Here is an introduction to many of the people who volunteer to help the AGSD-UK to meet its objective of supporting all affected by glycogen storage disease. They are listed in alphabetical order.
GSD6 (Hers disease) coordinator
Caroline was diagnosed with GSD6 as an infant. Her parents looked to AGSD-UK for information, advice and re-assurance. Caroline got back in touch as an adult and volunteered as GSD6 coordinator to help other parents and children.
Caroline has found that GSD6 has had minimal impact on her ability to live a full and healthy life. She graduated from Birmingham University and joined GlaxoSmithKline. The pharmaceutical link was not driven from the medical condition, but working on rare disease medicines has been made more fulfilling.
She lives in London with her husband, Ian, and two children. Caroline was concerned about the impact of GSD6 on pregnancy and children. Her local hospital and specialists at UCLH monitored her GSD6 in pregnancy and labour, it had no impact on either child’s development or birth.
Caroline welcomes all contact and questions regarding GSD6.
Dan has a busy enjoyable job working with students with profound and multiple learning difficulties. Other families can contact him for support. He doesn’t have all the answers, but does understand the challenges. He also attends the coordinators meetings once or twice per year and goes to the conference where he helps to present the speakers.
Dan and his wife have a son with GSD9a who was diagnosed when he was two years old. They have learned how to manage his complex condition through medication and careful diet control. They also have a younger son who is all clear and a daughter who could be a carrier. The children are especially helpful and caring, they appreciate how GSD can affect the family’s life.
Dan says his most important piece of advice is to learn as much as you can about your child’s condition. You will speak to many general practitioners and other medical staff who will not have experienced the complexities of GSD before: “knowledge is power”!
From a very young age, Abbie would collapse with severe hypoglycaemic and ketoacidosis episodes and seizures. She was routinely asked “Is it diabetes?”, but never tested positive. After years of suffering it was recognised that it was another blood sugar issue, and she was finally diagnosed in 2001, at age 16 after 10 years of investigations.
As she grew older, her disease became harder to manage, so she reached out to other people with GSD and met some incredibly inspiring people.
GSD0 (Glycogen Synthase Deficiency) is different to the other GSDs in not making glycogen, as opposed to not being able to process it. There are liver and muscle forms and Abbie has the liver form.
Abbie joined AGSD-UK to help people when they ask “What is wrong with me?” She feels it is an honour to be involved in such a fantastic support network, full of very brave individuals and that we can all beat this disease in our own way.
Abbie became the GSD0 coordinator in 2015. She is studying for a PhD in neuroscience
GSD1 (Von Gierke disease) coordinator
Jason’s professional background is in internet technologies and investment banking. He became GSD1 coordinator as his daughter is diagnosed with GSD1b. Since her diagnosis the family has travelled extensively to find the experts and others with GSD to help them understand the best care plan for their daughter.
Medicine has always been an interest of Jason’s, and now out of necessity he has gained as much knowledge and understanding as possible to be better able to support his daughter and others.
He feels that having a child with a rare disease has given him a more real, more rich perspective on life that has helped make him a better person.
Jason would welcome people to contact him if they feel there is anything he can do to help.
GSD2 (Pompe disease) coordinator
An aerospace engineering consultant by profession Allan became involved in the AGSD-UK after his son Jamie was diagnosed with Pompe disease (GSD2) at the age of two. Since attending their first AGSD-UK meeting, Allan and his wife Barbara benefitted from the extensive networking with other families and medical professionals.
Allan was appointed as GSD2 coodinator in 2011 and shortly afterwards was elected onto the board of the International Pompe Association (IPA), a federation of around 50 national patient support groups. Allan recognises the need for small charities to network widely and so maintains close connections with other neuromuscular and metabolic disease groups, particularly the UK Lysosomal Storage Disease (LSD) groups.
The approval of Myozyme for Pompe disease has brought with it a much greater awareness of the condition. Consequently, as the number of diagnoses increases and as the surviving Pompe infants develop and meet previously unattainable milestones, the demands on the charity are greater than ever.
Allan took part in the Vietnam Bike Ride in 2003 and then organised the Costa Rica Bike Challenge in 2006. Both were ground breaking for the charity and raised substantial funds. Although volunteering as GSD2 coordinator, Allan is also employed four days per week as AGSD-UK’s Charity Director, with a remit across all GSDs.
GSD5 (McArdle disease) coordinator
Andrew had symptoms from age 4 but he was 30 before a lucky break led to a diagnosis. There was no help for another 20 years until he found AGSD-UK in 1999. Andrew supported the development of the UK McArdle Clinic and was appointed GSD5 coordinator in 2004. He tries to help other people with McArdle’s improve their life experience of the disease.
He was for 30 years managing director of his own design company. Then for 10 years led a software developer for design, advertising and publishing. Well past retirement he still works full time to support McArdle people around the world. He is on the boards of Euromac and IamGSD. His “101 Tips” book is produced in 8 languages.
An ex-paraglider pilot and world record holder, Andrew was for years on the UK governing body for paragliding. He brings to AGSD-UK his experience in the development of small businesses and charities. Andrew served as Chairman of AGSD-UK from 2009 to 2014.
Andrew lives in mid Wales. Using techniques he has developed he has climbed all 188 of the Welsh mountains over 2,000 feet, plus mountains around the world. Andrew organised the “Walk over Wales” awareness-raising event in 2010 and has subsequently led annual walking courses for McArdle people from 16 countries.
GSD3 (Cori disease) coordinator
Sylvia became involved with AGSD-UK following the diagnosis of her granddaughter with GSD3. She says that she found the association to be a huge source of information and support.
Now as GSD3 coordinator Sylvia is very pleased to be a small part of what she says is such a wonderful team. She would love to hear from anyone with GSD3, especially those newly diagnosed.