Leaving hospital without a baby: Young Perth mum tells of genetic disorder trauma

Summah was born at 17 weeks and passed away during the delivery.
Summah was born at 17 weeks and passed away during the delivery. Photo: Supplied

"I'm not trying to scare people, I just want people to know about it and be aware it can in fact happen to you, your family or your friends." 

These are the words of a 22-year-old Perth mum, desperate to raise awareness about a rare genetic condition that saw her lose her daughter at 17 weeks into her pregnancy. 

Kristie Porter and her partner Allen Barnsley, 25, were looking forward to finding out the sex of their second child, excited to plan a gender reveal party for their family and friends, when they were hit with devastating news.

Ms Porter said she 'just cried' when she finally had to say goodbye to Summah.
Ms Porter said she 'just cried' when she finally had to say goodbye to Summah. Photo: Supplied

But their beautiful baby girl was at 99 per cent risk of having Trisomy 18 (T18), also known as Edwards syndrome.

Most babies born with the genetic disorder die before birth, with only one in 5000 babies who carry the condition born alive. The chance of a child surviving until their first birthday is not even 10 per cent.

T18 is caused by an error in cell division known as meiotic disjunction, when an extra chromosome 18 is formed causing the developing baby to have total of 47 chromosomes instead of 46.

Professor of maternal fetal medicine at the University of Western Australia Jan Dickinson said T18 most commonly occurred in pregnancies of women over 40 years of age.

"Women are born with a set number of eggs, and as the eggs age, the splitting of the chromosomes in the egg becomes more likely to be abnormal," she said.

"You can see it in young women but that's much less common.

Advertisement

"Other times it just pops up out of the blue for no obvious reason, it's nothing that women do or don't do that makes Trisomy 18."

Ms Porter said she first found out something could be wrong with her baby after a routine scan

"I went to King Edward Hospital (...) and they did a scan which showed some markers and [I was] offered a CVS test [prenatal test that diagnoses chromosomal abnormalities], but that could only give me 98 per cent accuracy and we wanted 100 per cent results, so we opted to wait for the amniocentesis [amniotic fluid testing] and boy that was hard watching my bump grow," Miss Porter said.

Ms Porter and Mr Barnsley took home the ashes of their daughter Summah after spending two days with her.
Ms Porter and Mr Barnsley took home the ashes of their daughter Summah after spending two days with her. Photo: Supplied

She waited until 16 weeks to be viable to take the amniocentesis test, an invasive procedure which involves the removal of fluid from the amniotic sack to detect physical abnormalities.

"[We] had results three days later confirming she had [T18]," Miss Porter said.

"I asked if I could carry her to term and donate her organs to other babies but they said that it wouldn't be likely as T18 is mostly all internal issues with most of their organs."

Professor Dickinson said babies with T18 rarely survive to 12 weeks in the womb.

She said detection markers include the baby being too small, abnormalities in their feet and ankles known as talipes or clubfoot, clenched hands, heart malformations, hernias on their belly button and brain abnormalities.

"Because Trisomy 18 in general is a very severe chromosome problem, nature often knows that and so there's quite a high spontaneous miscarriage rate," Professor Dickinson said.

"Most of the babies will either pass away during pregnancy or die in the first few weeks to months of life, rarely they'll survive to a year of age and very rarely beyond that."

Miss Porter said once it was confirmed her daughter had T18, she was offered a surgical termination.

"After that my partner and I talked so much, researched, and when we got the results and saw the doctor I told him we would intervene but I wanted to deliver her naturally," Miss Porter said.

"It's what she deserved.

"I haven't forgiven myself for the decision we've made even though we know it was for the best for her so she didn't feel pain or suffer, so she only felt love and warmth.

"It's something I'm talking about with a psychologist to try and get through it."

Miss Porter delivered at 17 weeks and baby Summah died during labor on March nine.

"The way I see it is that I had a stillbirth, she looked like a tiny baby, I went through the labour, I delivered her," she said.

"But by law it's not considered that, I think that's why people don't get it."

Ms Porter and Mr Barnsley were given the opportunity to spend two days with their daughter after she passed which she said felt surprisingly natural.

"I didn't cry the first time I saw her, I just loved her," Miss Porter said.

"I couldn't believe how much she looked like a baby, just so small in the palm of my hand.

"The more I saw her though the harder it got.

"I knew it was coming time that I had to leave the hospital and couldn't take her with me.

"I didn't want her to feel alone.I know it sounds silly because she wasn't here, but having to leave her felt like she would need me and I needed her. I just cried," she said.

"Out of all of this it was probably the most traumatic."

Ms Porter and Mr Barnsley will collect Summah's ashes to keep at home.

The young mother wanted to bring attention to the fact that March is Trisomy 18 Awareness Month as she said she had no idea what it was before it impacted her life.

"We know about T21 otherwise known as Down Syndrome but know nothing of T18," she said.

"I'm not trying to scare people, I just want people to know about it and be aware it can in fact happen to you, your family or your friends.

"I'm only twenty-two and my partner and I are healthy and fit and it happened to us."

Madison Snow is a journalism student at Edith Cowan University.

Comments