Newborn baby dies from rare genetic condition which scans failed to pick up

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3 days ago

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."