Rare diseases continue to reap a considerable toll in India as patients struggle to avail treatment despite notified policies from the Central Government.
“Rare diseases are a serious public health concern in India, with an estimated burden of about 80 to 96 million cases reported annually,” said Dr Prashanth Bagali, Practice Head-Oncology at Strand Life Sciences in comments to the Hindustan Times.
Rare diseases, despite the rarity the term implies, are a life-changing and, unfortunately, life-ending issue for millions of people across the globe. Despite this they are among the most neglected diseases affecting humanity. Rare diseases cumulatively affect around 350 million people worldwide.
Dr Bagali goes on to note that “70-80 percent of rare diseases are of genetic nature, and thus are asymptomatic, but will appear in the person’s lifetime. Most of the affected communities are having high rates of consanguineous marriages (high genetic relatedness between individuals), high poverty, low education levels and inaccessible medical knowledge to make timely diagnosis of rare disease affected individuals.”
Upwards of 85 percent of diseases that fall under the umbrella term have no approved treatment. Fewer than one in ten patients receive disease-specific treatment even where diagnosis has been made. Roughly half of newly diagnosed cases of rare diseases occur in children and, according to Dr Bagali, are responsible for 35 percent of deaths before the age of one. These cases often result in extreme financial tolls on the family before the death occurs, as they attempt to avail an accurate diagnosis and treatment, unfortunately often in vain.
The National Policy for Rare Diseases 2021 sought to alleviate some of the financial burden of those impacted by the conditions, as well as provide a budget for dedicated research. In total, Rs four crore was ringfenced for the All India Institute of Medical Sciences (AIIMS) whilst approving an estimated Rs 25 crore for the year 2021-22 exclusively dedicated to rare diseases.
Heavy criticism was levied against the policy by the Delhi High Court after issues were noted in which funding for treatment was still not being provided for Duchenne muscular dystrophy (DMD) despite requests by the Court. The implication within the policy that crowdfunding be the first source of financing for those with rare diseases also provoked criticism from the courts, patient advocacy groups, as well as those affected. Many have felt that despite a bill being raised by the Centre – a step in the right direction in terms of awareness – the Bill itself offers no help to those impacted by the diseases at all.
Rare diseases present a unique, and tremendously difficult issue to deal with. While cumulatively millions are affected, each disease within the umbrella term may effect as little as a few thousand, or even just hundreds of individuals. As noted by Dr Bagali, most diseases have no specific treatment. More funds must be allocated to address the issue, not just to treatment, but to research that may one day improve the lives of those affected.