Each year, some 6,000 children are born in the UK with a genetic condition likely to remain undiagnosed.

These nameless syndromes are sometimes never identified, while others are made to wait until well into their adult years to find out what condition afflicts them.

Nellie is eight years old and remains in the dark as to why she suffers stomach and bowel issues, sleeping problems, and has autism.

Here, mum Emma Mangan tells Sky News about what it is like to have a child whose symptoms may forever remain unexplained.

Having a child who is undiagnosed is a lonely situation to be in – in Nellie’s first few years, we felt isolated and cut off from “normal” everyday life.

Nellie was born five weeks early but showed no signs anything was wrong until she reached sixteen weeks old.

Nellie spent most of her first two years in Alder Hey with severe failure to thrive, at one point needing to be fed intravenously – bypassing the usual process of eating.

At some point during a hospital stay, a genetics opinion was suggested and our undiagnosed journey began.

Being undiagnosed affects everything – it limits your access to services because you don’t tick any box, there’s nothing to write down on forms where it says “diagnosis”.

Holiday insurance is a minefield, and Nellie requires extra support and care on a daily basis, in the form of medication and jejunostomy tube feeds.

Nellie is now a happy thriving eight-year-old – she has a list of problems including stomach and bowel issues, sleep issues, autism, but she loves life and regardless of what life throws at her she smiles.

She is in Year Three at St Cecilia’s Catholic Junior School – she loves school, is involved in all aspects of school life and is friends with everyone, they are very accepting of her and her issues.

We as a family have accepted our undiagnosed journey may never end, Nellie may never receive a diagnosis.

Through the support of SWAN UK we now “belong” – they have been a lifeline to our family – involving Nellie’s four brothers in activities and social events showing them they are important too.

Practically, they have helped us with information and support, and personally I have found being involved with organising information stands and parent meet-ups has given me a purpose and an opportunity to give something back to a network which has given me so much.

Through SWAN UK giving us a voice, we were lucky enough go to parliament and meet our MP Stephen Twigg, who on our request joined the all-party parliamentary group (APPG) on rare, genetic and undiagnosed conditions.

Our hope will always be that Nellie will receive a diagnosis, to empower us to give Nellie the best possible care but that diagnosis wouldn’t change anything.

Nellie would still be Nellie.

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