Elissa and Peter Hellyer on their daughter Amelia's diagnosis with Kabuki Syndrome | Newcastle Herald | July 10, 2025 - video Dailymotion

Video: Supplied / Jeans for Genes

Transcript

00:00So I think when she first came out she had like difficulty breathing and then

00:06it honestly felt like there was just something new every day when we were in

00:10the special care nursery. So she had a hole in her heart, they couldn't

00:15stabilise her blood sugars, had some issues with platelet counts and things

00:19like that but honestly they just kept telling us there was something wrong and

00:24they didn't know what it was. It was a bit of a rollercoaster.

00:29They ended up taking some bloods to get sent off for exo sequencing which took

00:34about nine months which is about average for them to be actually find what was

00:39wrong with Amelia and it came back that she had kabuki syndrome. The big scariest

00:44diagnosis when googling is life expectancy for kids with kabuki. A lot of them can

00:49have issues with their red blood cells and immune systems and things. Thankfully

00:54at this stage Amelia hasn't had any of those issues but that was kind of the

00:57the biggest scariest thing of shortened life expectancies. I think the other

01:01thing too is that there really wasn't a lot of information out there like there's

01:06a couple of little snippets but it's not as if there's you know a very clear

01:10picture of what's going to happen in her life. It really is just a we have to wait

01:14and see which is pretty confronting. Often there's issues with your heart, issues

01:20with immune system and things like that, hearing loss is very common, global

01:28developmental delays so Amelia's got knee braces and stuff to help her walk and

01:35we've had to do physio and OT and speech since she was born to try and get her to do

01:41those simple things like walking and talking that we sort of take for granted.

01:45That's taken her hours and hours and hours of therapy to achieve.

01:50This is what we've been given. Let's charge along with it and give her the best life possible.

01:55We then both got tested to see if we were carriers of kabuki. We're both not carriers of

02:00the kabuki syndrome so Amelia was one out of several million chance of her getting kabuki or having kabuki.

02:09Yeah so for me it was very overwhelming you know when you're pregnant and it was

02:14Amelia's our first child so obviously when you're pregnant it's not really what

02:18you're expecting when you think about how things are going to be with your first

02:21child so I found it very overwhelming. I honestly have never seen anything about

02:29an adult with kabuki syndrome and I don't want to think about what that might

02:33mean but yeah I think I guess as parents you know you sort of envision what the future will be like

02:42and that's really tricky with Amelia because it doesn't seem like anyone's looked into kabuki syndrome

02:47or what the future sort of is for kids with kabuki syndrome. The research for us is is about

02:54you know quality of life and ensuring that kids who are born this way you know get the opportunity

03:01just to live a normal fulfilling life like every other kid. She needs to have those opportunities

03:07too and the more research and the more money we can raise for research gives these kids so much more

03:12opportunity in the future. So by supporting Genes for Genes you're going to be changing people's lives.

03:17It's not just about Amelia you know there's so many kids that are affected by genetic syndrome and

03:24they all deserve to live a fulfilling happy life and the only way that's going to happen is if there's

03:32some research into each and every one of their syndromes to you know find out what we can and make a bit

03:38of a difference.