News

Rare diseases not so uncommon

Ashton Hayes, 5, and mum Angela (front) with (rear l-r) Wilson Park School principal Helen Rae and students Shannan Nurse, 17, and Hayley Cameron, 7.
Ashton Hayes, 5, and mum Angela (front) with (rear l-r) Wilson Park School principal Helen Rae and students Shannan Nurse, 17, and Hayley Cameron, 7.

If there's to be a poster boy for Rare Diseases Day, Goonellabah's Ashton Hayes should be a leading candidate.

Five-year-old Ashton is not only lively and cute as a button, but he's one of only four people in the world with the genetic condition Atypical Rett Syndrome. And this year he started big school.

He attends Wilson Park Public School in East Lismore, which caters for kids with specific purposes like Ashton, who is dependent on a wheelchair for mobility and has limited speech. His mum Angela says like most kids starting school, he can't wait to put on his uniform each morning and get the day started.

"He's absolutely loving it… he gets so excited when we turn into the school driveway every morning he starts to vocalise and he swings his arms around wildly and kicks his legs," Angela said. "He hardly gives me a second glance when I say goodbye and give him a kiss on the cheek," she laughed.

"He has come along in leaps and bounds (since starting school)… while he's very tired and fatigued at the end of the week, he's just a sponge taking in all his new learning, and he loves it."

Angela said marking Rare Diseases Day could potentially be an important day for many parents at the school, who can learn about the new national organisation that was established last year - Rare Voices Australia - and see if they fit the criteria for joining.

After talking with the principal of Wilson Park School, Helen Rae, Angela said more people may be included in the organisation's parameters than they first thought.

"But we haven't connected the dots yet... I would love there to be a local support group get together," Angela said. "When you have a child with such a rare condition it can make you feel quite isolated and alone. If all the people with rare conditions join together all of sudden you're not so alone - it's suddenly common that you have a rare disease diagnosis!"

She said for people who have a child with a disability but no specific diagnosis, which can be a terribly frustrating place for a parent to find themselves, it could create important bonds.

"I think it could be really important for parents and families who don't have a specific diagnosis, such as when the child has a development delay but the root cause is never known. We were lucky with Ashton that his genetic deletion showed up because of a new test, but just a few years before, without that technology available, we would have found ourselves in the category of no known diagnosis... and still searching for an answer," Angela said. "It doesn't change the fact the condition exists, but a diagnosis gives you closure that there's an answer, and you can move forward."

She said being able to connect and talk to other parents and find out information about rare conditions, and what facilities and funding are available would be a wonderful thing.

"The basic human need of belonging and feeling like you belong is really important."

The idea for Rare Voices Australia came from a recent symposium in WA which identified the need for an umbrella organisation to bring together the disparate groups and families affected by rare diseases.

While still in its infancy - the board met for the first time last week - board member Dr Tracy Dudding said the organisation could help raise public and political awareness and lobby for increased funding for research and work towards providing equity in access to care and treatment.

"It's estimated about 1.5 million Australians have a rare disease - about the same as diabetes. We talk about the paradox that while each of the conditions is rare, it's not unusual people have rare diseases," Dr Dudding said. "People with rare diseases are commonly known as 'health orphans' because for most of them there's limited information about the causes of disease and therapies for them, so they are often neglected.

"One would hope the long-term plan (of Rare Voices Australia) is to have an Orphan Disease Act which would enable allocated funding for research into rare conditions... At the moment rare diseases aren't considered a health priority in terms of research and we'd like to see that change. If there's no research, there's no development of treatment."


Stay Connected

Update your news preferences and get the latest news delivered to your inbox.

IS IT POSSIBLE? How to live alongside flying-foxes

A vexed questionof living with flying foxes will be discussed this Friday at the NPA forum.

THE conflict between urbanites and wildlife has a new battleground

Gamblers can beat betting

BEAT IT: Recovered gambling addict Blayne Marcantelli gives an emotional address at the Responsible Gambling Awareness screening of the movie, Broke, at Ballina Cinema.

Lismore Baker raises awareness for problem gambling.

Elder’s art tells tales of past for today’s kids

INSPIRING: Uncle Digby Moran with Lismore Heights Public student Shannyah Hope at Lismore Regional Gallery.

Bundjalung Elder teaches heritage through art and stories.

Latest deals and offers

WATCH: Local artists ‘paint’ the Opera House with light

RHONDA Roberts and Karla Dickens' work will be seen by millions of visitors and Sydney-siders from tonight.

IS IT POSSIBLE? How to live alongside flying-foxes

A vexed questionof living with flying foxes will be discussed this Friday at the NPA forum.

THE conflict between urbanites and wildlife has a new battleground

Gamblers can beat betting

BEAT IT: Recovered gambling addict Blayne Marcantelli gives an emotional address at the Responsible Gambling Awareness screening of the movie, Broke, at Ballina Cinema.

Lismore Baker raises awareness for problem gambling.

Elder’s art tells tales of past for today’s kids

INSPIRING: Uncle Digby Moran with Lismore Heights Public student Shannyah Hope at Lismore Regional Gallery.

Bundjalung Elder teaches heritage through art and stories.

NSW lags but North Coast booms on renewable energy

But Northern Rivers moving ahead at "cracking pace"

VIDEO: The fastest, easiest way to peel a potato?

There is a fast way to peel potatoes.

This 30-second video shows how quickly you can peel a potato

The best retro movies of the week? May 27 - June 3

Gregory Peck Photo Contributed

This week TV fan get to see Tom Cruise in a 1980s classics

Perfect time to invest in Northern Rivers property

The Northern Rivers rental market is tighter than Sydney making it the perfect time for investors to get better returns out of property than superannuation or banks deposits.

Low interest rates and tight rental market are prime time to invest