'We kept being told not to worry. At eight weeks, our baby's diagnosis proved we were right.'

Thanks to our brand partner, HBF

Just under a year ago, first-time parents Claire and Ally McDermid welcomed their little boy Cooper into the world.

"My husband and I were filled with excitement, nerves and more love than we ever thought possible," Claire told Mamamia.

"But almost immediately, we suspected something wasn't quite right."

Within days of Cooper's birth, Ally noticed what he described as a "white cloudiness" in their son's eyes.

"We badgered everyone who would listen about this and eventually a paediatrician told me his eyes were 'normal'. We told ourselves we had to enjoy being parents and stop worrying so much."

Eight weeks later, during a routine check with the child health nurse, their gut instinct that something was wrong was validated when the nurse conducting an eye health assessment remarked that she couldn't see Cooper's red reflex.

"Suddenly, we were getting rushed through the Perth Children's Hospital emergency department. The next day, they put Cooper under general anaesthetic and took him away. We bawled our eyes out," Claire said.

Before they brought him back, an ophthalmologist gave Claire and Ally a diagnosis.

"Cooper was born blind and we were in a situation we hadn't really even considered possible — that modern medicine couldn't do anything to fix it. No surgery, no treatment, nothing," Claire said.

Image: Supplied.

When they read the discharge report on their way home from the hospital, they saw the words 'Norrie Disease' for the first time. The couple were devastated.

If you haven't heard of Norrie Disease, you wouldn't be alone. The genetic condition is so rare that it affects fewer than 500 people worldwide.

"Norrie is so rare that almost everyone we speak to has never heard of it before," said Claire.

"It's an X-linked genetic condition which means it primarily affects boys and might run undetected for several generations through the female carriers — or it can appear de novo (out of nowhere)."

Being so rare, Claire said that most genetic tests don't look for it.

"Children with Norrie are nearly always born blind. Not just legally blind either — only about one in five retain even light perception past their third birthday," she said.

There is a long list of other possible symptoms including intellectual disability, autism and seizures. Individuals with Norrie Disease also progressively lose their hearing which, without sight, Claire said, "is their most important connection to the world".

Despite its severity, the rarity of the condition leads to limited awareness and support for Norrie Disease. This is why Claire and her husband decided to take matters into their own hands and get involved with HBF Run for a Reason.

"My husband Ally and I have done the HBF Run for a Reason for the past five years, occasionally raising money for someone else's cause," said Claire.

"This year, it was a lot closer to home. It gave us the opportunity to raise nearly $17,000 for the Lions Eye Institute who do pioneering research into rare genetic diseases — which might one day include Norrie."

Image: Supplied.

HBF Run for a Reason was held on Sunday 25 May and the fundraising efforts this year already reached an impressive $1.6 million, benefitting over 350 charities.

Since its inception in 2010, the fundraising favourite of the Western Australian community — attracting amateur and dedicated runners alike — has raised more than $14.5 million for a range of causes.

But for Claire and Ally, HBF Run for a Reason hasn't just helped raise money for research into the condition; it has also created connections with others in similar situations.

"Since the event, we've managed to connect with other Australian families impacted which is priceless," she said.

The event has also helped generate awareness which Claire said is vital for helping treat Norrie Disease.

"Awareness creates connections between impacted families and attracts researchers to work on a treatment," she said.

Following the diagnosis, they searched for a local charity or support group but found none existed in Australia. In late June, their application to register the Norrie Disease Foundation Australia was approved by the ACNC, with the aim of supporting local families and driving research efforts.

"We now have the first member of the charity's Medical Advisory Board — an amazing professor who works at the Lions Eye Institute."

As well as impacting sight, like others with Norrie Disease, Cooper is also experiencing hearing loss which means his daily routine involves regular appointments with different therapists such as occupational therapists, physiotherapists, speech pathologists and a visiting teacher.

He also uses a nasogastric tube to help eat.

"Poor feeding is commonly reported in Norrie Disease," said Claire, "but with the disease being so rare and this symptom not being as common, it's really not well understood why".

These unknowns — the question marks about what's next — are the hardest part of the condition for Claire and Ally.

"Because Norrie Disease is so rare and it also has a spectrum of symptoms, it's hard to know how it will impact Cooper in the future. It's hard not to worry about the what-ifs," she said.

Which is why the family are doing all they can to raise awareness and secure research.

"I want people to know what a huge difference supporting Norrie Disease charity makes. The evidence suggests that we can find a treatment for the hearing loss. All that's stopping it is time, funds and the will of good people to make a difference."

While Norrie Disease has undoubtedly shaken and posed incredible challenges for the family, Claire said that Cooper (now 10 months) is "the happiest little boy".

"Cooper is our only child and as a family, we love spending time outdoors, feeling our way around the grass at the park. He loves splashing in the bath, bouncing on his daddy's tummy and music — especially The Beatles," she said.

"He is full of life and loves exploring."

Join Claire, Ally and thousands of others next year — mark Sunday, May 24 in your calendar for the 2026 HBF Run for a Reason.

Feature Image: Supplied.

HBF Run for a Reason is all about your reason. It allows you to raise funds and awareness for a cause close to your heart. This is community spirit at its best and it's why HBF has been running the event for the WA community since 2010. Thanks to our incredible 2025 participants and volunteers, over $2 million was raised for 350+ vital charities. A record-breaking result. Join us next year! Mark Sunday 24 May in your calendar for another incredible day with huge health benefits.