Vivek and Kush

Recently, Phil Sansom had a listener called Vivek Singha get in touch...

Vivek - I came across a couple of your tweets and that's why I reached out to yourself.

Phil - Vivek was asking us about testing for rare genetic diseases - in particular a disease called FOXG1.

Vivek - I'm a father of a child who was diagnosed with FOXG1 syndrome. Kush was the first kid in Sydney who was diagnosed.

Phil - In fact this condition, FOXG1 Syndrome, is so rare - and so newly-discovered - that only about six hundred people in the world have been diagnosed.

Vivek - It's a gene on chromosome 14, a small mutation. Causes profoundly debilitating impacts on the kids. One way to look at it is like on a 20 kilometre long piece of string, there's a one millimetre gap; and that one millimetre gap is causing issues for Kush. His early development has been hit really hard. He was diagnosed with cerebral palsy; quadriplegic, so he's unable to control either of his four limbs; his vision, his brain can process the vision he's getting through his eyes, so he's really hit hard from a vision perspective as well; his arms and limbs keep moving all the time, so it's hard for him to voluntarily control his movements. It's a terrible, terrible set of... everything that can go wrong, it's gone wrong with him.

Phil - Vivek’s son Kush isn’t getting worse, but he has had his development delayed. As we spoke, I found out that while Kush is a great kid, things have been really rough - for both him and his parents.

Vivek - When he was diagnosed at a very young age, it took us a long time just to accept the diagnosis as well. Like, I wouldn't wish it on my worst enemy.

Phil - No genetic disease is ever going to be a walk in the park, of course. But as I started looking more into FOXG1, I found out that something about it has inspired Vivek - and others like him - to roll up their sleeves and actually start to shape the course of science. In this programme I meet those people blurring the line - metaphorically speaking - between the brain and the heart.

Vivek - We've got four kids, Kush is the youngest. I want Kush to be able to run like other kids as well.