Norwich girl, four, with a rare condition becomes the face of national research campaign

Amelie Holl, 4, who has a rare condition. Picture submitted by National Institute for Health Researc

Amelie Holl, 4, who has a rare condition. Picture submitted by National Institute for Health Research. - Credit: Archant

When little Amelie Holl was born three weeks early on New Year's Day 2013, her parents Naomi and Marc could not have expected the difficulties their family would have to battle through.

Amelie Holl, 4, who has a rare genetic condition, with her mother Naomi Holl. Picture submitted by N

Amelie Holl, 4, who has a rare genetic condition, with her mother Naomi Holl. Picture submitted by National Institute for Health Research. - Credit: Archant

Amelie, now four and from Costessey, has a rare condition which has baffled doctors from day one, when it was discovered she could not breath whilst on her back.

She was subsequently diagnosed with a rare syndrome called Pierre Robin sequence - a condition where patients experience a number of growth defects around their face and neck, including cleft palate.

But Mr and Mrs Holl hoped her issues would be solved after an operation.

'But by the time she was a year and a half, she had missed all the milestones which would be expected,' said Mrs Holl, who works in finance at the Norfolk and Norwich University Hospital. 'She could not crawl, she could not sit up, and the medics started to notice she was very stiff.'

Amelie Holl, four, from Costessey, Norwich, has become the face of a national research campaign. Pho

Amelie Holl, four, from Costessey, Norwich, has become the face of a national research campaign. Photo: National Institute for Health Research - Credit: National Institute for Health Research


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She was also unable to feed properly and was violently sick each night. She was also unable to feed properly and was violently sick each night.

Today - as NHS research around the country is celebrated as part of International Clinical Trials Day - the family are still looking for answers over their precious daughter's extremely rare condition.

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And have themselves taken part in a whole host of research not only to try and solve the mystery of Amelie's condition, but help others in the future.

Amelie has also now been chosen of one of the faces of I Am Research, a National Institute for Health Research campaign to help raise awareness.

'For us obviously the primary goal is to get a diagnosis for Amelie and be able to understand what's going on,' Mrs Holl, 35, said. 'But the other side of it is she is in the system and her DNA is stored so she is then there some someone else who may come along with the same thing.'

Mr and Mrs Holl had provided samples of their DNA for some of the trails too, and Mrs Holl added: 'Some of it really is quite ground-breaking and it's important to be part of it.'

And thanks to a recent study, Amelie was found to have two defective genes, so Mrs Holl hopes they are on the right track.

• To find out more about I Am Research visit www.iamresearch.co.uk

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