After years of questions, Brooklyn Greaves and her family finally have some answers.
Two weeks ago, the seven-year-old Wagga girl was diagnosed with KBG Syndrome, which is caused by a mutation in a gene.
According to the KBG Foundation, about 400 people worldwide have been diagnosed with the condition.
Amy Jerrick said the journey to discovering her daughter's diagnosis started almost five years ago.
"When she was a baby, everything seemed fine," she said.
"It was more when developmental stages started happening with her walking and eating. She didn't start walking or eating solids until she was two and a half years old.
"I've got another child that's two years older than her, so I knew this was a bit odd."
Ms Jerrick began to take Brooklyn to various doctors, but was told that her daughter was just one of those children that took a while to catch up. She added that for a while, she thought the same until Brooklyn started preschool at four years of age.
"Her preschool teachers started noticing little things because they're trained in that field," Ms Jerrick said. "So then I took her to see the people at Kurrajong Early Intervention, and that's when things started happening.
"Things started happening for us to find out now that there's something wrong."
Ms Jerrick said, through Kurrajong, Brooklyn started to see a paediatrician that came from Sydney who visited once a month.
"She started running some tests and had some genetic testing done, and ... early last year we got our first results," she said.
"The genetic testing has been going on for three years until we finally found out what it was. She was diagnosed on October 31."
Ms Jerrick said KBG manifests differently depending on the person. She added some people could display only a couple of symptoms or, like Brooklyn, they can show many.
"Well Brooklyn's symptoms, for instance, she's got an intellectual disability, developmental delay and behavioural issues," she said.
"There is a growth delay, so for instance, Brooklyn's seven years old, but she's the size of a four-year-old.
"Brooklyn's basically got no muscle tone in her stomach now. Hearing, speech, and sleep are also impacted. She also has seizures. "
Ms Jerrick said most people with KBG usually have larger front teeth, including Brooklyn.
"It's always been tough, but as hard as it is hearing a diagnosis of this type about your child, and as stressful as it can be, at least I've got answers in a way now," she said.
"She has speech therapy and occupational therapy once a fortnight, and they're also trying to get her a physiotherapist, which she's been approved for."
Ms Jerrick said to her understanding, Brooklyn is only one of five people in Australia who have been diagnosed.
It's always been tough, but as hard as it is hearing a diagnosis of this type about your child ... at least I've got answers in a way now.Amy Jerrick
Ms Jerrick said the condition was only formally recognised in 2011, adding there were not many support groups.
She has however joined one on social media that allowed her to connect with other carers and people diagnosed with KBG.
"It's tricky in a way because not everybody's going to have the same type of problems," she said. "Brooklyn's at risk of getting hip dysplasia and a curved spine once she hits puberty. But, there are other people out there that didn't even get that, so it just varies person to person."
While the seven-year-old might be dealing with KBG Syndrome, Ms Jerrick said her daughter still has a shining personality and will not be held back.
"Brooklyn's still pretty outgoing when she's around people that she knows," she said. "She's the talker child even though she's got the speech delays. If she's thinking something, she'll tell you how it is."
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