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Online plea for help with rare disease

A recent article published in The New York Times has shed light on a rare disease case in India, one in which the family is now struggling to raise a shocking total of 2.1 million USD via social media before their daughter turns two years old.

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Image credit: naumas / 123rf

The Praveen family’s fourteen month-old daughter, Ellen, was rushed to the hospital by her mother one day after struggling to breathe. According to the New York Times, “[Ms Praveen] ran barefoot to a nearby clinic, but the doctors there said the child needed to see a specialist right away. Without an ambulance, she jumped on the back of a motorcycle and rode 35 miles to a children’s hospital in another town, where Ellen remained in intensive care for twelve days.”

Ellen had been struggling before this point, and was unable to lift her head or roll over despite her age. The doctors diagnosed Ellen with spinal muscular atrophy (SMA).

SMA falls under the category of rare disease and is an inherited genetic condition. There are four variations of the condition, with severity progressively decreasing from type one to type four. About sixty percent of those with SMA have type one, also known as Werdnig-Hoffman disease.

Type one SMA is either present at birth, or symptoms may become apparent within the first six months of life. As was the case with Ellen, typical milestones such as lifting the head or rolling over are not achieved, the infant may also have issues sucking or swallowing. As muscles continue to weaken, children become more prone to respiratory infections and collapsed lungs.

The disease is caused by a missing, or mutated survival motor neuron 1 (SMN1) gene, with a requirement of inheriting a faulty copy from both parents, who themselves would be carriers of a single copy of the gene. The disease causes the individual to lose a specific type of nerve cell in the spinal cord called motor neurons. This causes an impairment in signalling to muscles, rendering them ineffective and, as a result of underuse, they become weaker. 

Muscle loss is most defined in the torso and neck, eventually leading to significant issues with lung function. It is due to this that infants with type one SMA typically die by the age of two. This has left the Praveen family in a race against time. The family were told that a promising new gene therapy is available, however, the cost of the treatment would be 2.1 million USD.

The family has turned to social media and crowdfunding websites like ImpactGuru and GoFundMe. As with many rare diseases, the treatment is not licensed for use in India, and as such would not be covered by any current health insurance plan. As such, the family would need to pay these costs themselves. So far, the Praveen family has raised around 100,000 USD of the total needed, and time is tragically running short.

This is a situation faced by many across India, and indeed, the rest of the world. Rare diseases often have no treatment at all. When they do, the costs are often extreme due to the low number of individuals affected, driving up the costs. Research into these diseases, as well as interest from pharmaceutical companies to create new treatments are limited due to a lack of potential for a return on investment. While efforts are being made to assist those living with rare conditions, they are often falling short of expectations.

As recently reported by Health Issues India, the Delhi High Court has voiced their disapproval of the continued neglect for the treatment of rare diseases. The Court took issue with the fact that funding for treatment was still not being provided for Duchenne muscular dystrophy (DMD) despite requests by the Court. The High Court passed an order on 14th December last year on the issue of treatment coverage under the National Policy for Rare Diseases, 2021.

Diseases that fall under the banner of “rare disease”, 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. This figure includes roughly seventy million individuals in India alone.

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