FOP: An Abnormality in the Toe is Actually An Ultra-Rare Disease

Fibrodysplasia ossificans progressiva (FOP) brings a serious meaning to a commonly-used phrase: ‘My big toe.’ According to a recent article in the Orphanet Journal of Rare Diseases, FOP is an ultra-rare and disabling disorder causing congenital (from birth) abnormalities of the big toes (Hallux).

FOP is also known to cause heterotopic ossification (HO) meaning bone found in soft tissue which is an unusual occurrence. Instead, the human skeleton consists primarily of soft cartilage that is transformed into bone during a child’s development.

About FOP Symptoms

Young children who have FOP may develop swelling in soft tissues, pain, a reduction in movement, and stiffness. These symptoms are often referred to as ‘flare-ups,’ and at times are spontaneous.

However, symptoms may also be triggered by:

  • Intramuscular injections into the bulk of select muscles
  • Muscle fatigue
  • Unnecessary biopsies
  • Dental work
  • Viral illnesses
  • Minor trauma

Although HO may result from flareups, viral FOP may occur even if there were no flareups. Cardiorespiratory failure is most often the cause of death. There are no specific medical therapies for the disease

HO is severe, resulting in joint limitations. It is permanent, cumulative, and disabling, causing most patients as they age to eventually use wheelchairs.

Attempts to treat FOP by physicians who do not have experience with the disease can result in flare-ups or disease progression. Patients with FOP may undergo surgical procedures that are unnecessary, or they may be prescribed unsuitable drugs. These interventions only add to their disability.

FOP and the International Community

Representatives from the International Community for FOP met on March 22, 2021 to discuss the unmet needs of FOP patients. Thankfully the International FOP Association and a number of newly formed organizations are starting to offer clinical guidance, fund research, raise awareness, and offer support for patients.

The Tin Soldiers, one of the organizations that attended the meeting, is a global non-profit program. The organization provides care and diagnosis for people with FOP, especially in underserved communities.

Throughout the world, patients with FOP must face the inequities of gaining access to specialist care as well as unequal support provided by patient associations.

In Conclusion

It is crucial that FOP patients are accurately diagnosed. This will prevent early loss of mobility and other debilitating symptoms.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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