Latest news with #neonatalloss
ABC News
5 days ago
- Entertainment
- ABC News
Newborn baby dies from rare genetic condition which scans failed to pick up
Moments after Dylan and Rochelle Evrard were pronounced husband and wife, they were showered with pink confetti. Cyndi Lauper's Girls Just Want to Have Fun played over a loudspeaker as they celebrated with family and friends. WARNING: This article includes information and images relating to pregnancy loss and neonatal loss, which some readers may find distressing. The newlyweds were expecting their first baby and their Gold Coast wedding in March 2023 doubled as a gender reveal. Rochelle was 22 weeks' pregnant. Milli Rose Remidy Evrard was conceived naturally after years of trying. Rochelle had severe endometriosis — when tissue similar to the lining of the womb grows outside the uterus, affecting a woman's ability to conceive. Surgery paved the way for pregnancy. The Evrards' baby daughter was born by caesarean section in the Pindarra Private Hospital at Benowa, on the southern Gold Coast, about four months after their wedding. Their tiny, much-wanted, baby girl had two broken arms and two broken legs after the delivery. Scans and tests during the pregnancy had failed to pick up Milli had an extremely rare genetic condition, despite Rochelle complaining about failing to feel her moving during the pregnancy. "My whole pregnancy, I was expressing that I was a bit concerned," she said. "I never had a kick count." Within hours of her birth on July 14, Milli was transferred to the Mater Mothers' Hospital neonatal critical care unit (NCCU) in Brisbane. She opened her eyes and locked them onto her dad Dylan as she was placed in an ambulance for the drive north to Brisbane. Milli died in her parents' arms six days later. Amid the grief, they feel blessed they had almost a week with her. "She was beautiful," Rochelle said. "When we touched her, she reacted. She couldn't move her body but her little toes would go or her little fingers. The Evrards' home at Mudgeeraba, in the Gold Coast hinterland, had been meticulously prepared to take their baby home. They had a baby capsule in their car, a baby bath in the bathroom and a nursery decorated in pink. "I remember years ago somebody saying, 'No one ever prepares you for an empty capsule in the car when your baby dies,'" Rochelle said. "When we were in the last day with Milli, I just said, 'Someone needs to go find our car and remove the capsule.' "And so, someone did, and for months I didn't even know who had it and I didn't care but I just did not want to drive home with an empty car capsule." Rochelle was 37 at the time and unsure whether she would be able to have any more children. "Things were not on our side fertility-wise." Before she died, doctors took skin biopsies from Milli for genetic testing. Months later, the tests revealed she had nemaline rod myopathy, a musculoskeletal disorder that affects about one in 50,000 live births. Further testing of both Rochelle and Dylan found neither carried the genetic variant that resulted in Milli's condition. Queensland Children's Hospital clinical geneticist David Coman said her disorder was caused by a mutation in the ACTA1 gene. Rather than being inherited from her parents, Professor Coman said the genetic variant was known medically as a "de novo mutation" — a gene that spontaneously changed at the point of conception or during early cell division. "If you can figure why that happens, you'll win a Nobel prize for genetics," he said. Milli had what was effectively a small spelling mistake in her DNA with big consequences. Her muscles were so weak she had to be put on life support soon after her birth. Professor Coman said her bones were also affected. "Babies who don't move in the womb often have really thin bones," he said. "It's kind of like the equivalent of osteoporosis. It you have surgery, and you lie in bed for six weeks, you lose a lot of bone density." Professor Coman said sophisticated genetic sequencing did not always pinpoint a cause of death, but it was important to try. "In a third of rare presentations, we don't get an answer … so, we do have families that are in limbo," he said. "But for this family and families where we get an answer, even if it's a life-limiting answer, there is still what we call dignity in diagnosis. It gave them information. That's really important for the grieving process as well, an understanding of what happened and why. Armed with the knowledge they had not passed the disorder on to their daughter, the Evrards began in vitro fertilisation (IVF) about four months after Milli died. After a miscarriage and further endometriosis surgery, Rochelle fell pregnant again in September last year. Huey Hendrix Evrard was born in the Gold Coast Private Hospital on May 2. Rochelle, who has a tattoo on her right leg in memory of Milli, admits she struggled through Huey's pregnancy after losing her first-born. "Even though I knew he was healthy, and he didn't have Milli's condition, I just kept saying: 'What if he dies? What if he just dies?'" the 39-year-old said. "I wasn't guaranteed that he was going to be here at the end, and it was very stressful. "At one stage, I was going in three times a week. I was going in very panicked, quite often for reassurance … just into the maternity ward. I'd go sit in there for a few hours. They would check his heart rate and his oxygen and just kind of reassure me." Not even three months into their life with Huey, Rochelle is relishing the constant feeding routine — even the late night and early morning wakeups. "He sounds like a goat in the middle of the night. He's very loud," she said with a laugh. "Last night, we were up probably every two hours, but I just love it. You appreciate it a whole lot more when you didn't have it last time, you really do. "Huey's been very healing — more than I could have imagined."
