Annual
Report
Association for Glycogen Storage Disease UK
www.agsd.org.uk
2018/2019
www.agsd.org.uk
AGSD UK
Mile House, Bridge End,
Chester le Street DH3 3RA
Registered Charity no 1132271
Contents
A New Trustee’s View
Rob Seaborne
Chair’s Report
Mike Porter & Nick Jones
Aims, Mission Vision
Mission Statement, Vision Statement
Website & Regional Meetings
Ensuring Good Governance
Jane Guy
SCA Report
Jane Lewthwaite
McArdle Group Report
Andrew Wakelin
Conference 2018
Financial Report
Future Developments
Thank You’s
4
6
9
10
11
12
14
16
17
18
19
20
4 5
I am writing to you as one of the
relatively newer members of the
AGSD-UK team, ofcially appointed
to the board of trustees as of August
2018, to help in steering the charity
into new, exciting and benecial paths. Being appointed as
trustee of a charity is a new role for myself, having not previously
undertaken such a position. For a number of reasons however,
when the chance arose to take up the position, it seemed like the
perfect opportunity.
From a very early age, I was always surrounded by charity and
voluntary work. Both my parents have spent many years either
working in the charity sector, or volunteering on trustee boards
both locally and further aeld. The idea of giving back to the
community is something that has been deeply embedded into
our family culture. This was something I am very keen to continue
and have since regularly sought to raise money for charity, recently
completing various different tness and sporting events. Then,
when the opportunity came up to join the board of trustees at
AGSD-UK and take a more direct role in a charity, it was one that
seemed like the perfect next step for me.
My background is one involved in nutrition, physiology, medicine
and more recently genetics, obtaining undergraduate, masters
and a Ph.D in research themes across these elds. I am currently
a research scientist working at Queen Mary University of London,
researching how environmental exposures interact with our
underlying genetics to shape our bodies physiological traits.
Having a background in nutrition, physiology and genetics meant I
became quickly intrigued by GSDs, and the underlying reason for
why it occurs. It is this that really got me interested in supporting
AGSD-UK as a charity, and the AGSD-UK community, hoping I can
use my knowledge and experience to give back to this community.
A New
Trustee
s
View
5
I have now been part of the charity for just over year. It has been an
exciting and developmental period for both myself and the charity.
Two things have struck me most signicantly of all since joining the
board. Firstly, it very quickly became apparent to me just how much
of a close knit group the AGSD community is. And secondly, it is
clear that the area of scientic development looking into therapeutics
and/or cures for the spectrum of glycogen storage diseases, is one
that is rapidly developing and is thus truly exciting. Both of these
factors quickly became clear when I went to Orlando, Florida for the
WORLDSymposium in January earlier this year. To see the extent of
research, the wide array of organisations, institutions and
communities actively working and supporting the
disease was extremely impressive. Knowing some
of the ‘break-through’ scientic developments
that are now being trialled in drug
development, and seeing some of these
integrated into research looking to cure
GSDs is very exhilarating and something
that we all hope will progress quickly.
The next year promises to be a year of
real development for the charity and
one I am very much looking forward to
being a part of and helping to support.
Robert Seaborne, Trustee
AGSD-UK
Top
Tips
Helpful hints for living well
with Cori Disease
Top Ti ps for Liv ing Well with Cori D isease
for
GSD
III
Recent AGSD UK publications
5
6
Welcome to the AGSD-UK 2018-19
Annual Report. The trustee board are
once again pleased to update our GSD
community and all of our key
stakeholders on the work of the charity during our 2018-19 nancial
year. As always it was a very busy time for the trustee directors, staff and
volunteers.
The trustee board met three times in June 2018, October 2018 and
January 2019. In addition a trustee training day was held in June 2018. A
number of sub-committee meetings were also held throughout the year.
Allan Muir, who had been running the day-to-day operations of AGSD-UK
since 2010, left the organisation in September 2019 to pursue his own
business interests. Allan who has been closely involved with the charity
for over 20 years, has helped AGSD-UK to develop and grow over that
time and provided invaluable support to the UK and international Pompe
community. The trustees would like to place on record their thanks and
gratitude for Allan’s many years of dedication to the UK GSD community.
