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Boy fights rare head disorder

Kelly Outlaw with brave son four year Archie coping with a rare genetic condition - ANL-140520-100141009

Kelly Outlaw with brave son four year Archie coping with a rare genetic condition - ANL-140520-100141009

A Haverhill mum is raising awareness about a skull disorder affecting her four-year-old son Archie who also suffers with a rare genetic syndrome.

Kelly Outlaw she says the condition, often dismissed as “flat head”, common in babies, can easily get dismissed by health workers because they don’t know enough about it.

Archie has an extremely rare syndrome called frontometaphyseal dysplasia. He is one of only 35 people in the world with the condition.

But Kelly says that one part of his rare syndrome, called craniosynostosis, can happen to any child and she wants to make more people aware.

Kelly, 32, from The Keep said: “Archie he has had a very tough four years with lots of minor operations, from cameras down his airway to a feeding tube in his tummy, to three major operations including having his skull removed and rebuilt.

“He had his airway reconstructed twice. The first time after the operation his windpipe collapsed, and he needed to have a tracheostomy put in to save his life,” she said.

Archie’s craniosynostosis was not picked up until he was seven months old, and Kelly and her husband Stephen, a carpenter, got an official diagnosis of sagittal and metopic craniosynostosis from Great Ormond Street children’s hospital when Archie was a year old.

“I am trying so hard to raise awareness of this condition as it is often dismissed as flat head common in babies. The reason it is dismissed is because GPs, health visitors and even midwifes don’t know enough about it.

“It is not always normal to have an abnormal skull. From five months old, I kept mentioning my son’s head shape just to be told ‘it’s normal’.

“If this condition is left, the child could suffer a number of problems from learning, development and speech problems, to deafness and eye sight loss. The only thing that corrects this condition is surgery, and the earlier it is picked up the better,“ she added.

Kelly, who works part-time in Tesco in Haverhill, said despite Archie’s health problems the family don’t get stressed and Archie will start school at Burton End Primary School in September. “I am very laid back and am not the sort to stress and panic. We take each day at it comes,” she said.

The couple are embarking on fertility treatment involving genetic screening. She said this will be the first time the procedure will be undertaken in the UK because frontometaphyseal dysplasia is so rare.

 

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