ABC News
08-06-2025
- Health
- ABC News
Sunshine Coast mother Sarah-Rose Grauf writes book on baby-loss grief
WARNING: This article includes information and images relating to pregnancy loss and neonatal loss, which some readers may find distressing. A Queensland mum has channelled the agonising grief of losing her three-week-old daughter into a book she hopes will help other parents grappling with similar grief. Coolum couple Sarah-Rose and Marcus Grauf are among thousands of Australian parents grieving the loss of their baby — an experience no parent can prepare for. Mrs Grauf spent three weeks in South Brisbane's Mater Mothers' Hospital in September 2023 after her daughter Pixie-Rose was born. While pregnant, doctors had discovered the Graufs' unborn baby girl had CHARGE syndrome, meaning Pixie-Rose was at risk of being born with life-threatening defects because of a genetic mutation. CHARGE syndrome affects one in 15,000 births. The condition CHARGE is an acronym of the most common symptoms — coloboma (missing eye tissue), heart defects, atresia choanae (narrowed nasal passages), restricted growth, genito-urinary problems (affecting urinary organs) and ear abnormalities. Pixie-Rose was born at Mater Mothers' Hospital on September 4, 2023, weighing 2.6 kilograms. It was a natural birth, but she was put straight onto life support. The Sunshine Coast mum said it was "almost impossible" to accept her daughter's death. "As a mother, that's really hard … she looked chubby, she was cute, she looked healthy," Mrs Grauf said. The family was able to spend about three weeks with their much-loved daughter and sister before making the heartbreaking decision to turn off Pixie-Rose's life support. Her siblings had the chance to say goodbye to their baby sister before she died. In a process she's called "pain to purpose", Ms Grauf has now released her book, Secrets to Baby Loss, A Guide for the Whole Family. She said the idea for a book came through the journal she was writing. "When we were stuck in the hospital, I was faced with a lot of different challenges," Mrs Grauf said. "I spoke about it quite openly so I could heal." With no guide to help her navigate her grief, Mrs Grauf went searching for answers. "I couldn't find anything [to help] that grabbed my attention, that was visual, that was unique, that was a step-by-step guide," Mrs Grauf said. As she was holding her dying daughter in her arms, and felt her last breath of air leave her tiny body, Mrs Grauf said she was winded by her own grief. "It was the same breath-work technique I'd used [as an instructor] helping people through trauma," she said. "It hit me quite hard, and I thought to myself, I need to help others, I need to live for her." Mrs Grauf said it was the small things, such as daily breath work, nature walks, Pilates, and swimming in the surf that "saved her". "I believe she was a gift and here for a purpose," she said. Since losing Pixie-Rose, the couple has welcomed another baby. Three-month-old Bear was born on February 13. "Nothing is ever going to replace your child," Mrs Grauf said. (Data from the Australian and New Zealand Child Death Review and Prevention Group)
