Amelie Holl

Amelie Holl

DDD study - Amelie's story

Despite packing more hospital stays into her young years than most of us will do in a lifetime, 4-year-old Amelie Holl is helping NHS researchers find better treatments and care for future patients.

After a normal pregnancy, Amelie arrived 3 weeks early at the Norfolk and Norwich University Hospital to parents, Naomi and Marc Holl. Doctors realised she was unable to breathe properly and Amelie was diagnosed with a rare syndrome called Pierre Robin Sequence (PRS) – a condition where patients experience a number of growth defects around the face and neck, including cleft palate. She remained in hospital for the following few weeks so that doctors could help her through that crucial early period of growth.

She was then allowed to go home but Naomi and Marc soon noticed that Amelie was not developing normally. She seemed to have a significant physical ‘stiffness’ to her body particularly around her head, neck and leg joints. She was also unable to feed properly and was being violently sick each night.

The following months saw Amelie undergo a number of tests to find out why this might be happening but no answers could be found.

Then, in the summer of 2013, at the age of five months Amelie was taken to meet the consultant geneticist at Cambridge University Hospitals who identified that the problem was genetic. Following this discovery, the team suggested that Naomi, Marc and Amelie join the Deciphering Developmental Disorders (DDD) study – a ground breaking study on the NIHR’s Clinical Research Network Portfolio which aims to find the genetic causes of rare childhood conditions.

The consultant thoroughly explained what the study involved, answered any questions the parents had and gave them information leaflets to take away. After reading the information, the family decided to learn more about the study and spoke with the local research genetic counsellor who explained things in more detail. When Amelie’s family gave their consent to join the DDD study, they were sent a study pack. All Mum, Dad and Amelie had to do was give saliva samples in an easy to use kit and send them off to the study team at The Wellcome Trust Sanger Institute.

Dr Helen Firth, Chief Investigator and Consultant Clinical Geneticist at Cambridge University Hospitals said;

“Thanks to patients such as Amelie, and their families, the ‘Deciphering Developmental Disorders’ 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.”

Although the family’s results to date are inconclusive, they are really pleased to have had the opportunity to take part. The DDD study is finding diagnoses for one in three children recruited to the study. The study will continue to analyse Amelie’s data for another five years searching for a genetic diagnosis to explain her disorder. To date, the DDD study has identified 30 new genes causing developmental disorders and found diagnoses for several thousand families.

Naomi 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 DDD and is on the database we can take some sense of joy knowing that babies born in the future with Amelie's syndrome will benefit. We could fill the gap for someone else!”

Amelie is a true NHS research trailblazer!