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Saturday, May 10, 2008

Boy, 2, suffers from Children’s Alzheimer’s

A rare genetic disorder has left a two-year-old with a form of dementia, a disease more normally associated with the elderly.


Taylor with parents Dave Smith and Stephanie O'Hara

Taylor Smith, from Barrow-in-Furness in Cumbria, has been diagnosed with Niemann-Pick Type C, also known as Children’s Alzheimer’s.

The disease means that the toddler is likely to develop signs of dementia before he becomes a teenager, although the symptoms can appear at any time.

Stephanie O’Hara, 22, Taylor’s mother, described the disease as like “living with a timebomb”.

She said: “We know what’s going to happen and we have to sit back and wait for the symptoms to show. I have to watch out for Taylor becoming clumsy or unsteady on his feet, as these will be the first warning signs.

“It’s heartbreaking to see Taylor learning all these new skills but knowing they will be taken away from him as the disease sets in.

“But we are just taking each day as it comes and trying to make Taylor’s life the best it can be.”

Shortly after he was born Taylor’s parents were told he had an enlarged spleen and liver, other common symptoms of the disease.

But it was not until he was 14 months old that Stephanie and her partner, David Smith, 23, discovered that he had inherited the rare condition.

Around 600,000 people in the UK have been diagnosed with dementia, of which Alzheimer’s is the most common form of the disease.

The main symptoms of Niemann-Pick Type C are similar to those associated with Alzheimer’s, including neurological deterioration, often combined with difficulties with co-ordination and balance.

Speech can become slow and slurred and patients can develop troubling swallowing.

Niemann-Pick is caused when both parents pass on a faulty gene to their baby.

In each pregnancy there is a 25 per cent chance that the gene, which causes harmful amounts of fatty substances, known as lipids, to build up in the liver, spleen, bone marrow and the brain, will be transferred.

The condition is extremely rare and there are thought to be only around 70 sufferers in the UK.

A spokesman for the Neimann Pick Disease Group said that the disease was progressive and often meant an extremely limited lifespan for the sufferer.

There is no known cure.

Original here

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