Four year-old battling rare genetic condition helps pioneering research trial

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

She is only four years old but Amelie Holl has spent more time in hospitals than most of us will ever do in a lifetime.

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

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

The youngster, from Costessey, Norwich, suffers from a rare condition and continues to baffle doctors with another genetic problem.

But brave Amelie is battling through her difficulties and has now contributed to vital research that will help the treatment of other children born with her illness.

After a normal pregnancy, Amelie arrived three weeks early at the Norfolk and Norwich University Hospital.

Doctors quickly realised she wasn't breathing properly and 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.

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

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


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She was discharged, but her parents Naomi and Marc soon noticed that Amelie was not developing normally - with an apparent stiffness to her body (particularly around her head, neck, and leg joints). She was also unable to feed properly and was violently sick each night.

Finally, when Amelie was five months old, a consultant geneticist at Addenbrooke's Hospital, Cambridge, identified that her problem was genetic, and suggested she join a study run by the National Institute for Health Research.

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The trial, called Deciphering Developmental Disorders, has so far found 30 new genes that cause developmental disorders, and diagnoses for thousands of families.

After accepting the offer - Amelie and her parents all gave saliva samples to the trial.

Amelie's genetic problem was discovered by a consultant at Addenbrooke's Hospital in Cambridge. Phot

Amelie's genetic problem was discovered by a consultant at Addenbrooke's Hospital in Cambridge. Photo credit: Chris Radburn/PA Wire - Credit: PA

Although the family's results so far are inconclusive, they are really pleased to have taken part, Mrs Holl said.

'Mainly we wanted to get involved because we wanted to find a diagnosis for Amelie, but we now know that whatever she has is extremely rare.

'Despite this, as she has taken part in the trial, we can take some sense of joy knowing that babies born in the future with Amelie's syndrome will benefit from us having taken part.'

The study will continue to analyse Amelie's data for another five years to search for a genetic diagnosis.

Dr Helen Firth, who is leading the study, said: 'Thanks to patients such as Amelie and their families the study offers a win-win to patients, clinicians, and scientists alike.

'It is significantly improving our ability to diagnose rare genetic conditions and is providing better understanding of the causes of these disorders.'

What is Pierre Robin sequence?

Pierre Robin sequence is a set of abnormalities affecting the head and face, according to the USA Library of Medicine.

More specifically it creates a small lower jaw, a tongue that is placed further back than normal, and blockage of the airways.

Most people with the condition are also born with an opening in the roof of the mouth (a cleft palate).

This condition is described as a 'sequence' because one of its features, under-development of the lower jaw, sets off a sequence of events before birth that cause the other signs and symptoms.

Specifically, having an abnormally small jaw affects placement of the tongue, and the abnormally positioned tongue can block the airways.

The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result some affected babies have an inability to grow and gain weight at the expected rate.

The research trial

The Deciphering Developmental Disorders (DDD) trial is run by a science team at the Wellcome Trust Sanger Institute.

Through the DDD trial - the team has completed 'exome sequencing' (sequencing all of the genes in the genome) of more than 10,000 children and their parents.

To date the study has identified 30 new genes for developmental disorders, including 14 new developmental disorders, which are caused by spontaneous new genetic mutations not found in the DNA of either parent.

The team has calculated that, on average, one in 300 children is born with a rare developmental disorder caused by a new mutation, which is equal to 2,000 children a year in the UK and 400,000 globally.

The study is co-funded by the National Institute for Health Research, the Health Innovation Challenge Fund (Wellcome Trust and Department of Health), and the Wellcome Trust Sanger Institute.

For more information about the National Institute for Health Research click here.

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