Jessica Klein, Consultant for Tin Soldiers Global, discusses fibrodysplasia ossificans progressiva (FOP).
FOP is a rare disorder in which skeletal muscle and connective tissue are gradually replaced by bone. This condition leads to bone formation outside of the skeleton that restricts movement. This generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation. These flare ups last for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a genetic change at the same place in the ACVR1 gene.
A distinctive sign of the disease that should raise concerns about FOP is turned in big toes, which are usually present at birth. However, this usually goes unnoticed and when more telling symptoms begin to appear, lead to misdiagnosis.
Ms. Klein discusses how important family and patient-lead organizations are for the rare disease community. Their benefits include their ability to focus on one disease and their access to patient-support resources and community that may be difficult to come by in large corporations.
To learn more about Tin Soldiers Global, visit https://www.tinsoldiers.org/
To learn more about FOP and other rare musculoskeletal conditions, visit https://checkrare.com/diseases/musculoskeletal-diseases/