Dementia At 7 Years Old

Ben Scott developed dementia at SEVEN

One family reveals their truly heartbreaking story

04th August 2008

Like any proud dad, Andrew Scott loves to take pictures of his son, seven-year-old Ben. There’s Ben running around a field playing catch with his three sisters; Ben screaming with delight on the water ride at an adventure park; Ben sitting on the back step, splashing a bucket of water.

But over the past three months Andrew’s photography has become something of an obsession. He has taken literally hundreds of pictures of Ben, trying to capture every day of his son’s life, part of a project he calls the Book Of Ben.

‘We went away on holiday recently and I took 400 shots, almost all of Ben. Click, click, click – I couldn’t stop,’ says Andrew. ‘It’s his smile I’m trying to get. I want it on film so we never forget . . .’

Fading: Ben Scott, here at the age of about 2, will lose his ability to smile or even recognise his parents

Two months ago Andrew and his wife Lyndsay, who live in Yeovil, Somerset, were told their son has a form of dementia.

At just seven, Ben is facing the kind of harrowing decline we associate with old age. But he’ll be lucky to live to 20.

Already, his speech is slurred, and within a few years he will be unable to walk, speak or recognise those closest to him, trapped in his immobile body, unaware of anything around him.

His parents will only be able to look on as their lively boy slowly but inexorably fades.

Ben’s condition has been caused by Niemann-Pick, a rare genetic disorder which affects only 500 children worldwide. It occurs as a result of the build-up of cholesterol in all the body’s organs, including the brain, effectively stopping them from performing their job, causing a progressive loss of mental faculties as well as problems with movement.

‘I don’t know which is harder, that Ben is going to die, or that it will get to the stage where Ben won’t know who I am,’ says Lyndsay, 30, a full-time mother.

‘I don’t want to think about the day that his eyes stop shining; the day I’m caring for Ben – cuddling, feeding and washing him – but the Ben we know isn’t in there any more. I dread the day he won’t smile at us.’

What makes the disease even more cruel is that the pace of deterioration is so unpredictable.

‘We know Ben will lose skills like eating, talking and smiling, but we don’t know when,’ she says. ‘It could be in six months or six years.’

But already over the past year the changes have begun to speed up, explains Andrew, 33, a sales manager.

‘Last summer Ben was able to go to the toilet; he is now incontinent. Two years ago he could run around with his sisters; now he needs the help of a walking frame. He is less responsive than he was. He can still communicate but his speech is slurred.’

Cruel family ties

To make matters worse, the genetic condition might also affect their daughter Lucy, who is 18 months younger than Ben.

Doctors have not yet been able to pinpoint the exact form of gene mutation Ben has. Until they do, they cannot test Lucy – it is a case of watch and wait.

‘At first we thought she’d be fine because she’s older than Ben was when he first developed symptoms, but now we’ve been told it can strike at different ages and she might not have symptoms until she is in her teens,’ says Lyndsay. ‘I’m trying not to think about it.’

Lyndsay had known from early on that there was something wrong with Ben (she has two other daughters, Gemma, 12, and Charlotte, ten, from a previous marriage).

‘Something wasn’t quite as it should be,’ she says. ‘I didn’t know what it was, but as a baby he didn’t feed well, wouldn’t put on weight but had a bloated tummy and was jaundiced. Whenever I mentioned my concerns to a doctor they’d just say: “Oh, it’s a boy thing, he’ll grow out of it.” ‘

‘We were seen as panicky parents,’ adds Andrew. ‘But we were sure something was wrong.

When it came to walking he took his first steps at 17 months, but by two-and-a-half he’d constantly fall over, as if tripping over something that wasn’t there. He always had bruises and cut knees. Again, the doctor just said he was clumsy and generally delayed.’

‘His speech was also slow,’ says Lyndsay. ‘By the time he started primary school, Ben could communicate and put three or four words together but they were quite slurred. His fine motor skills were also very poor. He couldn’t hold pencils.’

Ben’s teachers expressed concern, so the Scotts contacted their local child development centre. After an eight-month wait, they saw an occupational therapist, who referred Ben, then five, to a paediatrician.

When the paediatrician saw Ben seven months later, again the Scotts were told there was nothing to be concerned about, that his development was just a little bit delayed.

Ben’s unforeseen decline

But over the next year Ben fell more and more behind at school. At six, when other kids were reading and writing, Ben still couldn’t hold a pen because his fine motor skills were so poor and he could only recognise the letters B and E. He was also losing his ability to run and had become incontinent.

‘The incontinence was the last straw,’ says Lyndsay. ‘We knew that wasn’t right. Through a fantastic support group called Special Kids, I was advised to get Ben checked out by a neurologist. The paediatrician said there was no need, but we insisted.’

On April 29, Ben met Dr Philip Jardine at Bristol Children’s Hospital and was admitted for scores of tests including an MRI scan, and bone marrow, muscle and skin biopsies. Two weeks later Dr Jardine rang with the results.

