‘We watched our child die in slow motion’: An Adelaide mum joins with Kate Ellis to help others

When you lose a baby from a brutal disease you “can’t unsee what you’ve seen, unknow what you know” — but we can try to bring relief to another family, says a remarkable Adelaide mum.

Adelaide MP Kate Ellis with Anna Pak Poy with a photo of baby Sebby, who was diagnosed with a rare, terminal illness at seven months. Picture: Tom Huntley

As 22-month-old Sebby Pak Poy Coupar’s life slipped away “piece by piece”, there was nothing his heartbroken mum or dad could do but wrap their precious firstborn in love and warmth.

“We watched our child die in slow motion, it sounds really brutal but that is what it was for us, there are no words to describe it — it was devastating, absolutely heartbreaking,” mum Anna says.

“There was nothing we could do but cradle our beautiful son to make sure he felt as much love as possible.”

The Adelaide tot died in March, 15 months after being diagnosed with a rare neurological genetic disorder, Tay-Sachs disease.

“We had six months of naive bliss, Sebby was a vibrant and engaged child who was hitting all his milestones … we dreamed about all the things you do as a parent, the future you can make for your child.,” Anna says.

Sebby’s diagnosis was only made after Anna, 37, and Marc, 44, who were living in the UK at the time, did an ancestry test, “purely out of genealogy intrigue”.

As part of that, they’d ticked a box that offered a health report and discovered they were each carriers of Tay-Sachs, a condition neither had heard of.

Six weeks later after more tests, it was confirmed Sebby had the devastating disease that affects just one in 180,000 babies and leaves its tiny victims with a life expectancy of 18 months to four years.

Anna Pak Poy with a photo of baby Sebby. Picture: Tom Huntley

At about 10 months signs of the illness began to present in baby Sebby.

“Sebby held up really well for a long period of time but when it hit, it hit really hard — he had his first seizure at 14 months and from there his regression started quite hard and fast,” Anna says.

“The symptoms and the affects of the condition are horrible, it is everything from losing the ability to swallow, to the loss of vision, mobility and cognitive abilities, so by the end it is a poor quality of life.”

In Australia, unlike Europe and the US, there is no national disease or patient registry to allow families to connect with each other, ensure patients receive the most up-to-date care and support, or for medical professionals to get guidance and advice on therapy and treatments.

It is for this reason Anna, expecting her second baby in October — a little girl which screens have shown is clear of the disease — with the support of former high-profile Labor frontbencher and Member for Adelaide Kate Ellis has established the Rare Find Foundation, to be launched in Adelaide on Monday.

Women’s and Children’s Hospital neurology and clinical neurophysiology department head, Dr Nicholas Smith, also sits on the inaugural board.

Anna met Ellis while she was still an MP when baby Sebby was seriously ill, a similar age to Ellis’ youngest son Charlie, now two.

“The only thing that could be sadder than having a terminally-ill baby is not getting every support and the most up-to-date medical opportunity available … with Sebby and Charlie being a similar age, I could really relate and empathise with Anna,” Ellis says.

“Having seen Tay-Sachs take our darling son’s life piece by piece, we know how isolating it feels – I can’t unsee what I have seen, I can’t unknow what I know, it is so unfair … our mission has to be supporting those affected by these relentless, cruel diseases and to find a cure,” Anna adds.

The 10.30am launch, at Ayers House, is open to the public.

Originally published as ‘We watched our child die in slow motion’: An Adelaide mum joins with Kate Ellis to help others