Dr Ann Agnes Mathew, consultant paediatric neurologist, Bangalore Baptist Hospital
Let me start with a true story of a hopeful young couple who loved each other and married beyond their caste and language boundaries. They were a middle-class, educated couple who were confident that they could make a life together with opportunities in a big city.
A baby was born to them, and slowly the husband and wife were able to convince their respective families to lay their differences aside and come together, as they themselves had demonstrated it was possible. All was well till the elders in the family noted that at six months age the baby was a bit slow and not doing the things that one would expect for its age.
At this point I was consulted about this developmental delay in my capacity as a paediatric neurologist – someone who cares for babies and children affected with diseases of the brain, spinal cord, nerves and muscles. A delay in development is a sure warning sign that there is always something causing the deviation in normal development and milestones.
Often the primary suspicion would be to look for any problems within the brain, and that is indeed what we proceeded to do in this instance when we did an MRI scan of the brain. We detected abnormalities that further led us to an unexpected diagnosis of the rare Menkes disease, which is universally fatal in the first few years of life as the rare existing treatments fail to make meaningful changes.
Day in and day out we deal with children and families affected with rare diseases of the brain and nervous system. This is a glimpse into the lives of families thus affected as well as of those of us who treat them.
The first thing that would strike our mind normally would be, “How can babies get brain problems?” Usually, one would not be wrong to think thus, because in the normal course of events diseases affecting the brain — such as stroke — are often lifestyles disease, caused by the choices one makes such as what one eats, how much one exercises or even one’s habits, such as smoking.
But these little ones have not seen enough of life to have these kinds of issues. So how can a newborn baby have a stroke? Yet this is what we see and treat every day, and these are oftentimes caused by rare genetic diseases that might make the blood stickier than usual, causing the clot to form easily and thus throw a stroke by blocking a blood vessel inside the brain. We mostly see infants and little ones suffering from rare diseases, 80 per cent of which are caused by genetics. Contrary to what is often generally believed, one does not need to have a family history to suffer from these rare genetic diseases.
But one of the ways of reducing the incidence of many genetic disorders, especially the recessively inherited ones (where both the copies of the genes affected, as we inherit one copy of a gene from each parent, both the father and the mother, have to be partly affected with one normal copy and one abnormal copy) is avoiding marriage among relatives. Otherwise, one ends up sharing the same genetic defects with people who are genetically similar to oneself, and the end result is often disastrous with a baby affected with a rare genetic disease.
Rare diseases, by definition, are rare. They can occur anywhere between one in 1,500 to one in two lakh individuals, or could be rarer still. But what is common to all of them is the often seemingly mysterious ways that affected children present. Hence, they are frequently very challenging for their doctors to diagnose, as they might not have seen these illnesses, purely due to their rare nature. Various countries have differing definitions of what constitutes a rare disease, such as it occurring anywhere from among one in 1,500 to one in 5,000 individuals. These definitions for rare disease are very specific to each country, usually considering the resources and available infrastructure. Currently, India does not have a universally accepted definition for rare diseases.
Coming back to the baby and family at the beginning of our story, the parents and family were devastated when they were given the diagnosis of Menkes disease, which by nature is progressive and would invariably lead to death. It was impossible to accept that the quiet and peaceful little one would die soon. What was worse for us as the medical team was to counsel the family that they could have a second child who could also be similarly tragically affected.
Then came the inevitable question from the extended family: “How can we prevent this?” This is where things got tricky and sticky in our story, as this was an X-linked disease — which meant that it was transmitted from the seemingly healthy carrier mother, as she carried two X chromosomes and so was unaffected by the disease.
While I was figuring out a way of breaking this bit of further bad news to the family, the father surprised me as he guessed that I was in some sort of a dilemma. Quietly and without any fuss, he got out of the consultation room with his wife, but without the in-laws and the extended family. He then asked me for the rest of the information. When I explained the rest, both the parents broke down. But what surprised me was the resilience and the strength of love the husband and wife had for each other. The father hugged his wife and said, “I don’t want anything to hurt my wife.”
Ultimately, the little one succumbed to the disease a few months later while we did the best we could, which was to ensure that the death was as painless as possible.
The grace with which the family faced this heart-wrenching situation once again humbled us. They thanked us for helping them make the right decision! In this case all we did was help them avoid ventilation and inappropriate interventions, and gave comfort care for the baby.
Our stories are not always this depressing, but they usually tend to be gritty. Of the 7,000 or so rare diseases, only about 400 have some form of treatment. Rare diseases are often called ‘orphan diseases and their medicines are called ‘orphan drugs’ for a reason. If it is a condition that affects a large enough population, that would in turn mean better economic returns for drug developers. This is what happened with Covid-19, when the whole world and science turned its might in trying to overcome the situation. But the field and market are considered unprofitable when it is caused by a rare disease as the return on investment might not be so lucrative or attractive.
This is also why for certain rare diseases like spinal muscular atrophy we have exorbitantly priced medications costing Rs 16 crore. In rare diseases, families often feel cursed as they are almost always socially isolated, as nobody around them understand their situation. Even when Zolgensma (the Rs 16 crore wonder drug) was given, the babies would still need multiple specialists for providing expert care, and both geography as well as finances are often obstacles here.
I hope that we will move to a world where there is increased value for life and there is more hope, help and support for these remarkable and amazingly brave families who fight a daily battle.
Here’s to our patients who inspire us daily to continue doing what we do, all while teaching us the true value of life: to live in the present.
As told to Pragna L Krupa
One Response
Very well written.