Our new website was formally launched in January 2019 and I am sure
you will agree it is a signicant improvement when compared to our old
clunky text-based site. The launch would not have been possible without
a massive amount of input and effort from our McArdle co-ordinator,
Andrew Wakelin.
Unfortunately, during the year two of our trustee directors resigned
their positions. Heneage Legge-Bourke our Honorary Treasurer stood
down in February 2019 and Mike Porter our Chairman announced he
would be standing down as Chairman after the January 2019 trustee
board; following ve years’ service as Chairman and more than six years
as a trustee. Mike informed the trustee board that he had set himself a
comprehensive set of personal objectives for the charity to achieve during
his time as chairman, all of which have been achieved.These included:
Stabilising and improving the nancial position of the charity
Strengthening the trustee board
Chair’s
Report
7
Developing and implementing a new website
Putting in place a comprehensive set of policies and procedures
Implementing a secure IT system
Appointing a Specialist Care Advisor for the Pompe community
Implementing a succession planning process for key roles
Mike feels extremely proud and privileged to have been part of the team
taking the charity through the third phase of its development, building on
the great work by his predecessor Andrew Wakelin and his trustee board
and Mike is condent that AGSD-UK will continue to go from strength to
strength.With no obvious replacement for Mike, Nick offered to stand in
as Acting Chair, temporarily. Nick personally believes though that the role
is most suited to a non-working person, (possibly someone working part-
time); so if you would be interested in being a trustee and/or Chairperson,
please make yourself known to the trustees.
One of the key outcomes of the implemented succession plan was that the
trustee board identied that, in order to lead the charity through its next
growth phase; it would require an experienced Chief Executive Ofcer to
be identied and appointed.A strategic objective for the new CEO is to
seek to further enhance the range of services provided to beneciaries, via
successfully bidding for larger tranches of funding.To that end the trustees,
with the help of some senior HR support; initiated a UK-wide search to
identify potential suitable candidates. We received over ninety applications
and, following a robust selection process; Neil Bradbury was appointed
CEO in August 2019. A primary focus for the coming year will be to embed
Neil into the organisation, having him meet all of our stakeholder groups
and to support him in delivering year 1 of our 3 year business plan.
One of the major successes of our Specialist Care Advisor role has been
to provide practical and emotional support to those GSD sufferers going
through the government mandated benets move from Disability Living
Allowance (DLA) to Personal Independence Payment (PIP). The process
for claimants is very challenging and anxiety inducing and I am pleased to
report that Jane Lewthwaite has supported 66 PIP submissions and around
a further 40 submissions for Employment Support Allowance and Carers
Allowance.
88
8
Jane has also been involved in 3 PIP appeals, all of which have been
successful. Providing advocacy work such as this for the UK GSD
community is invaluable in meeting the needs of our sufferers and their
families/careers.
As well as hosting our annual AGSD-UK conference in Wyboston and a
number of regional meetings, the charity was represented at the European
Orphan Drug Congress in Barcelona by Ailsa Arthur, Jane Lewthwaite,
Jason McMillan and Allan Muir, by Rob Seaborne and Allan Muir at the
World Symposium on Lysosomal Storage Disorders in Florida and by
Jane Lewthwaite at the Genetic Alliance Annual Meeting in London. As
previously reported attendance at such events contributes to our store
of knowledge regarding emerging developments in the eld of GSD
diseases as well as supporting the ‘vision’ of AGSD-UK in being the
primary and central focus for information and support, driving positive
change for all people affected by Glycogen Storage Disease.
Finally the trustees would like to wish our longest serving trustee, Jayesh
Pindolia, a speedy recovery from a life threatening illness that has
incapacitated him since January 2019 and hope to see him soon at future
trustee meetings.
Mike Porter – until January 2019
Nick Jones – Acting chair from January 2019
Mike Porter & Nick Jones
99
Aims,
Mission
& Vision
AGSD-UK provides support and help for
individuals and families affected by an ultra-
rare condition known as Glycogen Storage Disease
(GSD). Glycogen is a stored form of glucose, which is used as a fuel for
energy. Glycogen Storage Disease occurs when there is an absence or
deciency of an enzyme needed to produce or break down glycogen.
GSD primarily affects the liver and/or the muscles, including the heart.
