3 days Ago By Orlander Ruming
Sarah Johnston knows the pain, confusion and grief that comes when your child disorder. or signup to continue reading It's been five years since her son Ted . On that day, it was just her and her children alone in the paediatrician's office, while she waited for the heart-breaking news she had expected.
Her husband was working on the farm, dealing with one of the worst droughts on record. The diagnosis itself came after months of fighting to be heard from various health practitioners. The symptoms of Angelman syndrome include developmental delay, impaired movement and balance, lack of speech and seizures.
It's often misdiagnosed as cerebral palsy or autism. It's for that reason that while there may be 500 cases of Angelman syndrome in Australia, Ms Johnston believes it's actually much higher. She estimates the actual figure to be around 1500.
That's why she along with organisations like (FAST) are campaigning for to be included in the testing done on newborn babies. "If we have the newborn screening test, we're picking people up, we're making them part of that community before they have to go through that pain. They're getting that support," Ms Johnston said.
"As hard as it is finding out your little baby's not going to live the same path as what you've thought, doing it with support is a lot easier than doing it without." Ted is six-years-old now. He's had some big successes in recent months.
One of the things Ms Johnston is most excited about is a trial he's been doing with an eye gaze system. It means Ted is able to use his eyes to control things on a screen. When he first started using it, Ted's little brother Roy ran off down the paddock out of nowhere.
"My mum and sisters took off after him and Ted, it was like he was really fed up with sitting at the table and didn't want to do communication, but out of nowhere he chose 'ran away, ran away, rescue, rescue'. It was so purposeful," Ms Johnston said. "It's just amazing what he's capable of when you give him the tools.
" Ted still requires assistance to walk but his record is six independent steps. He has also started school and has a fierce love of music. "My family is pretty musical and he's clearly got the musical gene.
Anytime there's music he's bopping in time and is just really, really happy," Ms Johnston said. "If my sister is playing guitar at a function, I mean this kid can't walk but he would drag his walking frame with the brakes on and full resistance just to get to the guitar." Ted is also involved in a clinical trial that's working to develop a treatment for Angelman syndrome.
It's about to go into the third phase of testing. "I was told by a geneticist in our genetic counselling session that a cure is a dream and we need to stop dreaming. Which I thought was really, really rough.
That's really stuck with me. And I guess I felt like proving her wrong," Ms Johnston said. "There's always a first time for everything.
At one point in time there was someone saying 'let's develop a medicine so that no one has a headache anymore' and it would've been the most ridiculous thing...
but now we take Panadol every day." But Ms Johnston, who lives in the Gilgandra region, said life hadn't been "rainbows and unicorns". "I've spent the last five years just being a really confused, grieving mother," she said.
Ms Johnston said it didn't feel like five years since Ted's diagnosis, more like two weeks. "Five years ago feels like a kick in the guts. There were so many journeys to go on.
You're not sure what life is going to look like. There's a lot of confusion," she said. "Even some of the Angelman mums who have children who are adults still have the confusion between holding on to hope and trying not to be too hopeful that they'll be disappointed.
That happens with everything. Every symptom. Every aspect of life.
You're trying to protect your own heart and everyone around you." There was a lot of hope when Ted was first diagnosed, Ms Johnston said. And while there was still hope for the future she now knows where Ted lies on the scale of severity.
But while Ms Johnston thinks Ted knows he's different from those around him, she believes he has the potential to change the world. He's already changed his family for the better, from the empathy his sister Grace has developed to the deep conversations it's forced Ms Johnston and her husband to have. "Underneath all of the symptoms there is a typical person, who's probably very frustrated from our lack of understanding.
Ted has shown me that over the course of his six years and then continues to show me that every day. I'm learning every day," Ms Johnston said. "There's the idea of being an Angelman expert, and I truly don't believe anyone in this world is one, and I think that it is really valuable to stay humble to that and to give these people the tools so they can show the world what they can do.
" At the weekend, Ms Johnston's brother Mickey Pye ran the Sydney Marathon to raise money from FAST. . Deputy editor at the Daily Liberal, covering council, politics, human interest stories, community news and everything in between.
Deputy editor at the Daily Liberal, covering council, politics, human interest stories, community news and everything in between. Advertisement Sign up for our newsletter to stay up to date. We care about the protection of your data.
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