Blood tears, countless benign tumours in vital organs and accelerated ageing were among the 30 rare genetic disorders that a young doctor-in-the-making has mapped across India as part of her research as a Fulbright scholar.
Aditi Kantipuly, who is completing her medical training and a Fulbright Scholar from Johns Hopkins University, has spent the past seven weeks visiting several Indian States and meeting children with genetic disorders.
The documentation of these rare conditions, Ms. Kantipuly hopes, will come in handy in creating a national registry of rare diseases that will not only record each case but will also create ground for allocation of resources for treating these conditions.
For many of the people she met, the cost of treatment was prohibitive and their families were poor. For instance, she met a couple in Agra who had sought euthanasia last year for six of their eight children suffering from a rare neurological disorder, saying they were unable to afford treatment. “The cost of treatment can go up to Rs. 1 crore a year for some conditions or could be even Rs. 4,000 to Rs. 5,000, which is the cost of surgery to treat congenital glaucoma,” Ms. Kantipuly told The Hindu on Wednesday.
Social stigma associated with the diseases was another pattern that emerged in the course of her research. She met a child in Rajasthan suffering from a rare cancer that the family hadn’t shared with anyone and a two-year-old girl in Ranchi weighing 22 kg. “She was suffering from the Prader Willi Syndrome, and when I showed them pictures of other children suffering from the same condition in the country, they realised it wasn’t just their child. A lot of these families live in isolation and believe they have done something wrong,” she said.
In Manipur, she met a mother who blamed herself for trying to kill a snake during her pregnancy that led to her child developing a condition wherein different benign tumours would just keep growing in vital organs. The most fascinating, and also among the most heart-breaking conditions was progeria, she said. Ms. Kantipuly had met 15-year-old progeria patient Nihal Batla before he passed away in May this year.
Some cases, she realised, were intriguing but needed further investigation. “In Mizoram, I met a family where parents said their daughter’s tears were made of blood.
The doctor or I did not witness the blood tears, but it was intriguing because the child’s mother and her aunt also suffered from the same condition; but none of this could be medically diagnosed,” she said.
During her research, she also observed more such conditions where marriages had been performed within families.
Ms. Kantipuly is undertaking her research in collaboration with the Bengaluru-based Organisation of Rare Diseases in India, and says there wasn’t a structured pattern in identifying cases from each State: like the nature of the genetic disorder or the number of patients in a particular State. She also said that the research depended heavily on the accessibility to and availability of families.
She has embarked on a campaign to create awareness of these rare conditions and their impact on patients. Her research also aims to create a platform for patients to connect with each other and seek out healthcare service providers.
Corrections & Clarifications:
The previous version of this story mentioned a child in Rajasthan having crater belly syndrome. it is actually Prader Willi Syndrome. Ms.Kantipuly is a Fulbright Scholar from Johns Hopkins University
