Advocating for a rare cause 

This episode features a parent who has lost three infant children to a rare illness linked to inborn errors of metabolism caused by enzyme deficiency.  Vikas Bhatia’s ordeal turned him from an ordinary parent to an advocate of securing proper diagnosis and treatment. He and his wife- Poonam Bhatia…

What does a rare family look like?

The life of a rare individual's parent is unlike anybody else’s. Mostly, parents are their children’s primary caregivers till late in the child’s life, and it is likely that they do not have qualified support. Parents thus have to juggle multiple priorities leading to hard decisions. For instance, …

Climbing the job ladder with a chronic rare illness

Adulthood is when one should be able to live independently; when one can earn a living and become self-sufficient. But, should a rare individual have a disability, the severity of the disability can determine whether they can get and hold a job or start something of their own to become self-employe…

Learning the hard way

Education is the foundation on which a person can build their life. But for rare individuals, being able to go to school or college is not a guarantee. Often people with rare diseases have to give up on the dream of education because of challenges that able bodied people cannot even think of. In t…

Quest for blood- How COVID-19 pandemic hurt children with thalassaemia

Thalassaemia is a rare blood disorder which causes the blood to have less haemoglobin. Children suffering from thalassemia need regular blood transfusions- once every fortnight to 20 days. In some cities of the country such as Mumbai and Bengaluru, the children were getting an assured blood supply …

Breaking free from the emotional costs of a rare disease

Over the years, the importance of taking care of one’s mental health has gained more acceptance. In 2020, with the breakdown of more traditional and physical forms of communication, social isolation reared its ugly head. While the pandemic has thrown up serious uncertainties, it has also led to gre…

The pandemic unravels India’s weak disability support system

Persons with disabilities make up over 2 percent of the Indian population. While not all persons with disabilities are rare individuals, rare diseases are chronic and can lead to major disability. Both – rare individuals and persons with disabilities – have needs that are different from the larger …

Parenting a rare child

Being rare is not a death sentence, and nobody can understand this better than a parent of a rare child. In this episode, host Avantika Shrivastava speaks with Tresa Joseph whose daughter has been diagnosed with an extremely rare genetic illness- 9P Deletion. While speaking fondly of the transforma…

Why it is not easy to diagnose a rare disease

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…

The impact of COVID-19 & lockdown on people with rare diseases

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.…