Alex Pastura of Connells Point is the face of the 2021 Jeans for Genes Day campaign

Jeans for genes: The Pastura family are pulling on their jeans for medical research. Picture: Supplied
Jeans for genes: The Pastura family are pulling on their jeans for medical research. Picture: Supplied

Lara and Albert Pastura were enjoying a family trip of a lifetime to Italy when their baby son Alex suffered a seizure.

The couple had no idea at the time that it would mark the start of a six-year journey for answers.

Mr Pastura said they were sitting at a cafe enjoying breakfast when Alex, who had just turned one, let out a "god awful scream''.

"He started to have a seizure. He went blue. And then I started to resuscitate him because I didn't know any better,'' Mr Pastura said.

"So we called an ambulance and he was rushed to hospital, and that's when our world changed.''

The Connells Point family spent 18 days in an Italian hospital while doctors tried to control his seizures.

"He started to have multiple seizures a day. They sedated him to calm him down for a few days then started him on anti-seizure medication," Mrs Pastura said, adding they had to remain in Italy for several more weeks and needed a doctor to escort them home on the plane.

By that time, doctors had told the family they believed his seizures were the result of an underlying cause - something Mrs Pastura had raised with doctors at home.

"We had been concerned for a really long time. Whether it was mother's instinct or having an older child, I knew that Alex was not developing at the same rate as other children," she said.

Mrs Pastura thought once home, finding the cause would be fairly straightforward, but it ended up taking six years and only came about after she saw photos online of a child with very similar facial features to Alex.

"I woke up one morning to some messages on my phone. It was a link to a Facebook page where a mother had a beautiful description of caring for a child with a disability and [the resemblance to Alex] was uncanny," she said.

Raising awareness: Alex Pastura is the face of this year's Jeans for Genes campaign. Picture: Supplied

Raising awareness: Alex Pastura is the face of this year's Jeans for Genes campaign. Picture: Supplied

After Googling the condition, Mrs Pastura contacted a geneticist they had seen in the past, who organised genetic testing, and Alex was finally diagnosed with an extremely rare condition, Nicolaides Baraitser Syndrome.

There are only four children in Australia with the condition, which causes intellectual disability, low muscle tone, growth issues, and the main concern - epilepsy.

While there is no treatment or cure for the syndrome, Mrs Pastura said having a diagnosis allows them to better manage the condition, "and not be flying blindly".

The family decided to become involved in Jeans for Genes day after learning that a birth defect or genetic disease will affect one in 20 children in Australia.

This year, Alex, now 8, is one of the faces of Jeans for Genes Day, on Friday, August 6, which raises funds for vital research being carried out by the Children's Medical Research Institute.

"I think it's very important for research to be funded, because genetic diseases are so common, although you never do realise that until it's something that happens to you or someone that you love," Mrs Pastura said.

"We are really fortunate that Alex's epilepsy is very well controlled with medication.

"He does outgrow the dose, so we have to continue increasing it and he has had breakthrough seizures occasionally.

"The medication can also cause liver damage, so we don't know how long he will be able to take it for.

"We know that we are fortunate because for so many children that we know of, their epilepsy is not able to be controlled on a single medicine or even on a combination of medicines.

"And it can be terrifying for their families when there's just nothing that will help those seizures to stop.''

While Jeans for Genes Day Day events such as the breakfast planned for the city have been cancelled this year due to COVID-19, Mrs Pastura said the family, which includes daughter Sophie, 12, will be slipping on their jeans. And she asked others to do the same to raise awareness and money for research into genetic conditions.

"We are so grateful that research in previous generations has brought us to the point now where we are able to get a diagnosis and then explore treatments and hope for new and better treatments," she said.

Details: You can donate to his fundraising efforts here.