A Bacchus Marsh mother is calling on Moorabool businesses to help fund an education seminar so parents can learn more about DiGeorge syndrome.
Three-year-old Breana was born with the syndrome, more accurately known as 22q11.2 deletion syndrome, which is caused when a small part of chromosome 22 is missing.
There is no cure and the only treatments are for the symptoms of the disorder.
Breana’s mother Nicole Zois said the effects of the disorder include congenital heart disease, epilepsy and respiratory problems.
“She has spent a lot of time in hospital, I would say a year of her life,” Ms Zois said.
“It’s a matter of treating each symptom as it comes up. Breana has had three heart surgeries and I’ve lost count of how many other surgeries she’s had.”
Ms Zois is organising the seminar to help other families to understand the disorder and, despite fundraising efforts, she’s still $1200 off a $3000 goal to make it happen.
“It is believed to be the second most common genetic disorder behind Down syndrome, yet most have never heard of it,” she said.
“The seminar will help to educate parents, caregivers and patients with 22q11.2 deletion syndrome. It will give families and doctors a chance to connect and discuss the latest research, treatment options and hope for the future.”
Ms Zois said the seminar would also offer a support network to Moorabool families.
“We’ve got three other children and unfortunately, in a family like ours, the older children tend to miss out on things,” Ms Zois said.
“We sold our business in St Kilda to move to Bacchus Marsh to be able to spend more time together and we’d love to be able to meet other families with children like Breana so we can share our experiences.”
For information or to help: 0413 148 351