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.

<div>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.<br><br>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.<br><br>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.</div>

There are more than 7,000 documented rare conditions in the world. While there is no known cure for some conditions, where there is a cure (or maintenance through medicines is possible), the cost of medication is exponentially high to bear. This podcast will focus on the status of rare conditions in India, which has been talked about very little in Indian society. It will be a one-of-its-kind attempt in India to document the gamut of challenges and achievements of people with rare conditions and will open a constructive dialogue on what can be done. This is important because an estimated 1 in 20 Indians are affected by a rare disease. The series will bring out the human face behind rare conditions – the patients, the families, caregivers, doctors, activists and geneticists working to improve life for people with rare conditions.

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