Kolkata: Rare disease patients on Saturday appealed to the Ministry of Health & Family Welfare and the Centres of Excellence (CoEs) to give equal weightage to all notified diseases, including the life-threatening Fabry disease and Pompe disease.
Organising an awareness event for Fabry disease and Pompe disease on the occasion of World Health Day, Saurabh Singh, Founder Director, Rare Disease India Foundation (RDIF) – a patient advocacy group – appealed to the ministry and CoEs to prioritise the treatment support for patients diagnosed with these two rare, genetic conditions.
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.
Saurabh Singh said, “Although notified as a Group 3 (a) condition in the NPRD 2021, patients diagnosed with Fabry disease, Pompe disease, DMD and many more are still not getting the same priority, thereby delaying treatment and posing serious risk to their lives.”
“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 the process of disbursement of funds for the treatment of eligible patients had begun, we request the government to continue its support towards this cause and give equal weightage to all rare disease patients, ensuring all eligible patients have a chance at a good life,” added Saurabh Singh.
The event, attended by 250 rare disease patients along with their families and medical professionals, aimed to educate patients, caregivers, and healthcare professionals about the symptoms, diagnosis, and treatment of these rare genetic disorders which often go undiagnosed and untreated due to lack of awareness and resources.
Fabry month is an important opportunity to raise awareness about Fabry disease and it is crucial to do so because it is hugely under-diagnosed in India, which means people with the condition are not receiving the appropriate care they need.
Ramji Singh – Executive Director & Chief Executive Officer, AIIMS Kalyani 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 diseases are categorized in three groups – Group 1: Disorders amenable to one-time curative treatment; Group 2: Those requiring long term or lifelong treatment and Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.”
Ramji Singh said, “The need of the hour now is continued funding for Group 3 disorders such as Lysosomal Storage Disorders and DMD; and for the Centres of Excellence to include applications of Fabry and Pompe patients as these diseases also have DCGI approved therapies and are backed by clinical evidence of patients on therapy leading quality lives. However, as the cost of treatment is very high, crowd funding and other resources may also be strengthened.”
The event also included free tests and scans for rare disease patients, which was followed by an academic and awareness meet. Medical professionals from AIIMS Kalyani spoke about the symptoms, diagnosis, and treatment of Fabry and Pompe, and answered questions from attendees.