RS MP flays delay in providing treatment to those suffering from rare diseases

Lack of urgency shown by the Centres of Excellence in treating people suffering from rare diseases like gaucher and pompe is endangering the lives of such patients in the country, NCP member Fauzia Khan has said.Raising the issue during a zero hour discussion in the Rajya Sabha on Friday last, Khan highlighted that most of those suffering from rare diseases are children.The MP noted that the National Policy for Rare Diseases was finalised by the Ministry of Health and Family Welfare on March 30, 2021.

Lack of urgency shown by the Centres of Excellence in treating people suffering from rare diseases like gaucher and pompe is endangering the lives of such patients in the country, NCP member Fauzia Khan has said.

Raising the issue during a zero hour discussion in the Rajya Sabha on Friday last, Khan highlighted that most of those suffering from rare diseases are children.

The MP noted that the National Policy for Rare Diseases was finalised by the Ministry of Health and Family Welfare on March 30, 2021. ''Subsequently, the ministry increased funding support to Rs 50 lakh per patient for all categories of rare disease patients in May this year but even after several months of the announcement, not a single patient diagnosed with life threatening rare genetic disorders has so far been put on life saving treatment. This unending delay and lack of urgency on the part of Centres of Excellence (COEs) has not only claimed several innocent young lives, but also endangered the survival prospects of close to 415 odd patients, largely children,'' she said.

Some of the patients are suffering from life-threatening conditions like gaucher, pompe, MPS I and Fabry disease. While gaucher is a metabolic disorder which leads to accumulation of fat in the spleen and liver besides other body parts, pompe is a fatal disease that disables the heart and skeletal muscles. Fabry is a life-threatening disorder that can lead to kidney and heart problems while MPS I affects the whole body and leads to organ damage.

The Rajya Sabha MP from Maharashtra pointed out that close to 190 patients, out of the 415 listed for treatment, can be put on therapies with the funds provided by the Ministry of Health. ''A majority of these patients have been diagnosed with rare diseases for which the Drugs Controller General of India (DCGI) approved therapies are available for many years," she said.

She stated the 10 designated COEs are yet to seek financial support for patients diagnosed with life-threatening diseases. ''This is despite several reminders from the ministry,'' Khan stressed.

She demanded that the government should issue necessary instructions to all the CoEs for time-bound filing of applications, particularly those diagnosed with conditions for which treatment and funding support are available. The government in May amended the National Policy for Rare Diseases 2021 and announced Rs 50 lakh monetary aid to all groups of rare diseases.

However, patients have experienced an inordinate delay in procedural formalities across COEs and the Ministry of Health. In order to provide treatment and care to those suffering from rare diseases, eight COEs have been notified, which are premier government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases.

In October, the ministry also had written to COEs seeking an explanation for the delay in submitting treatment applications.

In response, the COEs shared 19 applications with the ministry for the disbursement of funds for treatment, according to the Rare Diseases India Foundation (RDIF), a patient advocacy group.

So far, not a single patient has been put on treatment by any of the 10 COEs, causing great anxiety and uncertainty to the patient community, the RDIF said.