The story of Emma
Hi, I’m Emma. I am a mum of five. William is fifteen, Alfie is twelve, George is six, Arthur is three, and my SWAN Nellie is nine.
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 nine-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 Five 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.
We have been members of SWAN UK for over seven years and I couldn’t imagine not having them in our lives. We look forward to taking part in SWAN UK events.
I have also through SWAN UK visited Parliament as a guest of our MP to hear about the work of the APPG on Rare, Genetic and Undiagnosed Conditions, in 2019.
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.