Jaisalmer: The district has reported a case of fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder that causes soft tissues to turn into bone. The diagnosis in a 9-year-old boy has raised concerns among medical professionals about possible misdiagnosis and the risks of invasive treatment.To address the issue, an awareness workshop was held Wednesday at the Govt Medical College, organised under the National Rare Disease Policy 2021 by the Centre of Excellence for Rare Diseases at AIIMS, Jodhpur. The event, attended by 143 participants including medical professionals and students, aimed to enhance early detection and diagnosis of rare diseases.Senior paediatrician Dr Dinesh Jangid said that FOP, also known as Stone Man Syndrome, typically manifests in childhood, with early indicators such as an abnormal big toe. The condition can lead to painful swellings, limiting mobility as the disorder progresses. Currently, there is no permanent cure, and management focuses on symptom relief and avoiding triggers that could prompt bone formation.Experts emphasised the importance of avoiding unnecessary invasive procedures that could exacerbate the condition. With FOP estimated to affect one in 15 to 20 lakh people, and only 700-800 cases reported worldwide, timely awareness and expert evaluation are crucial, particularly in remote areas like Jaisalmer.The workshop also highlighted the need for a communication network among healthcare providers to better support patients with rare diseases and suggested advocating for FOP’s inclusion in national health notifications.
