For many families, Christmas is a time filled with laughter, twinkling lights and joyful memories. But for some, the season looks a little different. For three-year-old Abigail and her family, Christmas has always carried an extra layer of meaning, a reminder of just how precious life can be.
Abigail is one of more than 400,000 children in Australia living with a rare disease. Anyone who meets her for the first time might notice she’s small for her age, but behind her bright smile is a strength far greater than her tiny frame. While the cheeky preschooler is now thriving thanks to her medication plan, her start to life was anything but easy.
Born during the 2021 COVID lockdowns, Abigail entered the world via an emergency caesarean after doctors noticed she had stopped growing. She spent her first three weeks in the Neonatal Intensive Care Unit (NICU) before finally making it home just in time for Christmas. Her parents, Adrienne and Aaron, hoped their hospital days were behind them. But just a few weeks later, everything changed.
One afternoon, Abigail became unusually lethargic and stopped feeding. “I called my mum and dad who tried to reassure me everything was okay,” Adrienne recalls. “But a few hours later, she turned blue.”
Paramedics and doctors at their local hospital resuscitated Abigail, but her condition remained critical. She was urgently transferred by the Newborn and paediatric Emergency Transport Service (NETS) to the Paediatric Intensive Care Unit at Sydney Children’s Hospital, Randwick.
Adrienne remembers those terrifying hours vividly. “I was in shutdown mode, just going through the motions. I still remember the doctors telling me to be prepared because they didn’t think she was going to survive the night.”
After an MRI scan, doctors discovered Abigail’s pituitary gland was smaller than usual. She was diagnosed with hypopituitarism – a rare, lifelong condition where the body doesn’t produce enough of the critical hormones needed for growth, metabolism and overall health. Without medication, the condition can be life-threatening.
While a diagnosis was a step in the right direction, Abigail’s doctors had never seen her specific genetic mutation, meaning there was no clear roadmap for treatment.
Today, thanks to ongoing care and groundbreaking research across the Sydney Children’s Hospitals Network, Abigail is thriving. Her energy fills the room as she twirls to Emma Memma or cheers for her beloved Swans, and her family are endlessly grateful for every milestone she reaches.
“Abigail will need medication for the rest of her life to help control her metabolism, blood pressure and growth,” Adrienne says. “While her condition is rare, she is stable; some families aren’t so lucky.”
This Christmas, as families across Australia gather around the tree, many sick kids will spend the holidays in hospital instead of at home. But with your support, we can help change that.
Your donation to Sydney Children’s Hospitals Foundation’s Christmas Appeal can help provide world-class care, fund groundbreaking research, and give more children the chance to grow up healthy and strong so they can spend future Christmases where they belong, surrounded by family, laughter and love.
Please, give today to change the future for kids like Abigail.