Become a member Home About us Vision and mission Our team Our mum's panel » Jobs Our corporate supporters GDUK network Genetic disorders database Grant programme Newsroom Fundraising Get involved Make a donation Become a member Contact us About genetic disorders For parents of affected children For affected adults For support groups & charities FREEPHONE 0800 987 8987 MEET OUR MUM'S PANEL The content on the GDUK website was the brainchild of our Mum's Panel, a group of women from all walks of life whose children happen to have genetic disorders. We eventually intend to establish a Dad's Panel too so contact us if you would like to become involved. Here are the Mums' stories: CAROLINE HARDING I am mum to three gorgeous children Columbus, Augusta and Solomon. Columbus and Solomon both have hypohidrotic ectodermal dysplasia, a genetic disorder which among other things means they cannot regulate their body heat or flush out respiratory infections. The last seven years have been a roller coaster of emotions. When your children have something rare, it can be difficult getting people to listen or accessing the right help. It has been the support of other mums in my situation that has made the difference and I hope that we can help everyone who finds themselves facing the challenges of a genetic disorder. PELIN AHMET It was nine years ago when my beautiful daughter Leyla became part of our family. She has a duplication of the chromosome 17p, which affects her physical growth and cognitive ability to learn typically. I am dedicated to the improvement of information and services for our children and families. It is important to help people navigate the complex systems and support available, providing the best possible care we can for our families throughout our journeys. I work for a local authority in the children with disabilities team and am involved with national projects, including the current Special Education Needs And Disability Green Paper. HELEN BEDFORD I am mum to three boys. I may be biased, but all three of them are amazing, talented, funny, bright and pretty wonderful little people. One of my non-identical twins has a presumed genetic disorder, congenital myasthenic syndrome, a rare disease where a fault in the structure of the neuromuscular junction affects the transmission of messages from brain to muscle causing variable fatigue and weakness. Charlie has complex physical needs but is well supported and thriving in mainstream school. Through meeting both parents of other myasthenic children and children with other disabilities it is apparent that we all face similar journeys. Individually this can be difficult, together we can share the map and support each other – which is why this website is such a valuable project. SAM CARLISLE My gorgeous daughter Elvi, 11, is one of only four children in the UK with the genetic disorder Rhizomelic Chondrodysplasia Punctata (RCDP). She has complex physical and mental needs but she amazes me every day. I joined the Mum’s Panel because I felt frustrated about fighting for things she is entitled to and wanted to boast about her amazing achievements. I also wanted to share the knowledge I’ve gained over 11 years with other parents. I’m a journalist on a national newspaper and also mum to Elvi’s five-year-old brother. FIONA COPELAND I am Mum to Euan aged 17 and Gregor aged 15 who both have a rare lung condition called Primary Ciliary Dyskinesia (PCD). People with PCD have faulty cilia hairs - hairs which line the bronchial tubes. Sufferers are very prone to chest infections which if left untreated cause permanent lung damage. My sons have to have twice daily physiotherapy and targeted antibiotics and lots of hospital stays. I joined the Mum’s Panel to share my personal experiences of bringing up children with a genetic condition – the good, the bad and the ugly. SARA JACKSON I am the mother of two lovely boys, the youngest of whom has the chromosomal disorders 18p- and 22q+. He is one of the only people on record globally with both conditions, so we are constantly adding information to our archive and pioneering as we go. Although we face a genetically complex big picture, thankfully day to day the challenges are moderate, leaving me time to keep working as an advocate for my family and others out there who face a similar jigsaw of facts and feelings. 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