Only one in 1.5 million people is born with fibrodysplasia ossificans progressiva (FOP), one of the rarest and most disabling genetic conditions known to medicine. It is so rare, points out Nicola Williams, who has a daughter with FOP, that even doctors don’t learn about it at medical school.
FOP causes muscle and connective tissues to be gradually replaced by bone. There are no other known examples in medicine of one normal organ system turning into another. Nicola describes FOP as a disease that "progressively imprisons the body in bone; a healthy mind locked inside a frozen body".
The dearth of information has prompted Nicola and many others worldwide to launch campaigns to raise awareness about FOP and offer support to those afflicted by this genetic disorder. And on April 23 each year, advocates for FOP like Nicola celebrate International FOP Awareness Day, commemorating the day the ACVR1 gene that is mutated in those with FOP was discovered 15 years ago.
To mark the event, Nicola, in collaboration with Avaya, is hosting a 24-hour silent auction for paintings made by UK artist Karina Vaile, with the proceeds to be used to help raise awareness and funds for the International FOP Association (IFOPA). Karina is also diagnosed with a rare condition known as Charcot-Marie-Tooth disease (CMT), a neurological disease that affects her mobility and causes tiredness, pain and weakness mainly to her hands, feet and legs.
"FOP is so incredibly rare that doctors don’t learn about it during medical school and even fewer doctors encounter it during their practice," says Nicola. "This lack of awareness is what leads doctors to make a misdiagnosis. Increasing awareness and helping doctors to diagnose patients accurately are the goals of FOP."
Nicola added that early diagnosis is key to providing FOP patients with the best possible care and treatment. Misdiagnosis of the disorder is common, causing a great deal of pain and suffering for FOP patients and families worldwide. According to IFOPA, the clinical characteristics of FOP include the presence of the malformed great toes and the rapidly appearing soft tissue swellings that form typically in the neck, shoulder, back and sometimes scalp or head.
To learn more about FOP and how you can support those who are living with this rare disease, visit the FOP Awareness Day website.