As a paediatric nurse Jessica had cared for all kinds of sick children, but despite her medical experience she was not prepared to become the parent of a child with a genetic condition. Leo was born on International Nurses Day in 2017 and came home on Mother’s Day. When he was seven days old, parents Jessica and Timo’s world changed forever.
“We got a phone call from the paediatrician asking, ‘Was he feeling well? Was he waking appropriately? Was he crying?’ Then he mentioned that he had screened positive for MCAD deficiency. And I was so confused. I knew that metabolic disorders could be very serious.’’
Leo, now aged 4, 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.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a metabolic disorder. Leo’s body cannot break down certain fats to convert into energy. If his blood sugar levels drop it can lead to coma or death. Already the parents of a healthy daughter, Jessica and Timo were shocked to discover they were both carriers for the gene that causes MCAD deficiency.
“We started to look internally, we're thinking - genetic disorder, what have we done to him? That was a huge thing for us in the beginning, you can’t not blame yourself. It’s really only recently as we’ve started to manage it that we are trying to stay positive for Leo.’’
Common childhood illnesses can be very dangerous for Leo. A simple cold, or vomiting illness often means a trip to hospital. “We often set multiple alarms because if we slept through an alarm and it goes to four, five or six hours when he’s sick without his medicine, it can affect his organs very quickly,’’ Timo said. Jessica was a long-term supporter of Jeans for Genes, as a nurse, buying a pen or badge but now the family is more heavily involved, seeing that 1 in 20 children are impacted.
“Gene therapy is extremely important for metabolic disorders,’’ Jessica said. “Knowing that one day we won't have to worry if he's missed a meal, or if he becomes unwell”. “Knowing that one day there could be a cure, and that we could forget all about MCAD deficiency is really exciting.’’
Leo’s family have become more involved in Jeans for Genes because they now realise how common genetic disease is, impacting 1 in 20 children.
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