Young Louis a press ball winner
WHEN Louis Bolton was born fifteen years ago a keen eyed paediatrician spotted a slight abnormality with his thumbs and big toes.It turned out that Louis had an extremely rare disorder affecting just one in 300,000 people.
By Jessica Nicholls
WHEN Louis Bolton was born fifteen years ago a keen eyed paediatrician spotted a slight abnormality with his thumbs and big toes.
It turned out that Louis had an extremely rare disorder affecting just one in 300,000 people.
He had been born with Rubinstein-Taybi syndrome – a condition which has left him unable to speak, delays in his development and behavioural problems.
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Things are getting better for Louis and his family now that he has the benefit of sign language but life is unlikely to ever be normal for him or them.
There is no cure for the condition, no tablets to take to ease the symptoms and only the love of his devoted family to help him through life.
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His mum Sue, from Melford Road, Stowmarket described how life has been since the birth of her eldest son.
She said: "It has been very difficult. He had lots of behavioural problems at the start.
"It is very difficult to keep him occupied and he finds it difficult to concentrate on things."
But Louis has now benefited from money raised by the Evening Star Press Ball which has been organised with Ipswich based charity Disability Care Enterprise.
The target is to raise £20,000 to help youngsters around the county to help them have a better quality of life and buy them equipment that is not available from the NHS.
For Louis that equipment is a computer that can help him interact and stay interested for hours on end.
At the Riverwalk School in Bury St Edmunds, Louis uses special software that helps his hand-eye co-ordination and his mum Sue is now hoping to be able to provide that software at home.
Like any other teenager, Louis loves to go on the computer for hours but Sue knows that all it can do is help him.
She said: "The computer has been such a great help – it is educational and it is fun for Louis.
"I can't get him off it at the moment.
"It is good because it gives him something else to do."
His condition is a genetic one and while most youngsters are diagnosed when they are around fifteen months old, Louis' was diagnosed at birth.
Sue, 38, said: "The Paediatrician just happened to be at the birth and he noticed there was something not quite right.
"His thumbs and big toes were just broader than normal.
"It is lucky the paediatrician was there or it might not have been picked up."
Louis also has autistic tendencies and routine is important to him.
Sue said: "If Louis is in a routine everything is OK.
"We have to be in the same routine doing the same thing at the same time everyday.
"As long as Louis knows where he is everything is OK."
But for his younger sister and brother Hannah, 13 and Andre , nine, that does not come as a problem.
Sue said: "They have never known any different. Louis is just Louis.
"In a way I think it is good for them because they know that not everyone is perfect."
Although he had behavioural problems when he was younger, Sue said that Louis is now much better.
She said: "It was mainly frustration.
"He could not express himself because he had no speech, especially when he could not understand what was going on.
"But as he got older it got better because he learned sign language."
Because he has co-ordination problems Louis will never be able to play his favourite sports of tennis and snooker – but he loves to watch them on television. He also loves going horse riding.
Educationally, Sue said Louis is very behind other children of his age group.
She said: "He knows what is going on around him but in a very simplified way.
"He gets on well with all the other children at his school and is quite a loveable chap – he is very happy and other people respond to him very well.
"I probably don't have as much trouble with him as I would with any other teenager his age!"
FACTFILE: Rubenstein-Taybi syndrome refers to a pattern of physical features and developmental disabilities.
People with the syndrome are short in stature, have developmental delay, similar facial features and broad thumbs and toes.
Since the condition was first described in 1963, by Dr Jack Rubenstein and Dr Hooshang Taybi, there have been more than 400 people reported with the syndrome.
It is estimated that one out of 300,000 people has the syndrome.
There are no medical tests for specifically diagnosing the syndrome- the only way to know is by noting the characteristic physical features: small head size, thick scalp hair, slanting eyes, prominent nose, small mouth and high arched palate.
www.rubenstein-taybi.org for further information about the condition.