As originally reported in the Hindu Times; getting healthcare for a rare disease is hard, in general. 95% of rare disease patients have no therapy options available. Thats 380 million patients patients world-wide! One by one it may be rare, but that is by no means a small number of people suffering from lack of coverage. As researchers at the Centers for Disease Control and Prevention wrote, orphan drug have this name because of “their failure to attract the interest of researchers, medical specialists, drug makers, and policy makers.”
Some patients though, benefit from resources from governments which may provide subsidies for these orphan drugs or later directly for the patient. This institutional help can make it possible for patients to eventually finance million dollar drugs. The countries described though are the well-off ones, that have extra resources that can be put into more expensive niche projects.
However, the story is different for the many other rare disease patients who live in countries that can not provide aid for these expensive treatments. Typically these countries are not engaged in orphan drug development and patients do not receive treatment options. The drugs may be developed, but they are not accessible to them.
This was the case for Prasanna Shirol’s 20 year old daughter, who suffered from Pompe disease. She received the first Pompe diagnosis in India after her family spent seven years searching for the disease.
Pompe Disease
Pompe disease is a rare genetic disorder, further broken down into three major types, that causes high levels of the complex sugar ‘glycogen’. This sugar that is present on the cellular level accumulates to the point at which the body cannot process it. This buildup then damages the functioning on the body and its organs. The disease is life threatening.
Shirol and his daughters story
Shirol’s daughter had spent years with many unexplained symptoms that kept the family seeking medical advice. She commonly suffered from infections, indigestion, and they noticed delayed milestones within her first year of life. She had episodes that required hospitalization and had to be put onto a portable ventilator. In her late teens, she went into cardiac arrest and then into a coma, as she has remained for the next two and a half years. She remains today in a comatose state kept on a ventilator, passing her time at her home.
For this type of disease, treatment costs can be extremely high, resultantly unaffordable for normal families. In Shirol’s daughters case, her treatment was subsidized by a humanitarian grant from the pharmaceutical company. He explains that without that, he wouldn’t have been able to afford the impossibly high price, and looks to the government to also participate.
India’s policy
To address this unmet need, India’s Union Health ministry has been drafting a ‘National Policy for Treatment of Rare Diseases’ which they estimate could affect between 72-96 million people in India. This draft will be gathering opinions from the many relevant stakeholders- patients, pharmaceutical companies, advocacy groups, etc. Dr Ratna Puri, a chairman at the Institute of Medical Genetics and Genomics at Sir Ganga Ram Hospital, explained, “At our centre we see about 5,000-6,000 rare disease patients annually that are new, old and follow-up cases. It’s an absolutely unmet need, and individually they may be rare but collectively they aren’t so rare. There’s treatment but just because they are born in India there isn’t adequate access to treatment.” Their efforts to create a national policy will hopefully guide their methods for their approach to rare diseases by creating definitions and standards. They are currently creating a rare disease registry and gathering data about the real effect rare diseases have on India. They can then figure out the costs.
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Sometimes we can forget that within intersections of an already less privileged group, like rare disease patients, the variation in care within this community is similarly vastly unequal. The intersection of rare disease with income level and country of origin only exacerbates that disadvantage even more. Most of the treatments for rare diseases are distributed in a small number of countries, to a small share of patients. Hopefully, countries like India will continue amping up these initiatives and taking a look at the unmet needs of rare disease patients.
