By focusing our efforts on the rarest diseases, we make substantial impact in areas with significant unmet needs
There are more than 460 known rare bone disorders, which constitute 5% of known rare diseases, affecting millions of people around the world. Despite this, only 1% of rare disease research covers rare bone disorders. People living with rare bone disorders face many challenges, including debilitating and painful symptoms, and profound psychological, social, and economic consequences.
Fibrodysplasia ossificans progressiva (FOP) is a severely debilitating genetic disorder characterized by the formation of bone outside the normal skeleton. Despite recent progress, patients and their caregivers still face a prolonged diagnostic journey, and time to correct diagnosis can vary significantly between individuals.
Raising awareness of the unmet needs facing the FOP community among key audiences will be vital to address these challenges and improve the care of patients globally.
Global prevalence
Fibrodysplasia ossificans progressive (FOP) is one of the rarest diseases in the world, with around 900 people known to be living with FOP worldwide.
Diagnosis
FOP is misdiagnosed in just over half of individuals (52.5%), with the most common incorrect diagnoses including cancer, juvenile fibromatosis, and myositis ossificans.
Rare bone diseases at a glance
There are more than 460 known rare bone diseases, which constitute 5% of known rare diseases, affecting millions of people around the world. Despite this, only 1% of rare disease research covers rare bone diseases.
Fibrodysplasia Ossificans Progressiva (FOP)
- FOP causes heterotopic ossification (HO); a permanent abnormal new bone formation in soft and connective tissues, like muscles, tendons and ligaments.
- It is an ultra-rare genetic disorder, characterized by inflammatory flare-ups that begin in childhood.
- HO leads to severe functional limitations in mobility, progressive disability, and shortened life expectancy. On average, patients are diagnosed at the age of 5, and their median life expectancy is 56.
‘A Life in a Day’: the realities of living with FOP
I was honored to be invited to take on the challenge to live ‘A Life in a Day of a patient with FOP’ – but…
A Life in a Day with FOP: from Empathy to Understanding
You can never truly understand what it’s like to live with an ultra-rare condition unless you’ve experienced it for yourself. And with this in mind,…
Understanding the true impact of living with FOP
This year marks the 17th anniversary since the discovery of the ACVR1 gene was announced, a major scientific milestone in fibrodysplasia ossificans progressiva (FOP) research that helped us…
Working in rare disease has taught me to better support FOP
We are delighted that this FOP Awareness Day Dr Rolf Morhart shared his invaluable insights gained through his career working in clinical practice supporting people…