The charity gives support to those with all GSD Types. There are
currently 16 known Glycogen Storage Diseases; most have sub types
and some have tiny numbers of people affected. Incidence, number
diagnosed and age of diagnosis vary enormously.
AGSD-UK aims to help patients and their families affected by Glycogen
Storage Diseases in a number of ways.
Act as a patient and family contact and support group
Provide information on request by phone or email
Hold GSD-specic workshops
Carry out, promote and/or support research and surveys into
GSD
Publish a newsletter for all stakeholders
Create information and resource materials
AGSD-UK organise an Annual Conference which usually takes
place over two days in the autumn and is attended by people
with GSDs, their families and many medical professionals,
laboratory scientists and researchers
Mission
Statement
Supporting people
affected by GSD to live
positively with their
condition.
Vision Statement
To become the primary and
central focus for information
and support, and driving
positive change, for people
affected by GSD.
9
Andrew Wakelin, GSD5 co-ordinator,
led the development of our new
website and delivered a complete
redesign and restructure for the website. He gave several months
of work as a volunteer.
Currently we are getting an average of 2,900 visitors per month,
with over 7,500 page views. 35% of users are from the UK, 29%
from the US and the rest from all around the world. Smartphone
usage is growing, with now 47% of users on that platform,
another 47% on desktop computers and 6% on laptops.
In the most recent month, apart
from the homepage, the
most visited page was
our news story on a
Netix documentary
mentioning muscle
GSDs.
A New
Website
10
GSDs.
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11
Regional
Meetings
Regional meetings provide an
opportunity to meet and make new
friendships, share information, and connect
which is vital for our GSD community in the UK.
The Pompe Support Team enabled four regional meetings for
International Pompe Day in April.
The Cori Action team held a social event in May. Note Cori
the Cat, centre stage in the photo, who is a new mascot for
Cori disease. All children with GSD3 were sent a mascot toy
and comic about Cori’s adventures. Very positive feedback
was received from children who are very isolated.
Cori the Cat at the GSD3 Get Together, March 2019
12
We have 7 trustees with
a range of skills but in
particular; experience of
glycogen storage disease and
knowledge of the disease as a prime carer or with a family
member, management, marketing, nances and IT. Where
necessary they seek advice from experts. All trustees are
ambassadors for the charity and act in the charity’s best interest
at all times to meet the aims and objectives of the charity and to
ensure it is of public benet.
A full Induction Day and brieng for the Trustee Board by the
staff followed by a lengthy discussion which formed the basis
of our new 3 year Business Plan was held. Trustees were able
to consider the feedback and comments gathered from our
2018 Stakeholder survey. Our volunteer survey in 2018 told
us our volunteers felt valued and they had gained a great deal
of satisfaction from their work but needed more brieng and
information to feel better supported.
Trustee Ailsa Arthur prepared and sent an AGSD–UK awareness
raising pack to 114 hospitals in the UK who offer services to
people with a GSD. We continue to need to extend our reach.
Trustees take full responsibility for managing the nances
including monitoring their performance with good budgetary
and nancial controls in place to keep funds safe. We have
agreed a strategic plan for income generation and with the
recruitment of our rst CEO believe we can be much more
successful. We appreciate how important it is to manage
our limited resources very carefully and efciently and with
reasonable skill and care.
Ensuring Good
Governance
13
We are of course accountable rst to the Charity Commission
and Companies House but also as an employer of staff to have
relevant policies in place to ensure we keep up to date with
current laws such as for pensions, employment and health and
safety. All 25 of our policies were reviewed and a refreshed
Safeguarding Policy was adopted by Trustees. Jane Lewthwaite
is our Safeguarding Ofcer who conducts the annual review
of DBS check requirements in the organisation for all staff and
volunteers.
We are also accountable to our membership, especially at
the annual conference and AGM, and to ensure the greatest
transparency we provide regular newsletters, hold meetings
and keep our new website up to date.
As a charity, with staff who support people with serious health
impairments, which includes many of our volunteers, we
recognise the need to provide continuing support and care to
them all.
