The parents of a Queensland toddler diagnosed with a rare one in 200,000 genetic disorder has thanked the medical team at Mater Mothers' Hospital in South Brisbane for saving their 'miracle' daughter's life.
Luna Staib was just 48 hours old when doctors at Hervey Bay Hospital ordered her to be urgently airlifted to Mater's Neonatal Critical Care Unit (NCCU) for life-saving care.
Doctors told La Toya Redman and her partner Cameron Staib Luna's condition had deteriorated quickly and she needed to be at a hospital with a neonatal unit.
The couple said their lives turned upside down in that moment and they then drove more than 250km from their Fraser Coast home to be with little Luna.
"When Luna was born, she was floppy and not breathing, she didn't even cry," Ms Redman said.
"So much was going through my mind – I knew she was fighting for her life and I wanted desperately to be by her side.
"Even though she wasn't premature and weighed 3.5kg, to see her like that was heartbreaking – we just wanted answers
"Luna was born at 37 weeks but after expecting to have a healthy baby she was anything but."
When Luna arrived at Mater, doctors discovered she had two holes in her heart and required breathing support.
Ms Redman remembered the moment she was reunited with her daughter and said she was grateful she was alive and "had the best care possible".
Due to the severity of her medical condition, Luna underwent genetic testing which identified she had Kleefstra syndrome, an extremely rare disease caused by the mutation or deletion of the EHMT1 gene.
Babies with the syndrome can have a complex list of medical conditions such as hypotonia, heart issues, lung issues, seizures, vision or hearing impairment.
Hypotonia is a condition where there is too little muscle tone, causing babies to be floppy and having difficulty moving.
"Luna was found to be affected by all of these, making her the severe end of the spectrum," Ms Redman said.
Ms Redman, who has an older son Forest (3), said the multidisciplinary team in the NCCU provided their "little miracle" with around-the-clock specialist care and gave her a chance at life.
"I had really bad anxiety and at times didn't know if she would make it," Ms Redman said.
"The team at Mater helped put my mind at ease by being so caring and supportive of our whole family.
"They kept us up-to-date and informed about her condition, they were fantastic.
"The care we received at Mater was so amazing."
Ms Redman said: "Luna has been through so much in her life, and she has defied the odds time and time again".
After five weeks in the NCCU, Luna was transferred to the nearby Queensland Children's Hospital for heart surgery.
Ms Redman said while her daughter, now aged two, struggles with some day-to-day activities, she is "thriving in her own way".
"Luna is sitting unassisted, something we thought may not happen for a long time," she said.
"She is on oxygen and is tube fed, and she will have a long road ahead, but we are with her every step of the way.
"Luna is phenomenal and I am inspired by her."
Every year, more than 1,700 seriously ill and premature babies have to call Mater's Neonatal Critical Care Unit (NCCU) home, relying on cutting-edge specialist care, life-saving equipment and world-leading research.
To help give little Queenslander's the best start to life just like Luna, Ms Redman is calling on the community to dig deep and donate to this year's Nine Telethon, to be held on 26 April.
To make a donation to the Nine Telethon, visit https://www.9telethon.com.au
