Raising awareness for 1p36 deletion syndrome

In August 2024 we were given the news that changed our lives forever. We were told our daughter had a rare chromosome deletion named 1p36 deletion syndrome, this is where part of the genetic material in chromosome one has snapped off. The indicator for this diagnosis was extra fluid on kinsley’s brain and a hole in her heart.

We have no idea how kinsley will be until she gets older due to the lack of research on 1p36.

We were told at 24 weeks pregnant kinsley may never be able to walk, talk or do basic everyday things. Not to mention the other side effects of potential epilepsy, cardiomyopathy, eye sight and hearing loss just to name a few.

When kinsley was just over a week old, we were told she would need brain surgery that week to prevent extra fluid gathering and putting pressure on her brain. Luckily, this didn’t go ahead as the surgery was unnecessary at that time but there is an 80% chance in kinsley’s life time she will need this.

Kinsley’s diagnosis during pregnancy put an immense amount of stress, anxiety and upset on the whole family but now she’s here we are absolutely besotted with our little warrior and will do anything we can to get her to achieve everything we know she can!

On the 10th May 2025, myself and a couple of my work colleagues are climbing snowdon. They have been kind enough to want to raise money for the 1p36 family trust charity.

This charity helps raise awareness and do more research to prevent families diving into the unknown - something we definitely struggled with during the early stages of kinsley’s diagnosis.

Thank you for reading a brief summary of Kinsley’s story and thank you for any donations that are made to the 1p36 family trust charity #1p36deletionsyndrome