Age 6, Cystic Fibrosis
When young parents Sarah and Carmelo learned their child had a genetic condition, they feared for his future – but when they discovered what medical research is doing about it, they gained new hope.
“When you get a phone call from the paediatrician saying, ‘your son is testing very high for cystic fibrosis’ the first thing you do is Google it. And when you type in ‘what is cystic fibrosis’, and it says you have a life expectancy of around 25 years… The first thing I did was burst into tears and threw up.’’
Sarah and Carmelo were first time parents when Joseph was born. He didn’t feed or sleep well but his parents didn’t worry too much until they got a call about his newborn screening results.
But medication exists to treat patients with cystic fibrosis, and luckily for Joseph, he has only ever been hospitalised once. He does require daily treatment and must avoid high risk environments.
“We are blessed that Joseph is actually on track now,’’ Sarah said. “We always hoped that one day when he's older, he might not have to have CF, that maybe there would be a cure. So, the future is always bright.’’
Hope has grown even more as the family heard about CMRI’s research into gene therapy for CF. This could mean that one day a simple injection could provide a cure.
“We're the lucky ones, I guess. There are other kids that are way more sick,” Carmelo said.
“And when we went to the Jeans for Genes research facility and learned about gene therapy – it’s amazing to think that not only could it help Joseph and kids with cystic fibrosis, but a lot of other genetic diseases.
“When you donate to Jeans for Genes you are not just curing one disease – you could be curing many.’’
Associate Professor Leszek Lisowski
Children’s Medical Research Institute scientists, Associate Professor Leszek Lisowski (Head of CMRI’s Translational Vectorology Unit), Dr Andrea Perez-Iturralde, and Research Assistant Kimberley Dilworth, are part of a team working on gene therapy tools to treat cystic fibrosis.
“When it comes to developing a cure for a devastating disease like CF, it takes three critical components: dedication, money, and the team," said Liswoski.
"We have got the dedication and now we very much need the financial means to push the research forward. But, we now have an unstoppable team working closely together. We hope that for children born with CF, our dream of a CF-free future, will one day become a reality.’’
Dr Andrea Perez-Iturralde said they hoped that by the end of this project they would be able to begin studies to inform a clinical dosing and delivery strategy conducted by clinical colleagues at the children’s hospital.
“My deep concern for the impact of incurable disorders, particularly on children, fuels my strong motivation to make a meaningful difference,’’ she said.
“After working with Leszek on a project that is currently progressing towards clinical applications, I am eager to replicate that success in the realm of cystic fibrosis."
Watch Joseph's Story
How research is helping kids with cystic fibrosis, like Joseph
Our world-leading gene therapy research is developing the tools and technology to treat more of the over 6000 genetic diseases affecting children.
Your support of Children’s Medical Research Institute by participating in Jeans for Genes makes all this and more possible.
