Informal family care in the context of genetic disorders
By Namitha Kumar
Complex genetic/rare disorders usually manifest in infancy (though some disorders manifest in early childhood or even adulthood). These complex disorders involve hereditary factors and can take up to 7-8 years to diagnose in the Indian context. Genetic disorders can be autosomal dominant (single defective gene received from either parent like Duchenne Muscular Dystrophy or Huntington’s) or autosomal recessive (two copies of defective genes from parents who are carriers like in thalassemia). Since parents are almost always unwittingly responsible for the genetic condition, there is always a strand of guilt associated with genetic disorders. Parents and families usually experience severe guilt at the time of diagnosis. In a country like India, there are very few genetic counseling services and such a lack leads to complex emotions playing out within families with blame games and a sense of family shame.
Complex genetic disorders imply lifelong treatment and critical care at the right time, without which there is a high chance of morbidity. Caregiving begins with the diagnosis as parents and families embark on a search for a cure or if no cure is available, at least possible treatments. Meanwhile, the child needs constant care and supervision both in hospital while receiving treatment as well as at home. In India, caregiving usually falls to the lot of women in the family like the mother, aunts, grandmother. While the women care for the child, the men are left to network and interact with doctors and researchers trying to either find a cure or treatment protocols. This gendered role plays out in almost every family, where there is a child with a genetic/rare disease.
I will outline my own case tracing the trajectory of caregiving and care receiving beginning with my diagnosis of thalassemia at the age of 4. In the early 80s, there was practically no concept of “paid care” in India. Usually families employed a helper to provide some sort of assistance to the mother or grandmother or whoever was looking after the child. I was primarily cared for by my mother and paternal grandmother, while my grandfather met a number of doctors and genetics researchers both in India and abroad to see if a cure was possible. Thalassemia involves regular blood transfusions to stay alive along with iron chelation infusions via pump at home. It meant being subject to several infections, low immunity, and other complications often requiring short periods of hospital stays. Every blood transfusion was painful and it was the lot of my mother, aunts, and the extended family to comfort me during the hospital stays. Family and friends took turns during lengthy hospital stays. Caring for me was a duty in the family as it was understood that familial genes was responsible for this condition and nothing much could be done, except provide the best care and treatment.
Within the family, as a child I was happy to be cared for by many people. The bonds of affection were strong and I never had a sense of dependence as a child. I almost took it as a right to be cared for because the family members usually did whatever I asked. If I asked for certain kinds of food during hospital stays, they ensured that I got it. However, I reiterate this is not the case for many children with thalassemia, who are regarded as a burden and do not get the comprehensive caregiving required to grow into fairly healthy adults. Lack of care and a careless attitude has led to many deaths among children with thalassemia. I was fortunate to be in a family where I was given diligent care and support. A family with adequate socioeconomic capital is an important factor in supporting the needs of any child with a genetic disorder. Looking back, the care received during my childhood was almost bi-directional as it fulfilled a need for both parties. People in the family seemed to want to care for me and do things for me as it brought them a sense of purpose. There is much to be learned from caregiving for a child with thalassemia and family members soon learned to detect early warning signs of medical issues and could predict when I would become weak and require the next blood transfusion. My mother, grandmother, and grandfather worked in tandem towards one singular goal and purpose – to see me successfully into adulthood. During caregiving, there were many ups and downs, hopes were raised, hopes were dashed, sometimes there was a light at the end of the tunnel, and so on. My aunts were usually on the constant lookout for some new therapy or medicine that could improve the quality of my life. Other family members usually reported anything new they found in journals, magazines or TV news.
While a child with thalassemia requires a fair amount of caregiving, 24/7 care is not required as is the case with other complex genetic/rare disorders like muscular dystrophy or Tay Sach’s. Children as adults with thalassemia are mobile and able to care for themselves sufficiently, and manage going to school, college, and taking on careers fairly independently. Caregiving is required during blood transfusions, infusions, sickness and hospital stays. Childhood requires deeper caregiving slowly tapering off with approaching adulthood.
The years between diagnosis and approaching adulthood are a physical and emotional strain on caregivers as well as on the child with thalassemia. The absence of public health infrastructure for caregiving and total lack of caregiver support impacts the quality of the caregiver’s life and health. Practically no training is given to a caregiver on how to manage a child with thalassemia. Giving injections, managing medications, sick day protocols are all trial and error. Painful mistakes are often tolerated by the child.
The cusp of leaving childhood and entering adulthood brings new challenges as we no longer want to be dependent on caregivers. Our culture which once emphasized interdependence has now moved to a culture of individualism and autonomy. To be dependent on someone is seen in a negative light. Amid this culture, I grew up with the idea that I can soon take care of myself. At the first chance, I took control of all my medication, making lists and reminders to make sure that things go smooth. Peer pressure in high school and college to be “independent” pushed me to take the reins of healthcare into my own hands. Just after my Master’s degree before I moved into the professional sphere, I learnt how to do my own infusions and operate the pump. I was then ready to go anywhere without having to depend on anyone else for lifesaving injections. Though there were a few painful trials with errors, I was satisfied that I had learnt to take care of my medical needs on my own. While I have now moved away from the care receiving role for my genetic condition, I still receive care from the family when I fall sick. This temporary care receiving is different from the sort of care received during childhood and early adulthood. During sickness, there is a definitive movement and purpose in caregiving towards restoring health and some semblance of the normal. The purpose is shared by care receiver and care giver.
Receiving care has its own complexities and at some point leaves the person with a feeling of inequity, lack, and disempowerment. People receiving care are usually not consulted in decisions relating their own care and this can be disempowering. Up to a point in time, I felt supported with care but after a point it became disempowering because I would have to let go of several decisions. In countries with strong public health systems, caregiving services are professionalized with the state providing support. Caregiving then does not become solely relegated to the family members. This brings some relief to those who provide care to chronic patients. Unfortunately, India does not have any public health support for caregiving activities and currently caregiving is a commercial activity with pay-for-services. For those who cannot afford such services, family is the only resort.
Interdependence is a characteristic of human society. Interdependence exists even in nature and among animals. Yet, in human cultures, interdependence is devalued. Devaluing interdependence results in disability oppression and scant regard for those who need elevated levels of care. Until India reaches a stage where public health is strengthened and caregiving support is provided by the health system, we will continue with a pattern of receiving care solely from family members.
Namitha Kumar received a PhD in disability and psychology from the National Institute of Advanced Studies in 2016. She is the Research director of a healthcare not-for-profit, Centre for Health Ecologies and Technology and Member of State Rare Disease Policy Drafting Committee. Works with state and its Health agencies to improve healthcare access and delivery for rare disease communities in Karnataka. Head of Advocacy and Patient Rights, Thalassemia Society Karnataka. Namitha has keen interest in the working of public policies in ensuring health equity and justice.
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