The little girl who always smiles

Ellie Topliff turns two in February. It will probably be her last birthday.

The tiny tot is one of only two Australians known to have Tay-Sachs disease, a genetic disorder caused by the absence of an enzyme that breaks down fatty substances in the brain.

Ellie Topliff's godmother has completed an epic bike ride to raise money for the toddler, who has a rare medical condition.
Ellie Topliff's godmother has completed an epic bike ride to raise money for the toddler, who has a rare medical condition. Photo: supplied

As a result of the missing protein, fat builds up in the brain, leading to blindness, hearing loss, seizures, paralysis and eventually death.

There is no treatment. There is no cure.

Between 1995 and 2011 there were 12 recorded cases of Tay-Sachs in Australia.

That means one child in every 353,935 is born with the condition.


The disease is usually diagnosed when a baby is six months old, when development slows then regresses as fatty substances begin to envelop the brain.

Ellie's mum Catherine says she and her husband Joel began to see signs of a problem when Ellie was about seven months old.

"Ellie was always the fastest to develop from early on. There was a group of six of us who had babies about 10 days apart and she would always succeed in her milestones before them," she told AAP.

"Around seven or eight months she stopped rolling, so I said `OK, she is getting ready to crawl' but then she never did.

"And then we were waiting and waiting and waiting."

After visiting their local GP in Noosa, Ellie was referred to a Nambour pediatrician who immediately organised an ambulance and overnight stay at Brisbane's Royal Children's Hospital.

It was there that an ophthalmologist noticed a cherry-red spot on Ellie's retina at the back of her eye.

Alarm bells began to ring.

As the family returned to their Noosa Heads home to celebrate Ellie's first birthday, the team of doctors confirmed their suspicions.

Ellie had Tay-Sachs disease.

"It felt like my whole world just stopped in that moment. My heart was absolutely broken," Ms Topliff said of the moment she and her husband received the news.

"We were thinking worst-case scenarios and in the back of my mind the worst-case scenario was that she was that sick and she would die.

"But I never actually thought the worst-case scenario would happen."

Now Ellie is blind and she requires specialist equipment including a feeding tube.

Yet despite her ongoing battle with the disease, the little girl continues to smile.

"She has always been a very happy little girl. Always loved the water. I think she feels very relaxed and free so she is always giggling when she is in water.

"She absolutely loves music. Her dad sings to her every night and she's always singing."

Recently it's her seven-week-old brother Finn who makes her smile.

"Whenever he is near her she seems to sense that he's there."

For now the Topliff family celebrates each month of Ellie's life like a birthday.

The next one is her 21st.

"We're going to invite friends and family and will have the 21st key. We've got to make the most of every month," Ms Topliff says.

"Ellie's godmother rode from Stanhope, Victoria, to Tewantin RSL on the Sunshine Coast to raise funds for her treatment. For information, visit: www.facebook.com/elliessmile.