Glisten, January 2013 - AGSD | Association for Glycogen Storage

Transcription

Glisten
www.agsd.org.uk
Volume 11 Issue 1
Glycogen Storage News
A Celebration in Music
Conference Report 2012
NHS Commissioning
Fundraising News
GSD in the news
Team GSD
January 2013
2
Glisten, January 2013
Contents
3 Development update
4 NHS Commissioning for metabolic diseases
6 Meet our new trustee, Mary Middleton
7 Conference 2013
8 Conference 2012 reports
14 Aids to Daily Living, Sam Murduck
16 Pompe Workshop reports
20 About Breathing: Need to Know, Nice to Know
22
International symposium on hepatic GSD
McArdle's Downhill Walking Course
24 Meet Rocco, GSD IV
26 Sell on eBay for AGSD-UK
27 Besses o’ th’ Barn Band - Celebration for the AGSD-UK
28 Exercise in late-onset Pompe disease, Steve Dando
29 GSD boy features on ITV Granada Reports
30 National homecare specification for LSD service
32 Effectiveness and associated costs of ERT,
Stuart Logan
33 Lysosomal storage disorders – A practical guide (advertisement)
34 Forthcoming fundraising events and Team GSD
37 McArdle publications and Online children’s storybook
38 Holy cow! Meet girl who has to drink 6 pints of milk every day to stay alive
39 AGSD-UK Contacts Page
40 GSD Giant advertisement
Cover photo:
Besses O’ Th’ Barn Band as Dr David Weinstein looks on approvingly
www.agsd.org.uk
3
Development update
Fundraising is currently becoming an obsession
with me; I was very conscious of becoming a
cycling and charity bore at Christmas social
gatherings recently. As well as setting up the GSD
Giant Cycling event (see back page) I’m constantly
trying to attract cyclists, sponsors and advertisers
through email, Twitter, Facebook and the
Internet. I always carry a pack of advertising cards
when I set out on my training rides, in the hope of
meeting cyclists in coffee shops or stopping to fix
a puncture. I’m a rare cyclist that likes to see
fellow riders in trouble!
If you have any ideas, from a small fundraiser to a
large organised event, please do share them with
either myself or Steve Saunders to see how we
can work with you to make it a reality.
It may be time that we organise another overseas
walking or cycling event, but we will need to find
individuals to take part who are motivated to raise
large sums of sponsorship. So if you’re aware of
individuals or groups of people who would be
looking for such a challenge, do let us know.
One fantastic event in November was the Brass
band and choral concert organised by Brian
I spend hours at home trying to manipulate
Topping. The evening was hugely entertaining and
Twitter and other social media to improve the
it raised funds and a great deal of awareness of
hits on our website in the hope that by August
GSD in the Greater Manchester area, for which
we’ll have in excess of 500 people signed up to the we are extremely grateful. A spin-off from that
GSD Giant. That number of entries will ensure
event will hopefully be announced soon - it
that we make a healthy profit and that funds raised involves a world record breaking spin-bike event
in sponsorship will make a significant contribution at the Manchester Velodrome.
to our service.
Of course there are many small ways that you can
But somehow we all need to do much more if we help; we have adverts within this newsletter for
are to meet our objectives to grow the charity
“Give as you Live” and eBay; methods to attract
and provide effective grants for medical research. small donations through online purchases or sales.
Our grant applications to charitable trusts have
Please do what you can to encourage your family,
had a disappointing response over the years,
friends, colleagues to join one of our events and
largely due to the high competition from other
then maybe I’ll become more interesting company
charities, but we will keep plugging away at them. at parties and will be able to enjoy cycling without
To ensure the continued development of the
carrying that discrete
AGSD-UK, however, we will always be reliant
box of carpet tacks in
upon our supporters to help us achieve our
my jersey pocket!
ambitions.
Hypothetically, if in each year, everyone on our
mailing list was able to raise just £100 in
sponsorship from friends, family and colleagues,
we would be in a very healthy position. Thankfully
many of our supporters do raise funds on our
behalf, as you will see from within these pages.
But between us we need to come up with some
clever ideas that attract additional public support.
Allan Muir
Development
Director
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NHS Commissioning for Metabolic diseases
As you may be aware, in England NHS
commissioning will undergo major changes this
year; to quote from its own website:
“The NHS Commissioning Board (NHS CB)
plays a key role in the Government’s vision to
modernise the health service with the key
aim of securing the best possible health
outcomes for patients by prioritising them in
every decision it makes.
Formally established as an independent body,
at arm’s length to the Government, on 1
October 2012, it will carry forward the
preparatory work begun as the NHS
Commissioning Board Authority while taking
on initial statutory responsibilities. The most
notable of these responsibilities being the
authorisation of clinical commissioning groups
(CCGs) which are the drivers of the new,
clinically-led commissioning system introduced
by the Health and Social Care Act.
The NHS Commissioning Board will take up
its full statutory duties and responsibilities on
1 April 2013.”
www.commissioningboard.nhs.uk
for the adult service:
 Increased professional education of medical
staff in IMDs
 Concentration if expertise in a limited
number of specialised centres
 24-hour telephone advisory service
 Timely diagnosis with counselling and
psychological support
 Dedicated IMD inpatient and outpatient
facilities
 High quality proactive diet and/or drug
treatment and care
 Agreed care pathways and treatment
protocols
 Smooth transition from paediatric to adult
services
 Equity of access to services for the IMD
population
 Prepare IMD Centre databases in preparation
for National IMD Register
Key Service Outcomes
 National Patient Register
 National register of research trials and
outcomes
 Annual audit/governance report
 Process measures as proxy for outcomes of:
 Early diagnosis
 Improved patient life expectancy
 Prevention of avoidable death from IMD
As a part of this transitioning process, the
Metabolic Clinical Reference Group (CRG), led
by Dr John Walter (scientific advisor to the
AGSD-UK), has produced draft service
specifications for the Specialised Services for
or its complications
Inherited Metabolic Disorders (IMSs); these
 Improved quality of life (through patient
have been produced for both Adult and
and family/carer questionnaires)
Paediatric services. The proposals offer many

Fewer investigations in other specialties
desirable attributes that could, in time, lead to a
(e.g. cardiology, nephrology, etc.)
much improved service for all GSDs. The
following are just a few of the recommendations Whilst these recommendations have not yet
www.agsd.org.uk
been agreed for the IMD service specification,
they show that the CRG certainly clearly
understand the needs and wishes of the GSD
community. The draft service specifications can
be downloaded from the NHS CB website
below.
