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Seven Year Old Boy Diagnosed With Dementia

By Andrew ⋅ August 7, 2008 ⋅  Email This Post ⋅ Post a comment

Seven year old Ben Scott looks like any regular seven year old, but two months ago his parents were told that in the next ten years Ben will progressively lose the ability to speak, walk and even think, as the rare genetic condition known as Niemann-Pick begins to take hold of him. The disease is closely associated with dementia, presenting many of the same symptoms and signs, however the cause differs from that of Dementia where a gradual build up of cholesterol in the brain is to blame.

Niemann-Pick is so rare that only a few hundred children worldwide are known to live with it and it’s thought that no more than 2,000 people have ever been identified to have the condition. Niemann-Pick disease is caused by a faulty gene, passed down from each parent, which inhibits the breakdown of harmful fats and cholesterol in major organs. As a result of this, large and dangerous amounts of fatty substances can build up and mostly commonly form in the brain, lungs, liver and spleen. Once the volume of these fatty substances becomes significant they begin to interrupt the natural workings of the body, presenting the symptoms associated with the disease.

For Ben, things started from a very early age and his mother, Lyndsay, noticed that as a baby, Ben didn’t feed well and was continually jaundiced but after informing doctors she was told that he would grow out of this. Lyndsay’s mind was put at rest for the short term but new problems arose two years later when Ben appeared to have an impaired sense of balance and he was falling over often. Once again, Lyndsay returned to the doctors but was told that everything was fine. The problems didn’t subside there and Ben was referred to a paediatrician who, like the other doctors, assured Lyndsay and her husband Andrew that their son was a perfectly healthy young boy.

As things got worse Ben became incontinent and that, as Ben’s mother describes it, “was the last straw” and against the wishes and advice of a paediatrician, Ben was taken to see a specialist Neurologist at Bristol Children’s hospital. After numerous tests and examinations, on May 13th 2008, Ben was diagnosed with Niemann-Pick disease and his parents were told he would probably not live past the age of twenty.

Lyndsay Scott describes her son: “Most of the time Ben is a very content little boy. 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. Initially I blamed myself, especially because it’s 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.”

To make the situation even more painful and frustrating for Ben’s parents, it’s unknown whether or not their other child, Lucy also has the disease. The symptoms of the disease sometimes don’t appear until eighteen years old and because scientists have been unable to isolate the faulty gene Ben possesses, Lucy cannot be tested. Lyndsay says shes “trying not to think about it yet”.

Lyndsay and Andrew Scott are currently trying to raise awareness of the disease which affects their son. For more information about Niemann-Pick visit www.niemannpick.org.uk.

Health // TheDailyMail.co.uk

Tags: dementia, niemann-pick