As first-time parents, Jacqueline and Chris had simple dreams for their future – a house filled with happy and healthy kids. Then everything they thought parenthood would be changed.
When Emilia was born, her parents felt something wasn’t right from the beginning. She constantly fed, but milk went right through, so she struggled to gain weight. She cried and struggled to sleep, but as first-time parents, Jacqueline and Chris were told to be patient.
“I remember we were sitting on the couch, and it was three in the morning, and we put her to bed about four or five times, and we thought, something's not right.We had five weeks of that. No sleep. We were just getting through.’’
One morning, a nurse called to say that Emilia’s newborn screening results had come through and she had tested positive for cystic fibrosis. Both parents were carriers and yet neither of them knew. Both their older siblings had healthy children.
“It was such a shock,’’ Jacqueline said. “When your child gets diagnosed, you also get a weird diagnosis at the same time. Everything you thought parenthood would be changes. I remember our nurse saying to us, ‘just do us a favour, don't Google it, the life expectancy is so low’.’’
Chris said they immediately had to adapt to waking to medicine and physiotherapy, then more medicine before every meal, getting use to a nebulizer, and adjusting to a child who wasn’t allowed to do all the everyday things that most kids take for granted.
“Everything changed, I guess the plans that you have for your family and kids. You think we’ll have a family and she'll grow up healthy, she'll have all the opportunities that life can offer. And I think it really hits home when you start getting information that, no, this is her every day. I think the first 10 months of this diagnosis was just us at home with Emilia, a child with a chronic lung condition in a pandemic, that affects the lungs. Needless to say, we were a little stressed.’’
One of the hardest aspects for parents of a child with a genetic disease is the guilt of unknowingly passing that gene onto their child.
“That guilt is hard some days,’’ Chris said. “You know when you're sitting there and she's screaming because she doesn’t want to do a nebulizer, or she doesn’t want to sit still and do physio, or she just wants to go outside, and you just need a moment to go, this is our reality. And it's hard because often people don't see that side of a genetic condition"
"No matter what happens every single day, this is what they have to do. It's not a matter of choice. There's no choice in this.’’
The family have met Associate Professor Leszek Lisowski from CMRI who is doing work into the possibility of using gene therapy for cystic fibrosis. It is hoped that, one day, a single injection could correct the gene mutation.
“Jeans for Genes for us is hope,’’ Chris said. “The reason it’s hope is because we're at a stage where research is making leaps and bounds, particularly in the genetic field. We've gone to the clinic, we've seen the researchers, you can see how far it's come even in the last 10 years. We want to work with Jeans for Genes so that genetic conditions can be a thing of the past.’’
Jeans for Genes Day is on Friday 5th August this year. Sign up now to start fundraising or donate any time at JeansforGenes.org.au