A young Canberra family is calling for awareness and fundraising so people can learn more about an extremely rare genetic condition that has put a smile on their child's face.
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Samantha Jayne and her husband Andrew Irons felt anxious and confused when doctors diagnosed their newborn son Jacob with Potocki-Lupski syndrome.
The syndrome, which is the result of a chromosome duplication, was first diagnosed in 1996 and is associated with developmental challenges in childhood.
But in a twist of fate, the condition is also known to cause babies to smile more than usual and be happy, sociable children.
"It was quite a relief for us to see him start to smile just a few days after birth and he's just kept smiling ever since – it's one of the beautiful things about him," Ms Jayne said.
Founder of PTLS Foundation Julie Smith-Centeno said more than 2000 people had been diagnosed with the rare condition, which is observed in around one in 20,000 people.
"This duplication disorder can bring about several health conditions that need to be monitored and managed, but are not life threatening," she said.
"Along with the health concerns, patients with PTLS often have low muscle tone, poor feeding, and fail to thrive during infancy however these concerns become minimal as the child grows into the early teens and into adulthood."
Ms Jayne said she found the diagnosis very confronting at first given the lack of available information and advice.
"We were worried about the quality of life for our child and it was very difficult because we didn't know what to expect," she said.
"We started to suspect there was something unusual during the pregnancy as I wasn't putting on weight, in fact I was losing weight."
Smith-Centeno said awareness of the syndrome would lead to proper medical attention and therapy needed to help children achieve their goals.
"With awareness early intervention can begin which is critical in helping to get the child off to a great start," she said.
Ms Jayne said it was important for parents who suspected their child had PTLS to know there was a support network available.
"It was traumatic because we were constantly dealing with the unknown but I've come across an international community and, through connections with other families, we've been able to access more information," she said.
