WHY Franki Moura is unable to sit, stand, walk or talk at 15 months of age remains a mystery.
He is among a group of people who are supported by Syndromes Without a Name (SWAN) while awaiting diagnosis.
Franki’s mother, Vera Moura, said scans late in her pregnancy failed to pick up that his skull had fused prematurely and she was allowed to attempt a natural labour when she should have had a booked caesarean.
That 36-hour labour followed by an emergency caesarean section was just the beginning of a long journey to understand Franki’s condition.
At three months, he had surgery to separate his skull and insert two springs so his brain could have room to grow.
As a family, they are hoping to attend up to three world renowned therapy centre NAPA programs next year, costing $10,000 each, that would provide intensive treatments for Franki to acquire new skills.
To raise funds for the NAPA programs, associated travel to Sydney and the additional tests, the family has set up a crowd funding campaign through chuffed.org and competed in the recent City to Surf.
A movie fundraiser showing of Bad Mums has sold out for November and the Portuguese Club will host a fundraising dinner on September 23, with tickets still available.
At the moment, under NDIS, Franki has access to the equivalent of just one hour of therapy a week.
“At Ward 5 at PMH, most families have gone to NAPA and they say really good things,” Mrs Moura, of Munster, said.
Franki is the younger of two children and Mrs Moura said dealing with the uncertainty was like “being in a constant state of free fall”.
“Not knowing does my child have a degenerative disease, will it shorten his life expectancy – it’s really day to day,” she said.
“He’s not a very social child; he doesn’t smile much but when he does it’s the most beautiful thing.
“It’s just finding your new normal.”
Franki has his own website. Visit franki julesmoura.net or look up Franki Jules Moura on Facebook for more information.