She can't cure him, but she can make him smile
AROONA'S Sophie Cashen cannot make her six-year-old son Miller walk or talk again but she can make the world a better place for him every day he has left in it.
Life changed forever for Sophie and Miller in August last year when he caught a cold, and began experiencing some involuntary movements.
Sophie initially put them down to his autism, or maybe a new habit, but within 10 days, Miller went from being his normal self to being unable to walk, eat or speak properly.
He was initially diagnosed with a tic but Sophie was not convinced and eventually doctors sent him for an MRI which showed deposits of calcium and iron in part of his brain.
A subsequent chromosome test led to a diagnosis of PKAN - pantothenate kinase-associated neurodegeneration, a genetic condition which affects one in a million people at most.
The diagnosis of the progressive degenerative condition has meant Sophie has had to face the likelihood that her little boy might never grow up.
"It's been pretty crazy," Sophie, a single mum, said of the roller-coaster ride since then.
"He goes through periods of time when he's okay. His main issue now is that he aspirates a lot. When he's sick, he sucks in a lot of saliva," he said.
Miller is recovering from a recent bout of aspirational pneumonia but was able to go back to school today, much to his excitement.
Sophie draws strength from her son and the way he has coped with his changing body.
"I've never met anyone who is so strong and so adaptable. He just goes with it. He takes it for what it is. He never once complained when he couldn't walk any more or couldn't eat any more," she said.
"When he's happy, he just smiles. I'm really grateful for that."
"That's the only thing that keeps me going is his happiness. My main priority is making sure his life is great and it's fun."
Even the smallest occasion has now become reason for a family celebration.
"He's taught us that tomorrow is not promised to anyone. You definitely need to make the most of today," Sophie said.
To raise awareness of PKAN, Sophie has started a Facebook page, Millers Journey with PKAN - NBIA. See https://www.facebook.com/Millersjourneywithdisabilities/?fref=nf
Fundraisers are being planned to get Miller and his family to a PKAN conference in Chicago next year, and to contribute to research for a cure. Go to https://www.facebook.com/groups/2041983066027151/
The fundraising starts with a charity motorcycle ride from Maroochydore to Aussie World via Montville and Landsborough this Sunday, November, 6, at 7am for 9am start. Cost is $10 a bike.
Two sisters who are friends of the family are planning to cut their long hair in February to raise money for their little mate, Miller. See https://www.gofundme.com/cut-for-miller
To donate towards a cure for PKAN, go to http://www.ameliacragenpkancure.com/