Taking up the cudgel on behalf of the patients diagnosed with ultra-rare genetic conditions such as Lysosomal Storage Disorders, 24 Parliamentarians from across party lines have urged the Centre to ensure a sustainable fund to manage certain diseases under the National Policy for Rare Diseases, 2021.
In a letter to Union Health Minister Mansukh Mandaviya, the elected representatives including Dr Fauzia Khan, Amiee Yajnik, Manoj Kumar Jha, Dr Santanu Sen and Dr N S Kanimozhi batted for putting up a mechanism to ensure continuity to all such 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.
Dr Khan, convenor of the support group said, "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 Centres 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 in the letter written a day after the World Rare Disease Day observed on February 28.
She said 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.