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Can you imagine a world where you fear your every next step? What if an everyday fall, trip, or slip could mean losing further mobility permanently? FOP, or fibrodysplasia ossificans progressiva, is an ultra-rare, debilitating, and progressive disease that causes bone formation in muscles, tendons, and ligaments. It is also known as the "Stone Man syndrome" due to progressive ossification that restricts movement. But while there is no medical treatment to completely rid one of the disease, there are ways in which you can make your life or the lives of loved ones more manageable.
Intrigued? Click through this gallery to learn more.
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.
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.
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.
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.
FOP affects any part of the body where muscle and soft tissue is present, except for the diaphragm, tongue, eyes, face, and heart.
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.
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.
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.
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.
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.
Varying greatly from person to person, FOP’s severity and progression can impact everything from posture to the jaw.
Since there is limited understanding of FOP and those living with the disease, advocacy efforts including education for the public and policymakers is crucial.
Surgical removal of the extra bone growths have actually been shown to cause the body to repair the affected area with more bone.
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.
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.
Corticosteroids, nonsteroidal anti-inflammatory drugs (NSAIDs), and other pain medications are options for managing FOP symptoms and preventing flare-ups.
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.
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.
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.
Medical and scientific research on rare conditions, such as FOP, often leads to advancements in more common conditions and ultimately benefits a broader audience.
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.
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.
One prominent non-profit organization is the International Fibrodysplasia Ossificans Progressiva Association (IFOPA).
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)
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Can you imagine a world where you fear your every next step? What if an everyday fall, trip, or slip could mean losing further mobility permanently? FOP, or fibrodysplasia ossificans progressiva, is an ultra-rare, debilitating, and progressive disease that causes bone formation in muscles, tendons, and ligaments. It is also known as the "Stone Man syndrome" due to progressive ossification that restricts movement. But while there is no medical treatment to completely rid one of the disease, there are ways in which you can make your life or the lives of loved ones more manageable.
Intrigued? Click through this gallery to learn more.