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.

How to manage sustainability

Deborah Benhayon - Open For Business.

What business has to do to maintain sustainable development.

From purr to a roar, Meow Meow is not kitten

ANYTHING IS PAWSIBLE: Acclaimed cabaret star Meow Meow returns to Lismore.

Anything can happen during her local shows this week

Not just any party, it's the Arty Party!

FOR ALL: The event will feature performers, local artists, storytellers, musicians and dancers.

A family-friendly, child-focused arts festival

Local Partners

Why we're the top spot for mobile tourists

Mobile tourists spent nearly six million nights in Northern NSW last financial year.

Programmers' joke is on us

Dr Airdre Grant

Computers - it's a love/hate relationship.

How to manage sustainability

Deborah Benhayon - Open For Business.

What business has to do to maintain sustainable development.

From purr to a roar, Meow Meow is not kitten

ANYTHING IS PAWSIBLE: Acclaimed cabaret star Meow Meow returns to Lismore.

Anything can happen during her local shows this week

Not just any party, it's the Arty Party!

FOR ALL: The event will feature performers, local artists, storytellers, musicians and dancers.

A family-friendly, child-focused arts festival

More Northern River schools needed to be counted in

John Foreman and Jay Laga'aia at a songwriting workshop earlier this year.

Music - Count Us In will be held in November

All she wants is to be chosen

TAKE ME HOME: Daisy from pet shop to pound to your place.

Daisy has gone from puppy farm pet shop dog to the pound.

It's time to get your shorts on the big screen

ANIMATED: Citizen To Activist, an animation by David Lowe and Eve Jeffrey, won the Jury Award for best Short Film at Flickerfest 2015 - Byron AllShorts.

Entries for Flickerfest 2017 and Byron All Shorts are now open

These local movies will shine at 10th Byron Film Festival

LOCAL STORIES: One of the films featured this year is The Bentley Effect, a documentary about the Bentley Blockade.

THIS year marks a milestone for the Byron Bay Film Festival

The Dixie Chicks to headline 2017 CMC Rocks festival

US country music group The Dixie Chicks.

ORGANISERS move festival dates to lock in US country music stars.

What's on the big screen this week

Denzel Washington in a scene from the movie The Magnificent Seven.

DENZEL Washington returns in a shoot-em-up Western.

RECAP: The Bachelorette S2E3 - Which picnic date is better?

The Bachelorette Georgia Love, centre, with her top 11 bachelors.

Lee and Matt get some one-on-one time with Georgia.

Homer Simpson thanks Australia during Opera House visit

Homer Simpson visits the Sydney Opera House.

ANIMATION favourite gets attacked by seagulls in viral video.

Channel 9 orders second season of Doctor Doctor

Rodger Corser stars in the TV series Doctor Doctor.

RURAL medical drama finds a loyal following.

MOVIE REVIEW: Storks delivers family fun

A scene from the movie Storks.

ANIMATION can be hit or miss but when it hits, it hits hard.

UPDATE: Former rodeo champ's sale rained out, now back on

Larkhill local Ken Consiglio is having an auction of most of the things on his property.

'People kept showing up and we had to turn them away'

Couple build their own 'tiny house' for $45k

Holly Bowen and Oli Bucher built their "tiny house" themselves, only hiring a plumber and an electrician. Photo/supplied

The house, which is built on a trailer and can be towed.

Sunshine Beach property breaks real estate record

The property overlooks Sunshine Beach, as the backyard lawn meets the sand.

Sunshine Beach mansion sale smashes real estate record

SOLD: Historic hotel finds new owner

Post Office Hotel Grafton

Photo Adam Hourigan / The Daily Examiner

Pub in new hands and heading in a brand new direction

Peppers Airlie Beach put on the market

ON THE MARKET: Peppers Airlie Beach is being for recievership sale by CBRE Hotels and PRD Nationwide Airlie Beach.

Peppers Airlie Beach is being offered for sale.

3500 jobs on the way with new $950 million resort

Residential, tourist, community, and open space on Hummock Hill Island.

PROPERTY developers plan to begin construction next year.