Ryan
Two-year-old Ryan may have an extremely serious genetic disease, but his parents will never let him feel like a victim.
It was only days into Ryan’s young life when Laura first became concerned about his health. He lost weight very quickly, but it wasn’t until he was five weeks old that Laura’s fears were realised.
“I felt like something was wrong,’’ Laura said. “We got a phone call from the hospital to say that his newborn screening had come back, and he had one gene for cystic fibrosis and so he either may be a carrier, or he may have the condition so that they needed to test him more. I remember that phone call, I started hyperventilating.
“From that moment that was the start of my kind of grieving process. I knew from then, I guess that our lives were going to go in a different direction to what we thought they were going to go.’’
Laura admits, like most young parents, genetic diseases were not something she knew much about. She had to quickly learn all about cystic fibrosis and how to manage it for Ryan.
“I knew it was to do with the lungs, I had no idea it was to do with any other organs as well and I didn’t know how they got it,’’ she said. “All I knew was that it was to do with the lungs and that the breathing wasn’t great so yeah, that was all I knew.’’
Ryan must have a lot of daily treatments, including medication and a nebuliser plus physiotherapy and his parents are very focused on making sure Ryan lives as normal a life as possible.
“My husband has had to sit down on numerous occasions and kind of weigh up, ‘okay well how much of this do we protect him from, how far do we go with letting him be like an everyday regular kid’ and then also kind of trying to protect him a bit more, so there’s always that fine balance.
“He’s not a victim, he has cystic fibrosis but that’s not who he is. That might be an element to his genetic makeup but he’s so much more than that."
“Ryan’s just like a regular kid, he’s a gorgeous boy, he has such a big heart and we’re just so desperate to just not let him be a victim of this.’’
Laura holds out great hope for work that is being done in gene therapy, at places like Children’s Medical Research Institute, which could help children with cystic fibrosis.
“I think every parent’s worst nightmare is that they lose a child and so it’s really heart-warming to know that there’s so much support for them.
“I am a firm believer in educating yourself about not just one condition but numerous and ploughing as much resource as we can do into that to have better outcomes for everyone because you just don’t know if it’s going to be you sitting at the other side one day, hoping that other people are out there supporting you. We certainly didn’t think we’d be in this position but here we are.’’
“My understanding of gene therapy, for what it means for me and for Ryan, it that it will change his life. He would not have CF anymore."
"For CF, they have to have one faulty gene from the mum and one faulty gene from the dad, but they only need one gene functioning correctly to cure it. So, if they can do that and correct the one gene with the gene therapy and alter that code in his genes, then he would just be walking around like every other kid, not have to do anything, no problems whatsoever and yeah, that’s the dream really."
Learn more about cystic fibrosis here.