For the first time in India, people affected by ‘black-bone’ disease — Alkaptonuria (AKU) have come together to form a society, thanks to the initiative of Christian Medical College, here.
The move was a fallout from the international symposium organised by the departments of clinical genetics, rheumatology and orthopaedic surgery attached to the CMC that was held here on Saturday.
Alkaptonuria is a crippling disorder caused by gene mutation due to inbreeding. In India, more than one thousand persons suffer from the disease while many remain undiagnosed due to lack of awareness among patients and physicians alike.
According to the event organisers, doctors Sumita Danda and Issac Jebaraj, the AKU Society of India will work to raise awareness within India for better diagnosis and fund-raising for research and development to find a cure. At the moment, there is no cure for the disease.
Speaking to Express on the sidelines of the meet, Dr Nicholos Sireau, chairman of AKU Society at Cambridge, United Kingdom, who was one of the speakers, said the goals and objectives of the society must be set to suit local conditions.
While attributing lack of knowledge among medical professionals and inability of the patients to recognise symptoms of the disease as a main bottlenecks, Nicholos said, “We have patients who were diagnosed with the disease after 45 years. About 80 patients have been identified in the UK and over 1,000 in other countries.”
Dr Lakshminarayan Ranganath, director of the National Robert Gregory AKU centre in Liverpool, UK, who was also a speaker at the conference, said, the focus of the society should be to identify patients, extend support and knowledge to them so that they are able to manage the disease, provide information on the latest research updates, working with pharma companies to develop new drugs etc.
“It is also important that the society must be able to lobby with the government to devise special schemes to support the patients, as most of them here are poor,” he pointed out.
“We are willing to share our experience and expertise with the Indian society,” he added. He wanted the Indian society to focus on the families that had inter-marriages among small communities and the families of the affected patients.