Hyderabad: While there are 7,000 recorded rare diseases, it is an uphill task to identify a patient with a rare disease. As per the Indian Organization of Rare Diseases (IORD), it takes an average of 4.8 years for a rare disease patient to be diagnosed, while the maximum time taken could be 20 years as well.
Sahasra Reddy, an 11-year-old child, was diagnosed with “progressive pseudo rheumatoid childhood arthropathy” – a rare disorder that bent her legs in such a way that her foot remained wide apart from each other making it difficult to walk. “We visited the doctor several times. It was diagnosed after a few years. She underwent corrective surgery and since then she has developed problems in the hip,” said her father, Vinay Kumar Reddy.
Syed Sanaullah, Member, Management Committee, IORD, said, “A doctor attends to 5-10 cases of rare diseases in their entire working life. So even when they cannot understand the issue, they do not say that they can’t treat the patient. Instead they keep experimenting with the patient.”
“In India, nearly nine crore people suffer from rare diseases, which accounts for 25% percent of rare disease patients globally. Identifying patients and forming support groups can help them deal with diseases better,” said Krishnaji Rao M, general secretary, IORD, stressing on the need to have a registry of patients with rare diseases.
Source: Times of India
https://timesofindia.indiatimes.com/city/hyderabad/difficult-to-identify-patient-with-rare-disease/articleshow/68247655.cms
