By her first birthday, small but mighty Abigail had received care from many of the expert clincial teams across Sydney Children's Hospitals Network. Sydney Children's Hospitals Foundation provides important support for these teams to help them provide the very best care for children like Abigail. To help other families access the same extraordinary care, now and into the future, her family walked City2Surf in 2022 for “Team SCHF” and raised over $7,000 for sick and injured kids across NSW and beyond.
This year, Abigail’s family are continuing their efforts as proud patient ambassadors of “Team SCHF” and gearing up for another City2Surf on Sunday 13 August 2023.
“The pain of doing City2Surf is nothing compared to what these sick kids can go through. So many families need help – we experienced this first hand and our daughter is now home and doing well because of the care we received,” says Abigail’s proud Mum, Adrienne.
(Pictured: Team Abigail the Brave at the City2Surf finish line on Bondi Beach, 2022)
In early 2021, amidst the uncertainty of lockdowns and a global pandemic, Adrienne and her husband Aaron received the wonderful news that their first embryo transfer was successful and their little girl Abigail was on her way.
At 20 weeks pregnant, Adrienne’s sonographer referred her to the cardiology department at The Children’s Hospital at Westmead to investigate a possible heart defect. It’s here that their long healthcare journey began. While thankfully Abigail’s heart condition wasn’t too concerning, doctors were alarmed that her growth was quite slow and restricted, so delivered her early via an emergency caesarean at 37 weeks.
“Our local hospital initially thought she had late onset sepsis so put her on a ventilator and transferred her to NICU. It was then we first met the angels at the Newborn Emergency and paediatric Transport Service (NETS), not realising we’d need them again so soon...”
(Pictured: Abigail being transferred by NETS).
Abigail was treated and discharged just in time for Christmas, which Adrienne can only describe as “amazing.” The doting new parents thought their days spent on the wards in NICU were behind them, until she progressively started eating less and experienced an urgent medical episode at home.
“One day, Abigail was quite lethargic and wasn’t responding well. I called my mum and dad who tried to allievate my anxiety and worries, but a few hours later, Abigail turned blue.”
Paramedics and doctors at their local hospital resuscitated Abigail, but with her condition still critical, the team at NETS were called in for an emergency transfer to Sydney Children’s Hospital, Randwick (SCH).
“I was in shutdown mode, going through all the motions. I still remember the doctors telling me to be prepared because they didn’t think she was going to survive the night. No one knew what was going on.”
An MRI on her brain revealed her pituitary gland was not producing enough critical hormones like cortisol, growth hormone and thyroid hormone. The lack of cortisol also led to Abigail experiencing adrenal insufficiency which was caused by the condition Hypopituitarism. Without medication, this can be life threatening. The critical discovery provided Abigail’s multi-disciplinary team with the answers they needed to save her life but the cause of her rare condition was still unknown.
Further testing revealed Abigail had a genetic variant that is known to be associated with her condition however, the variant was only in one copy of the gene – something that has not been seen at the hospital before.
The incredible genetics team at SCH turned to colleagues internationally, searching for more information and similar cases, to help devise the very best long-term treatment plan for Abigail.
(Pictured: Abigial in Intensive Care at Sydney Children's Hospital, Randwick).
After 5 weeks in intensive care, Abigail returned home where she belongs and while she is on regular medication, she is now doing incredibly well. The cheeky one-year-old loves watching Dorothy the Dinosaur from the Wiggles and last year conquered City2Surf’s notorious heartbreak hill from the comfort of her pram.
Looking back, Adrienne and Aaron say they’re forever grateful to the extraordinary clinicians who cared for Abigail in those critical moments.
It’s thanks to the generosity of SCHF supporters that we were able to fund two senior positions in the Gene Therapy Research Unit at Sydney Children’s Hospitals Network to help transform the lives of children with rare genetic conditions, like Abigail.
“We are incredibly honoured to help give back as a patient ambassador for “Team SCHF” and go all in for kids’ health at this year’s City2Surf, says Adrienne.”