Unknown Medical Condition: When ‘Rare’ Aligns With Alarming

A dictionary may not be the right place to look up some words. It is because you don’t get the range of emotions that go with the word when you use it in real life. Take ‘rare’ for instance, or ‘positive.’ Both words should exude some amount of pleasantness. Now, pair them with HIV (positive) and rare (genetic disorder), and you would soon realise the words have negative and fearful impact on our life, resembling dark tunnels with no end in sight.

This is exactly what the parents of children with rare disorders face. Yes, medical science is a dynamic field with ever-growing knowledge. But thanks to the types of food and atmospheric pollution to which one’s body is constantly exposed (courtesy the same ‘science’ and inventions), we are also breeding mutant germs that are resistant to traditional medicines, thus leaving our children with less hope for tomorrow.

But cynicism is not an answer here. Individually, none of us would have the power to change the course of things; all we can do is come together during difficult times and experience the power of solidarity.

And probably the answer lies somewhere right there – in the power of solidarity. It could even be strong enough to alter the perspectives we have to meet the challenges of tomorrow, if not strong enough to decode them for us today.

Reading One of a Kind, an article written by Seth Mnookin and published in The New Yorker, conjures up some contradictory sets of emotions within one’s mind. But it is not just about despair, it is also about hope. It is not just about helplessness, it is also about responsibility towards the society. The intricately detailed and painfully accurate article traverses through minutiae of sufferings while evoking hope at the same time for the future.

It is about parents who are facing an everyday challenge of caring for a child who has probably the rarest of rare disease. It is about coming together of many of those parents, with the help of researchers and social media, and a small sprout of hope about finding answers for the medical conditions their children are suffering from while accepting the fact that these findings may NEVER help their children.

And yet, like the Oracle tells Oedipus, “Hope springs eternal from the human breast.” Still, it is not easy seeing hope beyond self. But maybe, just maybe, the bigger human in them dominates the ‘person.’ If there’s a takeaway from this article, it’s heavily juxtaposed with hope and despair in equal measures.

Our heart goes out to Matt and Cristina, as much as it does to Matt and Kristen, Kelsey and Daniel, Pam and Tony. Matt and Matt (yes, there are two of them) have gone to great lengths to advance the research on NGLY1 disorder, which has affected their kids. They have donated generously for the research in this stream, making sure this doesn’t remain an issue for thousands of parents in the future.

But this is in the west, where possibilities of research and collaborations are huge with advances in the technology sector. Moreover, the medical sciences space in the west is not just about conducting human trials since the legal system there is strong enough hold out a warning.

But in a country where the population hugely outdoes the resources available, the probability of any attempt to find answers could be met with roadblocks. The knowledge is available, but the resources are too lean to harness it.

Rare diseases in India can be a curse for the parents who will be forced to run from pillar to post. Support groups may be a reality in urban, elite pockets, but the vast rural areas will never experience this privilege.
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