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How we did
Have you read the latest news?
Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With GSD Type 3.
Avalglucosidase-alfa was awarded EAMS (Early Access to Medicines Status) in February 2021.
RCPCH &Us have a survey for children & young people aged 13-25, who have a rare disease & live in the UK.
We are sad to report that AGSD-UK member Aldwyn Cooper has passed away.
The John Walton Muscular Dystrophy Research Centre in Newcastle is running a new study in Pompe disease.
2 days to go until Rare Disease Day 2021.
Eurordis key findings from a survey on patients’ and carers’
experience of medical care for their rare diseases.
The Pompe Support Team wanted to create a fun opportunity for children, as a show of support during lockdown.
What do you need from AGSD-UK?
For personal stories on an individual GSD, visit the page for that GSD.
What and who we are
- National support group for those affected by Glycogen Storage Disease (GSD) and their families.
- Membership based with an elected board of trustees.
- A company limited by guarantee and a registered charity.
- Collaborators with UK rare disease and international GSD groups.
You tell us how we did…
It is really valuable for staff, volunteers and members to hear feedback on our efforts. Please use the “Message us” form.
Thank you Jane for your time and your good adviceThank you so very much. I can't tell you what it means to me for the advice you have provided. I am a great believer that once you know the name of an ailment, you can look to see how to deal with it and quite often feel relieved with optimism as to the future living with any condition.MG, UK
Mindful DecisionsAs a relative novice in this area I can’t speak highly enough about the course! The pace of the lessons and the way in which the modules are structured really help one to progress, allowing you to see how your understanding is growing with every week. I particularly liked the concept of “mindful decisions”, something which I hope to bring into both work and home life moving forwardJohn Lee Taggart, Niemann-Pick UK
Thank you JaneI've no idea how to properly thank you Jane, for all you've done for my mother. If there is anything I can do for you and the AGSD please let me know!Jon W-I
Invaluable helpI very much appreciate your support during this challenging time. Thank you so much for being there for me. It means more than I can say, your help has been invaluable; I don't know how I would have managed without your help and support. I sincerely appreciate your generosity.Maryam Ahmed, UK
Help with benefit formsJulie Jackson has been great, really helped me with the benefit forms, a lovely lady.Thank you for your help too.Wendy Barker, UK
Professional support and guidance
I am very grateful to both of you for your excellent professional support and guidance with filling in forms and writing supporting letters.
The work you do and the support you give makes such a difference to people lives. I appreciate the time and effort you have given to help me.
Eileen Rice, UK
Correct diagnosis after 29 years
Big thanks to Andrew for pointing me in the right direction to figure out why I was so different to other McArdle people. I felt a huge relief when I got my correct diagnosis of GSD6, Hers disease, after 29 years. I am now better equipped to manage my condition.
Steve Wills, USA
Well done for latest Glisten
A big thank you to everyone involved in the latest edition of Glisten. Quite a big issue this time, full of interesting stories and it looks great. It’s really moved forward, looks professional and inviting to read - a big well done to everyone!
Amanda Porter, UK
Jane and Julie PIP help thanks
DWP wrote about my PIP tribunal. They’d looked at the decision again and increased my points for the daily living component. I have been awarded that component and mobility at enhanced rate. I couldn’t have done it without help from Jane and Julie. I am very grateful.
Ben Tomsett, UK
GSD Family Day thanks
Thank you to Jane for all your hard work organising the GSD Family Day at the Royal Victoria Infirmary Newcastle. It was a really good opportunity for all the families. See you again next year.
Alice and Sandra, Paediatric Metabolic Dietitians UK
Chance to give feedback
Thanks for enabling us to participate in the useful parent consultation meeting about trial design and giving us a chance to give some feedback, which wasn't done before. It also gives some confidence to us parents as our points of view are taken into account.
Just to let you know we have banked the money raised through the grant applications that you made for us. We are very thankful for this money, it takes the pressure of us a little during our frequent hospital trips with our little girl.
Answers to unusual issues
Thank you so much for your response. I have passed on the information. I am very grateful to have someone like you to ask when these sorts of issues arise, and I thank you most sincerely. I hope we can meet sometime.
Supported and not feeling alone
It means a lot to me to know that I have support from you, the AGSD-UK website and the McArdle clinic. It is good to know there are other people who understand our condition without us having to explain, and it’s nice to feel I am not on my own.
Help with diagnosis
Regarding my search for a diagnosis, hopefully things are moving forward. I had to get my medical records and go through them to ensure I was being tested correctly. You were the catalyst, so thank you for all your help and I’ll be in touch.
Keeping nearly pain free
Just writing to say hello. Still no formal diagnosis, but we are tackling it bit by bit and, meanwhile, the second-wind training keeps me nearly pain-free and functional. Very grateful for all of your help over the years.
Thank you to Pompe friends
Thank you to my Pompe friends, Julie Garfield is a real treasure who inspires me to try even harder; the AGSD-UK Specialist Care Adviser, Jane Lewthwaite, who never fails to be there when I need her; and the PST for working to make lives better.
John Foxwell, UK
Always there for me
Very caring, patient, informative, supportive and knowledgeable about McArdle’s. Always good about answering questions anyone has about GSD5 and related health concerns. Been there for me whenever I’ve needed.
Marie Buck, USA
Understanding, supportive and informative
AGSD-UK were a lifeline when I was first diagnosed with Pompe. Understanding, supportive and informative.
Jane Randall, UK
Huge thanks for PIP help
Huge thanks to Jane Lewthwaite for all her help and support with my PIP application. Very much appreciated.
Keep in touch
Register FREE with AGSD-UK to keep in touch with the latest developments and future conferences, workshops, courses and fundraising events. It helps you keep in touch with other patients and families. You will receive our magazine, Glisten, by email.