Falmouth mum raises awareness of 'childhood Alzheimer's' Sanfilippo

Brave Falmouth schoolboy Stanley Barnes was diagnosed with Sanfilippo, a condition likened to Alzheimer's, that means he can now no longer communicate with his parents or remember everyday words like 'apple'.

And although he remains active, mum Mari Barnes, 40, says his cognitive skills are now so limited he often doesn't even recognise her when she picks him up from school.

Stanley was first diagnosed with the condition aged just 16 months but has started to deteriorate and Mari says she feels like she is "losing a part of him everyday."

She has now spoke out to raise awareness of the rare condition and pay tribute to the bravery of her son.

Mari, ,who lives with her family in Mawnan Smith, 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 each 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.

"Over the weekend he had a burger, and managed to say the word burger, and honestly I nearly cried. We haven't had that recognition or anything for quite some time.

"It makes it all the more special to know that he is still in there."

Stanley was diagnosed when he was about 16 months old and the condition has a life-expectancy between ten and 20.

The family say when Stanley was about two he underwent a two year trial at Great Ormond Street Hospital.

Mari added: "It was really quite invasive, 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.

Unfortunately this was ended, without notice, back in 2016.

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• Parents of Stanley Barnes left devastated by drug company's decision to end enzyme trial

Mari added: "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."

She said this included a challenge of walking ten miles over the space of a week for Children in Need last year. They even appeared on the live show after raising nearly £5,000.

The mum said she now wanted to raise awareness of Stanley's condition to help others going through a similar experience.

She added: "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.

"A lot of children don't get diagnosed until school age, people tend to just think the child might be autistic, but then it's bizarre because they'll have the word for 'apple' one day and then not have that word the next day. Or they might have forgotten how to do a task like pick a pen up, things like that – so those are the alarm bells around it all.

"His cells are lacking in enzymes that clean out toxins, so as he gets older those toxins get built up – and so everything starts to shut down.

"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 – but we've got the liveliest dog on the planet to help keep him going walking every day.

"He's still in mainstream school, which is amazing and his whole day is catered to him.

Stanley with his family Picture: SWNS

"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.

"We know he's losing skills, but then the fact he can still walk ten miles and raise five grand for charity shows he still has such an effect on people. He's so positive.

"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 she and her husband Ross, 44, spent much of his early years giving him as many experiences as possible that included a trip to Lapland with the Make a Wish foundation.

She added: "Having received the news when he was only 16 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."