My name is Jess. I worked as a paediatric nurse for 20 years and I’m a mummy to three wonderful children: Daisy, Lola and Alfie. Sadly, both Lola and Alfie were born with the same ultra rare genetic condition called CRELD1. Lola, my second daughter, started having seizures at three months old. As a paediatric nurse I knew seizures starting so young was a very worrying sign, and had the terrifying experience of the transition from nurse to parent of a very sick child. Lola’s seizures got progressively worse, causing detrimental effects to her development. Despite trying many different treatment options, and having numerous investigations, we never got control of her seizures or found a diagnosis for her condition, and she passed away just before she turned three. Alfie was just five days old at the time. It was a devastating time for our family, but having a new baby kept us all going.

However, the tragedy continued when at three months old Alfie also began having seizures. By doing our own research on Facebook epilepsy groups, my husband Adam eventually found a gene mutation called CRELD1 which fitted with all their symptoms. Genetic testing revealed that both Lola and Alfie were carriers of this gene mutation. Unfortunately the diagnosis hasn’t provided us with all the answers we were hoping for, but it has blessed us with a very small but extremely supportive community who live daily with this condition. Having the support from other families who understand our struggles has made this journey far easier to navigate the second time round. Alfie is a joyful little soul, he lives for cuddles and we feel truly blessed to have him. We are now armed with more information to manage his condition and give him the best life we can. We have been lucky to be supported by a local charity through our grief, and have been provided with lovely family experiences with other families who are in similar situations to us.

I came across Sandcastle Trust through another family and saw they were looking for trustees. I felt like it was a great opportunity to give back for all the support we have received ourselves. We know all too well how important it is to make special memories with your loved ones, and I am grateful that I can be part of a team who help create wonderful experiences for families who care for a loved one with a genetic condition.