Our family is made up of me Rachael, Dave, Edith 10, Violet nine, Alba six and Nell six.
Our nine-year-old Violet is undiagnosed as well as one of our twins, Nell.
Violet and Nell were diagnosed through the 100,000 Genomes Project in September 2020. They have a rare genetic condition caused by changes to both copies of the KPTN gene.
I have been a SWAN UK member for five or six years now. I have been thinking a lot lately about my favourite SWAN UK memories and it is really hard to narrow it down to one as there have been so many! Up there are the inflatable 5km that lots of the North East Members did together dressed as lions for Undiagnosed Children’s Day 2019 – what a laugh we had!
The North East local network summer picnics and Christmas parties all blend together to form a wonderful collection of memories with fantastic friends and the Parent Rep conferences in Birmingham are amazing!
Through SWAN UK me and my whole family have made some wonderful friends who understand the unique challenges of raising a child with an undiagnosed genetic condition. We found a fantastic support network on our journey to diagnosis.
As this year is a big birthday for SWAN UK I am getting all nostalgic. I am looking back at the journey my girls have been on and celebrating how much they have achieved and how much fun we have had since first becoming members of SWAN UK.
Would you like to share your story and help raise awareness of undiagnosed genetic conditions?