BENGALURU: Sashikala, a mother of two suffering from rare disease Gaucher visits Bengaluru twice every month for more than 10 dosages of injection. They travel more than 400 kms because if they do not get injections on time, her sons get severe joint pains and find it difficult to walk. She remembers how she travelled to different cities and met several doctors to find out what’s wrong with her one and a half year old elder son with his stomach bulging out.
At the age of five, her older son Abhishek also underwent a surgery and got his spleen removed. “There was no cure then. We finally got the medicine seven years ago. Now, they are fine. They are into extra curricular activities. They dance and are performing in Bengaluru and New Delhi. We travel to Bengaluru every month as there are no proper facilities and doctors there,” says Shashikala.
Prasanna Shirol from Organization of Rare Diseases India (ORDI) says, “We see 60 to 70 cases of rare diseases every month in Bengaluru and that is just the tip of an iceberg.” The organisation has received about 3,000 calls from doctors and patients or families from across the country on their 24/7 helpline number 088925 55000 in two years since its establishment. They get call from South India and states such as Odisha, West Bengal and Uttar Pradesh. “In Bengaluru, people mostly know about our work and come directly or through reference of some doctors for diagnosis or treatment,” he says.
Lack of information and access to the right information, especially in rural areas, is a challenge and Prasanna hopes to sort it out with the helpline. Father of Toushif could not understand what was wrong with his son when he developed joint pains at the age of nine. He took him to orthopaedics but there was no relief. He travelled to different hospitals and finally when Toushif was about 20 years old, he was diagnosed with a rare disease Pachydermoperiostosis.
Toushif says, “I was a runner. I developed joint pains and was also finding it difficult to use Indian toilets. My foot started growing larger and we thought it could be some allergy. Gradually I started developing wrinkles on my face and people would mock at me saying I had Brahma lipi on my forehead.”
A clerk at State Bank of India in Shivamogga, the 30-year-old has accepted his life the way it is now. His palm, fingers and legs have grown bigger than the normal size. He’s blind and as his eyelids have grown bigger and his eyes keep watering. “There is no cure available now. So, there is no hope to discover one,” he says.
The patients with their families were present at a press conference held by ORDI recently. The organisation is organising Race for 7 to create awareness about the rare diseases on February 25 at St Joseph’s Indian High School. This is the third edition of the event. The number 7 represents the 7,000 rare diseases that have been identified across the world and the diagnosis period of seven years.
“It takes about seven years to diagnose a rare disease. When a person has a respiratory issue, he will go to a pulmonologist and over a period of time, he starts developing other symptoms. So going to multiple specialists takes about three years and that’s why, the diagnosis for these diseases gets delayed,” explains Prasanna. To register for the race, visit its website racefor7.com.