5
E6a Metabolic Disorders: Adult
E6b Metabolic Disorders: Children
The IMD community, including patients, families
and carers, are all encouraged to submit our
views on the via the on-line survey on the
consultation web page.
The two documents of most interest are :
www.engage.commissioningboard.nhs.uk/consultation/ssc-area-e
At the same time the LSD patient groups
coordinated a letter-writing campaign in England.
Patients and families wrote to their Members of
In the last issue of Glisten I raised concerns by
Parliament, the Prime Minister and Deputy
the UK community of Lysosomal Storage
Diseases (of which Pompe is one) that proposed Prime Minister. 450 letters were sent to David
Cameron alone and the effect of this campaign
changes to the commissioning of the eight LSD
cannot be underestimated. I would like to offer
Specialist Centres would be detrimental to
my most sincere thanks to everyone who took
patients. The collaboration of patient groups
(including the AGSD-UK) have works hard over the time to write.
many years with the specialist centres and the
Three family members of the MPS Society, were
various DoH and NHS commissioning bodies
also able to meet with their local MP, the Rt
(from NSCAG through to AGNSS) to develop
Hon. Jeremy Hunt; Secretary of State for Health.
an efficient system for delivering low-volume
Mr Hunt was very supportive of the families and
high-cost drugs such as Myozyme for Pompe
through them seemed to understand our
disease. Indeed members of the patient
concerns.
collaboration were routinely invited to sit with
clinicians in meetings with the commissioners to As a result of this campaign and after several
other twists and turns, we managed to gain an
discuss service provision.
audience with Kate Caston, now the Head of
Our concerns centred on a number of issues:
Specialised Commissioning (Corporate) within
the NHS Commissioning Board. The meeting
 Losing the close collaboration of LSD
commissioners, service providers and patient was held with patient group representatives and
clinicians each of whom described the benefits of
groups
the current system together with a history of
 Losing the key commissioning personnel with the improvements and efficiencies we have
expertise in LSD services
collectively made to the LSD services, including
database cleaning, homecare services and drug
 Losing the ring-fenced budget for national
appraisal processes.
commissioning of LSD services
Mrs Caston was genuinely impressed by the LSD
 Losing the appraisal system for new LSD
Collaboration and has subsequently made a
treatments
LSD Service Commissioning
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number of recommendations that are a great
comfort to us all. Indeed the only concern not
covered was that of a ring-fenced budget; but
we now feel that that is not as important as we
originally feared; so long as the budget for all
Specialised Services remains in surplus to allow
new therapies to be commissioned as and when
they become available.
On an even more positive note, Mrs Caston said
that she was so impressed by the collaborative
working between LSD Centres, Patient groups
and commissioners, that she would consider
using it as a model for other specialist disease
groups.
So well done everyone, and thank you!
Allan Muir
Profile of Mary Middleton, our newest trustee
Mary has Glycogen Storage Disease Type
IA (Von Gierke).
England and the effects of the social, religious
and political changes of the Reformation on art
and architecture, with a side interest in the
Mary presented with severe hypoglycaemia
Napoleonic Wars. Her MPhil was an 80,000
within hours of her birth and after a very
word thesis on Angelology and the Angelic
traumatic fifteen months and three pounds up
Hierarchy in English art from 1450-1650. She
on her birth weight (8 ½ pounds at birth and
left academia in 2010 to pursue pastures new,
11 ½ pounds at fifteen months), she was
away from the library stacks. She now works as
diagnosed at Great Ormond Street Hospital for
a director in an investment property and
Children and was treated under the excellent
development company. Mary has frequent
care of Professor James Leonard and Dr Philip
meals and cornstarch during the day. At night,
Lee. She is the youngest of three children and
she still has her nasogastric feed
the only one with GSD. After a
as her sugar levels do not last long
normal education, she graduated
enough to have cornflour during
in 2001 with a 2:1 degree in
the night. In 2011 she married
History of Art from the
Dominic Middleton and they
University of Leicester and
reside in Leicester. Her hobbies
enjoyed academia so much that
include ballroom dancing and
she became the eternal student
hiking. She and her family
and continued at the university
attended the earliest meeting of
and gained an MA in Humanities
the AGSD-UK and says she is
and an MPhil in History of Art.
delighted to be joining the board
Her research interests lie in
of trustees.
religious art of late medieval
New GSD Type VII Coordinator
Marilyn Silver has taken on the role of coordinating all our members living with GSD VII. At this
time that amounts to looking after herself! But Marilyn hopes to contact other Type 7 people in
the near future. She’s been in contact with a doctor in Israel and hopes to be shortly in contact
with another. See the blue box opposite for more information on GSD VII.
www.agsd.org.uk
7
Conference 2013, Holiday Inn, Bristol
Save the date: October 26th and 27th 2013
This year we’re hosting our annual conference
in the Southwest of England at the Holiday Inn,
Filton, Bristol. We realise that October 26/27 is
the first weekend of school’s half-term, but
hopefully we won’t lose too many families or
speakers as a result.
About the hotel
The Holiday Inn offers ideal conference facilities
for us, all being on the ground floor. We will
have access to all of the conference and
syndicate rooms of various sizes that should suit
our workshops very well. There are four
accessible bedrooms, also on the ground floor.
The hotel is in a thriving business area and is
next door to the University of the West of
England and Frenchay Hospital.
The conference will start with a buffet lunch at
noon on Saturday 26th and will finish at 3pm on
Sunday 27th. So we have a couple of extra
hours to work with. It has been suggested that
we finish the conference with all GSD Types
together where we can, perhaps, make awards,
give thanks, and announce the 2014 conference
date and venue.
We’ll be planning the workshops throughout
2013 so please let Allan Muir know if you have
any ideas on how we can improve the weekend.
A leafy driveway leads to the lakeside Holiday
Inn, Filton, Set in 11 acres of countryside it is
seconds from the M32, the hotel is within easy
reach of the M4/M5 interchange, and has a
complimentary car park.
Bristol Parkway train station is 5 minutes away
and its just a short drive to pretty Cotswold
villages. Harvey Nichols and boutiques can be
found at Cabot Circus, 4 miles away.
Guests can enjoy complimentary use of the
spirit leisure club, a fully equipped gymnasium,
heated swimming pool & sauna.
Spa Facilities and an on-site beauty therapist are
now available to all residents and non residents.
