EXCITEMENT turned to heartbreak the day Angela Degn visited the doctor to learn the sex of her baby.
The sonogram revealed she would have a boy but it also showed he would be born with fibular hemimelia.
The birth defect is a condition where integral bone structures are missing from her son Khye's right leg.
The disorder is so rare it affects just one in 40,000 children.
At 15 months old, Khye is unable to walk as a result of the condition.
"When he does try to walk, his foot goes off to the side," Ms Degn said.
"He just doesn't have the balance."
Doctors in Australia said amputation was the Leichhardt toddler's best option.
But Ms Degn and her partner, Matthew Freeck, were determined to save their boy from losing his leg.
"Once the doctors gave their diagnosis, I researched on the internet to see if anything else could be done," Ms Degn, 23, said.
"I just wanted my son to live a normal childhood with his own leg."
Thankfully the family has found hope overseas, with a US-based specialist offering leg lengthening surgery with promising results.
The procedure is offered by Dr Dror Paley, an internationally renowned limb lengthening and deformity correction surgeon.
Dr Paley has successfully performed the surgery before on Gold Coast youngster Demi Reilly - his first Australian patient.
Demi's dad, Simon Reilly, said his daughter had the same condition as Khye and underwent the unique procedure when she was 14 months old in 2011.
Mr Reilly said Demi, now four, was running, walking and jumping like any other normal child her age.
He said patients from across the world were coming to see Dr Paley for the special treatment he developed.
Unfortunately the procedure doesn't come cheap - likely to cost about $200,000.
With Khye's surgery scheduled for January 2015 in Florida, the family has six months to raise the amount.
Ms Degn said she had been busy trying to obtain the money through donations and fundraising endeavours.
"We've received a lot of support and have so far generated $8000 but we've still got a long way to go," Ms Degn said.
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