Charlize’s Metabolic Fundraiser raises $49,000 for Children’s Hospital Westmead to help kids with rare genetic disease propionic acidemia

Devoted members of a Theresa Park family are fighting back against a rare genetic disease and have raised more than $49,000 so doctors can help their daughter Charlize and other children with the condition

Charlize, Jule, Amelia and Paul Gravina, of Theresa Park, are keen to help researchers help children with the rare genetic disease.

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DEVOTED  members of a Theresa Park family are fighting back against a rare genetic disease and have raised more than $49,000 so doctors can help their daughter Charlize and other children with the condition.

Parents Julie and Paul Gravina have raised the funds through the Go Fund Me campaign called Charlize’s Metabolic Fundraiser.

The donation is also in memory of Charlize’s twin Isaac, who died in January this year.

The money will help scientists at The Children’s Hospital at Westmead find new treatments for the genetic disease propionic acidemia.

The couple’s twins Isaac and Charlize were born with the disease, which affects one in 250,000 births in NSW. Sadly Isaac died in January.

Surviving twin Charlize is now 2½ and the family hopes research funded by the donation will help her and other children lead a normal life.

Mrs Gravina said the donation was also in memory of Isaac.

“We are very proud to be able to deliver the funds to the metabolic department because if it was not for these people, Charlize would not be here with us,” Mrs Gravina said.

“Children with these metabolic diseases have a missing enzyme and are born perfect but over time the disease wreaks havoc on their bodies and we want to do everything we can to help these children so they can have a normal life.”

Supporters join members of the Gravina family at the cheque presentation at The Children's Hospital, at Westmead to fund research into genetic diseases.

The hospital’s metabolic team will spend the funds on more resources, research and treatments and ultimately save more children.

Due to the disease, Charlize is unable to break down proteins properly and is fed through a nasal tube.

The disease causes acids and harmful substances to build in her body which then affects every organ, as well as muscles and tissues.

There is no cure. Hospital genetic metabolic disorders service staff specialist Dr Kaustuv Bhattacharya said the generous donation would enable the team to further research into new treatments and hopefully, one day, help find an answer to these devastating diseases.

“We see around 60 new children every year with rare conditions like Charlize’s that, as of yet, have no known cure,” Dr Bhattacharya said.

“We do our best to manage these conditions but it is only with research that we are able to continue making progress.”

ILLNESS EXPLAINED

■ Propionic acidemia affects one in 250,000 births in NSW

■ The body can’t process proteins and fats properly

■ It causes abnormal levels of toxins to build in the blood and tissues