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.

More than 1 million Indians have been taken ill by the COVID-19 virus, but what has been the human cost on an extremely vulnerable section of the country’s population – people living with rare disease? The first episode of ‘1 in 20,000’ Season 2 – Rare Lives – delves on the pandemic and its impact.  Hosted by Avantika Shrivastava, this episode features the experiences of Dr. Dipanjana Datta, a genetic counsellor and West Bengal coordinator for the Organisation of Rare Diseases in India, and Dr. Apurba Ghosh who is the Director of the Institute of Child Health in West Bengal.  This season has been made possible from a grant by the Thakur Family Foundation.

ये पॉडकास्ट भारत सरकार,आर्गेनाईजेशन फॉर रेयर डीज़ीइस इंडिया और विश्व स्वास्थय संगठन दिशा-निर्देश पर आधारित है। यह उनके लिए लाभयदायक है जो आश्रित व्यक्तियों की देख भाल कर रहे हैं या दुर्लभ रोगों से झूंझ रहे हैं । पॉडकास्ट में दिया गया ईमेल आई.डी. है: [email protected] (mailto:[email protected]) ।  वेबसाइट है www.mygov.in (http://www.mygov.in/) ।

This special episode of 1 in 20,000 features  George Estreich, author of 'Fables and Futures:  Biotechnology, Disability, and the Stories We Tell Ourselves'. In a candid conversation, Estreich discusses the inspiration behind his work, his now teenage daughter Laura, who was diagnosed with Down Syndrome and what he has experienced of disability through her. He also shares his thoughts on how social expectations make people with disabilities vulnerable, and what could be done to protect them. About the book: How new biomedical technologies—from prenatal testing to gene-editing techniques—require us to imagine who counts as human and what it means to belong.

The final episode of 1 in 20000 touches upon the legal rights of rare disease patients. In this conversation with Advocate Ashok Agarwal, who practices in the Delhi High Court, we get a glimpse of the distance India still has to go on securing a life of dignity for them. For more stories like this, you can listen on www.sunoindia.in (http://www.sunoindia.in/) . Also follow us on Facebook (https://www.facebook.com/sunoindia.in) , Twitter (https://twitter.com/SunoIndia_in) or Instagram (https://www.instagram.com/sunoindia.in) .

Genes are the building blocks of our bodies and are responsible for the diversity of physical and other characteristics found in humans. They are incredibly complex for us to understand, but geneticists and the scientific community are developing new ways to sequence them, thus determining the exact ways in which genes create life. Everybody is unique, has its own needs, and this is true for the bodies of people with rare conditions too. A whopping 80 per cent of rare illnesses are genetic in nature causing lifelong health complications. In this episode, Dr Deepanjana Dutta, a genetic counsellor, traces the gene story. She discusses what we know about genes until now and how medical cures are developed. She also shares her experiences of counselling people who have had to face not just medical but social challenges since genetics is little understood in the country and diversity in the body is often unwanted. For more stories like this, you can listen on www.sunoindia.in (http://www.sunoindia.in/) . Also follow us on Facebook (https://www.facebook.com/sunoindia.in) , Twitter (https://twitter.com/SunoIndia_in) or Instagram (https://www.instagram.com/sunoindia.in) .

A family is changed forever when a loved one is diagnosed with a rare disease. In this episode, Mr Iftikhar Zia discusses his experience of raising a son with a rare disease, how his family became close-knit as a result, and the joys they have experienced in spite of chronic challenges.

We all want empathy, understanding and love, but how do these play out for people with rare diseases? In this episode, listen to a seldom heard perspective of an able bodied woman Sangeeta Goyal and her choice of partner who uses a wheelchair. She shares her journey of being a couple, and their trials and joy.

What is it like to live with a rare condition? In this episode, Mr Vipul Goyal gives a peek into his world, the time he was diagnosed with muscular dystrophy, how he turned his struggle into a strength and what made him contribute to the lives of people with rare conditions. He is currently a co-founder of the Indian Association of Muscular Dystrophy.

In this episode of 1 in 20000 Avantika speaks to Mr. Prasanna Shirol, the founder of ORDI, a rare disease patient care and advocacy organization.