On May 29th, 2019, the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) alongside other members of the fibrodysplasia ossificans progressiva community, sat down for an hour long ‘listening session’ with representatives from the US Food and Drug Administration (FDA). The ultimate goal of these sessions is for officials from the agency to gain a greater understanding of the most urgent needs, treatment priorities, experiences, and overall perspectives of the patient community.
About Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare, severe, and unusual disease. It is characterized by the abnormal transformation of damaged soft tissue into bone. This process is known as ossification. It is the only known medical phenomena in which one organ system is changed into another. It is incredibly rare, with less than 1,000 confirmed cases worldwide. Fibrodysplasia ossificans progressiva is caused by a mutation that affects a gene responsible for tissue repair. This mutation often appears spontaneously and is rarely passed down. Signs and symptoms include deformed big toes at birth, tumor-like lumps, and the slow transformation of soft tissue in bone, which is usually triggered by a flare-up that appears before age ten. The transformation of tissue into bone usually begins from the neck and spreads downward over the years. Patients eventually lose mobility almost entirely, becoming frozen in position. There is no known treatment. Life expectancy is around 40 years. To learn more about fibrodysplasia ossificans progressiva, click here.
A Life Full of Challenges
The dialogue with the FDA addressed a variety of subjects related to the disease, such as symptoms and experiences, the process of diagnosis, desires and preferences for treatments and overall outcomes, and the impact of the illness on daily life, finances, and overall quality of life.
Unsurprisingly, many patients revealed that getting diagnosed with fibrodysplasia ossificans progressiva is a lengthy and difficult process. With it being so rare, there aren’t a whole lot of physicians that are aware of it or know what to look for. Patients described frequent misdiagnosis and mistreatment such as surgery, which can actually dramatically accelerate the rate of bone transformation.
Patients also discussed the reality of chronic, often severe pain with this disorder. The bony growths can make it painful to even lie in bed and can cause severe migraines and other complications that inflict serious pain. Pain relief is an urgent concern for these patients.
Many patients also described having to give up on many of their personal goals and ambitions because of the knowledge that their condition would ultimately be totally debilitating in the future. These patients described feeling paralyzed by their diagnosis and feel unable to make any decisions, even minor ones, without considering their disease first. The disease undeniably has a major impact on patients and their families, and the extra care these patients need is also a major economic drain.
Ultimately, any therapy that could slow or halt the progression of the disease would be a major breakthrough. Some patients also mentioned that a treatment that could allow surgery to be conducted safely to free locked joints and allow movement would also be a major game changer.