Various beauty treatments available.
Appointments must be booked in advance,
please call 0117 9701462.
GSD Type VII is also known as Tarui disease or muscle phosphofructokinase deficiency.
The clinical features of Type VII are similar to those of Type V with onset of more severe fatigue
and muscle pain early in exercise. Symptoms are evident in childhood. Type VII is caused by a
deficiency of the phosphofructokinase enzyme which is needed to facilitate the breakdown of
glucose into energy in muscle during exercise.
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Conference Reports
Feedback from our annual conference in September 2012
HEPATIC WORKSHOP REPORTS
Sue Del Mar, Type I Coordinator
We are most grateful to Dr Elaine Murphy
(National Hospital, London) who organised the
various workshops and arranged for a formidable
array of professionals to lead them.
of the recent history of GSD. In the 1970’s the
prognosis of GSD was poor. In particular children
born with Type 1a did not survive: it was a fatal
diagnosis. In 1982 corn-starch was introduced.
There have been many advances since then
particularly over the last decade.
10 years ago the diagnosis of GSD was made by
On Saturday Marjorie Dixon, chief dietitian from
liver biopsy. Now the diagnosis is made by a
Great Ormond Street led a workshop for children blood sample or even saliva sample testing for
with their parents on healthy eating and exercise
DNA.
which was much enjoyed by all who took part.
There is now better understanding on the
There were very few teenagers at the conference prevention of kidney stones and liver adenoma.
so Dr Paul Gissen’s session for teenagers with
There are no limitations now on exercise and all
hepatic GSD was sparsely attended. However
exercise is possible. There is improved knowledge
providing an opportunity for teenagers to air their around the condition and advances have been
views and talk about their problems will hopefully made in the prevention of complications and the
lead to more of them attending in the future.
treatment of GSD.
The workshop on diet led by Heidi Chan and
Charlotte Ellerton of University College Hospital,
London, was the most well attended and there
was much discussion on the management of diets
and their consequences.
What emerged very clearly was that diet is most
definitely a major priority in the treatment of the
hepatic GSD’s and also that there are distinct
differences between the Type I and Type III
regimes.
On this premise it was decided that we should
concentrate on diet and all the things that go with
it at next year’s conference and also that there
will be separate workshops for GSDs Type I and
III.
PRESENTATION BY DR DAVID WEINSTEIN
University of Florida
The current situation is that no children and less
than 10% of adults can sleep through the night
without having to wake for food supplements for
those suffering with Type 1a. Many people with
Type 3, 6 or 9 still need overnight treatment for
optimal control. Oversleeping or hitting the
snooze button on the alarm can cause severe
hypoglycaemia.
Research advancement: Glycosade was approved
in 2009. A new improved formulation was
released in 2011/12. Many older children can now
last 8 to 10 hours overnight with normal glucose,
lactate and ketone concentrations. It is a
handmade product now which ensures quality. In
Dr Weinstein’s centre there have been over 50
people tested with it and their findings have been
that it is not so beneficial through puberty and it
should be used carefully in young children.
Dr Weinstein initially gave a background overview A second research advancement is prevention of
www.agsd.org.uk
complications. Good metabolic control can
prevent complications e.g. benign adenoma’s in
Type 1 used to be as common as 70% whereas
now with better control the incidence is only 5 –
10 %. Other complications mentioned were
osteoporosis (1a, 1b, III), anaemia (1a, 1b), splenic
(1b), cardiomyopathy (iii), cirrhosis (IX) and
growth (all types). Research has shown that raised
triglycerides are associated with the development
of adenomas in teenage years. If through good
control triglycerides are maintained to below 5.6
the incidence of adenomas is lower. The mean
triglyceride level at which adenomas develop is 8.3.
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there is the highest incidence of GSD III in the
world. On this island 1 in 22 people are carriers.
Dr Weinstein is conducting trials on this
population.
Next Dr Weinstein talked about recent gene
therapy approaches. He stressed that this is a
team approach. GSD 1a is naturally occurring in
Maltese dogs. It causes a severe type of the
disease and death is usually within 1 hour of birth,
certainly no dog prior to the study had survived
for more than 4 hours. Clinically they are identical
to humans. The first trial dog was born
September 11th 2007 (Dolfie). Prior to gene
Cardiomyopathy – this used to be common due to therapy her BM’s dropped to < 2 mmols within 1
an over-storage of carbohydrate in the heart
hour of eating. Two weeks post gene therapy she
muscle. Current evidence is that if you cut the
was keeping her sugars better maintained. She had
carbohydrate down only using the minimum
a second treatment in January 2008 and is now
amount for proper glucose control and replace
able to fast for more than 9 hours. She stopped all
with more protein then the incidence of
treatment in March 2008. There have been 9 dogs
cardiomyopathy is reduced. It is important to
that have undergone gene therapy so far. There
avoid over-storage in Type III.
have been no GSD complications and no
adenomas that have been noted in any of these
Liver transplantation is still a last resort. The one
dogs. This is very promising treatment for Type
year survival following transplant is 82% and ten
1a’s. For Type 1b’s, mice so far have been cured
year survival is 64%. Both these statistics are still
with gene therapy but no higher animals have been
better than a transplant on any other population
studied.
but obviously still not ideal. Following transplant
the renal complications are still common in Type
PREGNANCY IN GSD TYPE I
1. In Type 1b there is a high incidence of infective
Dr Annalisa Sechi is the co-ordinator for rare
complications as neither the neutropenia nor the
diseases in Italy. She is a Dr herself and also has
inflammatory bowel disease is cured with a liver
Type 1a. She presented a study undertaken in Italy
transplant. With Type IIIa there is still a
last year. It took 32 women, 25 of which had Type
worsening of cardiomyopathy.
1a and 7 had Type 1b. The age range was 16 – 55.
Monitoring of continuous blood glucose can be
Looking at their fertility 9 out of the 32 had
beneficial to identify periods of hypoglycaemia as
delayed menarche (almost all of these had been
over 20% of hypos are not noticed by the patient. born pre-1980 with late diagnosis and less than
optimal treatment). 17 out of the 32 had irregular
There has been an international study of GSD III
cycles and oligomenorrhea. 8 out of the 22 has
patients organized by Professor Schmidt and
polycystic ovaries (but not usually associated with
results are now available. This gives a massive
hormonal changes and subsequent infertility). All
bank of data regarding all type III parameters.
conceived within less than one year of trying.
