A Paisley family has shared its experience of living with a rare genetic condition at a national event for people affected by glycogen storage disease (GSD) and their families.
AGSD-UK held its annual Main Event in Loughborough on 4th and 5th July. The charity supports people living with glycogen storage disease, a group of rare inherited conditions that affect the body’s ability to break down stored sugar for energy.
The event gave families the chance to share experiences, hear about the latest developments and take part in activities.
Journalist Amanda Crawford took part in a question and answer session after a screening of her documentary, Living with Glycogen Storage Disease: A Lifetime Without Sugar.
The short documentary tells the story of Amanda’s family after her son, Chance, was diagnosed with Glycogen Storage Disease Type 9a. It explains the day-to-day challenges of living with a rare condition that prevents the body from storing and releasing sugar properly. The film follows the family’s search for a diagnosis, Chance’s treatment, and the impact the condition has had on family life.
Amanda said: “I am proud that I have been able to show my short film and discuss my family’s experiences with the GSD community.
“In Scotland there are around twenty known cases and of those Chance is the only person who has type 9a. This causes chronic hypoglycaemia and enlarged liver and chronic ketosis. For Chance this has meant a lifetime of hospitalisation, investigative and lifesaving procedures as well as never-ending finger pricks to check his sugar and keto levels.
“Chance’s route to final diagnosis was quicker than most due to sheer determination from me and a few strokes of luck, however the journey to treatment was longer and extremely frightening. You feel like you are begging and pleading for help and support, all the while he was wasting away in front of our eyes.
“Thankfully after a long and arduous journey we were able to obtain a treatment plan at Evelina Children’s Hospital in London, one of the specialist centres in the UK.
“My son’s disease is an ever-evolving situation which can change from day to day, week to week and year to year. So, what’s right for him today may not be tomorrow. By sharing our experience at the Main Event, we hope to improve understanding, to hear from not only other families but specialists to see what’s out there and what’s going on and help those who are battling rare liver disease.”
Val Buxton, Chief Executive of AGSD-UK, said: “For people affected by glycogen storage disease, living with such a rare and little understood condition can be incredibly challenging. That’s why the efforts of community members like Amanda to raise awareness of GSD are so important.
“AGSD-UK’s Main Event is a valuable opportunity for those affected to come together with others who can relate to their experiences. Community members have described the connections they’ve made, and insights gained at these events as life changing. We’re so grateful to everyone who supports AGSD-UK’s vital work on their behalf.”
Headline photo: Amanda Crawford with her son, Chance, who shared their family’s experience of living with glycogen storage disease at the AGSD-UK Main Event in Loughborough