Aussie tot diagnosed with extremely rare medical condition
BLAKE Fechlie is a staff favourite at the Women's and Children's Hospital, and not just for his sunny disposition and winning smile.
The two and a half year old from Blakeview is literally one in a million.
He suffers from Alternating Hemiplegia of Childhood (AHC), an extremely rare and complex neurological condition characterised by recurring incidents of temporary paralysis, often affecting one side of the body.
Each day his parents Ali and Iain Fechlie wake not knowing if he will be able to crawl, communicate and eat, or whether he will experience severe pain, paralysis and a range of other debilitating symptoms.
Their lives, and the lives of their three other children, is a constant rollercoaster ride.
Some days it is the definition of a living hell.
"Every day is completely different. You never know what's going to happen," Ali says.
"Some days he's amazing but even then he's not walking or talking so even his best days are so tough."
Blake's episodes can last anywhere from a few minutes to several days.
His longest attack lasted 20 days straight and he needed to be hospitalised due to an inability to eat and drink.
There are less than 20 recorded cases of AHC in Australia, and Blake is the only known child in SA with the condition.
Little wonder it took well over 18 months to be diagnosed.
The Fechlie's nightmare began almost two years ago when Blake, just six months old, suffered a number of seizures.
Several times he was rushed by ambulance down Main North Rd to spend nights in the North Adelaide hospital.
"During those rides his eyes would roll out of control and he would scream like nothing we've heard," Ali says.
"We didn't know what to do for him and the doctors couldn't tell us what was wrong."
Blake was diagnosed with epilepsy and treated with a range of drugs that made him constantly sleepy and inactive.
The episodes of seizures reduced, but, over the next year, nagging away was the worry he was not developing as he should, both physically and psychologically.
On a family holiday last September things came crashing down.
Ali was heavily pregnant with her third child and Ian's fourth, a girl, Taylor, when Blake suffered a massive seizure and was rushed to hospital, where doctors were again scratching their heads.
In January this year, after increasing attacks and a further hospital visit, the family pushed for another Electroencephalogram (EEG) test.
Ali calls Paediatric Neurology Fellow Dr Romain Briest her "hero".
"He went upstairs straight away to see what he could sort out," she says.
"Amazingly there had just been a cancellation and he literally ran down to get me."
With Blake in her arms and her mother with her for support they waited for the results when a wave of medical professionals entered the room.
Grave faces told all.
"I felt panicked … overwhelmed, there were so many of them," Ali says.
"I wanted to yell 'what's wrong'? And then I felt like my body was flowing outside of myself.
"I heard someone say there was no seizure activity at all on Blake's brain - and that they had finally worked out what was wrong."
Most medical professionals will never see a patient with AHC in their career but WCH neurologist Dr Damian Clark had dealt with one child previously with the condition and another doctor present had seen a case in the UK.
A further test confirmed Blake has a mutation in the ATP1A3 gene and AHC was confirmed.
AHC - which has a high intellectual disability component - has been likened to a human time bomb for which there is no cure.
"It was such a relief they had a correct diagnosis but researching AHC we realised it was far worse than epilepsy," Ali says.
"Blake had never had a full body paralysis until two days after he was diagnosed with AHC.
"That was horrendous. They had to put in a tube (to feed him) … he was just like a dead weight and his head flopped. I hated that.
"There is no way to medically stop these episodes, we just have to wait it out with him and make sure he is safe and comfortable. He cannot be left alone at any time."
She says it is painful for the family, including Jayde, 14, and Asher, 9, to watch and know the agonies Blake is going through and to wonder what his future holds.
"The future is scary to think about and talk about," she adds.
"Some kids with ACH are doing really well but many children also experience behavioural issues like ADHD and some develop early Alzheimer's.
"My fear is he'll never speak but I think he could walk one day.
"We want to give him the best we can. Currently he spends 50 per cent of his life with paralysis and for us that's not good enough."
Blake has been prescribed the most effective medication for his condition, Flunarizine, taken once a day.
It is a special access drug and the family has to jump through hoops for a prescription and wait for a delivery from overseas.
They have considered using cannabis oil as trials have shown improvements in speech but at $500 for 25ml it is expensive and they will wait for more information before committing precious family funds to something that might be of no help.
They are leaving no stone unturned though.
The best ACH research and treatment in the world is overseas and the family is determined to get Blake there.
The family is crowd-funding hoping to raise $50,000 to take all six of them to the US.
"We feel we have to do all we can for him, and take him to the best of the best and that's to America," she says.
"Some days I feel like crumbling but raising money to go to America is keeping me going. We've already got $10,000 but there's a while to go.
"Blake is truly our little superhero, a placid, beautiful, gentle little boy.
"He has been through so much pain and suffering in his short life but still wakes every single day with a smile on his face. "He is the most resilient and inspirational person we know. We gain strength from him."
To donate, visit gofundme.com/blake039s-journey-to-the-ahc-clinic