There is an on-going study on Faroe Island where
There were also unplanned pregnancies confirmed.
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She then presented 4 case studies with an age
range of 21 – 35 all of whom whether they were
planned or unplanned had healthy babies. The
first trimester is the most critical. During this
time there is a higher risk of hypo’s and a higher
carbohydrate requirement. Hypoglycaemia can
also occur during the last month. Adenoma and
increase in size and new adenoma’s can develop
during pregnancy. Natural delivery is possible.
The patient will always need an intravenous
glucose drip during labour. Breast feeding is
possible although some patients will be on
Allopurinol, for instance, which could be
prohibitive and there is an increased calorie
requirement.
Personal Experience by Mrs Michelle Ross
Mrs Ross presented on her 12th wedding
anniversary with the details of her 2 pregnancies.
During her pregnancies the medical teams that
managed her pregnancy had very little
experience. She described that this was a new
journey for both the metabolic physician and the
obstetrician. The pregnancies themselves though
were uncomplicated and she has two healthy
children who are fit and well.
HEPATIC ADENOMAS—AN UPDATE
Professor Peter Smit,
Beatrix Children’s
Hospital, Groningen, The Netherlands
Groningen Hospital sees 100 GSD patients:
50% I a 25% Ib
25% III
Children’s check up
Internal admission once a year . Outpatient
appointment once every 4 to 6 months
Adult check up
Alternate internal admission with outpatients
once a year. Internal admission takes 4 days and
keytones, lactose, abdominal ultrasound, bone
density, cardiac evaluation and muscle evaluation
are measured.
Treatment of Adenomas
Adenomas may increase and also grow as the
patient gets older, It is important to keep uric
acid, lactate and lipid levels as normal as possible
At Groningen all adenoma samples are sent to
Paris for investigation as they have the facilities
to see why they are growing.
Elevated Glucose 6 phosphate levels which occur
in Type I patients can stimulate genes which
make lipids and triglycerides. If they are elevated
in an adenoma there is a strong anabolic factor
which makes cells divide and grow.
Adult patients are seen once a year at Groningen
and more often if they have an adenoma,
especially if it is growing.
An adenoma more than 5cm will be removed in
a female patient. There are several methods to
remove adenomas, depending on the severity of
the adenoma and the health of the patient
LIVER TRANSPLANTATION
Dr Patrick MacKiernan, Birmingham Children's
Hospital
Complications in liver transplantations are much
less than 20 years ago, Aftercare has greatly
improved and patients are monitored 4 times a
year. Children have a biopsy every 5 years.
Liver transplants are very rarely undertaken in
GSD Type I patients. Of the 6oo children who
have had transplants 20% had a metabolic disease
and only 3 had GSD. Of the 3000 adults only 2
had GSD
It is very much easier to carry out a transplant if
the disease is confined to the liver which is
usually the case in GSD I.
Replacement organs come from within the family
and are usually partial livers donated by a parent.
www.agsd.org.uk
Benefits and Support &
Statement of Special
Educational Needs
David Moore-Crouch, Campaigns,
Advocacy and Information Officer,
Muscular Dystrophy Campaign
11
than having a presentation because they could
all focus on the main concerns of those present;
in particular Statementing and social care
packages. The discussion was so helpful to
those attending that the session ran on to 45
minutes.
I have a copy of David’s presentation that he
later sent to those who requested it; if you
would like a copy please contact me and I’ll
David planned to hold a combined workshop to
send it by return (preferably as an email
answer questions on two topics:
attachment).
1) Benefits and support which covered:
Allan Muir
 Disability Living Allowance and the move to
Personal Independent Payments
 Employment Support Allowance
 Care packages
 Statement of Special Educational Needs and
the what the future holds
2) Statements of Educational Needs:
 A statement of special educational needs is a
Notes on Disability Living Allowance
(DLA) by Sue Del Mar
If you qualify for DLA it is not means tested.
There are two elements of DLA :
legal document that sets out your child's
special educational needs as assessed by your
Local Education Authority.
 It sets out the provision that the authority
e.g. NG tubes, feeds
High/Medium/Low
2. Mobility
Ability to walk
High/Low
Department of Work and Pensions gives a
description of Personal Care degrees
feels your child needs. This may include the
name or type of school or facility that will
provide the right support.
 The aim of the statement is to ensure your
Children under that age of 3 months do not
qualify for DLA, but once child reaches 3
months old you may then make a claim.
child gets the right kind of help to enable him
or her to make progress at school. Basically,
it's a way of getting your child appropriate
help and making things as easy as possible for
both your child and the school or nursery
they attend.
However David dispensed with his prepared
presentations and the workshop was spent
discussing individual family’s issues. David said
afterwards that this format worked far better
1 Personal Care
DLA can be paid for different lengths of time.
Very unusual for life, usually 1,2 or 3 years.
Circumstances change when a child reaches 16
years.
DLA FORMS
1. If you fill in a form on line it must be done
within 3 days.
2. Remember the person at the DLA office does
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not know you so the more information,
statements and supporting letters you provide
the better.
3. If you are a carer, the care you provide can
seem normal to you and you do not realise how
much you do so keep a diary which you can send
as supporting evidence
4. When filling in a form always give the worst
scenario.
TRIBUNALS
If you are refused DLA do not give up. You must
always appeal and go a tribunal. It normally takes
a long time to get a tribunal but often they
contact you just before it takes place and grant
your appeal. This means that they have read the
information that you have given them.
Notes on the Hepatic
Workshop for Young People
aged 10 - 16 years
sugars and he explained how to monitor and
maintain an optimum or “normal” blood sugar
level to avoid “hypos” and minimise
hospitalization .
 Dr Paul Gissen, Hon. Consultant in Paediatric
The medical team described how to use
“Hypostop” and Maxijoule in an emergency or
exercise situation such as in school, an exam or
when socialising.
Metabolic Diseases, GOSH
 Elaine Salmons, Clinical Nurse Specialist,
Birmingham Children's Hospital
 Mel McSweeney, Senior nurse, General
metabolic and MCADD clinic, GOSH
EXPLAINING GSD by Dr. Paul Gissen
 What is Glycogen? What is DNA and WHY
do I have a GSD?
 What happens to my blood when it goes to
the Lab?? Elaine Salmons
 Self Management by Mel McSweeney,
 Using Glucose Monitors, pumps and Tubes
There were 5 children present plus two parents
and AP* was welcomed by Dr. Gissen as
honorary child by virtue of being past 75!
