Jeans for Genes Day: Millie’s Story.
Jeans for Genes Day is a charity that Highview has been so happy to be a part of. Our awareness and passion to support this wonderful cause was sparked by a personal journey that was bravely shared by our team member, Terri Holt. A journey we felt should be shared further in an effort to educate our community on how this fundraising can make a real impact.
Millie’s Story
Terri and husband Brendan welcomed their first daughter, Millie into the world in 2014. The moment she was born, an unnerving sense of concern filled the air. Millie was extremely lethargic, floppy, darker in complexion than expected and would not feed well. Medical staff were highly concerned but had no suitable diagnosis that fit Millie’s symptoms. Immediate blood tests were performed, but came back inconclusive, so she was transported to The Royal Children’s Hospital for urgent specialist attention from the endocrinology team.
Millie had a multitude of tests, while Terri and Brendan waited in sheer disbelief and fear of the unknown. With the specialists swiftly taking control of the situation, providing phenomenal care each step of the way, they were able to accurately determine a diagnosis. Millie was diagnosed with Adrenal Insufficiency, a rare and life-threatening genetic condition. One every 200,000 babies born are diagnosed with Adrenal Insufficiency, affecting their bodies ability to produce the vital hormone, cortisol. In 2014 this wasn’t a disease tested by the newborn screening tests.
However, thanks to funding from Jeans for Genes Day, this disease can now be detected as a part of the bloodspot screening for all babies born in Australia, alongside other conditions. More recently, the charity’s key focus is to detect conditions early and correct the problem at the source – by correcting the DNA. They are also spearheading new gene therapy initiatives to fill the gaps in Australian medicine with the goal for children facing genetic diseases to change from a ‘diagnosis’ to a ‘cure’ – and these therapy initiatives are affordable and available right here in Australia.
Nine years on, Millie is one happy, confident little pocket rocket!
It’s certainly no walk in the park though. Their daily routine is not simplistic – Terri and Brendan have vital responsibilities to care for and protect Millie’s health and wellbeing. Her condition must be managed with great care throughout each day and night. What would be considered a mild sickness or minor injury to most children, for Millie her body’s response would require immediate emergency treatment.
Despite this, Millie is thriving. “A determined little whirlwind” according to her mum Terri! She lives and breathes footy and wants to be an AFLW Player for Richmond when she is older. Her spunk, aspirations and banter would be enough for anyone to think she was 100% healthy. She doesn’t let the disease stop her from doing anything – she just know to be a little more cautious than most other kids her age.
Please help us in raising life-saving funds for Aussie kids like Millie by donating here: https://fundraise.jeansforgenes.org.au/fundraisers/highview
