SHOCK DIAGNOSIS: Joel and Catherine Topliff with their daughter Ellie, who has a very rare illness called Tay-Sachs disease that has no cure. The family needs to raise $10,000 for an airway clearance device.
SHOCK DIAGNOSIS: Joel and Catherine Topliff with their daughter Ellie, who has a very rare illness called Tay-Sachs disease that has no cure. The family needs to raise $10,000 for an airway clearance device. Anya Maria Photography

Baby with super rare disease has fight to live

SIX days after Ellie Topliff's first birthday, she was diagnosed with a very rare disease.

Catherine and Joel Topliff, from Tewantin, were told their little girl had Tay-Sachs disease.

Ellie is the couple's first child and was a long time coming as Catherine suffered from polycystic ovaries syndrome - a common hormonal disorder that makes falling pregnant difficult.

"When Ellie came along she was a little miracle and so begun their long-awaited journey of starting a family," close family friend Lisa Page said.

Ellie hit all of her age-appropriate milestones - she ate well, was growing well, laughed and giggled.

"She was the apple of her parents' eye," she said.

"Just after six months her parents noticed she would gradually stop doing some of the things that she had previously learnt.

"They kept a close eye on her and monitored her movement.

"When things didn't pick up, Ellie had an appointment to see a pediatrician at Nambour Hospital.

"She was immediately admitted with doctors scrambling for answers. She was taken to Brisbane for intense testing and the family was sent home to await the results."

In its advanced stages, Tay-Sachs 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 between two to five years of age.

"The disease has no cure, nor is there any treatment available," Ms Page said.

"It's devastating news. Since being diagnosed early this year her parents have had to learn about Tay-Sachs and so have her doctors.

"It is extremely rare and there is only one other child in Australia with the disease."

Ms page said Ellie's body now created thick secretions which were difficult to remove, causing choking and lung difficulties.

The family is now saving and trying to raise money for the $10,000 Vest System, an airway clearance device for children and adults.

The Brain Foundation, Zinc FM and Twin Waters Golf Club are holding a corporate charity golf day on August 29 to raise money for the vest.

The competition is a four-person ambrose with prizes for overall winners as well as longest drive and closest to the pin.

The cost is $550 for a team of four or $137.50 per person and you will be placed in a team. Registration and payment is due by Friday, July 25, to info@brain foundation.org.au.

A family fun day was also held at Noosaville Lions Park yesterday.

For more information visit http://www.facebook.com/elliessmile.

 

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