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A proud sponsor of the Rare Find Foundation
Rare Find Foundation is the first of its kind in Australia and exists to improve the lives of those living with Tay-Sachs and Sandhoff diseases through support, information, and advocacy, as well as to support the research of these conditions to help find a cure.
Tay-Sachs and Sandhoff are rare genetic diseases and those affected suffer a relentless deterioration of mental and physical abilities. The most common form is infantile, with an average life expectancy of 4 years old.
There is no current cure.
The Foundation was founded by Anna Pak Poy and husband Marc Coupar following the passing of their son, Sebby, from Tay-Sachs disease in 2019.
Sebby’s story
When we had Sebby, like so many parents Marc and I dreamed about the future and life we could help shape for our beautiful son, and how we could support him in every way possible. We never considered that would mean supportive care and we didn’t think he would be taken away from us by a rare disease.
The first six months were spent in beautiful naïve bliss. Sebby happily reached all his expected milestones, he was enchanted by the world around him and charmed everyone he met. Then, when he was 6 months old, Marc and I did an ancestry test, purely for genealogy intrigue. Alongside this you can access a health report, which shows if you’re a carrier for a number of conditions, Tay-Sachs being one of them. We learnt that both of us were in fact carriers and that meant Sebby had a 1 in 4 chance of being affected.
The odds were in our favour and Seb showed no obvious signs of being anything other than a healthy and happy baby. However our lives were devastated forever when, a few weeks later at just 7 months old, we learned that Sebby was affected by the infantile form of Tay-Sachs. Sadly, Sebby passed away in March 2019 aged 22 months. Sebby is a sparkly, charismatic treasure who continues to inspire many with his spirit and courage.
Tay-Sachs is a cruel and brutal disease and watching your child go from a happy, bouncy baby to regressing physically and cognitively is something that no person can be prepared for and something that you can never recover from. The grief is overwhelming and has been a part of our lives since the day of diagnosis. But we have lovely memories with Sebby which we will cherish forever.
Through our own experience of diagnosis and living with Tay-Sachs disease, I saw that there was a real gap in support in Australia. Building on my professional experience as a company owner, I was inspired to start Rare Find Foundation in 2019.
It’s too late for our Sebby, but we want a world where there is more awareness of these conditions for preventative screening and, ultimately, a cure.
Anna Pak Poy
Sebby’s Mum & Rare Find Foundation Founder
