Around 6,000 babies born in the UK with a genetic condition are likely to remain undiagnosed – these are scary numbers.
Nellie Mangan, now aged 13, from Tuebrook, was one of those babies. She was a very unsettled baby, says her mum, she didn’t grow, didn’t meet her milestones, was a very sick baby, and wasn’t feeding. Having two older brothers, Nellie’s parents knew something wasn’t right.
The 13-year-old was born with stomach and bowel issues. Despite still being able to eat and drink orally, she is fed for six hours every day through a feeding tube into her bowel – to maintain a healthy weight, to thrive and grow as a teenager should.
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Nellie’s mum, Emma Mangan, 42, told the ECHO: “Nellie was a very unsettled baby. I know no two children are the same but we had already had two [children] so we knew something wasn’t right, it just didn’t feel right.
“We knew quite quickly something wasn’t quite right with her. The doctors went down the reflux route, which is what she was treated for at first but it didn’t improve things. At six-months-old Nellie was admitted to hospital for around six months and went through various tests and procedures without getting any kind of answer.”
For nearly two years Nellie, who lives at home in Liverpool with her mum, dad, Peter, and four brothers, was practically living at Alder Hey Children’s Hospital, which her mum says was a “very difficult time, without ever really getting an answer.” Kallie and her family still don’t know what she suffers from.
For many families across the UK this is the case. In fact, 6,000 children born every year in the UK with a genetic condition are likely to remain undiagnosed. For them and their families, the future is unknown.
The doctors spoke to Nellie’s family about testing her genetics in the hope of finding a diagnosis. Following lots more tests it was soon clear that Nellie may never be diagnosed.
Emma said: “At the time you don’t think that you won’t find out what’s wrong with your child. With Alder Hey Hospital being so amazing you think you will find out what is wrong and they will treat it, it was very frustrating.”
She added: “We found out that getting a diagnosis might not even happen. At this time we were introduced to SWANUK, who told us that around 6,000 children born each year have undiagnosed conditions.”
SWANUK is a charity run by the charity Genetic Alliance UK, and is the only dedicated support community for families affected by an undiagnosed genetic condition in the UK.
She added: “We are now 13 years into Nellie’s journey and she hasn’t got a diagnosis. We hope with technology more things are going to be diagnosed but it could mean she hasn’t been diagnosed because it’s a condition that’s not been discovered yet.
“Without having a diagnosis it’s hard to access support because you don’t fit into a box on a sheet, you don’t fit in, and that’s why we found SWANUK – to have some support. SWANUK have been a lifeline for us. We felt included and they have given us so much information and support through Nellie’s journey.”
Emma described how hard Nellie’s journey has been, not knowing what is wrong with her little girl was “frustrating” at times she said. “It is a lonely situation because you just don’t know, you don’t know if things might get better or worse, it took a long time for us to come to terms with it. We just wanted a diagnosis and now we have accepted we won’t get one,” she says.
The mum-of-four added: “If she had a diagnosis it wouldn’t change how she is cared for or how she lives. Nellie knows no different so this is normal life for her and it doesn’t stop her from doing anything. She is fully involved with everything all her peers are involved in.”
With Nellie’s feeding tube and medication, it means she can be a happy and healthy 13-year-old and join in with all the activities at school alongside her friends. Her mum said: “She attends St Edward’s College and she is a full member of the school. She receives some support because she is tube fed in school but joins in with everything.”
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Sarah Carter is a health and wellness expert residing in the UK. With a background in healthcare, she offers evidence-based advice on fitness, nutrition, and mental well-being, promoting healthier living for readers.