The purpose of this session was to encourage
the children and their parents to begin the
process of becoming independent adults
responsible for their own care, monitoring and
living a full and productive life.
Dr. Gissen began by asking “Why do I have
GSD?” He then gave a description of the
glycogen molecule, its purpose in maintaining a
healthy body, how glucose-6-phophotase enzyme
works to maintain a healthy body. The protein
controls the effects of too high or too low blood
The biggest question for independent living is:
“What do you feel like if your blood sugar is low
or dropping and what should you do?”
This lead to a further discussion of the practical
measures on what a GSD-affected person needs
to do to maintain a healthy and productive life,
starting from when they wake up to going to
sleep with a tube feed (either nasogastric or
gastronomy) cleaning and maintaining these
things, How to monitor blood sugars using a
finger prick and BS sticks. Dietary supplements
using cornstarch and/or high glycaemic foods.
Mel McSweeney encouraged the children on
how to do a finger prick and use the glucose
level sticks etc. and gave each child a blue or
black backpack to carry their bits and pieces
when at school, on an overnight stay or when
attempting to climb Mt. Everest!! (AP got one as
well!!)
*Ann Phillips, Trustee
www.agsd.org.uk
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14
Aids to Daily Living
by Sam Murduck
This workshop was facilitated by Sam
Murduck and Annabel Dennis. Sam is an
Occupational Therapist and Annabel is a
Cognitive Behavioural Therapist. Each
has a diagnosis of Pompe disease.
The aim of the workshop was to share ideas
about the aids and adaptations that people have
found useful in helping them to manage both the
physical and mental challenges of having a GSD.
We spoke about how living with a GSD can
impact on someone’s ability to take part in daily
activities that they value and enjoy. Being unable
to do the things you want and need to do can
lead to social isolation, poor self-esteem,
further ill health and loss of skills. Making
changes and adaptations to your environment,
lifestyle and way of thinking, can help to
increase independence, reduce reliance on
others, decrease pain, improve safety, reduce
fatigue, increase confidence and leave you with
Sam and Annabel’s double act
Healthy Balance
more energy to do the things that are
important to you.
People in the workshop had different physical
limitations but many had found pieces of
equipment that were useful in helping them
with daily activities. These included a stair lift,
stair rails, bathing cushion, bath board, grabber,
long handed sponge, perching stool, bed lever
and a rise and recline chair. Some people had
found that having their bed and chair raised
made getting up much easier. People spoke
about how arranging their home to suit their
needs was important i.e. having a fridge or oven
that was high up so they didn’t need to bend. A
number of people used mobility aids such as
walking sticks, wheelchairs, hiking poles, and
walking frames. The Radar key scheme is
excellent to access disabled toilets.
With regards to mental and emotional
adaptations many people felt that accepting help
from others was important although it can be
difficult to do this at times. The group felt that
educating others to understand the illness was
www.agsd.org.uk
valuable, as was being assertive about what you
need. Getting involved in hobbies was discussed
as a good way of keeping both your mind and
body active. The group felt that pacing activities
and working out ways to conserve energy was
helpful and that people should be kind to
themselves. We discussed addressing and
adjusting personal standards and habits, such as
deciding that cleaning less often was more
acceptable than being exhausted by cleaning
every day. We spoke about mindfulness based
cognitive therapy which is a great tool to help
identify and be aware of our reactions to
certain thoughts and feelings. The research is
very strong in helping with people prone to
relapsing in depression and some people in the
workshop spoke about how feeling low,
depressed and in pain had been part of their
experience with GSD.
Being the last workshop of the day we didn’t
have time to discuss as much as we wanted to,
however we talked briefly and gave a hand-out
about how to get extra help or equipment.
Everyone is entitled to an assessment of their
needs, and can self-refer to their local Adult or
Children’s Services at their local council for an
15
occupational therapy assessment. Carers are
also entitled to an assessment of their needs.
Mindfulness based cognitive therapy or other
psychological therapies or counselling can be
accessed via a GP referral depending on what
services are available in your local area. Some
areas have Independent Living Centres to try
out equipment and get advice. There are many
useful self-help resources available online and
many charities are very knowledgeable and
helpful. REMAP is a wonderful charity that will
make custom pieces of equipment for people.
Most towns have a mobility/disability equipment
shop that can offer advice and suggest
equipment for individuals. The Disabled Living
Foundation is a national charity that provides
impartial advice, information and training on
daily living aids. It has a brilliant collection of
factsheets that help people when choosing
equipment.
As a last note, probably one of the best sources
of advice and ideas is other GSD patients! So
stay in touch with one another, make good use
of GSDnet, link up on the Facebook pages and
use the support offered by AGSD-UK to
network and seek new information.
Having GSD affects people in many different ways. It can impact on your ability to
participate in those activities you want and need to do.
Participation is about being able to take part in:
 Personal activities of daily living
 Activities related to your role within your family or social group
 Activities within your local environment
Lack of participation can lead to social exclusion, further ill health, reduced selfesteem and loss of skills.
It’s essential for your physical and mental wellbeing to minimise the effect this has
on your life.
16
Pompe Workshop reports
Physiotherapy Workshop
Notes taken by Stephen Dando,
National Hospital, London.
this service.
 Patients who have been prescribed personal
exercise programmes have found them most
beneficial and feel it is a good idea to offer
this service to everyone.
Negative
 Physiotherapists in local services lack the
knowledge and understanding of the disease
and generally don’t provide the same level of
service received at the specialist centres.
 Physiotherapy input is not frequent enough
and does not continue for a long enough
period of time.
 Can be difficult to access physiotherapy
locally.
Delegates were divided into three small
groups so that those living with Pompe
disease could talk about their experiences
in a relaxed atmosphere. These are notes
from one such workgroup.
 Physiotherapy approach is too standardised
Question 1 – What are your experiences of
physiotherapy?
 Easy to access specialist services but
Positive
 Hydrotherapy is a good way of exercising
but does not necessarily suit those with
respiratory difficulties.
 Recumbent exercise bike is most practical
way of doing exercise due to ease of
transferring onto and off the seat.
 Generally patients appreciated the sense of
achievement gained from participating in
regular exercise.
 Physiotherapy input at specialist centres is
very good and patients were satisfied with
locally and patients are not getting the
specialist input/advice they feel they need.
Question2 – How easy is it to access
physiotherapy services?
experiences of accessing local services is
mixed. Very much depends on area.
 Requires referral from GP and which can be
a lengthy process.
