A new UK charity launches to support those impacted by Glut1DS
Introducing Glut1 Deficiency UK
A new charity called Glut1 Deficiency UK launched this year to support carers and patients impacted by Glut1DS in UK and Ireland and was the culmination of 3 years hard work by a small dedicated group of parents in England, Scotland, Wales and Ireland. The charity is a non-profit family led organisation dedicated to improving the lives of those in the Glut1DS community through its mission of:
· Increasing awareness of Glut1DS
· Improved education of families and health professional in relation to Glut1DS
· Advocacy for families and patients impacted by Glut1DS
· Support and funding for Glut1 Deficiency research
The team behind it.
The trustees, are all Mum’s with a child or young adult with a Glut1 Deficiency Syndrome diagnosis. They are also supported by a team of eminent medical experts. These medical professionals have experience treating patients with Glut1DS and have kindly volunteered to form the Medical Advisory Board ensuring that all information provided by the charity is medically sound.
What is Glut1 Deficiency?
Glut1 Deficiency (Glut1DS) is a rare genetic condition that affects brain metabolism. Glucose isn’t properly transported into the brain, leaving it starving for the metabolic fuel it needs to grow, develop, and function normally. This causes a wide range of neurological symptoms including epilepsy, movement disorders and cognitive impairment.
There is currently no cure for Glut1DS – the recommended treatment is a medically supervised Ketogenic Diet, a high fat, low carbohydrate diet, which can improve most symptoms for most patients. The number of people diagnosed with Glut1DS worldwide is currently thought to number in the hundreds, with just less than a hundred diagnosed in the UK and Ireland. According to the recent International Consensus Paper on Glut1 Deficiency Syndrome, recent studies estimate true prevalence to be at least 1:24,000, so the vast majority remain undiagnosed
“We hope that Glut1 Deficiency UK will provide an inclusive space for our Glut1DS community, providing connection and support to the wide spectrum of those with Glut1DS and their families, with compassion and empathy. With increased awareness and funding for much needed research, we hope for better treatments to improve the lives of all those living with Glut1DS.” Trudi Morgan. Chair of trustees
2021 is the 30th anniversary of the first paper published about Glut1 Deficiency and the team at Glut1 Deficiency UK are proud to stand alongside patient advocacy organisations across the globe for International Glut1 Awareness Day on July 10th
“Since 1991, amazing progress has been made in the diagnosis and understanding of Glut1 DS but there is still much to do to raise awareness among medical professionals ensuring patients yet to be found can get their diagnosis quickly. We need research for better understanding, better treatments, and a better quality of life for our patients and families. This is our aim” Trudi Morgan. Chair of trustees
Professor Sameer Zuberi
Consultant Paediatric Neurologist at the Royal Hospital for Children, Glasgow, UK
Professor Helen Cross
Professor of Neurology Great Ormond Street Hospital for Children London, UK
Professor Dr. Jörg Klepper
Aschaffenburg Children’s Hospital in Aschaffenburg, Germany
Dr Andreas Brunklaus
Consultant Paediatric Neurologist, Royal Hospital for Children, Glasgow, UK
Dr Kathleen Gorman
Paediatric Neurologist Temple Street Children’s University Hospital, Dublin Ireland
Advanced Clinical Practitioner, Royal Manchester Childrens Hospital, UK
Lead Dietician Royal Hospital for Children, Glasgow, UK