Lara and Albert Pastura were enjoying a family trip of a lifetime to Italy when their grandson Alex had a seizure.
The couple had no idea at the time that this would mark the start of a six-year journey to get answers.
Mr Pastura said they were sitting in a cafe having breakfast when Alex, who had just turned one, let out a “terrible cry”.
“He started having a seizure. He turned blue. And then I started resuscitating him because I didn’t know any better,” Pastura said.
“So we called an ambulance and he was rushed to the hospital, and that’s when our world changed.”
The Connells Point family spent 18 days in an Italian hospital as doctors tried to control their seizures.
“He started having several seizures a day. They sedated him to calm him down for a few days, then put him on anti-seizure medication,” Ms Pastura said, adding that they had to stay in Italy. for several weeks and needed a doctor. to take them home on the plane.
At the time, doctors told the family they believed her seizures were the result of an underlying cause – something Ms Pastura had raised with doctors at home.
“We had been worried for a very long time. Whether it was the instinct of the mother or the fact of having an older child, I knew that Alex was not developing at the same rate as other children,” he said. she declared.
Ms Pastura thought that once home, finding the cause would be fairly straightforward, but it ended up taking six years and only happened after seeing pictures online of a child with facial features. very similar to Alex’s.
“I woke up one morning with messages on my phone. It was a link to a Facebook page where a mother had a nice description of caring for a disabled child and [the resemblance to Alex] was strange, ”she said.
After researching the disease on Google, Ms Pastura contacted a geneticist they had seen in the past, who arranged for genetic testing, and Alex was eventually diagnosed with an extremely rare condition, Nicolaides Baraitser syndrome.
There are only four children in Australia with this condition, which causes intellectual disability, poor muscle tone, growth problems and the main concern – epilepsy.
Although there is no cure or cure for the syndrome, Pastura said having a diagnosis allows them to better manage the disease, “and not to fly blindly.”
The family decided to get involved with Jeans for Genes a day after learning that a birth defect or genetic condition would affect one in 20 children in Australia.
This year Alex, now 8, is one of the faces of Jeans for Gene Day on Friday August 6, which raises funds for vital research being conducted by the Children’s Medical Research Institute.
“I think it’s very important that research be funded because genetic diseases are so common, even if you never realize it until it happens to you or someone you love,” said Ms. Pastura said.
“We are really lucky that Alex’s epilepsy is very well controlled with medication.
“He goes over the dose, so we have to keep increasing it and he has occasionally had seizures.
“The drug can also cause liver damage, so we don’t know how long he can take it.
“We know we are lucky because for so many children that we know, their epilepsy cannot be controlled with a single drug or even a combination of drugs.
“And it can be terrifying for their families when there is simply nothing that will help these crises stop.”
While Gene Jeans Day events such as the planned city breakfast have been canceled this year due to COVID-19, Ms. Pastura said the family, which includes her daughter Sophie, 12, will don their jeans. And she called on others to do the same to raise awareness and fundraise for research into genetic diseases.
“We are so grateful that research in previous generations has brought us to the point where we are now able to get a diagnosis and then explore treatments and hope for new and better treatments,” he said. she declared.