During the first months of Lachy’s life, Kate New thought she had just lucked out with a baby that was an exceptionally good sleeper.
Throughout her pregnancy Mrs New only felt “very weak” kicks that were more like butterflies and when she welcomed Lachy in 2015 he would sleep “all the time”.
“When he was a newborn he just used to sleep all the time, and I joined a mother’s group and I remember he would just fall asleep on the floor,” the Sydney mum told news.com.au.
“All the other babies would be crawling over him, and all the other mothers were like, ‘oh my God, is he always like this?’ and I was like (joking back), ‘yeah, parenting is a piece of cake’.”
But as the months wore on Mrs New became worried about Lachy’s sleeping habits, noticing that he was also missing milestones that other babies his age had reached.
“It was around the three-four month mark that we were really like something was amiss here,” she said.
“He was falling behind more and more in his milestones, and he would never bear weight on his feet, he would just sort of curl up like a cat over water.”
Also causing worry for Mrs New and her husband David was the fact that Lachy seemed unable to support his own body and would always feel “like a sack of potatoes” when they held him.
“He never looked me in the eye or made those baby sounds that parents are used to hearing,” she said.
Concerned, the first time parents took Lachy to multiple doctors to try and find out what was wrong, as well as seeing therapists to help their son catch up on his milestones.
“We kept taking him to paediatricians until we found one that said, ‘yeah no, there’s definitely something wrong, we need to investigate further’,” Mrs New said.
“That was quite far down the path, we’d already started therapy.”
When Lachy was 18 months old they found out he was on the autism spectrum, had hypertonic cerebral palsy and global developmental delay.
Six months later when Lachy was two they got the results of genetic testing that revealed he had a problem with his SCN2A gene.
The rare gene mutation causes severe disability due to a range of neurodevelopment disorders as well as epilepsy, although thankfully Lachy hasn’t had any seizures to date.
While receiving such a diagnosis can be daunting, for Lachy’s parents the news had come with a “little bit of relief”.
“For a lot of families when they receive their genetic testing diagnosis it is overwhelming and it’s this huge world of what’s going to happen,” Mrs New said.
“For us it was a little different, because at the time we had gotten Lachy’s diagnosis my daughter had been born … we weren’t really sure if she was going to exhibit the same symptoms, so for us it was actually a little bit of relief.”
The was also relief on a more personal level for Mrs New, who for years had blamed herself for Lachy’s disabilities.
“I think you always second guess everything you did, like was it something we did when we were trying for a baby? Or when I was pregnant did I stress too much, or did I exercise too much?” she said.
“So in a way when I got this genetic diagnosis it was a bit of relief, because nothing that I did caused his disability.”
Getting the diagnosis has also meant the New family can get support from other families who had the same diagnosis.
“It opened up a lot of doors,” Mrs New said. “(The) SCN2A global community is quite big, big in terms of community support. There’s not that many cases around the world but there is a lot of support out there.”
Today Lachy, is a happy and bubbly child who celebrated his fifth birthday this month.
While he is non-verbal and Mrs New doesn’t believe he will ever talk, Lachy learnt to walk when he was two-and-a-half years old.
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“Whatever I think is a challenge in my life it’s nothing compared to what he’s done to get where he’s at, it’s inspiring in a way,” she said.
But Mrs New admits it has been hard to watch Lachy’s younger sister Meadow achieve milestones he will probably never reach.
“You hear her talk, she’s only two, she said, “and then you look at Lachy and you can’t help but think, ‘what if?’”
Mrs New is sharing Lachy’s story for Jeans for Genes Day, an annual fundraiser held on August 7 this year to raise money for the Children’s Medical Research Institute which aims to find cures for children’s genetic diseases.
“The only solution is really to fix the problem and that’s where the whole genetic researching comes in,” Mrs New said.
“I am so strong and supportive of it, because I do feel like there might not be a cure for Lachy in the future but I think they’ll be some benefit for him.”
For more information about Jeans for Genes Day or to start fundraising now, visit the Children’s Medical Research Institute website
Originally published as Scary reality behind baby sleep joke