When you fall sick, a visit to a doctor should have you sorted out. In fact, with the kind of advancements seen in the field of medicine and its related technology, potentially fatal ailments like cancers and other degenerative diseases are managed much better nowadays, giving hope to scores of patients. Through it all, there is a segment of patients with rare diseases who often have to fend for themselves with no guidance, treatment options or recourse of any sort.
The devastation rare diseases cause
By the time Shilpi Bhattacharya from Delhi was 24 years old, an unknown ailment had caused her walking to be compromised. No matter where the family went, they were unable to get a diagnosis. Seeking help internationally at Singapore, a misdiagnosis the first time, made way for an accurate diagnosis by a neurologist. By then, Shilpi was almost 30 years old and she was told that she suffers from GNE Myopathy, a genetic muscle disorder that leads to weakness and debilitation of muscles in the hands and legs. It progressively worsens until she will one day not be able to move around or use her limbs. Today, Bhattacharya uses a walking aid and knows there is no treatment or cure for her ailment. She works as a faculty of law at the Jindal Global Law School, Delhi.
GNE Myopathy is just one of the 7,000 known rare diseases in the world. "Collectively, these disorders are estimated to affect around 70 million individuals in India," says Meenakshi Bhat, senior consultant and professor in Clinical Genetics, Centre for Human Genetics, Bangalore. "It is estimated that 6-7 percent of the population worldwide is affected by a rare disorder."
Prasanna Kumar B Shirol is the founder and director of Organisation for Rare Diseases India (ORDI), an organisation that works extensively for the cause of rare diseases and which has brought about a number of initiatives, to improve the quality of life of rare disease patients. He is also father to Nidhi Shirol who suffers from Pompe Disease that causes a progressive degeneration of muscles. It took around seven years for Nidhi to be diagnosed correctly, but with no cure available, it has been only about managing the ailment. Today, Nidhi is around 18 years old, is paralysed from waist down and is on a ventilator round-the-clock. She needs continuous care and support. She is pursuing her second pre-university course currently.
"The world around patients and their families collapse when they get diagnosed with a rare disease," says Prasanna. "There are only around 500 FDA approved drugs worldwide for over 7,000 rare diseases. The situation in India is bad, as none of these are accessible to patients. Most diseases once diagnosed have to be managed only through supportive care. The cost of the treatment varies from lakhs to crores per year depending on the disease. With the absence of suitable healthcare policies and insurance schemes, the scenario is bleak for parents of patients."
What can make a difference?
Namitha, research director, Centre for Health Ecologies and Technology, says, "If rare diseases had some presence in medical education and curricula, neither Shilpi nor Nidhi would have had a traumatic diagnostic odyssey. Even doctors are not quite aware of such conditions. Moreover, there is a lack of treatment for many of these conditions since research is still on. Medical education is not equipping doctors to deal with this range of rare diseases. Hence the trauma of long diagnostics. Since most disorders do not have a treatment or cure, the least these patients should get is psychosocial support and counselling on how to deal with what life had thrown at them and their families."
Currently, rare diseases are getting some attention from the media and the government. The Central government is trying to put together a draft national rare disease policy and this will work well if it includes an orphan drugs act (a specific drug created to deal with a particular rare disease) to incentivise local production of drugs and devices. What is needed now is for the Central and state governments to act and invest in clinical research for treatment and curatives. This can be done based on the number of patients for each group.
"We need a comprehensive Rare Disease/Orphan Drug Policy that will address in totality the unique needs of the rare disease community from diagnosis, management and treatment to drug research and development, access and affordability – all factors that will help rare disease patients lead a better quality of life," says Naz Haji, SVP and managing director, QuintilesIMS India, an organisation that delivers integrated information and technology solutions in the healthcare sector. "We need a strong clinical research ecosystem to encourage research and development in the country. This includes not just a robust regulatory environment but also more awareness and education among the public at large about the value of clinical research so that patients can make well-informed choices whether to participate or not."
Until more attention is given to this sector of healthcare we are going to have more cases like that of Aarya Bhatkar, the son of Shital Bhatkar who was diagnosed at 1.5 years as suffering from Niemann Pick disease, a devastating progressive genetic disorder where the body cannot transport cholesterol and lipids in the cells. This leads to enlarged liver, spleen and jaundice and ultimately fatal liver failure. Fatality can occur in infancy or a little later like in Aarya's case who passed away at the age of seven.
Updated Date: May 06, 2017 20:44 PM