Four-year-old Fahim Rayeen, a patient registered with the All India Institute of Medical Sciences (AIIMS) in Delhi, tragically passed away in December 2022 while awaiting treatment for his rare disease.
Twelve other patients registered with the Centres of Excellence (CoEs) at Delhi's Maulana Azad Medical College (MAMC) and AIIMS have been diagnosed with Lysosomal Storage Disorders (LSDs) such as MPS I, MPS II, Pompe, and Fabry diseases. Their relatives have written a letter to the Union Health Minister Mansukh Mandaviya, drawing attention to their plight lamenting that they are not getting much needed therapy from the hospitals..
Currently, all these patients are receiving bridging therapy support from pharmaceutical companies, which means that none of the eligible patients have been able to undergo the life-saving Enzyme Replacement Therapy (ERT) as per the National Policy for Rare Diseases (NPRD) 2021, as they have lamented in their letter.
Parents and relatives of the patients expressed their disappointment that despite the Union Health Ministry's announcement in May 2022 of revised Rs 50 lakh funding provisions for all categories of rare disease patients, the patients have not yet received treatment at these two prestigious healthcare institutions even after nearly 14 months.
Rare diseases are debilitating lifelong conditions, and approximately 95 per cent of them have no approved treatment. It is estimated that only one in ten patients receive treatment specific to their disease. Access to and availability of drugs play a crucial role in reducing mortality associated with rare diseases. Furthermore, even in cases where drugs are available, they are often prohibitively expensive.
The conditions of these patients are classified as Group 3(a) in the National Policy for Rare Diseases 2021, for which the ministry had announced funding support for treatment up to Rs 50 lakh in 2022.
"My son was diagnosed with Gaucher disease and had his application uploaded on the national crowd funding platform. We even approached AIIMS Delhi for treatment multiple times but were turned away every time," said the father of Yusuf Khan.
"He could have easily been put under treatment with the Rs 50 lakh funding support, but the lackadaisical attitude of the CoE cost him his life,” he added.
The caregivers also highlighted the problems they face on a regular basis while commuting as quite a few of them have to travel to another state due to the absence of a CoE in their home state.
Some of them even alleged that the administrators at the CoEs were negligent and rude. Several patients are unaware of the funding support provided by the government, as the CoE has not made any effort to inform them, the letter highlighted, as per reports in a news agency.
"Through this note, we would request your timely intervention in this regard as it will not only address the lack of urgency and empathy on the part of AIIMS Delhi and MAMC towards these patients but also help put them on immediate treatment, preventing any further loss of lives," they said in the letter.