We are the Clatworthy family and we live in Hampshire in the UK. My wife Jess is a paediatric nurse and i work in communications. We are parents to three wonderful children - Daisy (7), Alfie (1) and Lola who is sadly no longer with us.
We decided to start this website because very little is known about the CRELD1 gene sequence change. If you Google 'CRELD1 and epilepsy', nothing comes up in the search, which means that any parents (like us) are completely lost when given this extremely rare diagnosis.
That has to change.
We have spent the past four years searching for guidance, answers and support to help us deal with this ever challenging condition and give our son Alfie the best possible chance at life.
We first heard about CRELD1 when our daughter Lola started having frequent seizures at just three months old. Lola had severe developmental delay, was struggling with feeding and mobility and often experienced upwards of 80-100 'twitches' and prolonged seizures every day. By pure chance, a mother in one of the epilepsy Facebook groups recognised Lola's seizures from those that her son was having. We quickly established many similarities in our children's symptoms and experiences.
A few weeks before Lola's third birthday, and just four days after her little brother Alfie was born, our worst nightmare became a reality when we tragically lost Lola, peacefully in her sleep. Her cause of death was put down to Sudden Unexpected Death in Epilepsy (SUDEP), a tragic outcome for many children diagnosed with severe epilepsy.
We quickly learnt that this wasn't the end of our nightmare, as her brother Alfie started having the same seizures at three months old and we soon had confirmation that Lola and Alfie were both diagnosed with the same CRELD1 gene sequence variation.
While this diagnosis has simply turned our lives upside down, we have found an incredible community of inspirational families from across the U.S., Canada and UK that are all caring for children with CRELD1. These families give us hope, ideas, love and support as we all fight this together.
Together, we are the CRELD1 Warriors.
Both Lola and Alfie are also part of a research study on CRELD1 being managed by Yale University and GeneDx.
Alfie has filled our lives with so much happiness and made us even more determined to understand this condition and fight to give him the best quality of life possible. We hope that this website will help us all find some answers, build a greater community of CRELD1 Warriors and ultimately help us to overcome the many challenges that this condition brings.
We also want to thank all our CRELD1 families for their incredible bravery in sharing their own stories with the world.
Adam, Jess, Daisy, Lola and Alfie x