Jane Guy, OBE
Trustee & Secretary to the Board
recognise the need to provide continuing support and care to
recognise the need to provide continuing support and care to
As a charity, with staff who support people with serious health
impairments, which includes many of our volunteers, we
recognise the need to provide continuing support and care to
the annual conference and AGM, and to ensure the greatest
As a charity, with staff who support people with serious health
recognise the need to provide continuing support and care to
1414
The Pompe Specialist Care Advisor is tasked
with these aims:
To make a positive difference to the lives of people affected by
Pompe disease through providing non-clinical advice, support and
information to patients, parents and care-givers.
To enable people affected by Pompe Disease to access a range of
non-clinical services with the object of enhancing and improving
their quality of life.
To provide advice and support for all referred individuals and
families on a broad range of quality of life issues including;
benets, housing, nance, aids, mobility and travel, grants,
counselling, access, safety, education and employment.
To ensure people who need the service are not excluded.
Most support is provided via phone, email and Facebook with some home
or hospitals visits.
Enabling representation
and building a voice:
The Care Advisor promotes
opportunities for raising
awareness of the patient voice
and of GSD as a rare condition.
The Pompe Support Team is
vital in providing speakers for
events, Industry meetings and
conferences. In March the team
had one-day training in Health
Economics provided by Francis
Pang.
SCA Report
1515
Grants
Nine individual £100 grants from Campbell Burns
Metabolic Trust
Eight In-house individual grants total £1,630
£560 towards a family holiday from the Sandcastle Trust
A £500 grant towards white goods R.E.A.C.T
Two applications made to Merlin’s Magic Wand for trips
One application made to Short Breaks for children
Projects
Family Days
Hospitals are invited to collaborate. SCA arranges the day, including food,
entertainment, craft, promotion and volunteers. During the event the
priority is to promote AGSD UK and gather registrations. Every individual
is followed up with phone calls and information such as leaets or tailored
advice. News items are submitted for the website. Feedback is gathered.
Funded by a grant from St James Place.
Great Ormond Street Children’s Hospital
Evelina Children’s Hospital
Birmingham Children’s Hospital
International Pompe Day April 15th
A key aim was to deliver regional events for people with GSD2. For the
last four years PST has been supported to deliver a weekend social but
this is always in the Midlands and attended by more or less the same small
group.
Events were planned in Stoke [a weekend social run by Ben Parker], Swansea,
Southampton, London and Bolton. The latter two were cancelled but all the
other events were well attended and successful, including new faces.
GSD Kids Camp
September 2018 Kids Camp was provided by Over
the Wall and funded by Shire Pharmaceuticals.
Benets for children were extensive. Over the
Wall provide a very high quality experience
with attendant medical staff. However, their
administration had issues and three GSD families
who wished to attend missed the event.
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Jane Lewthwaite,
SCA (Pmope)
16
We now have 320 people diagnosed
with McArdle disease in the UK, of
which about 240 attend the national
McArdle disease clinic in London. We
support the clinic in a number of ways. The
clinic is now organised so that there can be a one hour patient group
meeting around lunchtime. This is especially helpful for newly diagnosed
patients to meet those with experience of the condition. Our members
participated in a number of trials in London and Copenhagen.
In the summer of 2018 we ran our walking course in the Brecon Beacons
National Park for the rst time, having previously been in the Snowdonia
and Pembrokeshire National Parks. Both the main course and the Children
& Parents event were located in self-catering accommodation near Hay
on Wye. Several of the walks were highlights, including a circuit over
Hay Bluff, one that included going behind the cascading water of a
waterfall, and a large group summited Pen y Fan, the highest mountain
in southern Britain at 2,907 ft. A remarkable achievement for a disparate
group of people with a muscle GSD. Both events were great successes
with participants coming from England, Scotland, Wales, Ireland, France,
Germany, Belgium, the USA and New Zealand.
We supported the continuing development of the international body
for muscle GSDs – IamGSD, including helping to host an international
workshop on the future of nutrition for McArdle disease, held in London
in November. We also supported the German self-help group SHG at
their annual conference, including running a few
hours practical workshop on the lines of our
walking courses.
Andrew Wakelin
McArdle Group Co-ordinator
McArdle
Group Report
their annual conference, including running a few
hours practical workshop on the lines of our
McArdle Group on Hay-Bluff
Conference
2018
Our conference was held at the Wyboston
Lakes Centre near Milton Keynes and was
well attended. We welcomed a total of 180
delegates including 49 affected by GSD members.
