SWAN Kids: The Thousands of Children with Illnesses so Rare, they Don’t Even have a Name

Nicole Brimble waited nine years to hear her daughter Abbey say “mum”.

She has only heard it once and it was enough to bring proud tears to her eyes.

Abbey is one of thousands of disabled Australian children with conditions so rare they don’t yet have a name.

She is a medical mystery and as well as suffering from epilepsy and delays in development, she can only manage to speak a handful of words.

Ms Brimble has dedicated her life to her daughter and proudly watched as she slowly progressed.

There are many unknowns in their world and daily challenges, but small steps like hearing Abbey say “mum” are what inspire Ms Brimble every day.

“When I was pregnant … you imagine your child when they’re born and growing up and getting married and having kids of their own,” the Sydney mum said.

“So when you start to see problems arising as they get into their early months … you then have to just deal with what is coming at you at the time.

“What spurs you on is seeing the little things come, like all of a sudden you might hear a word or a sound that sounds like a word or you get lots of smiles and hugs.

“You have to enjoy those fun times and the happy times and just keep going with what you need to do.”

Abbey and others are known as SWAN children, suffering from a Syndrome Without a Name.

Melbourne mum Dani McLennan recently the joined the SWAN Australia support group, with tests so far failing to diagnose her 22-month-old son Jakob Engley.

Jakob is only the size of a nine-month-old, he needs to be fed through a tube, requires an oxygen tank to breath, is severely hearing-impaired and has low muscle tone.

“I think you have up and down days … and then each day it’s the hope he’s going to get a little bit better,” Ms McLennan said.

“He’s a pretty gutsy little kid. He’s a happy little boy. He’s pretty relaxed, loves being around people (and) he’s quite a cheeky little boy.”

SWAN Australia president Heather Renton, whose seven-year-old daughter Becky has not been diagnosed, said there needed to be more government-funded genetics research and more support available for children with unknown conditions.

She said families weren’t angry at not having a diagnosis but rather frustrated at the limits of science.

Professor Ravi Savirirayan, a member of the genetics team at the Murdoch Childrens Research Institute, said brave parents of children who haven’t been diagnosed face many years of dedicated care for their kids because access to funding for support can be difficult.

“A lot of them do fall through the cracks, which is quite sad,” he said.

Murdoch Childrens Research Institute director Professor Kathryn North said technology to diagnose rare conditions was improving rapidly and children without diagnosis were encouraged to be tested regularly.

“Living with the unknown is much more stressful than in receiving a severe diagnosis, because you just don’t know what to expect. There’s immense uncertainty,” Prof North said.

“With a number of (rare) disorders, there may not be cures and there may not be effective therapies but parents universally will say just to know (is important).”

Parents can join the SWAN Australia support group by visiting www.swanaus.com.au.

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Topics:
Education, Training, Early Intervention, Medical, Health General, Mental Health

Author:
Kieran Campbell

Source:
News.com

Date published:
Sat 13th Jul, 2013