Despite the availability of ₹50 lakh of financial support for treatment of all rare disease patients, none of the six patients with Fabry Disease, who have been shortlisted for treatment on the Union Ministry of Health and Family Welfare’s crowdfunding portal, have been given the treatment, the Lysosomal Storage Disorders Support Society (LSDSS) has said.
In a letter to Union Health Minister Mansukh Mandaviya, Manjit Singh, national president of LSDSS sought the Minister’s immediate intervention to save the lives of patients with Fabry Disease, a rare yet treatable disease. April was observed as Fabry Disease Awareness Month. The disease, which is a rare disease classified under the National Policy for Rare Diseases 2021, is caused by enzyme deficiencies, affecting the functioning of the heart and kidneys.
In India, approximately 450 rare diseases have been identified. In terms of therapeutics, treatment approved of by the Drugs Controller General of India (DGCI) is available only for about 12 to 15 diseases, including Fabry Disease. Manifestation of symptoms of Fabry Disease is normally seen in patients who are in their 30s or 40s.
Mr. Singh, in his letter, said that mentioned that DCGI-approved treatment for Fabry Disease has been available in India for the last two decades. The annual cost for a patient weighing 10 kg, is approximately ₹20 lakh. However, none of the six shortlisted patients: two in Tamil Nadu, one each in Telangana, Uttar Pradesh, Jharkhand and Madhya Pradesh, have been put on treatment though financial support of ₹50 lakh for the treatment of all patients with rare diseases is available. Patients and their families have drawn the attention of the government towards the indifference shown by Centres of Excellence (COE) in shortlisting them for treatment, he said.
Mr. Singh appealed to the Union Health Ministry to issue necessary guidelines to the COEs to provide equal weightage to all notified disease conditions, including Fabry Disease under the national policy, and also to build capacities for preventive screening of patients. This should include conducting of regular genomic screening in dialysis and cardiac units across the country, mandatory screening of Fabry Disease at all dialysis units, family screening of Fabry Disease for all people with kidney ailments, and testing of all patients for Fabry Disease by hospitals providing nephrology care, he said.
Published - April 29, 2023 12:38 pm IST
