Edith was born at term and it was only after 5 weeks that I was made aware that all wasn’t quite as it should be. I remember the appointment like it was yesterday. Being told your child may have a genetic condition that, in some cases, could considerably shorten their life is the words no parent wants to hear. I remember spending hours on the internet trying to match Edith’s clinical symptoms with a genetic condition; feeling desperate to read somewhere that Edith would be with us for years to come.

Eleven years down the line Edith has had countless genetic tests including being part of a nationwide study into her Genome. In October 2024 after looking at the genes of my beautiful girl since 2016, she finally has a diagnosis of TBCK Syndrome. As with all rare genetic syndromes, there are around 100 people in the WORLD diagnosed with this particular one. One of the comforts this diagnosis has brought to me is that Edith’s disability was not my fault. I carried her for 9 months and have questioned my part in her disability many times and now I know that Edith inherited copies of the affected gene from both me and her dad; something out of our control.

Edith fiercely defies any odds that have been given. She navigates each day to find ways to not let her disability hold her back. Whilst it’s not always been, and will not always be sunshine and flowers, Edith has only ever gone forward with her development. As her mum that’s all I have to go on as to how her life may look going forward and remain positive that Edith will continue as she has done for the last 11 years.

Being a carer is hard, but it’s also an incredible privilege. Parent carers don’t need sympathy or hugs (well, maybe sometimes!) We need the people we care for to be accommodated, recognised and heard so we can just enjoy time with them, instead of having to fight for the basics. We cannot navigate life the way others do and mostly that’s not because Edith is disabled, it’s because the world isn’t equipped for disabled people.

Some days I struggle with the unknown and other days I see it as a good thing; no two days with Edith are the same. I’m grateful for the support network we have to navigate the difficult times and having her as my inspiration to keep driving forward is something I will never take for granted.

Written July 2025