Rare Disease support group seeks treatment, government support for patients

Hyderabad, 11th March 2023: Rare Disease patient support group Lysosomal Storage Disorders Support Society (LSDSS), in partnership with the Centre for DNA Fingerprinting and Diagnostics (CDFD) and Nizam’s Institute of Medical Sciences (NIMS), organised an event to mark International Rare Disease Day at NIMS, Hyderabad. The event aimed to raise awareness about rare diseases, especially Lysosomal Storage Disorders (LSDs), and advocate for better treatment, care, and government support for patients.

Rare Disease Day is a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Sanofi has been supporting the rare disease day event commemoration in India for 13 years now, ever since the first event was commemorated in 2010 at the Sir Gangaram Hospital, Delhi.

Manjit Singh, President, LSDSS, said “We are delighted to have collaborated with CDFD and NIMS, Hyderabad to organize this event. Through this event, we wanted to raise awareness about rare diseases and advocate for better support and resources for patients and their families. Now that money for around 130 eligible patients has been released by the Ministry of Health and Family Welfare, we request the government to continue its support towards this cause by setting up an annual budgetary allocation, specifically for rare disease patients. This could go a long way in ensuring sustainability of funding, particularly to patients diagnosed with chronic rare conditions like LSDs.”

With the theme “Uniting for a Brighter Future: Empowering those with Rare Diseases”, the event was attended by several senior doctors along with rare disease patients and their families from the state.

Dr Nagari Beerappa, Director, NIMS inaugurated the event by lighting the lamp. He said “It is a very emotional moment for me as I see children all around painting and actively participating in the event today. There was a time when we used to receive letters from Lysosomal Storage Disorder patients for help but we ourselves did not know if there was a way because of the high treatment cost. Now, we have written a letter to the Central Government to release money for rare disease patients in our state and the state government is also inclined to help these patients by providing monetary help. These patients need our help and we request continued help from the government so that the lives of these children can be saved.”

Lysosomal Storage Disorders are rare genetic disorders, with an incidence of 1 in 7,000 people worldwide. Currently, there is no cure for LSDs, and the treatment is expensive, ranging from approximately INR 50 lakhs to 2 crores per patient. This makes the treatment unaffordable for most patients. The event highlighted the urgent need for increased awareness, better diagnosis, and more affordable treatment options for LSD patients in India.

Dr. Radha Rama Devi, Consultant, Sandor Life Sciences Hyderabad and Rainbow Children Hospital, Hyderabad said “Through the various programs available by the government, we need to have newborn screening in our state for treatable genetic disorders so that treatment can be made available early to avoid damage to organs. We have children on treatment at our hospital who are leading quality lives, which shows the transformational effect of early detection and timely intervention.”

In India, approximately 700 patients are currently known to be affected by various LSDs. While the number is estimated at approximately 65 in Telangana and Andhra Pradesh, the annual treatment cost is prohibitively expensive for most patients, and government support is necessary to provide better access to treatment and care for LSD patients.

Dr Ashwin Dalal, Head, Diagnostics Division at Centre for DNA Fingerprinting and Diagnostics, said “Rare Diseases are chronic in nature but can be managed with early diagnosis and timely intervention. The government has been taking positive steps starting with the finalisation of the National Policy for Rare Diseases in 2021, the subsequent increase in funding to INR 50 lakh per patient in 2022, and finally disbursement of funds and on-boarding of eligible patients in 2023. The announcement of a Centre of Excellence for rare diseases in Hyderabad is yet another testimony of the progress in the right direction. The need of the hour now is continued funding for Group 3 disorders such as Lysosomal Storage Disorders. While the government is providing monetary assistance, contribution of companies through CSR will help save more lives. Indigenous production of drugs will also help reduce the exorbitant price of therapy.”