To anyone looking on, little Ellie Topliff is a gorgeous little girl. Just look at that beautiful smile. But Ellie has Tay-Sachs disease, a rare and life shortening neurological disorder.

Ellie’s radiant one-year-old smile still lights up the world of her parents Catherine and Joel Topliff but they are suddenly dealing with the reality that all too soon, one of the rarest of diseases will take their once bubbly, babbling daughter from them.

For six months after she was born on February 7 last year, Ellie Margaret Topliff was their bundle of absolute bliss.

“And then she started decreasing, she can’t hold herself up any more,” Catherine said.

“Luckily she can still smile – she still babbles a bit. She can still grab stuff a little bit.”

Losing their precious baby’s developmental milestones alarmed the Topliffs enough to see a paediatrician.

Ellie was admitted to Nambour General Hospital and transferred to Royal Brisbane Children’s hospital for tests. Six days after Ellie’s first birthday, the Topliffs were given the heart-breaking diagnosis – their daughter had an incurable and extremely rare condition called Tay-Sachs Disease. This extremely rare disease causes material to build up in the brain, damaging nerves.

“If we can just get the word out there that there are such things like this to make people more aware of it, that would be great,” Catherine said.

Tay-Sachs disease is a fatal inherited (genetic) disorder of the central nervous system.

Infants with the disorder appear to develop normally for the first few months of life, then at about the age of six months of age, a deterioration of mental and physical abilities begins. The child stops smiling, crawling or turning over, loses their ability to grasp or reach out, and gradually becomes blind and paralysed. It affects both male and female babies.

If both parents carry a copy of the faulty gene then there is a 1-in-4 (25%) chance that the child will inherit the faulty Hex-A gene from both parents. This child will be affected by Tay-Sachs disease.

The chance remains the same for each pregnancy and there is no cure without research.

With more than one in four of us expected to suffer from a brain disease or disorder at some time in our life and with more and more children suffering from brain disorders, research is vital to provide us with more information, treatments and cures.

The Brain Foundation is Australia’s largest independent funder of brain research. We provide grants to Australian researchers in all areas of brain disease, disorder and injury.

The Brain Foundation relies significantly on fundraising and community support to make a difference to the lives of children such as Ellie.

Please donate to the Brain Foundation and help find a cure for diseases such as this.