Our crèche was provided by the Bulwell Toy Library for the second year
running.
We had colourful displays of the AGSD UK Teens Project, AGSD UK Kids
Camp, Hope the GSD2 Sloth Mascot, Mangar Camel Floor Lifting Device
event and with Accuvein.
Feedback on the success of the conference remains fairly consistent over
the year. The primary reason people attend the conference is for social
contact, making friends and networking. Secondly, delegates want to be
updated on the latest research, new learning and improving knowledge.
Mentioned by some, and also very important, are the contacts they make
with medical professionals. Interestingly a lot of people mentioned a wide
variety of benets.
Feedback comments from conference
grouped, and in order of frequency;
Social: meeting friends, renewing friendships,
making new contacts.
New research and updates
Increased knowledge
Contact with medical professionals
Personal development & coping:
hope
17
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2
3
4
5
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18
2018/19 was a challenging year for all and AGSD UK was no exception. We
are proud of the fact that the ranges of our services continued to grow and
we almost doubled our unrestricted reserves over the year.
Due to an anomaly with our major institutional funders paying us on a
calendar basis rather than a nancial year, little income has been received
in 2018/19 but the sums are now in AGSD UKs account for 2019, making
a healthy picture better.
Fundraising and conference income did slip slightly and the board have
developed a business plan to help reverse this, including the appointment
of a new CEO and a business plan with fundraising strategies.
2018/19 has laid further foundations for the growth of the charity in the
coming years. With the advent of improved diagnosis, AGSD UK is poised
to welcome more people with FGSDs into our supportive family.
Financial
Report
Restricted:
£103,566
Unrestricted:
£64,074
TOTAL
EXPENDITURE:
£228,035
Restricted:
£161,080
Unrestricted:
£66,955
TOTAL
INCOME:
£167,640
18
19
Future Developments
The board of AGSD have set out a business plan outlining a number of
strategic ideas for development. AGSD has always been an excellent
advocate for patients with GSD, offering practical support for people with
GSDs and their support mechanisms. Going forward we want to provide
more services like the Specialist Care Advisor and build on the success of
our services for children and families.
As genetic testing becomes more prevalent we want to bring the
diagnosis time down for GSDs and as a result welcome more people into
the AGSD UK family. We will be looking for more resources to do this.
We need to diversify our funding base so that our services can continue
regardless.
One of the great strengths of AGSD UK has always
been its unity across the GSDs. At the start, the
focus was on GSD 1 as that was pretty much the
only GSD with any level of diagnosis. Now we
have strength across most of the GSD types
and there is a wealth of treatments and
support in some areas. We have funds
for most of the GSD types meaning that
people can, and do, fundraise to support
people with experience in specic
types but we are keen to continue to
support people with all of the GSDs, not
forgetting the rarer and underserved
type groups.
Our experience shows that many
GSDs are underdiagnosed so the ultra
rare GSD of today may become more
well diagnosed as we raise awareness.
The unique way in which AGSD works,
with specic disease types and across the
full spectrum is a real strength and something
to be proud of.
Thank
You
We take this opportunity to thank all our
wonderful fundraisers.
We are grateful to all our supporters who have used the following events
to raise sponsorship money:
London Marathon
London Vitality 10k run
Prudential Ride London-Surrey cycling events
Project JOGLE cycle from John O Groats to Land’s End led by the
daughter of member Joan Wright
We thank everyone who contributed by organising local events such as bake sales
or book stalls and especially those who requested donations to AGSD-UK in lieu of
birthday presents.
Major donors who support our work are generally biotechnology or specialist
nutrition companies:
Amicus Therapeutics
Audentes Therapeutics
Sano-Genzyme Ltd
Spark Therapeutics
Valerion Therapeutics
Vitao International
Trusts and Foundations who supported us and our members throughout the year:
St James Place Foundation
Campbell Burns Metabolic Trust
Buttle UK
Sandcastle Trust
We thank all of those who volunteer their time to AGSD-UK. Together the value of
their donated services was an amazing
£62,320
AGSD-UK could not exist without the wonderful work of our team of GSD
Co-ordinators who we would also like to thank sincerely.
Donations from the public raised
£19,018