Imagine being on the other side of the world, on the trip of a lifetime, dining in an Italian café – when your baby turns blue, has a seizure and you have no idea what is going on.
This was the experience of Lara and Albert Pastura not long after their son Alex was born in 2012.
Alex, now aged 8, is one of the faces of the 2021 Jeans for Genes campaign which raises funds for the vital work being done in the labs at Children’s Medical Research Institute. The ongoing pandemic over the past year has shown the critical importance of research and its ability to change the world. Imagine what would be possible for the 1 in 20 kids facing a birth defect or genetic disease - if we all invested in research.
"We’d had a lovely European holiday and our final stop was Sicily for a family wedding,"
Albert said they were enjoying breakfast when Alex 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. “So, we called an ambulance, and he was rushed to hospital, and that’s when our world changed.’’
The family spent weeks in hospital, and even then were unable to fly home because of the seizures, trying to work out what was wrong.
“The main concern of the doctors at that time was to get Alex stable on epilepsy medication to be able to get him safely back home,’’ Lara said. “And we assumed that once we got home, we would be able to go through some more testing. And naively thought that pretty quickly we would have an answer as to what was wrong with Alex and be able to solve it.’’
They were completely unprepared for it to take six years for a final diagnosis and to stumble upon the answers by seeing photos online of children with very similar facial features to Alex.
Alex has an extremely rare condition known as Nicolaides Baraitser Syndrome. There are only four children in Australia with this condition which includes intellectual disability, low muscle tone, and growth issues, but the main concern is epilepsy.
“We are really fortunate that Alex’s epilepsy is very well controlled with medication,’’ Lara said. “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.’’
They have become involved in Jeans for Genes because they now realise how common genetic disease is, impacting 1 in 20 children.
“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.
"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. And that's something that we really must continue to do. So that we can benefit more and more people going forward.’’
With your help we can make a difference for future generations. Jeans for Genes Day is on Friday August 6th, but you can donate any time of year! Sign up to raise money, volunteer or learn more JeansForGenes.org.au