‘He said he couldn’t talk over the phone but that we should come and see him as soon as possible,’ says Andrew.

‘The first appointment was short. Dr Jardine explained the tests showed Ben had deposits of cholesterol around his organs caused by Niemann-Pick. Then he said: “Ben will die from this between the ages of 15 and 20.”

‘We were speechless. Finally I asked him if he was sure and he said 99.99 per cent so.’

‘He handed Lyndsay some tissues and I asked for some, too,’ recalls Andrew. ‘We were numb and sat in the car on the way home without talking. How could our seven-year-old have dementia? That’s what old people get.’

There are three forms of Niemann-Pick Disease: Type A, B and C. Each affects the way the body breaks down fat and are caused by genetic mutations passed down from the child’s parents, who must both be carriers of the defective gene but may have no symptoms themselves.

Type A rapidly affects the brain and usually causes death before the age of three. Type B affects the liver, spleen and respiratory system and sufferers can survive into adolescence or adulthood.

Type C, which Ben has, is the most common. Because of a faulty gene, the body doesn’t produce the enzyme needed to break down cholesterol.

The build-up in the organs, including the brain, liver and spleen, causes a massive deterioration, leading to mental and physical problems (unlike adult dementia sufferers, whose problems are largely mental).

Symptoms set in

The Scotts have done all they can to find out more about the condition and what the future holds for Ben. But because it is so rare, it’s hard to gather information.

‘The doctors just don’t know how bad he is,’ says Andrew. ‘Some children develop it at two and live past 15, some get symptoms at 18 and live to 30, some die by the age of four.’

But the condition has a certain pattern – the cholesterol around the brain starts to disrupt the signals to do with movement, affecting coordination.

Ben already falls over a lot and finds it hard to walk. Eventually, he won’t be able to swallow properly and food will get into his lungs, raising the risk of pneumonia, so he will need to be fed through a tube. In some cases, the cholesterol around the liver can cause liver disease.

His memory will start to fade as his brain function deteriorates. Then he will suddenly lose the ability to walk, talk and feed himself. In the final stages the sufferer is immobile and unaware of the world around them.

As with adult dementia, there are currently trials into drugs that might help symptoms, but there is no cure.

‘Right now his symptoms are a bit like he’s drunk a bottle of vodka,’ says Andrew. ‘It’s quite hard work for him to do anything, even very small things. A small walk takes a lot out of him.

‘His memory about people and things is still pretty good. He knows exactly who we are and knows we are going on holiday soon, so every morning he asks: “Are we camping today?”

‘But eating is the area we really need to watch at the moment. He puts food in his mouth but he forgets to chew. We have to rub his mouth to remind him.

‘He also has learning difficulties; he can count to five, or ten on a really good day, but those were things he could do at three or four. And his mobility is much, much worse. When he stands up, we need to remind him to move one foot forward in front of the other.’

The only blessing

The only blessing in all this is that Ben doesn’t understand what’s going on – because of the disease, intellectually he’s never advanced beyond the age of four, and he now attends a school for children with special needs.

But he is a happy child.

‘Most of the time Ben is a very content little boy,’ says Lyndsay. ‘But sometimes he gets frustrated when he can’t do things he used to do. He loves building towers out of wooden blocks, but as he gets older and his skills become less, he’s finding it harder and harder to build the towers; they keep falling down.

‘Other times he’s like a normal little boy. We take him to an adventure park where there’s a log flume water ride and he loves it. He really loves the thrill, the adrenaline. His face lights up just like any other seven-year-old. It’s hard. The other day I was in the supermarket and I had tears streaming down my face. Some days it’s overwhelming.

‘Initially I blamed myself, especially because it was genetic. And I’m trying to come to terms with the fact that I’ll outlive my child. It feels surreal. I have to keep reminding myself, that this is happening to us. It’s like I’m talking about someone else’s life.’

The only practical thing the Scott family can do is raise awareness of the condition so that other families don’t have to wait years for a diagnosis.

‘Having a diagnosis has made a huge difference, it’s meant we can get him all the help he needs,’ says Lyndsay.

The Scotts still get upset thinking about the days he was in a mainstream school, sitting in dirty nappies, unable to take part in what was going on around him. These days they do all they can to make the best of every day.

‘I find myself constantly looking at his face when he smiles, so I can remember him that way,’ says – Lyndsay.

‘As a mum, you could be up all night with your six-month-old, but one smile from your baby and everything is forgiven. I want to remember every one of Ben’s smiles. I want to remember that in his head, Ben is happy. Today is the best he is going to be, and we have to love every minute. Every day is about making memories of the time we have.’

And with that, Andrew strokes his darling boy’s legs and takes another photograph.

• For more information contact the Niemann-Pick Support Group (UK), 0191 415 0693 www.niemannpick.org.uk.