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.
