As usual, my 10-year-old little friend walks into the outpatient today brimming with a lot of “stuff” to tell me. I notice the lilac nail polish on her fingernails. In her excited, tween-mood, she tells me how happy she is to get back to school after the COVID-hiatus and about her new dance videos. I met her for the first time when she was 20 days old. She had a bleed in her brain and was referred for evaluation of coagulopathy. She later was diagnosed to have Factor XIII deficiency which is an extremely rare disease that makes her prone to bleeding. We soon started her on monthly plasma/cryoprecipitate infusions. A few years later, her father found the means to import clotting factors through his employer insurance. Now she gets one injection every 6 weeks that helps prevent these bleeds. At each visit along with the usual management discussion, we share a bit of life, love and happiness. I join her parents in being proud of her achievements.
This is one of the few perks of managing children with chronic diseases. We were not taught this in medical school. That we will “bear a million young ones” and walk with them in their journey. That we will welcome them into our professional and personal spaces. I have realized that there is a pattern to this. So much so that I can predict it before it happens. At the first visit, there is usually a doubt regarding the diagnosis and an angst about what lies ahead. Nowadays, I don’t wait for them to ask me “Why did this happen, doctor?” I tell them it’s nobody’s fault. It is not because you fed the baby wrongly. It is not due to an evil eye, wrong parenting or because you did not rest well during pregnancy. It is not because of “sasural-wale or maikke-wale”, vaccination given or some medicine prescribed by a poor GP for a cough a few days ago. It is just a play of genes. Like some have crooked noses or brown eyes. Unfortunately, these genes will remain with us for life in most cases. This is our “new-normal”. The challenges in most benign chronic diseases I treat are the same; whether it is thalassemia, haemophilia, marrow failure or primary immune deficiencies. Cure is available for a few; care and comfort however can be given to all.
After a few initial visits, we get to understand the family dynamics. Who makes decisions, how keen are they to follow instructions, how happy are they with our team and so on. For some, the search for a magical cure lasts for a few months. Some understand early that they need to adhere to treatment and that the team’s advice is in their best interest. Some read and worry a lot. The problems are similar for families who join us midway. The process might be different from their earlier centre; treatment goals are the same.
And at times they get fed up. Caretaker fatigue is real. You recognize it when they start faltering in their visits. At times there is desperation. “Will I get a break from this disease?” They need to manage this disease along with the burden of life we all shoulder. The father of a hemophilic kid committed suicide last year. Another five-year-old lost his dad to COVID. To be the only parent of a child with a chronic disease is an insurmountable challenge. The lost look on the mother’s faces lasted many months. At times in a busy OPD, it is difficult to talk to them and give them courage and strength to carry on. Like all of us, they learnt to adapt. I wonder how many new-normals we will create. We laugh at their joys too. There are special requests to keep them “healthy” during the wedding season, exams and games. A hemophilic boy with joint bleeds told me last week that I should ensure that he dances at his sister’s wedding. Another girl with immune deficiency brought us sweets, from her sister’s wedding. She remained infection-free thanks to the immunoglobulin we gave her just before the wedding. We celebrate birthdays, new siblings in the family and academic achievements.
Much of this was not possible a few years back. These diseases were not only rare, but invisible to most. International Rare Disease Day is celebrated on the last day of February each year. The challenges in these diseases include reduced awareness, poor access to diagnosis, unavailability and the outrageous cost of treatment. In the last few decades, the field of rare diseases has undergone a remarkable change in our country. The WHO defines rare diseases as those debilitating lifelong diseases that have a prevalence of 1 or less per 1000 population. The most commonly reported among these disorders are hemophilias, thalassemia, sickle cell anemia, primary immunodeficiencies, lysosomal storage diseases, cystic fibrosis, muscular dystrophies and many more. The National Policy for Rare Diseases was revised and issued by the Government of India in 2020 which gives guidance towards improving the diagnosis and treatment of these diseases. With the concerted efforts of all stakeholders, there is better awareness, access to diagnosis and affordable treatment.
