SAMANTHA and Leon Shaffer value every day they have with their son Nate.
The East Victoria Park resident (2) is living with the rare disease Trisomy 18 and is believed to be the only surviving person in WA living with the condition.
It means he has three chromosome 18s which have caused developmental and intellectual delays.
Mrs Shaffer said during a 12-week scan the doctors found there was a high risk of Trisomy 18 and at the 16-week mark it was confirmed.
“The doctors told us the condition was incompatible with life and they gave us the option to terminate the pregnancy but we couldn’t do that,” she said.
Mrs Shaffer said even though Nate was given a 10 per cent chance of surviving, they wanted to get him a chance.
“We decided to let Nate write his own story and we celebrated each week of pregnancy and now we celebrate each week that he is with us,” she said.
“The doctors were quite sceptical when he was first born; they didn’t believe he was going to be with us for a long time but by three months we all accepted he would be with us for a while.”
Mrs Shaffer said among the issues Nate deals with is his cardiovascular system, orthopaedic issues with his hip and an inability to swallow, so he needed to be fed by a tube.
“He struggles to use his own body and to keep up his own head because he doesn’t have much core strength, but in the past six months he has been able sit up by himself, |although he can’t walk or crawl,” she said.
“The global developmental delays mean he is more like a six-month-old baby; he can do oohs and ahhs but he can’t speak any words.
“He does physiotherapy, occupational therapy and speech therapy. It’s quite expensive – one physio session costs $175.”
The Shaffer family want to send Nate to the Neurological and Physical Abilitation (NAPA) Centre in Sydney next year, where would do more intense physiotherapy.
We know people who have been to the NAPA Centre and had excellent results, it involves intensive therapy to meet goals and milestones sooner than you would normally expect,” Mrs Shafer said.
“Rather than one 45 minute session per week, there are sessions every day for three weeks.
“The NAPA Centre originates from California but they had a pop-up in Melbourne and now they are holding a pop-up in Perth but they only had 13 places and 300 applicants.
“We are fourth on the waiting list so you don’t know if someone might pull out but in the meantime we are planning to go Sydney in March.
“It will cost $10,000 so it’s not cheap.”
To help the Shaffer family, visit https://chuffed.org/project/send-nate-to-napa.
The family will hold a fundraiser at Reading Cinemas Belmont, further details will be announced on www.celebratingnate.com.