Fabry disease: Advocacy group seeks Health Ministry's intervention

New Delhi: An advocacy group has written to Union Health Minister Mansukh Mandaviya, urging him to issue guidelines to the Centres of Excellence (CoEs) to provide equal weightage to all notified disease conditions, including Fabry disease, under the updated National Policy for Rare Diseases.

As the world commemorated April as Fabry disease awareness month, the patients of this rare yet treatable disease in India are staring at a bleak future, the Lysosomal Storage Disorders Society of India said.

Fabry disease is a part of rare diseases classified under group 3 (a)  in the National Policy for Rare Diseases 2021. It is caused by enzyme deficiencies, affecting the functioning of the heart and kidneys.

The diagnosis rate of Fabry remains low, largely due to low awareness, and the manifestation of its symptoms normally happens in the 30s or 40s.

Studies on Fabry patients in India have shown that untreated males and females have a reduced life expectancy of 20 years and 10 years, respectively, due to progressive renal, cerebrovascular, and cardiovascular complications, the group said in its letter.

The estimated prevalence of Fabry disease is 1/40,000 to 1/1,17,000 live births. However, there are examples in India wherein patients upon receiving timely treatment continue to lead normal lives.

"Sir, we would also like to inform that DGCI approved treatment for Fabry disease is available in India since last two decades. The annual cost in INR for a Fabry patient weighing 10 kg is approximately Rs 20 lakh.

"However, none of the six Fabry disease patients shortlisted for treatment on Ministry of Health's crowd-funding portal has been put on treatment, despite the availability of Rs 50 lakh financial support for treatment of all rare disease patients. Fabry patients and their families have drawn our attention towards the indifference shown by CoEs in shortlisting them for treatment," the letter said.

Without institutional support, these patients, predominantly belonging to weaker sections of society, had little chances of survival.

"Ministry of Health and Family Welfare should issue necessary guidelines to the CoEs to provide equal weightage to all notified disease conditions, including Fabry disease under the National Policy for Rare Diseases 2021," the letter stated.