A heartbroken mum says her eight year old son has stopped recognising her at the school gates after a rapid deterioration due to ‘childhood Alzheimer’s’.
Stanley Barnes, 8, was diagnosed with Sanfillipo, a condition likened to Alzheimer’s, at just 16 months old.
As he has got older his condition has started to get worse and he is now no longer able to communicate properly with his parents, or remember everyday words.
Despite remaining active, his cognitive skills are now so limited he often struggles to recognise his mum Mari, 40, when she picks him up from school.
She said: “He’s quite dramatically gone downhill this year - he’s lost all his words.
“It’s really hard, it feels like you’re losing part of him every day.
“This is rapid. Just six months ago he might have been able to acknowledge you or say something.
“It’s a bit like childhood Alzheimer’s - that’s the easiest way to describe it to someone. He’s just basically losing skills.”
‘Losing a part of him every day’
Sanfillipo has a life-expectancy between 10 and 20 years old, but at the age of just eight Mari, of Falmouth, Cornwall, says she feels she is “losing a part of him everyday”.
She said: "His first year was relatively normal. Then I saw a big change in him after that. He just stopped hitting those milestones, and we got referred to a paediatrician - so we got a really really early diagnosis.
"He’s physically able still, I do see that he’s stiffening up though, and he isn’t covering as much distance as he once did.
"He’s still in mainstream school, which is amazing and his whole day is catered to him.
"Unfortunately with teaching him language, he has lost that skill now. There’s nothing more we can really do, so you have those kinds of daily ‘bad news’ phone calls from professionals.
"He’s lost his cognitive ability at the same time as losing his speech, so although that is quite hard he doesn’t get frustrated. He’s just sort of happy as he is, he’s functioning like an eight-month-old baby now.
"He’s a big boy, he’s strong, and for somebody who’s lost his marbles essentially, he’s really quick and really agile."
Mari said when Stanley was around two years old he underwent a two year trial at Great Ormond Street Hospital where he had invasive surgery which gave her hope of a better quality of life for her son.
She explained: “They put a gate inside his body that went into his spinal column.
"They then injected that port with the enzyme that he was missing every two weeks, so that was quite full on.
"We were on that trial for two years which kind of gave us a bit of hope that it would slow down the progression of his disease a bit and give him a better quality of life for longer.
"To an extent I think it has helped Stan, he’s eight now and compared to a lot of others with his condition he’s in relatively good nick.
"We are just trying to give him as many joyful experiences as possible. I’m no longer trying to teach him new skills, but we are trying to maintain ones he has already learned."
This included taking on a challenge of walking ten miles over a week for Children in Need last year, and appearing on the live show after raising almost £5,000.
The family hopes to raise more awareness of Stanley’s condition to try and help others going through a similar experience.
Creating as many memories as possible
Mari said she and her husband Ross, 44, spent much of Stanley’s early years giving him as many experiences as possible, including a trip to Lapland with the Make a Wish foundation, after receiving the devastating diagnosis.
She explained: "Having received the news when he was only sixteen months old, that was the point when it was hardest and when I googled everything I could possibly learn about the disease.
"It was horrific, just awful, but at the same time it wasn’t this little boy that we had in front of us. It certainly wasn’t our story yet."
"The minute I leave the house I have to hold his hand, otherwise he just goes off in a different direction.
"Like with Alzheimer’s, he has some early memories he recognises. Like if we walk past the nursery for example he sometimes tries to go in, and he remembers songs we used to sing to him because his face lights up.
"He loved Frozen for example, so if that ever comes on the TV he gets so excited and might stand up and jump and yell around the TV.
"I don’t know how much longer that will last though."
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