In August, a 25-day-old baby boy was diagnosed with two severe rare diseases – Pompe and Spinal Muscular Atrophy- at the specialised rare disease centre of JK Lone Hospital in Rajasthan. A baby with two rare illnesses is possibly the first such reported case in the world.
This episode features the interviews of Dr Priyanshu Mathur, a pediatrician at the JK Lone hospital, who treated the baby, and another parent in Uttar Pradesh whose children have been diagnosed with Spinal Muscular Atrophy.
The episode delves into why correct diagnosis of rare diseases is so important, and how diagnosis and timely treatment are hard to secure for parents.
This season has been made possible from a grant by the Thakur Family Foundation.