“I crossed the Pennines to study English and French at the University of Leeds and have made Yorkshire my home since then. I spent ten years working at Leeds Beckett University with roles including Student Administration Co-ordinator and Research Student Administrator.”
“My steepest learning curve arrived four years ago when I had my second child who, despite a ‘normal’ pregnancy and birth, was discovered at ten weeks old to have an early-onset epileptic encephalopathy. “
“Uncontrolled epilepsy, severe learning difficulties and cortical visual impairment are among her symptoms. When your child has such a devastating condition yet medical professionals are unable to tell you why, it can be very hard to understand.”
“My hope is that the 100,000 genomes project will be a huge step towards giving reasons to families like ours in the future. Knowing the genetic cause of a rare disease could help identify the best treatment options and would give parents a starting point in meeting other families in the same situation.”
“I’ve found great comfort from having social networks (both virtual and in the real world) where I can ask the questions that no one else would understand or share my fears and frustrations about my child’s future.”
“These groups include SWAN UK (Syndromes Without a Name) for undiagnosed children and a local support group in Leeds called Little Hiccups. I was proud to raise money for Little Hiccups as a hiccups conqueror doing a 5k mud run last year. I also volunteer at my eldest daughter’s school, fundraise for my ‘swan’s’ school and occasionally write a blog on the Firefly Garden website.”
Join our panel!
We are extremely keen to hear from as broad a section of the population we serve as possible. You can find out more about our panel, and how to join by visiting our page here or by contacting Debbie Beirne on firstname.lastname@example.org