The 2.5-year-old was diagnosed with Angelman syndrome in 2019, devastating his parents Sarah and Tim Johnston from the Gilgandra district.

But through her grief and exhaustion Mrs Johnston has found hope, making it her mission to support the search for a cure and give her son the best life possible.

Angelman syndrome is a rare neurogenetic disorder affecting one in about 15,000 people that causes severe intellectual and physical disability.

Symptoms include difficulties with movement and balance, sleep and feeding issues, and seizures.

Some "angels" never walk and the majority do not speak.

Mrs Johnston recounted the family's emotional journey to the Daily Liberal this month, declared "rare diseases month" worldwide and after taking to social media to highlight International Angelman Day on February 15.

When Ted, a little brother for toddler Grace, was born in June 2018, it was the start of the most exhausting year of her life, she said.

Her new baby "just screamed" and was "so hard to feed".

As time went on Ted wasn't meeting his milestones, but while Mrs Johnston could list symptoms like reflux and sleep difficulties, there was not one single thing that would set off a red flag in a GP's mind to refer the family to a paediatrician.

Seeing a physiotherapist and speech pathologist helped Ted and helped his mother "seek answers".

"It also takes a bit of time to come to terms yourself, and actually be able to get those words out that there is definitely something wrong here," Mrs Johnston said.

"And to get the strength to go and find a diagnosis, that's a really, really difficult thing to do when you've got this beautiful new baby that you love so much, and you just think he's perfect."

Shortly after Ted's first birthday he had an episode, was raced to a medical centre, and stopped breathing.

"So from that we were actually able to convince a paediatrician that there was something wrong," Mrs Johnston said.

"I've only recently found out... the only reason that paediatrician knew to even test for Angelman syndrome was because he'd heard of it before.

"Had he not heard of it before, perhaps we'd be still chasing a diagnosis.

"So the awareness is so important."

The first genetic tests were done, in what was a "long and hard, hard wait" of about two months before Ted was officially diagnosed with Angelman's syndrome.

His parents knew nothing of the condition, and googling it left them further despairing.

"Google does not sugar coat anything, and doesn't hide anything," Mrs Johnston said.

"So the very first thing we saw was there is no cure and there is no treatment.

"After that first google, I basically put my phone away, and I couldn't look at Google, I couldn't look at anything because it would make me so sad.

"I didn't want to know anything about Angelman syndrome, I didn't want to know anything about special needs, I didn't want to know anything about NDIS, I didn't want to be part of those support groups or that family of people, or community, I didn't want any of that, I just wanted it not to be true."

After some bleak weeks, Mrs Johnston received a crucial phone call from her brother, who had been researching.

"...through the tears and the grief he said to me 'you'll never guess what, I found this charity, the Foundation for Angelman Syndrome Therapeutics (FAST)'," she said.

"He said the first thing that it says on their website is scientists believe that Angelman syndrome has great potential to be cured.

"And that really struck a chord with me."

From there emerged a mum and carer dedicated to raising awareness of the syndrome.

Mrs Johnston has been enormously encouraged by the early results of clinical trials in the United States and committed to raising funds for FAST Australia, which is dedicated to advancing research into therapeutics and interventions to help treat the syndrome.

"I'm still obviously grieving and always will, but I really took hold of that, the potential for a cure, and about a month or six weeks later I set up a fundraising page and I focused on doing something good," she said.

"I've tried to help Ted as much as I can with his physio and speech and occupational therapy, and all of that, but I am really passionate about this trying to find a cure idea, because I guess we need hope.

"...when I got that diagnosis, and the idea, it really was, it was almost like I had buried my son, only part of me felt really robbed that I didn't even get to have a funeral to say goodbye.

"But then when I got that hope back, that hang on here, your dreams might not all be crushed and that person might still be in there, we might be able to actually recover this person... hope is just so valuable to hang on to."

Ted had a scary setback in November, related to the epilepsy that is frequently part of Angelman syndrome.

"He was actually in Dubbo ED [emergency department] at the time those uncontrollable seizures happened," Mrs Johnston said.

"They were unable to be stopped by medicine and he ended up actually having to be revived.

"He was sent on a helicopter then to Sydney hospital, and spent time in a coma."

Recovery took about two months, and together they had to work on getting Ted's hard-won skills back.

Despite the challenges he faces, Ted has made great progress.

He can stand, and is getting less messy with his feeding, "although he's still very awkward and still very messy, just better than what he used to be".

"I've actually got him to be able to coordinate his hands and tongue to be able to eat a cob of corn, eat fried rice, Corn Flakes, Coco Pops, so some really tricky foods to get your tongue around," Mrs Johnston said.

"As far as communication goes, he still hasn't communicated at all with us.

"I guess he is a very big boy, so he is a three-year-old boy, but at about the stage of an eight to nine-month-old baby.

"He is very keen and ready to get up and try walking, and we're receiving our walking frame for him in about a week's time.

"So he is on the up."

Anyone who would like to contribute to finding a cure can go to https://2021cureangelmannowaustralia.gofundraise.com.au/page/TedsAngels-76633368