Special event held in Highgate for young sufferers of rare genetic condition Phelan-McDermid Syndrome

The mother of a Highgate child with a rare genetic disorder which affects only 800 people worldwide, has organised an event to bring sufferers together.

About 200 people from eight different countries travelled to London to attend the Phelan-McDermid Syndrome UK Family Day last Saturday at Konstam Children’s Centre in Highgate.

Diagnosed

The syndrome is caused by deletions or rearrangements of a chromosome which often results in delayed or absent speech and weak muscle tone.

Last Saturday’s event was the fourth of its kind to be organised by Alison Turner of Highgate West Hill. Her nine-year-old son, Gibson, was diagnosed with the disorder in 2006.


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He is one of only 75 people in the UK to have Phelan-McDermid Syndrome and one of only seven in London.

Dr Katy Phelan, the geneticist who discovered the chromosome deletion, attended the family day and gave a talk to parents about current research being carried out.

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Gibson was diagnosed just before he turned two, having suffered from hydrocephalus, where fluid accumulates on the brain.

He had surgery at Great Ormond Street Hospital but two months later Ms Turner said her son was still not developing the way he should have been.

She said: “They carried out more tests and found he had a rare chromosome deletion.

“It took me about 18 months to come to terms with the fact that Gibson wouldn’t lead the life I thought he would.

“There were a lot of medical issues in his early years – we were in hospital once a week, so that was our lives.”

Thriving

Ms Turner, who has two other sons, aged three and 11, said Gibson attends a special needs school in Westminster where there are two other pupils with the syndrome.

“My husband and I thought it was very important to us that he went to a normal nursery school when he was younger so he could cope in that environment.

“Now he’s thriving. He does dance classes and loves music and swimming.

“Because he can’t express himself, it’s really easy for him to become isolated. He can’t engage with toys but he always remembers a face and he has such a happy disposition.”

Saturday’s event was the second largest gathering of people with the genetic disorder in the world.

During the day, volunteers ran communication and physical activity sessions with the children, while their siblings were able to take part in football and basketball.

Sue Lomas, president of the Phelan-McDermid Syndrome Foundation, spoke to parents.

Ms Turner said: “The event allowed parents who have a child with the condition to come together, share their experiences and offer support.

“It’s such a rare condition, so it’s comforting to know there are others out there going through the same experiences.

“A number of the kids will have just been diagnosed so it’s really great for them to see other children of different ages with the condition.”

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