Many patients with rare diseases struggle to find specialised care, and the lack of awareness among healthcare professionals and the general public exacerbates the issue. To bridge the gap between lack of knowledge and awareness, many non-governments are working to raise awareness, support patients, and push for policy changes to improve the lives of those affected by rare diseases.

The Organisation of Rare Disease India and Rare Warrior of Bengal Association has done several awareness programmes with Kolkata Municipal Corporation and even launched a programme called ‘Kalyan Nirupam Yojana’. The civic body is also involving trained ASHA workers to conduct a survey through a questionnaire that would help them understand if the family is at risk. At-risk families will be asked to visit the nodal centre for further evaluation. It is being thought that diagnostics would be fine through crowdfunding. This thought is to end the diagnostic odyssey for rare diseases and a step forward for early intervention.

Advertisement

The Spine Research Foundation (SRF) is another organisation dedicated to enhancing the quality of life for underprivileged individuals suffering from spinal disorders. It is trying to raise awareness and share insights on adolescent idiopathic scoliosis. The NGO has already completed over 300 surgeries and 60 fellowships in super-speciality training and research programmes for aspiring spine surgeons.

Dr Saumyajit Basu, managing trustee of Spine Research Foundation said the organisation has trained technicians as well as junior doctors as training is an integral part of SRF as treatment requires skills in both bone and nerve surgeries. He stated, “We have speciality training programmes for spine surgery for two years. It is a very competitive test, and even the exit exam is very tough. Out of 50 seats in India, four are managed by our institution. We have programmes for physiotherapists and technicians. We have funding on education and research-based education.”

Counting on the positives of developments in the last few years in treating patients with rare diseases, Dr Basu said, “Complications in surgeries have come down drastically with the advancement of technology and specialised training. With robotics and advanced anaesthesia techniques, we can do long 8-9-hour surgeries without much hassle. A lot of hospitals in eastern India use advanced technologies, but it remains inaccessible to the majority of patients because of high costs.”

There are now a lot of government and non-government schemes for economically weaker sections of patients. Also, the demand versus availability gap is huge, feels Dr Basu.

Dr Amitava Biswas, a member of the advisory board, SRF said awareness in the last five years has gone up a lot. “I arrived in Kolkata in 2012, and since then, there has been significant awareness. Earlier, people would get nervous when surgery was suggested to them. Not any more, as they have seen others get operated on for spine problems and get cured. This has alleviated their apprehensions. Eastern India is now turning into a subspecialty on the spine as we have a better understanding of the subject,” said Dr Biswas.

Due to the funding from SRF, patients like Atiqua Noor and Ina are getting uninterrupted treatment and other support, and their parents consider themselves lucky to get the help.

Atiqua Noor is an 11-year-old from Topsia, studying in Class IV. She has had spine scoliosis. When she was diagnosed with the disease at a younger age, the treatment costs proved too much for her father Muhammad Noor Alam, who drives a cab.

“She was first given treatment when she was just five, and until now, she has been operated on thrice. Around Rs 30-35 lakhs has been spent on her operations. The amount is too big for me. I only could pitch in with a very small amount, the rest of the cost was borne by the SRF. As a result, she can walk on her own. Though her right leg is a little weak, the doctors have said that she will get normal as she grows up,” said Mr Alam.

Ina from Kalimpong is another beneficiary. In her early teens, Ina goes to school after having 14 operations done on her. Her father, who runs a grocery shop, too felt it was impossible to get treatment for them without the financial help.