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Page last updated at 13:21 GMT, Friday, 1 October 2010 14:21 UK
Costello Syndrome
Charlie Ward and her son Samson
Samson is one of only a few hundred people in the world with Costello Syndrome

A Cornish mother says she's optimistic about the future of her baby son who suffers from a rare genetic disorder.

Samson Ward, who's 16 months old, is one of only 300 people in the world with Costello Syndrome.

It can cause a range of health and development problems and there's no cure.

On Friday 1 October the charity Jeans for Genes, encouraged people to wear jeans to work - and donate money towards genetic research.

Samson

Samson's mother, Charlie Ward, from Porthtowan, says her son was admitted to a neonatal unit when he was born. Click on the audio link to hear Samson's story.

Charlie says: "We had a message to say the consultant wanted to see us. I assumed we were being discharged.

"When we went to see him it wasn't to be discharged.

"We were told he had something wrong with him. It was a bombshell and a major disappointment.

"Certainly the first year was really really tough. He wasn't able to do any of the things that typical babies can do. Sleeping was a major problem from the start. He couldn't sustain sleep at all.

"Although he drop off it wouldn't only ever be for about 20 minutes at a time, and that would be throughout the whole night, so we really had to tag-team."

Samson has a special feeding pump which is held in a portable back pack for his pram, whenever the family are out and about.

Charlie says: "The pump will deliver his feed, which is like a milkshake, at whatever speed and volume we set it at. It goes along this tube and straight into his tummy."

Charlie Ward says Samson will learn to get up and walk, but it will come slowly with the Costello Syndrome.

The charity Jeans for Genes funded a conference in London which allowed families and doctors to get together. The charity has promised to fund this event every two years.

What is Costello Syndrome?

Costello Syndrome was first reported in 1977 by a paediatrician in New Zealand, who described two children with similar physical features and mild learning disabilities.

There's also a characteristic pattern of growth, behavioural problems and physical appearance.

Children with Costello syndrome are born with a normal or slightly high birth weight. In a few cases, mothers report decreased foetal movement during the pregnancy and in one in three cases, there's excessive fluid around the baby in the womb (polyhydramnios).

Typical features, which become more obvious as the child grows, include:

  • Short stature
  • Delayed bone age
  • Loose, lax, stretchy skin - around the neck, palms, soles and fingers
  • Curly hair
  • Papillomata (small fleshy growths) around the mouth and nose
  • A characteristic facial appearance (wide nostrils, depressed nasal bridge, low-set ears with large earlobes)
  • Broad mouth and thick lips
  • Pigmented skin
  • Drooping of the upper eyelid (ptosis)
  • Squint (strabismus)

Affected children may have learning difficulties, but many have warm social personalities.

To find out more about Costello Syndrome, click here to visit the International Costello Syndrome Support Group.




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