Question 3 – What are the challenges of
exercise in Pompe?
 Tiredness and fatigue main factors agreed by
everyone.
 Accommodating exercise into an already
busy daily routine.
 Accessing suitable environments in which to
exercise. Many patients accessing their local
www.agsd.org.uk
Team GSD
17
Could you or a friend raise £500 for the GSD Giant? Join Team GSD
now and we’ll arrange shirts, sponsors and accommodation.
See back page for details
swimming pool, a few using the gym.
 Lack of guidance regarding what exercise
modality is beneficial, what intensity and
frequency.
 Limited options for the more severely
affected patients.
Question 4 – Do you participate in regular
exercise?
 Participation in exercise split half and half
between the group depending very much on
employment, family commitments and impact
of disease.
 Types of exercise being performed include –
vibration plates, toning tables, swimming,
hydrotherapy, aqua-aerobics, cycling, light
weights, treadmill walking, yoga and Pilates
 The small number of patients having good
access to services and good support were
exercising on a more regular basis.
Question 5 - How would you like to see the
service improve?




Long-term support
Improved guidance on exercise
Specialist training for local physiotherapists
Greater flexibility in the service and
treatment options
 Improve the network between professionals
and patients
 Greater levels of supervision
 Support with falling strategies
 Providing all patients with personal exercise
programmes
 Linking in with local gym services
 Opportunity to attend exercise groups with
other patients or patients with similar issues.
18
Pompe Late-onset Workshop on
Ventilation
Report by Dr. Shyam Madathil
Consultant Physician in Respiratory Medicine at Queen
Elizabeth Hospital Birmingham.
The Pompe workshop was again divided into several small,
intimate discussion groups to discuss issues around assisted
ventilation. This report is from the group led by Dr. Shyam
Madathil.
There were 3 users of nocturnal NIV (non-invasive
ventilation), all were very happy with the treatment and
were using it regularly. A number of observations and
questions arose from our discussions:
One person was put on an NIV machine for respiratory
weakness before Pompe was diagnosed.
Dr. Shyam Madathil leads a respiratory
workgroup
Q. I’ve had episodes of nose bleeds in the past, what might help to avoid these?
A. A humidifier use may help prevent nasal mucosa drying up.
Q. What do you suggest I do when I have a runny nose or a cold when using NIV?
A. Short term use of a decongestant and, if severe, temporary use of an oral mask.
Q What can you suggest I do about the noise from my NIV machine?
A. Newer machines were demonstrated in the workshop that were much quieter.
Q. How often should I cleaning and replace masks?
A. Wash masks with a moist cloth/ tissue every night and clean with mild soapy water once a
week. Masks often last up to a year but this would vary partly depending on individual skin types.
Q. Would it be possible to survive without the NIV machine for a night?
A. Although it is best to use NIV every night, most people would tolerate a night off in an
emergency. But those with more severe respiratory weakness may be dependant on daily use.
Q. How can I avoid chest infections?
A. Due to muscle weakness and poor expectoration of secretions, infections are unfortunately
common in this group of patients. If there is coloured phlegm with fever or increasing
breathlessness, most cases will need prompt treatment with antibiotics.
www.agsd.org.uk
19
Pompe Paediatric Workshop
This conference was the first where we arranged for a
completely separate workshops for families caring for
Pompe infants and children. We had an excellent range of
speakers and topics but sadly very few families were able
to attend. However families who could join the meeting
seemed to enjoy an impressive number of presentations
and discussion groups.
Topics explored were:
Simon Heales and Katie Harvey discuss Hex-4
Physiotherapy
Michelle Woods, Specialist Physiotherapist,
Great Ormond Street Hospital
Statements of Educational Needs
Satnam Chahal, Metabolic Support Worker
Applying for disability allowances
Satnam Chahal
Children's Hospice Services as respite care
Neil Williamson, Transition Service Coordinator
Richard House Children's Hospice
Cardiac response to treatment
Alex Bloomfield
Long Term Issues in Infantile Survivors
Stephanie Austin, Genetic counsellor
Duke University Medical Centre, USA
Antibody response to ERT
Dr Simon Jones, Metabolic Medicine Consultant
Manchester Children's Hospital
HEX-4 as a biomarker for monitoring the
therapeutic response to ERT
Prof Simon Heales, Dr Katie Harvey
Gene therapy and diaphragm pacing strategies
Dr Barbara Smith
University of Florida
20
A new NHS leaflet explains non-invasive ventilation
to children
www.agsd.org.uk
Use the contact details below for the Southwest Neuromuscular Network to
order your copy. Alternatively email Allan Muir at the AGSD-UK office, he will
send you an electronic copy in PDF format.
21
22
International Symposium on Hepatic GSD
4th to 6th April 2012, University Claude Bernard, Lyon, France
Report by Sue Del Mar
with a welcome from Dr Gilles Mithieux from
INSERM (Institut national de la santé et de la
This symposium was the brainchild of Philip
recherché medicale) who were one of the
Maes the president of the AFG (the French
sponsors of the event. There were several
GSD Association), it follows the first such
meeting which took place in Spain in 2011 and lectures of a more general nature in the
it is due to the success of that meeting that the afternoon and then the GSD Associations
presidents or representatives met and the
meeting in Lyon took place.
following were discussed:
It provided an excellent opportunity for
1. How to attract more students and
specialists in the Hepatic GSD’s to meet,
discuss and exchange ideas on a wide range of doctorants to insure research for GSD in the
aspects of research into GSD in which they are future.
experts.
Perhaps each association could help a limited
The Symposium also serves another purpose as number of students with a subsidy say £100
and an extra £50 if they present a poster.
Presidents of the various GSD patient
organisations from around the world are also
invited. They have the opportunity to
communicate not only with each other but also
with the various specialists who are present.
Due to the rarity of the hepatic GSD disorders
the more cooperation and collaboration that
can take place between the patient
organisations and the specialists the more
beneficial it will be for the patients.
There were over eighty participants with the
bulk of doctors and specialists came from
France but there was representation from
twelve countries around the world and eight
countries had sent representatives from their
patient organisations.
Such a conference not only promotes new
ideas that can be shared and discussed but also
the opportunity for old acquaintances to be
renewed and new ones to be made which is in
itself very valuable.
