Like most parents, Kate and David New were emotional when their daughter started to walk and talk, but unlike most parents, it was because they had missed that joy with their first-born son Lachlan.
“If you saw what Lachy was like day-to-day, we love him immensely, but he's had it hard, the things that come normal for a child,’’ Kate said. “I’m amazed when I see my daughter walk or talk just naturally. Lachy can't communicate. He’s nonverbal, and we never thought he'd be able to walk.’’
From the moment Lachlan was born, Kate had sensed something wasn’t quite right.
“We always worried that he wasn't quite like the other children. When I joined a mother's group, I would pick up the other babies, and they would feel lighter because they were supporting their own weight. He'd fall asleep on the floor while other children were crawling over him."
“In addition to that, I always suspected there was something on the autism side of things. Lachy would never look me in the eye. He would never look at other people in the eye. He didn't babble. He didn't make the cute coo sounds that other children made.’’
Several paediatricians told the family to be patient and wait for him to hit his milestones, which was hard for Kate to hear.
“It just took a while for me to convince other people, because everyone thought that I was making it up. I don't know why any parent would want to make that up.’’
Instead of waiting for a diagnosis, Kate and David started Lachlan on therapies, and when he was around 18 months old, they were told he was somewhere on the autism spectrum, with hypertonic cerebral palsy and global developmental delay. At two years of age, they were finally given the results of genetic testing which showed that he had a problem with his SCN2A gene.
Learn more about the SCN2A gene here.
“So, there's the autism spectrum side, which he's definitely impacted by. But there's also an epilepsy, seizure side of things. We've been fortunate enough that Lachy hasn't had any epileptic seizures as yet. He seems to be quite severely, intellectually delayed. So, we feel like he'll be dependent on for us for the rest of his life. But we're very hopeful.’’
Research and being involved in Jeans for Genes and the work done at Children’s Medical Research Institute is what gives Kate hope.
“Research is everything to us. We feel like we've exhausted all therapy options for Lachy, and we continue to day-to-day,’’ Kate said. “He does speech therapy, he does occupational therapy, physiotherapy, we've tried every single diet imaginable. We've even tried inspecting his gut microbiome and trying different probiotics to alter his behaviours. And look, we've had some successes, but we know from his genetic variant, that he's not producing protein that helps regulate his neurological system. And until genetic research is extended to help, nothing's going to change for him, nothing.’’
Kate looks at the positives, that Lachlan isn’t regressing, and hopes research will help with his symptoms one day to improve everyday life.
“I look at scientists that dedicate their lives to this research, and they are superheroes in my eyes."
“There's lots of research going on in the genetic therapy field. So, I'm very, very hopeful that genetic research will open up some doors for him,’’ Kate said.
“We don't ever expect that he will be cured. But hopefully, if we can alleviate some of the symptoms, alleviate the day to day frustrations, that would be fantastic.
“It's so important not just for Lachy, it's for the 1 in 20 kids impacted by a genetic disease.
Kate said she feels like the COVID-19 experience has helped people understand her life.
“’I feel like now people understand what social isolation is, because that’s the norm for us. That’s our day-to-day life. We never go to the shops or to a sports ground. Lachy will just run off, so we can’t go to busy places like that. As part of his sensory issues, he touches and licks everything, so I have to watch him so carefully.
“I hope this experience shows people how important research is. The only way life will return to normal after COVID-19 is a vaccine. For us, I feel so strongly that people need to value research. I don’t know why people make sports stars or actors as their heroes – it should be scientists.’’