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The Spring 2019 edition of our AGSD-UK magazine Glisten, for members and all those interested in the world of glycogen storage disease.

Spring 2019
AGSD UK 4 Message from the Charity Director 5 Message from the Chair of Trustees 6 Membership CONFERENCES 7 Conference 201...
Message from the Charity Director  Looking for young Trustees  WRIT TEN BY ALL AN MUIR  Welcome to our bumper edition of t...
Message from the Chair of Trustees WRIT TEN BY NICK JONES     ACTING CHAIR, BOARD OF TRUSTEES  A brief update on the activ...
Membership  Corporate Membership  AGSD-UK values its members as outstandingly important supporters who can influence the d...
How to promote membership Please suggest corporate membership to your employer and other businesses who you think would su...
Keep AGSD-UK Updated Please keep AGSD-UK Updated with your contact details. Make sure that you receive all of our importan...
AGSD-UK Conference 2019  Weekend of 5 and 6 October 2019  Daresbury Park Hotel  9
AGSD-UK Conference 2019 Keynote Speaker Baroness Walmsley  Liberal Democrat Deputy Leader in the House of Lords. Vice Chai...
A cr  che will be available throughout both days of the conference.  Bedrooms can accommodate two adults and one child, so...
Networking with professionals and meeting others who are experiencing the same things as you is invaluable. Having your ch...
After highlighting the animal models and  the  benefits  of  Continuous  Glucose Monitoring  CGM , Stephanie described a p...
Colorado and then Pittsburgh in 1982. He has over 2000 publications and died in 2017, aged 91. He performed early experime...
Experience of liver transplantation is limited in GSDs, some published data was presented and to finish Dr  Vara highlight...
Dietary supplements may also be the following are required  recommended        Folic acid, 400   g daily before pregnancy ...
Normal paediatric follow up should be arranged for weight, vaccinations, development etc. If you have specific  concerns y...
The goal of the current treatment is to provide a continuous supply of glucose to maintain plasma glucose concentrations a...
Several of us including myself contacted the company making the programme and explained why we thought this could be McArd...
mother Barbara has been able to access excellent medical support for her use of the diet. David Thompson gave an account o...
manager. Sonia explained the role of the PLP is to help and advise the clinic  and  its  staff  from  the  patient  perspe...
Conference 2018 Reports Pompe Workshop Report A RE VIEW FROM JOHN FOX WELL, PST.  Lozenges for users of non-invasive venti...
impossible so sharing can be a real issue. Our virtual Pompe family on Facebook is always a good place to discuss issues b...
Jane Lewthwaite Jane wanted to speak about work with children and young people. They have different needs, especially  tee...
investigational drug, or alternatively I   ll have 3 years of the investigational drug. I will be in hospital for every tr...
that I could complete both in the same day to save me having to make 2 trips. I have a very small amount of paperwork  to ...
             IOPD - Infant data after ERT  showed improved cardiac measures. Unmet needs remained and there are variations...
Gene Therapy Research Trials Audentes They have introduced trials for gene therapy for other conditions than GSD2. They ex...
walk on a given day, but also one   s gait, imbalance and other elements of walking  and  Activity monitors, such as      ...
Nutrition Workshop Abibat Gbadamosi, Dietitian Specialising in Inherited Metabolic Conditions, Royal Free Hospital, London...
F.O.D.M.A.P A few people have tried a FODMAP programme which excludes certain food groups for a period and then slowly int...
Pompe Disease  An Overview and Strides made since Approval of Alglucocidase Alfa in 2006. Stephanie Austin, Genetic Counse...
Through NBS we learned that LOPD is not only an adult disorder and to start treatment as early as possible. However, some ...
Fat Infiltration into the muscle Whole body MRI can be used to survey muscles and monitor fatty infiltration however it is...
muscle damage. Limitations to gene therapy might include       Limited effectiveness       The body can attack the vector ...
first such as removing the cannula.   Homecare would be very flexible with their patients. Many more discussions need to b...
down to individual hospitals and it is usually spread over more than one provider. Q 5.  What if I am doing a self-infusio...
WORLD ORPHAN DRUG CONGRESS EUROPE 2018  REPORT BY JANE LEW THWAITE, ALL AN MUIR, AIL SA ARTHUR AN D JASON MCMILL AN  Barce...
interpreted, patient advocates can speak up and ensure their opinion about a new treatment is heard. Patients need to be u...
patient   s own bone marrow, modifying it externally, and then replacing the gene-corrected cells after    conditioning   ...
      top 40 clinical features then calculate the top 10.  Identify  the  top  three  physician  specialities  and  target...
Research  Audentes Pompe Gene Therapy Survey LET TER FROM AUDENTES THER APEUTICS  Thank you for your input  In June of 201...
Research  WORLD 2019 visit report WRIT TEN BY ALL AN MUIR  In February this year, I was accompanied by our Trustee, Rob Se...
Both encourage people living with Pompe to show how they are getting on with their lives, in spite of the condition  the  ...
AvroBio Fernanda Copeland, Director, Patient Advocacy  registered dietitian , Gabriel Cohn, VP, Clinical Development Lead ...
Valerion     Deborah Ramsdell, CEO Dr Ramsdell met with us to provide a brief update on their programme for Pompe and othe...
CATS  Cori Action Team Support CATS is a group of patients and carers who met back in the spring and with much encourageme...
Walking events Summer 2019 in Pembrokeshire  Gabi  Germany  and Stacey  Canada  above Bosherton Lakes next to our base.  D...
Changes of staff at the McArdle Clinic  Other news from the McArdle   s world  We  are  very  pleased  to  welcome  two  n...
Nick Pearson   s Mobility Scooter The plan is to add a few days to the end of the conference to run a short walking course...
Wendy House Nursery signs up to Jeans for Genes CATS member Nikki Christie asked friends and family to fundraise for AGSD-...
6.  7.  Efficiency Next steps  including legislative change   One particular paragraph that holds some hope for improved d...
Sports massage for a patient with Pompe Disease case study. One of my patients is a 43 year old gentleman with a history o...
In addition to my massage techniques I used Muscle Energy Techniques aka MET. MET is a manual therapy that uses the gentle...
period of time such as the 4 treatments that were available for this case study. I intend however to continue treating the...
give as you live  Ama zon Smile  Donations to AGSD-UK from online shopping  AmazonSmile is an alternativeway for you to co...
Legacies  Fundraising ideas  Leaving a legacy  www.agsd.org.uk help-us-help fundraise-for-us  Our website has a list of or...
Halloween Cones A great example of raising funds at work was brought to my attention by Lydia Parmenter who joined with co...
Contacts The AGSD   -   UK Ltd is managed by  a Board of Trustees elected by its members at the AGM held each year during ...
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