New Delhi: Patients diagnosed with ultra-rare genetic conditions, including Lysosomal Storage Disordersrequire sustainable funding support, 24 Parliamentarians from across party lines wrote to Union Health Minister Mansukh Mandaviya, seeking his intervention in the matter. Under the aegis of the Parliamentary Support Group for Rare Diseases, the Mps from both Parliament and Rajya Sabha said this in a memorandum to the ministry of health on Rare Disease Day, stressing the need for a sustainable fund to manage certain diseases under the National policies for rare diseases, 2021.
Rare Disease Day is observed every year on the last day of February. “Classified as Group 3a conditions in the National Policy for Rare Diseases, 2021, we would like to draw your attention and seek measures in putting up a mechanism to ensure continuity to all these patients, subject to a review of the progress of these patients by competent members of the Central Technical Committee on rare diseases set up by the Ministry of Health and Family Welfare,” the Parliamentarians said.
Dr Fauzia KhanAmiee Yajnik, Manoj Kumar Jha, Dr. Santanu Sen and Dr NS Kanimozhi were among those who signed the memorandum.
According to Dr Fauzia Khan, the convenor of this support group, “In the last few months, we have been approached by several patients for different reasons, citing delay in treatment despite the availability of funding support made available by the Health Ministry.”
“This unending delay on the part of the Centers of Excellence (CoEs) has caused serious concern and anxiety to the patients and their families. Most of these patients are diagnosed with life-threatening rare genetic conditions, including Lysosomal Storage Disorders like Gaucher disease, Pompe disease, MPS I and II and Fabry disease,” Khan said.
She said the Union health minister has also been apprised of the apprehension by a section of the CoEs that despite a clear notification as a Group 3a condition, patients diagnosed with MPS I, II and Fabry disease are yet to be enrolled for treatment.
“Therapy for these conditions has been long available in India and approved by the Drugs Controller General of India. We would like to seek the ministry’s intervention so that patients with these conditions get the same treatment support.”
Parliamentary standing committee member Dr DN V Senthil Kumar said, “The increase in the public spending on healthcare is an extremely important step in ensuring equitable access to diagnosis and treatment for rare, genetic disorders, particularly those for which the Drugs Controller General of India approved treatment is available in the country for long.”
The field of rare diseases is complex and heterogeneous and requires a sustainable support mechanism for diagnosis as well as treatment. Rare diseases specifically impact children.
Nearly 50 percent of new cases occur in children, causing 35 percent of deaths before the age of one, 10 percent between the ages of one and five years and 12 percent between five and 15 years.
