A HEARTBROKEN mother spoke of her grief after her son became unrecognizable due to his debilitating health condition.
Boy Stanley Barnes was diagnosed with ‘Childhood Alzheimer’s’ at the age of 16 months and no longer recognized his mother Mari Barnes at the school gate.
Now 8, Stanley is living with Sanfillipo, a condition that has been likened to Alzheimer’s disease, which means he can no longer communicate with his parents or remember everyday words.
While he’s still active, his mother, Marie, 40, says she feels like she’s losing a part of him on a daily basis.
She is now telling her story to raise awareness of the condition, as she says her son has gone downhill “significantly” this year.
Mari, of Falmouth, Cornwall, said: “He lost all his words.
“It’s really hard, it feels like you’re losing a part of him every single day. This is so quick, just six months ago he could have acknowledged you or said something.
“It’s a bit like childhood Alzheimer’s – that’s the easiest way to describe it to someone. He’s basically losing skills.
“Over the weekend, he ate a burger, and spoke the word burger, and to be honest, I almost cried.
“It makes it all the more special to know that he’s still there.”
The condition has a life expectancy of 10 to 20 years, and when Stanley was two years old, his family said he underwent a trial at Great Ormond Street Hospital.
Marie said that the test was quite invasive and involved placing a portal inside his body into his spine.
“Then they injected that port with the enzyme he was missing every two weeks, so it was pretty full,” she explains.
“We were in that trial for two years, which gave us some hope that it would slow the progression of the disease a little bit and give him a better quality of life for a while.” longer time.”
“To some extent, I think it helped Stan, he’s eight years old now and compared to many other people with his condition, he’s in relatively good shape.
“We’re just trying to give him as much fun experience as possible. I’m not trying to teach him new skills anymore but we’re trying to maintain the skills he’s already learned. Okay.”
WHAT IS SANFILIPPO SYMPTOMS?
ALSO called MPS III, Sanfilippo syndrome is a degenerative disorder.
Children diagnosed with this condition are missing an enzyme, which is needed to break down sugar molecules in the body.
These substances then accumulate in the body and can cause progressive damage.
Newborns may show few signs of the disease.
However, as more and more cells are damaged, symptoms begin to appear.
There is currently no cure for Sanfilippo syndrome, but in the US, the FDA has approved enzyme replacement therapy to treat some forms of MPS.
Each child will show different symptoms, but parents may notice that their child is regressing.
They will lose the ability to speak and understand, and those trained to go to the bathroom often lose that ability.
As children get older, the use of MPS III slows down.
They become unsteady on their feet, and will often fall while walking or running.
They will eventually lose the ability to walk.
This includes the one-week Children’s Needs 10-mile walk challenge that was tackled last year, says Marie.
Stanley even appeared on the show after they raised nearly £5,000 and Marie now wants to raise awareness of Stanley’s condition to help those in the same situation.
She added: “His first year was relatively normal. Then I saw a big change in him. He didn’t hit those milestones anymore and we were introduced to him. a pediatrician – so we had a really early diagnosis.”
“A lot of kids aren’t diagnosed until school age, people tend to just think the kid might have autism, but then it’s weird because one day they’ll have the word ‘ apple’ and then there’s no word there anymore.
“Or they might have forgotten how to do a thing like pick up a pen, things like that – so those are the alarm bells all around.”
Marie adds that there is a ‘look’ to people with Stanley’s condition and says this often shows up as shorter limbs and larger eyebrows.
We know he’s losing skills, but the fact that he’s still able to walk ten miles and raise $5 for charity gigs still has such an impact on him. everyone. He is very positive
“It looks pretty sweet in a way – but it can get stronger as they get older,” she said. It is just the result of the disease.
“His cells lack the enzymes to get rid of toxins, so as he gets older, those toxins build up – and so things start to stop working.
“Physically he may still be healthy, I see that he’s stiffening up and doesn’t go as far as before – but we’ve got the liveliest dog on the planet to help. he walks every day.”
Stanley is still in high school and spends his days with him.
“Unfortunately with teaching him the language, he’s lost that skill now. There’s really nothing we can do about it, so you get daily ‘bad news’ phone calls from professionals. .
“We know he’s losing skills, but the fact that he’s still able to walk ten miles and donate $5 to charities, he still has the same influence on everyone. person.He is very active.
“He lost his cognitive ability at the same time as he lost his ability to speak, so although it was quite difficult, he was not discouraged. Marie said.
Mari praises her son for being strong and agile.
‘UP TO HIS FACE’
Mari and her husband Ross, 44, spent many of Stanley’s early years trying to give him as much experience as possible.
This includes a trip to Lapland with Make a Wish.
She added: “Received the devastating news when he was 16 months old, that was the most difficult time and when I searched everything I could to find out about the disease.
“It’s horrible, it’s horrible, but at the same time it’s not this boy that we have in front of us. It’s certainly not our story yet.
“The minute I left the house, I had to hold his hand, or he would just go in another direction.
“Just like with Alzheimer’s, he has some early memories that he recognizes. For example, if we were walking past the nursery, he would occasionally try to go in and he would recall songs. we sang to him because his face lit up.
“He loves Frozen, for example, so if that comes on TV, he’ll be super excited and probably get up and jump and scream around the TV.
“I don’t know how much longer that will last.”
https://www.thesun.ie/health/8302937/little-boy-doesnt-recognise-me-lose-another-part-him/ My boy doesn’t recognize me anymore