CRESWICK’S Grady Coulson was diagnosed with 18q deletion syndrome at just eight weeks old.
But his parents, Georgie and Travis, struggled on alone for another two years before turning to the internet for support.
Finally, Ms Coulson found Facebook pages dedicated to the rare chromosomal disease.
“For two years, we muddled through on our own because most of our doctors had never come across another child with the syndrome,” Ms Coulson said.
“It was great to finally meet some other families on Facebook.”
The syndrome is caused by a deletion on chromosome 18, with about one in every 40,000 babies worldwide born with the disorder.
It has a wide range of symptoms including slow development, poor muscle tone, vision problems, ear and sinus infections, hearing loss, heart conditions, gastrointestinal issues, foot abnormalities and growth problems.
When Grady was born on Christmas Day, 2010, his paediatrician immediately noticed he had some of the classic 18q syndrome signs, confirmed by genetic testing two months later.
Today, the three-and-a-half-year-old has poor muscle tone, and can still only walk by clinging to furniture.
He also has language delays, a hole in his heart, an umbilical hernia, vision problems, hypoglycaemia and coeliac disease.
However, the little boy with the big smile loves his iPad and his sisters Maisie, 5, and Nellie, 10 weeks.
And, according to Ms Coulson, he understands everything happening around him but just has trouble verbalising it.
It is expected his movement and language skills will develop over time.
The Coulsons have met families in Geelong and Melbourne with children with 18q syndrome, with no other Ballarat child known to have been diagnosed.
Further research also led them to San Antonio’s Chromosomal 18 Registry and Research Centre, which is virtually entirely self-funded.
“It relies on our payments mainly.
“They have to do all their own fund-raising and they run the registry from home to cut costs,” Ms Coulson said.
“I decided I would like to help them out so started Grady’s Everyday Hero page.
“I had $300 as my target but I’ve already raised $2500 in four days.”
To donate, go to give.everydayhero.com.au/grady.2