The symposium began after lunch on 4th April
2. The next symposium will be in Heidleberg in
2013. The venue for a 2015 event was raised
and possible venues were Spain and the UK
3. Establishing more interaction between
organisations on subjects such as shared
medical research, social security, insurance
approval,
4. Exchanges between families of young
persons with GSD. If this is possible what are
the risks involved and how can they be
overcome.
5. International multilingual information card.
Associations will produce one in their own
language to Uta Stachelhaus Theimer of the
German GSD association who will cooordinate their production.
6. Starting new associations: Poland and Russia
have fledgling organisations. Monika Damska
had come from Poland, courtesy of a grant
from her university. Sadly the Russian
representative was unable to attend.
www.agsd.org.uk
23
The morning of Thursday 5th April was devoted
to new approaches on kidney, intestine, bone
and muscle in GSD with some oral
communications such as Glycogenin-1 deficiency
and neuromuscular alterations in GSDI and
GSDIII
gene therapy. She has been involved with
research into GSD using mice for many years.
In the afternoon liver metabolism was discussed
plus some oral communications such as insulin
resistance and diabetes, LXR deficiency and an
interesting survey that showed that carriers of
some GSDs could show symptoms of the
disease but only in a mild form.
The final session was devoted to liver tumours
in both GSDI and GSDIII
The morning of 6th April began with Janice
Chou of Bethesda giving the plenary lecture on
the path of Ia and Ib mice from the disease to
This was followed by a session on gene therapy
and included an uplifting talk by Amit Nathwani
from London on the highly successful use of
gene therapy using vectors for Haemophilia B.
There should soon be a DVD of the
presentations but in the mean time, if you would
like more details of a particular presentation
then please email Sue Del Mar
( type1@agsd.org.uk) and she will put you in
touch with the presenter.
McArdle's Downhill Walking Course
13 to 20 July 2013
For the first time we are focussing on
DOWNHILL and LEVEL walking - so opening it
up to McArdle people who are just starting
walking in the countryside. There is a guarantee
of a downhill or level walk every day. Routes
include canal towpaths, disused railway lines,
lake and river sides, estuaries, the coast and
valleys amongst the splendid scenery of north
Wales. As usual there will be plenty of opt-out
points and a support driver.
On many days we will also offer an alternative
walk for those who want the challenge of a high
level walk with a group who share and
understand your muscle issues.
Now in its third year, previous participants from
10 countries have gained from being with a
group of McArdle people - learning from each
other, sharing past experiences, swapping tips
and enjoying the countryside.
Accommodation is in a converted farm house
with single en-suite rooms. So if the previous
bunk house accommodation has put you off,
now is your chance.
The course will be led by Andrew Wakelin and
Stacey Reason, organised by AGSD-UK but
open to all. 12 places are available. Full details
will be announced shortly, but to register an
interest now please email type5@agsd.org.uk
24
Meet Rocco, GSD IV
www.SupportRocco.co.uk
Hello. My name is Rocco.
I am 2 and a half years old and I live in Stoke
Poges in Bucks in England. I can’t write yet, so
my mummy has written down these words to
ask you to help me. Please can you read them?
I am a little bit poorly. I have been diagnosed
with Intestinal Failure which is a very rare type
of illness. I don’t know what it means either, but
I know that I am fed by something mummy and
daddy call ‘Total Parental Nutrition’ (TPN)
because I am not able to eat or drink anything
at all. It’s not nice. In fact, it means that I am fed
directly through the heart. I told you it wasn't
nice. It also means that, wherever I am, there
HAS to be a fully-trained TPN person with me
all day, every day. It's called 24/7, and this
makes family time really hard to come by, and
that time is very, very special to me.
Having to have mummy, daddy or the nurse
with me all the time means that my hospice
stays and the nice hospice people who come to
us to help us out is really important. Hospice
people like the nurses from the Iain Rennie
Pepper Children's Hospice. They come to be
with me when daddy is working and mummy
needs to have a rest.
I love to stay at Helen & Douglas House, which
is a hospice for sick children where I am able to
spend some really nice time with my family and
we are all able to have a rest. We all get really
tired sometimes. We also visit Bluebells which
enables us to have a holiday together.
I also have GSD Type-IV (4) Glycogen Storage
Disease; It is a very rare, genetic disease of the
liver which can make my life really short and
right now there is no definite cure, and that’s
not a good thing for me.
And there’s another thing! I have hyper
mobility, which makes my joints jump out of
themselves. Mummy calls it dislocations. Oh, I
almost forgot, I have a growth hormone
deficiency which affects my sugar levels, so my
mummy has to inject me with some growth
hormones daily.
www.agsd.org.uk
My doctors have told my mummy and daddy
that I have "Very Complex Needs". My mummy
looks after me full time whilst my daddy works.
Having immunity deficiency means that I have to
stay indoors at home to avoid infections, but I
am very lucky because I have my sister Olivia
who is 6 and she plays with me all of the time.
I'm not allowed to go outside. I like the outside.
25
Olivia, and me find the things I need. If that’s
OK by you?
Please can you help me to raise funds for my
future care. My parents have vowed to raise the
money needed to find a cure for me because
they love me a lot.
Rocco
Mummy and Daddy say that the people who
help me are really, really lovely, and that they
need to find things to make me better but they p.s. I am now connected 24/7 on TPN dextrose
can’t find them. So I wondered if I could ask you fluids to help maintain my hypo's.
to help the lovely people, mummy and daddy,
GSD IV, also known as Andersen disease or brancher enzyme deficiency.
Several neuromuscular variants of Andersen disease have been described. These may be evident
at birth, in late childhood, or adulthood. Andersen disease is inherited in an autosomal recessive
fashion.
Deficient activity of the glycogen-branching enzyme is the cause of GSD Type IV. It results in
accumulation of abnormal glycogen in the liver, muscle and other tissues. In the perinatal variant
usually symptoms become apparent in the first few months of a baby's life. Such signs typically
include failure to thrive - slow growth and failure to gain weight at the expected rate. There may
be an abnormally enlarged liver and spleen. There is typically progressive liver scarring and liver
failure, leading to life-threatening complications, but in some rare cases progressive liver disease
does not develop.
GSD IV is a very severe but rare disorder. No treatment apart from liver transplantation has been
found to prevent progression of the disease. Most children with this condition die before two
years of age.
Patients with adult polyglucosan body disease (APBD) have deficient glycogen-branching enzyme
activity, diffuse CNS and peripheral nervous system dysfunction.
