Mari Barnes, 40, claims her eight-year old son Stanley doesn’t know who she really is when she takes him to school. He was diagnosed with a rare condition as a toddler.
Mari Barnes, a proud mom, is always happy to see her son Stanley playing with his friends when she visits the school playground every afternoon.
Instead of running to her, she confronts the painful reality that he doesn’t recognize her and can’t pick her out from the crowd of other parents.
Little Stanley, eight years old, has Sanfilipo. It is a brain condition similar to Alzheimer’s.
The cruel condition was first discovered in him at 16 months. It was devastating for Mari and Ross (44 years old).
Stanley’s condition has worsened and he has lost the ability of communicating with his parents. He has also forgotten simple words such as “apple.”
Mari, a Falmouth, Cornwall resident, stated: “He’s quite dramatically gone downhill this year – he’s lost all his words.
“It is really difficult, you feel like you are losing a part of him every day. This is fast, six months ago he may have been able acknowledge you or to say something.”
Although Stanley’s condition is complex, Mari describes it as like “childhood Alzheimer’s” which causes him to lose skills as his cognitive ability declines.
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She said: “He will not let me leave the house unless I hold his hand.”
Devastated Mari added: “Over the weekend, he had a hamburger and was able say “burger” almost to the point of crying. Since then, we haven’t experienced that level of recognition.
“It makes it all the more special to know that he is still in there.”
Stanley has a terrible illness that means his life expectancy ranges between 10 to 20 years. His family plans on making the most of each day with Willow, 11, and Orson, 6, in order to make the most out of their lives.
Mari claimed that Stanley’s cognitive ability is at an eight-month-old level.
Mari and Ross, desperate for a cure, enrolled Stanley in a medical trial at Great Ormond Street Hospital.
She described: “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.
“The trial lasted for two years, which gave us some hope that it would slow down his progression and allow him to live a longer life.”
The mum reckons the trial did help Stanley a little, as he seems to be in better shape than other kids his age with Sanfilipo.
However, the family is taking each day as it comes, making sure Stanley enjoys everything he does.
“We just want to offer him as many joyous experiences as possible.” Mari said. “He is not learning new skills, but I am trying to keep the ones he already has.”
One such skill was encouraging little Stanley to walk 10 miles over the space of a week last year to raise money for Children in Need – raising an incredible £5,000 and even appearing on the show.
Mari is now sharing her parenting experience with Sanfilipo in order to make others feel less alone.
She stated: “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.
“Most children don’t reach school age before being diagnosed. This is because people think they might be autistic. But it’s strange that they will have the word “apple” one day, and not the word the next. They might forget how to pick up a pen, or other tasks.
“They have shorter limbs, and larger eyebrows, and a blackened nose bridge – it looks quite sweet in a way – but it can get stronger as they get older. It’s just a result of the disease.”
She explained how the condition affects the brain: “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.”
Mari noticed Stanley’s inability to physically do many things. “stiffening up”He isn’t able to walk as far as he used to.
His parents decided to keep him at the mainstream school, and they hope that he will stay there for as long as possible.
“Unfortunately with teaching him language, he has lost that skill now,”Mari said. “There’s nothing more we can really do, so you have those kinds of daily ‘bad news’ phone calls from professionals.
“Although we know he is losing his skills, the fact that he can still walk ten-miles and raise five grand for charity proves that he has an impact on people. He is so positive.”
Recalling the day she found out about his diagnosis, Mari said it was “It is horrible” – but she was determined not to waste any time with him.
She said: “It wasn’t the little boy we had before us. It wasn’t our story yet.”
Although Stanley has declined rapidly during the last six months, Mari says there are glimmers of him that shine when he remembers something.
She explained: “As with Alzheimer’s, there are some childhood memories that he can recall. As an example, he may walk past the nursery and try to go in. His face lights up when he does this.
“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.”
Mari and the family admit that there is no guarantee. “I don’t know how much longer that will last.”
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