Sophia
When Sophia was born and diagnosed with one of the most common genetic diseases in Australia – her mum couldn’t believe that her lifespan may be less than 40 years.
“When we first got told that she had markings of cystic fibrosis (CF), the first thing the doctor said to me was, do not go to Google,’’ mum Sarah said. “Obviously, that made me want to Google more.
It told us that her life expectancy would be 37 years which was hard to take - that was only 10 years older than I was at that time."
Sophia is one of the 2025 faces of Jeans for Genes the iconic fundraising day that supports the labs at Children’s Medical Research Institute so scientists can do work today that changes lives tomorrow.
Born early and very small, Sarah thought Sophia was being a typical newborn when she would not feed properly and struggled to gain weight. The last thing she expected was to find out that the heel prick test results showed Sophia had CF.
“It was a shock. We obviously never knew what cystic fibrosis was, so it was a whole world of learning what it was, how it would affect her and what life would then look like."
Sophia does daily physiotherapy, takes dozens of tablets with all her food, and must avoid simple childhood illnesses like a cold or flu.
“With an illness like bronchitis, for a normal child, that might just be a dose of antibiotics, a couple of days home from school. For Sophia, that could potentially mean a hospital admission with intensive antibiotics through the IV drip and a fear of how it could damage her lungs that is irreversible. That’s what could impact her life expectancy."
Treatment for CF has come a long way with most Australian children now taking daily medication – but the dream is a cure!
Professor Leszek Lisowski, the lab head at CMRI's Translational Vectorology Unit, is working on a gene therapy for CF which would mean one injection to correct the genetic error.
“It was amazing going into the CMRI and meeting the scientists and seeing the work that they're doing,’’ Sarah said.
I remember doing Jeans for Genes when I was at school but now it’s so close to my heart and it means so much to us."
Jeans for Genes is one of Australia’s oldest charity days and this year it will move to the first Thursday in August – after finding that many of our capital city streets and offices are quiet on a Friday.
It may be on a different day but the challenge of finding treatments and cures for 1 in 20 Aussie kids with conditions like cancer, cystic fibrosis and other devastating genetic diseases remains the same.
Jeans for Genes Day allows labs to stay open, science to continue and lives to be saved.
Sign up now to fundraise your own way. You can Bake it Blue with a cake stall, do walking, running, skipping, or any form of exercise you like – or simply wear jeans just like millions of Australians have done for more than 30 years.