Rare diseases are considered rare, as it afflicts a small number of people in any population; according to the WHO it is less than one per thousand. Therefore, it hardly gets enough attention from governments or from the people in the medical world.
This has made diagnostics and treatment challenging to patients suffering from it. India alone accounts for nearly 70 million rare disease patients. India lags in creating wide spread awareness, diagnosis as well as drug development. There is absolutely inadequate medical attention and scienctific research on rare diseases in India. Interestingly, India had formulated a national policy on Rare Diseases in 2017 which was revised in 2021. Despite this, there has not been any forward movement in addressing Rare Diseases in India comprehensively in terms of creating a data base of doctors, hospitals etc specialized in this area, as well as in investing in medical R&D for rare diseases.
A majority of patients are made to run from pillar to post to even get, as simple as a diagnosis done. The high costs of treatment is taxing and exhausting for the patients and their families who are already in a state of shock (some are born with it).
Caught in this situation of rare diseases, was Rachit Shah, who was diagnosed in 2016 with a rare disease known as Isaacs’ Syndrome accompanied by Membranous Glomerulonephritis, Lymes, and Glaucoma. He was an ex-Investment Banker with an interest in sports, who led a normal, successful and happy life till then.
It was challenging for his family to receive a medical report confirming a condition considered RARE, that has no cure and can at best only be managed. He is an MBA in Finance and has an investment banking experience of over 13 years. Never did he imagine that his life will be thrown into turmoil.
He thought that he would not get a second chance to evaluate life’s priorities and his responsibilities towards them. Dealing with stabbing pain and constant twitches throughout his body was not easy. You might guess that these diagnoses altered the course of his life irrevocably, with his identity slowly changing from being a healthy person to becoming a patient. The transition was painful, to say the least.
His wish to address this situation and other questions regarding his journey made him start, Ordinarily Rare, an initiative to spread awareness about rare and chronic diseases by compiling and sharing knowledge and patient experiences for the benefit of others.
Rachit says “We are entering a time when the number of rare and chronic health cases is on the rise in India and therefore, I appeal and would be immensely grateful if you could endorse this endeavour through, for instance, social media promotions or organizing events to broaden awareness”.
“In my experience, although years have passed since my diagnosis, the burden of having a rare disease is as yet hardly understood. Some situations in life require more support than others”.
We need to address the challenging situation that Rachit faces and many others silently suffering various types of rare illnessness. To start with we request doctors to send us any details on the treatment and management of Issacs’ Syndrome. We also request details on hospitals/research centers working on this and other rare diseases.
Please write us on theindianpractitioner@gmail.com