CHENNAI: February, with its 28/29 days is an outlier amid its counterparts of 30/31 days. What better time to discuss the lesser-known conditions that often stay ignored among their more common counterparts. For this upcoming World Rare Disease Day on February 28, doctors of varied fields shed some light on diseases that may individually affect few, but together pose a much larger issue and the challenges faced to treat the same.
But first, one must understand what a rare disease is. According to the National Health Portal, a rare disease refers to one that affects fewer than 1 in 2,500 individuals; the number may be as high as 7,000. “Rare diseases are disorders or diseases that have an infrequent prevalence in a country, or globally. They are usually severe, life-long disorders. Different countries have their own definition in the context of their population and healthcare systems. There is no uniform definition,” begins Dr Divya Agarwal, clinical advisor, Pediatrics, LifeCell Diagnostics. More than 70 to 80 per cent of these are genetic and include conditions like immunodeficiencies, skeletal dysplasias, bone disorders, metabolic disorders, neurodegenerative disorders, she adds.
Prevention first
Unfortunately, research for these diseases is very rare, owing to low funds, low number of cases and lack of marketability of the drugs which have such a small demand. Treatment is often difficult and expensive (when possible at all; rarely), given the lack of research and infrastructure in the field. So, the patient’s best bet on this is either early diagnosis or prevention altogether. When it comes to the latter, there is a catch. “Rare diseases are not very preventable because by the time they are diagnosed, the patient already has it. What we can offer is… if it is a degenerative disease (in neurology), we can lower the degeneration of neurons. If there is something we can do to alleviate the symptoms, those treatments are possible. But, to go ahead with those with genetic dispositions with underlying mutations, those become difficult to treat,” explains Dr Vigneshwaran, neurosurgeon, Prashanth Hospitals.
Dr PM Anbumaran, consultant pulmonologist, Be Well Hospital, gives another perspective from his field of expertise. “In the case of rare lung diseases, approximately 30 per cent are genetic (primary) while others are largely secondary, owing to smoking, based on occupation, disease ailment that is causing the disease and such. It’s always better to have an early diagnosis and a good scope on the family history of people. Most of the patients on this spectrum are asymptomatic. When they come for another disease, we take an X-ray and unfortunately find a rare disease. The treatment depends on what stage of disease it is. In the early stage, it is always symptomatic management of the disease and in an advanced case, there is a need for lung transplant,” he explains.
While preventing the disease in a person may be unlikely, it is possible to curb the transmission of these diseases in future generations by genetic counselling and pre-natal testing, concur Dr Vigneshwaran and Dr Divya. If parents are screened for these diseases before conception, they can prevent the birth of a child with said disease by either, not having a child, having an ovum or sperm donor, or by taking a sample from the foetus (pre-natal testing) and then the lab can predict if the child will have the disease; the couple can then consider losing the child, explains Dr Divya. And this is the focus of the National Rare Disease Policy — that was released in 2021 — as well. She explains that the same was a much-awaited policy by stakeholders, doctors and patients suffering from rare diseases. “This policy essentially aims at lowering the prevalence based on comprehensive, preventive strategy, which includes spreading awareness, and pre-marital, post-marital, pre-conception, and post-conception counselling of the rare disorders and screening for the same.”
What we need
To understand what is needed for the nation, it is important to have an idea of what is missing. Dr U Meenakshisundaram, director and senior consultant, Neurology at SIMS Hospitals, puts together the missing pieces. “When it comes to rare diseases, the difficulty is in the research and development and so, we end up having not too many options for treatment. And this also makes treatment really expensive. The problem with research is that since there are few numbers of people with rare diseases, it becomes difficult to do controlled studies. There are also very few institutes where one can get tested,” he details.
Dr Vigneshwaran adds that research is staggered due to the low profitability for the pharma industry; and thus, is often shouldered by good Samaritans who are affected by the diseases. Dr Anbumaran says awareness of these diseases among the public is an important need of the hour to ensure early diagnosis; followed by funding from the government that will enable the hospitals to afford infrastructure for screenings and only then will research for the same be possible. The main infrastructure required, according to Dr Divya, is medical geneticists and a genetic team, and doctors who have information and knowledge of the rare diseases should be there in every tertiary hospital, if not in every district, then in every state.
A record of some known rare diseases
n Cystic Fibrosis, multiple pulmonary microlithiasis, amyotrophic lateral sclerosis, idiopathic pulmonary fibrosis, Pompe disease, spinal muscular dystrophy, Gaucher disease, and Fabry disease