AGSD-UK

As part of our commitment to support those living with #RareDiseases and #PompeDisease, we're at @AbbeyRoad recording a track inspired by Elgar’s Pomp and Circumstance, alongside @PompeUK, @CarrieGrant1 & @DavidGrantSays.

We’re passionate about pioneering new approaches to diagnoses to improve patient outcomes. Some people with rare conditions like #PompeDisease wait 7-9 years to get a diagnosis. Gemma tells us more about her experience 👇

This #RareDiseaseDay we are excited to share a teaser from our #PompeAndCircumstance singing project at @AbbeyRoad We are proud to have brought the #PompeDisease community together to explore the benefits of music 🎵 and to help raise awareness. #MoreToCome #WatchThisSpace

❄ Winter is here again! ❄ This year join us at AGSDUK as we prepare for our winter season. Check out the video to find out more! #agsduk #RareDisease #winteriscoming youtu.be/Qf5kVcSuLiM

Our 'something borrowed' is: Misdiagnosis is an important factor for diagnostic delay in #McArdle disease Renata Siciliani Scalco et al doi.org/10.1016/j.nmd.… #GSD #glycogenstoragedisease

💉Should Covid-19 vaccines be available for vulnerable children? Watch our community check-in where we were joined by Dr Liz Whittaker, infectious disease lead at RCPCH @RCPCHtweets 👉 ow.ly/28vC50FApP8. #vulnerable #Covid19 #vaccine

Public Health England has updated their newborn screening advice documents for all IMD conditions: #inherited-metabolic-diseases-(imds)" target="_blank" rel="nofollow noopener">gov.uk/government/col…

Click here to learn more about the tare GSD Lafora and how a family in the UK are raising awareness and funds for treatment! #lafora #raredisease @laforainitiativ facebook.com/10037003796516…

Finally our 'something blue' is: Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants Elena A. Kamenets et al #GSD #glycogenstoragedisease #GSD0 #IMDpregnancy doi.org/10.1002/jmd2.1…

Our themed tweets begin (rather belatedly) with 'something old' at 2010: The use of continuous glucose monitoring in the practical management of glycogen storage disorders Fiona J. White and Simon A. Jones doi.org/10.1007/s10545…

#RareDiseaseDay2021 is here! Head over to our Facebook page to see our week of rare disease posts, including a special fundraising personal story. #rareisstrong

With only a few days untill rare disease day, watch this space for all thinngs Glycogen Storage Disease. Including patient stories and the latest news updates. We are strong We are proud We are AGSD #RareDiseaseDay #RareDiseases @rarediseaseuk

Great to work with authors on another #visualabstract The natural history of glycogen storage disease type Ib in England: A multisite survey Rebecca Halligan et al doi.org/10.1002/jmd2.1… #GSD #glycogenstoragedisorder @NinalaguerreraO

@JIMD_Editors This is amazing, may I also post to our Facebook page?

@GeneticAll_UK Yes please!

Do you want your logo on the #RareDiseaseDay2021 graphics like the one below?👇Get in touch with us and we will make it happen!

APatientInfo and @RareDiseases to host two "Listening Session" conference calls on Glycogen storage disease type I. Is #GSDI in your family? To be considered, fill out this survey by 2/16: surveymonkey.com/r/GSD1_LS_NORD  #VonGierke #glycogenstoragedisease

My rare disease is part of who I am, but It doesn’t define me 💪 🦸Learn more about the first 6 heroes of #RareDiseaseDay! 👉rarediseaseday.org/page/news/meet… 💬What defines who you are? Let us know in the comments