Rare diseases foundation appeals to govt to instruct healthcare facilities to treat patients

New Delhi: The Rare Diseases India Foundation has appealed to the prime minister and the health minister to issue necessary instructions to designated healthcare facilities to immediately start treatment of people diagnosed with life-threatening rare conditions such as Pompe disease.

"It has been over two months since the Ministry of Health issued an office memorandum extending the funding support of up to Rs 50 lakh for all categories of rare diseases, but the treatment of these patients is yet to start at the designated Centres of Excellence (CoEs),” RDIF Co-Founder and Director Saurabh Singh said in a statement.

The Rare Diseases India Foundation (RDIF) is a coalition of patient support groups.

The office memorandum, issued on May 19, 2022, had stated the amendment would come into immediate effect.

Expressing serious concern at the inordinate delay, Singh appealed to Prime Minister Narendra Modi and Health Minister Mansukh Mandaviya to issue necessary instructions and address communication gaps, if any, between the ministry and CoEs.

"It seems that the CoEs are still awaiting clear-cut instructions from MoHFW (Ministry of Health and Family Welfare) to start treatment,” he said, explaining that the life-threatening risks that many of the young patients, primarily children, are facing and the impending loss of lives due to the lack of immediate support for their treatment is a matter of grave concern.

According to conservative estimates, at least four of these children have already lost their lives in the last few months awaiting treatment support, the statement said.

As many as 340 patients, diagnosed with rare genetic conditions, primarily Lysosomal Storage Disorders like Pompe disease, Gaucher disease, Fabry disease and MPS I, have been qualified eligible by the eight designated CoEs after the necessary diagnostic tests and physical examination.

Another patient support group -- Lysosomal Storage Disorders Support Society (LSDSS) -- has filed a petition at the Kerala High Court, drawing attention that any delay in providing treatment to the patients diagnosed with Group 3(a) conditions could prove fatal.

“Thus, it is apposite in the interest of justice to direct the Ministry of Health and Family Welfare, state health departments and the CoEs to provide treatment to the patients," it said.

The field of rare diseases is complex and heterogeneous, and requires a sustainable support mechanism for diagnosis as well as treatment.

Such diseases are serious, chronic, debilitating and fatal, often requiring long term, specialised treatments/management and sometimes causing severe handicap. These conditions specifically impact minors, with nearly 50% of new cases occurring in children, causing 35% of deaths, the statement said.