International Rare Disease Day is celebrated on the last day of February each year. The challenges in these diseases include reduced awareness, poor access to diagnosis, unavailability and the outrageous cost of treatment
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When I entered this profession more than one and a half decades ago, the treatment for haemophilia was not available even in the national capital for free. Patients had to purchase imported medicines and many resorted only to blood or plasma transfusions. Most were disabled, many contracted HIV from untested plasma and many died before adolescence. In thalassemia, the only iron-chelating drug which reduces the iron that gets built up in their bodies from repeated transfusions used to be very costly and beyond the scope for many. Even today, for most tier 2 and 3 cities, the diagnosis of these diseases needs referral to a tertiary care centre. Primary immune deficiencies, another disease in this group was unheard of in our country 2 decades back. Is it because children were not born then? No. The prevalence of these diseases is not limited by geographic boundaries. They were born and then they died. They died of common infections and nobody asked why. We as a country are so drowned by diseases of “public health concern” such as tuberculosis, malaria or HIV that to think of these rare ones, let alone support their diagnosis and treatment was considered a prohibitive luxury. We have come a long way since then. There is a national policy for these diseases and many more in this spectrum. The exorbitant costs of most of these diseases have been taken care of by the government through schemes such as the National Health Mission, Rashtriya Arogya Nidhi and the CSR Initiative of Coal India. These are diseases where we can be proud that as a nation, we provide equitable healthcare for all.
What also helps these children are patient support organisations. Most of them are run by people who have or had children with these diseases. It is a phenomenal effort to bring people together and become their voice. We have realized that their voices are loud. These days, we have common medical conferences for doctors, patients and providers. We have also realized that even in “cutting edge technology” what matters eventually is patient safety and preference.
All my new families learn from my older families; this is called ‘anticipatory guidance’. We learn from the “seniors” how they faced a problem, adapted their response based on the situation and how they overcame it. We encourage families with the same condition to meet and interact. This helps immensely. For a young couple with a baby having thalassemia, the anxiety to face life, stigma of the disease and the stress to handle their own marriage is often colossal. Many marriages break due to the blame-game of who brought the genetic disease into the family. In this scenario, when you meet other families, who have gone through the same issues a few years back and can share “tried and tested” solutions, it is beyond relief. As simple as it may seem, even issues like how the bathe a child with a bleeding disorder, what to feed, how to apply for school entry, how to tackle schools who demand certificates from parents that they will not be responsible for “anything untoward” during school hours, how to apply for benefits from the government, which centre has the best physiotherapist, which one provides safe blood … the list goes on and the advice generated is a force multiplier. In many situations, the parent of an older kid is more knowledgeable than my new resident or nurse. As a young doctor, I have learnt so much from older parents in patient groups and it helps me in counselling the new ones. The sensitivity to handle a chronic disease family is a wisdom that cannot be taught. When to be gentle, when to be firm, when to encourage and when to give them hope; is one of the life lessons for a doctor in this field. It is also heartening that there are older kids who have emerged as role models and are pursuing careers of their choice. They get benefits for school education, board exams and disability reservation for higher studies and jobs. Many of them chose to work or volunteer further for their “blood siblings”. These patient organisations also try to bridge gaps in care, if any. At present many hemophilic children giving board exams in the country are receiving clotting factors as prophylaxis so that they do not have a major bleed during exam time. During COVID, many thalassemia organisations worked blood hard to motivate donors, issue travel passes for them and even provide travel support for children with thalassemia.
There are still miles to go on this rare path. Many families still have to travel days to reach a treatment centre. Many have permanent organ or limb damage by the time a diagnosis is finally made. Many haemophilics are mentally retarded or disabled because of a brain bleed that went unrecognized. Many thalassemics and hemophiliacs get hepatitis infection from untested blood or plasma transfusion. Many of them die before adulthood due to organ damage. Many primary immune deficiencies die in infancy even before they are diagnosed; making the disease truly rare. Even now, we diagnose multiple children in the same family with the same disease, just because nobody informed them that these genetic diseases can be prevented.
On the other hand, with a little bit of hand-holding, many go on and do well in their professional and personal lives. These days, the opportunities for a reasonable life ahead are decent. Our job is to make them strong enough to fight their battles alone. Like a parent. As cliched as it may sound, life is like a train journey. People join and leave us randomly. What matters is what we do with the time we have together.
The writer is Associate Professor and Head of the Department of Pediatric Hematology-Oncology, Post-Graduate Institute of Child Health, Noida. She serves as the honorary secretary of the Pediatric Hematology-Oncology Chapter of Indian Academy of Paediatrics, the largest body of medical care providers for children with blood diseases and cancers in the country. The views expressed by her are personal