Ellie's Smile


Ellie Margaret Topliff was born on 7th February 2013 to parents Catherine and Joel who were beyond in love with their little girl that they had waited so long for. Ellie was developing normally until they noticed that she stopped reaching her milestones and even started to lose the abilities she had previously learnt. She was otherwise happy, healthy, and was always smiling. Still, they felt something wasn't right and an appointment was made with a paediatrician. Upon seeing Ellie, the paediatrician admitted her to Nambour Hospital immediately and from there she was transferred to Royal Brisbane Children's hospital for testing. After days in hospital Ellie was sent home to await results. She was able to celebrate her 1st Birthday at home with loved ones but 6 days after her 1st Birthday they were called back to Royal Brisbane and given the devastating and heartbreaking result. Ellie had Tay-Sachs Disease.


Tay-Sachs disease is a very rare, inherited disease caused by an abnormal gene. People with this abnormal gene do not have an important enzyme that helps to break down a fatty material called ganglioside GM2. This material builds up in the brain, and eventually damages nerve cells and causes neurological problems.

Tay-Sachs disease is an autosomal recessive inherited disorder, meaning a child inherits one copy of the abnormal gene from each parent. The parents do not actually have the disease, but carry the Tay-Sachs gene and pass it on to the baby.

In its advanced stages, the disease causes a gradual loss of vision, deafness, seizures, respiratory problems, gradual paralysis and dementia. The life expectancy of a child with Tay-Sachs Disease is anywhere between 2 – 5 years of age.

There is no cure nor is there any treatment available.

Our main focus is to ensure that Ellie is as comfortable and happy as possible and to make the most out of every moment we have with Ellie, to create everlasting memories and to enjoy her beautiful, infectious smile.
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Liz Wilson-Barnett 
Noosaville QLD
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