EC Microbiology

As paediatric nurse and communications professional, we felt prepared for parenthood, but our daughter Lola's journey with CRELD1, a rare genetic condition, proved otherwise. It began with seizures at three months, developmental delays, and daily myoclonic twitches. Genetic testing yielded no answers, leaving us desperate. A Facebook epilepsy group connected us with a family whose children had CRELD1, prompting us to question geneticists' skepticism. Tragically, Lola passed away from SUDEP shortly after her brother Alfie's birth. When Alfie developed the same seizures, we pursued a CRELD1 diagnosis, which was ultimately confirmed. This connected us with the CRELD1 Warriors, a global community offering support and shared experiences.

Frustrated by the lack of information, we spearheaded efforts to increase CRELD1 awareness. Lola and Alfie were included in a Yale School of Medicine study, leading to the first CRELD1 medical literature. We advocated for CRELD1's inclusion in genomic testing panels and secured pre-natal testing. Our work ensures future families won't face the same isolating search for answers.

The CRELD1 Warriors website, now a top Google search result, has become a vital resource. With fewer than 35 diagnosed cases worldwide, our community provides a lifeline, sharing knowledge about symptoms, treatments, and research. We bridge the gap between medical professionals and parents, becoming experts through lived experience. Our mission is to raise awareness, support research, and provide a supportive community.

Children with CRELD1 face intractable seizures and developmental delays, requiring collaborative efforts between scientific and parent communities. We've established a Scientific Advisory Board and partnered with UKRET to amplify our voice. We are collecting skin biopsies to build a cell model for research, aiming for better treatments and quality of life. CRELD1 Warriors is now a UK charity, enabling us to fund research and support families. Our personal journey fuels our commitment to empower others, ensuring no one faces CRELD1 alone. As Participant Panel Vice Chair for Rare Conditions at Genomics England, I champion patient voices, bridging research breakthroughs with real-world benefits.

 Keywords: CRELD1; JELANS; Rare Genetic Disorder; Rare Disease; Epilepsy; Intractable Seizures; Myoclonic Seizures; Developmental Delay; SUDEP (Sudden Unexpected Death in Epilepsy); Genetic Testing;

Genomics