and speech.

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Parts of the body impacted -

FOP affects any part of the body where muscle and soft tissue is present, except for the diaphragm, tongue, eyes, face, and heart.

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What is the life expectancy of a person with FOP? -

A study of more than 400 individuals with FOP published in the Journal of Bone and Joint Surgery in 2010 noted that the average lifespan was 56 years.

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Does every person have the same type of FOP? -

According to the FOP Treatment Guidelines, approximately 97% of individuals with FOP have the same mutation, while approximately 3% of affected individuals have one of several variant mutations in the ACVR1 gene.

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Progression and loss of mobility -

FOP is a progressive disease, meaning that it gets worse with time. Indeed, over time, people with FOP lose mobility, which can impact their daily lives in big and small ways.

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The importance of early diagnosis - Early diagnosis allows for prompt intervention and management strategies to minimize flare-ups and maximize mobility for as long as possible.

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Who is affected? -

FOP was first identified in the 18th century. Today there are an estimated 4,000 affected individuals worldwide, but only 900 are known cases. It should also be noted that this disorder doesn’t discriminate based on gender or ethnicity.

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Physical challenges -

Stiffness and pain during movement are early warning signs. As the disease progresses, seemingly simple tasks like raising your arms or bending over can become nearly impossible.

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What physical variations are seen from person to person? -

Varying greatly from person to person, FOP’s severity and progression can impact everything from posture to the jaw.

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The importance of advocacy -

Since there is limited understanding of FOP and those living with the disease, advocacy efforts including education for the public and policymakers is crucial.

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Emotional challenges - People with FOP not only struggle physically, but can be impacted emotionally as well. Patients report a loss of independence, feelings of anger, and a general uncertainty about the future.

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Can the extra bone be removed? -

Surgical removal of the extra bone growths have actually been shown to cause the body to repair the affected area with more bone.

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Daily life adaptations -

One way to help improve the quality of life for patients with FOP is occupational therapy. Performing periodic OT evaluations is necessary for those using assistive devices as activities of daily living change.

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Clinical trials and patient participation -

Clinical trials are essential for testing new treatments, and thus patient participation is critical for success. FOP patients who volunteer are contributing directly to advancements in treatments.

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Current treatment options -

Corticosteroids, nonsteroidal anti-inflammatory drugs (NSAIDs), and other pain medications are options for managing FOP symptoms and preventing flare-ups.

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Emerging therapies -

Recently, options like Palovarotene, an oral medication that works by blocking a specific protein involved in bone formation, have become available. Additionally, gene therapy could, one day, offer a more long-term solution.

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Raising awareness for a rare disease - Public awareness for rare diseases like FOP is crucial in that it educates healthcare professionals and encourages funding for research and, eventually, leads to earlier diagnoses and better support for patients.

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What are my first steps if interested in a clinical trial? -

First speak with your doctor and inquire about whether a particular trial is appropriate for you. Feel free to ask questions, take notes, and bring a loved one to help.

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The hope for a brighter future -

Though currently an incurable disease, gene therapy experts are hopeful that there is potential to modify the faulty gene and offer a long-term solution to FOP patients.

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The importance of rare disease research -

Medical and scientific research on rare conditions, such as FOP, often leads to advancements in more common conditions and ultimately benefits a broader audience.

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Supporting medical research -

As with any important matter, your voice is key! Make sure to advocate for increased funding for medical research, and contact your elected officials urging them to prioritize resources for rare diseases like FOP.

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The power of community and support -

Community support for all individuals facing health challenges is crucial. Those with compromised immune systems and living with diseases are already facing so much alone, so do your part in supporting them.

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Resources and support groups -

One prominent non-profit organization is the International Fibrodysplasia Ossificans Progressiva Association (IFOPA).

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Where can I learn more about FOP? -

Reputable resources include the Fibrodysplasia Ossificans Progressiva International (FOPI) website and the National Organization for Rare Disorders (NORD) and National Institutes of Health (NIH) websites.

Sources: (Verywell Health) (Genetic and Rare Diseases Resource Center) (NORD) (Penn Medicine) (IFOPA) (National Library of Medicine) (SpringerLink)

See also: The whooping cough outbreak claiming infant lives

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