Debbie Le Court De Billot, 40, knew something was wrong with her son from the moment he was pulled from her body during an emergency caesarean at just 34 weeks.
"They took him away instantly. I didn't get to hold him, I didn't even get to look at him. The most I saw was when they pulled him out and held him up," she tells 9Honey.
"I started to think something was going on when they said to my husband, 'You need to come with us'. They took my husband and I was left alone, getting stitched up by myself."
The traumatised new mum was wheeled into recovery, scared and alone, with no clue what was happening to her newborn, Lorenzo, who had been rushed to the neonatal intensive care unit (NICU).
Struggling to breathe, the tiny boy was floppy and limp but doctors couldn't piece together why.
"That night when I went and looked at him, they said he was having trouble breathing, he had an immature lung but I thought it was just because he was premature," Debbie says.
A scan two days earlier had revealed Lorenzo's growth was restricted and he was in the breech position, which was when doctors realised "something was really wrong".
They decided it would be safer for everyone to get Lorenzo out quickly, but Debbie couldn't have expected how traumatic the delivery would be.
"Obviously I was scared, but I felt like, 'Once he's out and we can see him and we know everything's OK, it'll be fine'. It just got scarier from that point really," Debbie says.
Lorenzo's symptoms were far from normal, even for a premature baby, and after nine hours of testing he was flown from Rockhampton to Brisbane via helicopter in a desperate bid for answers.
That news would have been terrifying for any new mum, but the most soul-crushing part was that Debbie wasn't allowed to go with him.
"I still hadn't held him at that point, I hadn't held my newborn baby at all. The most I'd done is touched his hand through the hole in the incubators," she recalls.
Her husband, Adrian Le Court De Billot, went with Lorenzo while Debbie waited for a flying doctor plane to transfer her to the same Brisbane hospital four agonising days later.
Finally in Brisbane, Debbie held Lorenzo for the very first time when he was five days old.
"He wouldn't cry, he didn't look at me¡ it was pretty traumatic," Debbie adds, and doctors still had no clue what was wrong with Lorenzo despite MRIs, lumbar punctures, and frequent blood tests.
When doctors finally landed on a diagnosis almost four weeks later, neither Debbie nor her husband had ever heard of the disease. Nor had the doctor who told them.
"That was in 2020 during COVID-19, so my husband wasn't in the hospital with me when I received the diagnosis. I was alone again," she says.
"I was taken into a room with a doctor who knew nothing about the syndrome. He just handed me a piece of paper and said 'this is what he has'."
Lorenzo was diagnosed with Prader-Willi Syndrome (PWS), a rare genetic disorder that can cause physical, mental and behavioural problems.
Debbie turned to Google to learn more, only to be flooded with outdated information and confronting stories about the insatiable hunger that affects almost every PWS sufferer.
Families have been forced to lock up pantries, fridges and entire kitchens to stop their children eating themselves to death and some sufferers have gone so far as consuming uncooked food to try and satiate their hunger.
"You read everything you can and it doesn't help, it just makes it a lot worse," Debbie says.
What she found online left her terrified about Lorenzo's and how his condition would affect her, Adrian and their family, including her stepkids.?
"Can I actually do this? Do I want to do this? As awful as that is, it's the reality of how people feel. You just don't know what to do," she admits.
Connecting with other PWS mums slowly helped her get her head around Lorenzo's diagnosis, but it also highlighted some concerning symptoms doctors seemed to miss during her pregnancy.
Lorenzo was her first child and throughout the pregnancy she had a niggling feeling that something was wrong.
At ultrasounds they struggled to get a clear picture of him and she didn't feel him move very often while pregnant, but doctors reassured her that everything was fine.
"I was dealing with the grief of the life that I thought we would have."
"It was always just this feeling that something may not be right," she recalls.
"But I'd had so many times at the hospital where I got checked and they sent me home. You get this false sense that it's going to be okay."
That revelations about her pregnancy, as well as Lorenzo's traumatic birth, their subsequent separation and his scary diagnosis left Debbie struggling to bond with her newborn son.
In a matter of weeks the life she had planned for her child had been wrenched out from under her and the new mum was facing a daunting future.?
"I was dealing with the grief of the life that I thought we would have and the baby I thought I would have. I grieved that baby while still having this baby," she confesses.
Lorenzo wasn't discharged from hospital until he was eight weeks old, by which time Debbie and the rest of the family had relocated to Brisbane, near the best specialists and medical care.
PWS is incurable and as a spectrum disorder, it presents differently in each patient so there was only so much Debbie could do to prepare for Lorenzo's future.
Now, almost three years after those traumatic first weeks, she's in a place she never expected; Lorenzo's a funny, cheeky toddler who appears to many as just a normal boy.
"Coming from a place at the beginning where you're so worried and scared and then just having this two-year-old boy who just changes it all, it's definitely different now," Debbie says.
"I don't see him as his diagnosis, I see him as Lorenzo, and we just take it every day as it is."
The insatiable appetite, also known as hyperphasia, hasn't affected Lorenzo yet but Debbie knows that "constant starvation" phase of the disease will likely take hold in the future.
For now Lorenzo's life revolves around medical appointments and therapies to manage the other physical and developmental symptoms of PWS.
"It affects so many different parts of the body that you have to see so many different therapists; physio, occupational therapist, exercise physiologist, dietician, speech therapists, paediatricians, endocrinologists, respiratory, all of those," Debbie reveals.
"We'll just love him as much as we can and that's what'll get us through."
Though there's financial support through the NDIS, life with a PWS child is emotionally and mentally taxing on their family. Debbie's husband has been her rock through it all.
"He said to me from day one, we'll just love him as much as we can and that's what'll get us through. He's gotten us through it as a family," she adds.
"I thought I didn't want to do this, but I now know that I can do it and Lorenzo's so amazing."
Despite her initial struggle to bond with Lorenzo, he's now Debbie's best friend and she's doing everything she can to give him a bright future.
That means pushing for research funding to develop better treatments or even a cure for PWS, adding that it's their "only hope".
Working with the Prader-Willi Research Foundation of Australia, Debbie is calling on Aussie families and businesses to donate in support of the foundation's 'Giving Day' on November 16.
For those that can't donate money, Debbie begs that they lobby the government for funding to find a cure for the rare disease.
"We need government funding, that's the big thing. It's just not fair that these kids have to live like this," she adds.
A cure is still a far-off dream, but for Debbie any developments will make a difference in her son's future.
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