Source: www.AGSD..org.uk
26
Sell an item on eBay to support the
AGSD-UK
The AGSD-UK is now registered with eBay (through Mission Fish) allowing anyone to support us
by creating an eBay listing. You can donate between 10% and 100% of the sale price of your listed
article and you'll get a fee credit on your eBay listing fees. Your donation will be collected
automatically 3 weeks after your item sells and paid directly into the AGSD-UK bank account.
To start selling on eBay for the AGSD-UK follow this procedure:
1.
2.
3.
4.
5.
Go to www.eBay.co.uk
Select “Sell for Charity” on the Sell menu at the top of the page
Select “Browse for Charities” in the Charities box on the right hand side
Search using the keyword ‘agsd’
Select the “Sell an item” button.
Team GSD
Could you or a friend raise £500 for the GSD Giant? Join Team GSD
now and we’ll arrange shirts, sponsors and accommodation.
www.agsd.org.uk
27
BESSES O’ TH’ BARN BAND
SALE SALVATION ARMY SONGSTERS
On Saturday 4th November a musical charity
concert in aid of AGSD-UK was hosted by the
Salvation Army at Sale (Cheshire) to raise funds
for the AGSD-UK. The event was arranged by
Brian Topping, a long standing friend of Malcolm
Knightley who was diagnosed with Pompe a few
years ago.
When Brian learned from Malcolm about living
with a rare disease such as GSD he determined
to raise funds for the Association. Our thanks
go to him for a thoughtful and meticulously
organized event.
The concert showcased the musical talents of
the 'Besses of the Barn' brass band and the Sale
Salvation Army choir. The guest soloist was
Gary Curtin (euphonium) and the concert was
compered by Rachel Townsend, a Granada ITV
news presenter.
Entitled ‘A Celebration in Music’, the evening
proved to be more than that. GSD sufferer Rob
Wood shared his personal ‘GSD story’ which,
together with a video clip of young sufferers and
the care they were receiving from family and
specialists, combined to be a moving and
Brian
and
Malcolm
Rachel Townsend
inspirational celebration of the human spirit.
The audience enjoyed very high standards of
musical proficiency from the band and the choir.
It wasn’t necessary to be a music expert to
appreciate the quality!
Guest soloist, Gary Curtin, held the audience
spellbound with a stunning virtuoso quality
performance on the euphonium.
Rachel Townsend was an engaging and
knowledgeable compere who had clearly taken
the plight of GSD sufferers to heart. The week
prior to the concert Rachel had compiled a
feature for the local ITV news focusing on a local
teenager from Bolton living with Pompe.
During the concert Allan Muir explained the
work of the Association and how it provides
support to those in the GSD community.
A collection taken during the evening raised the
magnificent sum of £1124 and the cheque was
presented to Ann Phillips for the work of AGSDUK.
Malcolm Knightley
Gary Curtin
Robert Wood
28
Exercise in late-onset Pompe disease
Stephen Dando, National Hospital, London
Recent evidence has shown that individually
prescribed exercise programmes can prove
beneficial in maintaining the function of patients
with late-onset Pompe disease. Studies have
explored the effect of a number of exercise
modalities on muscle strength and they found
that by adhering to set principles, Pompe patients
are able to exercise safely and make modest
improvements in strength and walking speed. It
should be noted at this point that due to the
progressive nature of Pompe disease,
maintenance of symptoms should be considered
a positive outcome of treatment, so modest
improvements in physical abilities is encouraging
news for patients and therapist alike.
The set principles which are essential when
undertaking physical training in Pompe relate to
the management of fatigue and the prevention of
further tissue damage. Fatigue is a major feature
associated with Pompe disease and it is important
that exercise programmes are designed to limit
the disabling effects of fatigue so as not to impact
upon activities of daily living. When exercising at
a high intensity it is common for muscle tissue to
be damaged, this process is essential in
developing greater strength and muscle bulk
however this level of exercise is not
recommended in Pompe disease.
Exercises should be performed sub-maximally (60
-70% of capacity) – in Pompe disease your
muscles will experience fatigue much earlier than
normal. As a consequence you should not work
to levels of fatigue and instead work to a level
which is comfortable but could be defined as
somewhat hard.
Rests should be self induced – when exercising
you are the only person who can determine how
tired you feel. Therefore, if you feel that you are
at 70% of your maximum capacity – stop and rest
for a few minutes.
1 – 2 minute rest between each exercise – to
allow your body time to recover and ensure that
you get the most out of your exercise routine
you should allow sufficient time for your body to
recover after each set of exercises.
Your exercise programme should be individually
prescribed to meet your needs and should result
from a comprehensive assessment of your muscle
strength and functional abilities. This assessment
should be performed by a physiotherapist who
should then continue to monitor your progress.
It is important that your technique is monitored
closely as muscle weakness in Pompe disease
often predisposes individuals to adopt
compensatory methods when exercising. This is
not recommended and if left unchecked can lead
It is important that whether you are exercising at to muscle strains and the development of joint
home or in the gym you remember to follow the aches and pains.
principles of exercise in Pompe disease:
At present more research is needed to establish
Exercise should be performed little and often.
which exercise modalities are most effective in
Your programme should fit in with your lifestyle Pompe disease but current treatment options
and you should not attempt to perform too many include low-intensity strength exercises, aerobic
exercises which focus on a range of muscles in
exercise (such as cycling or treadmill activities),
one session. You should be aiming to exercise
vibration therapy, hydrotherapy (not
three times a week with a rest day in-between.
recommended if dependent on ventilation) and
www.agsd.org.uk
29
high protein diet in conjunction with exercise.
Which type of exercise is best suited to meet
your needs depends upon your home
environment, availability and access to local
facilities and the support available at such
facilities. Your physiotherapist should be able to
support you in accessing appropriate
environments in which to exercise.
risks and principles. At present our
recommendations are very much guided by the
limited research available and studies from similar
diseases in neuromuscular medicine.
As research continues to explore the role of
exercise in Pompe disease we will begin to
understand more about the potential benefits,
Ed Silk:
If you have any questions regarding exercise in
late-onset Pompe disease then please contact
either Ed or Steve:
Manchester
Edward.Silk@srft.nhs.uk
London
Stephen Dando:
Stephen.dando@uclh.nhs.uk.
Bolton lad features on Granada Reports
Below is the introduction and link to the news report by Rachel Townsend (see p.27) on ITV's
Granada Reports. It refers to Ismail who, as a baby, was enrolled into an early trial of Enzyme
Replacement Therapy for Pompe disease that took place in Essen, Germany in 2000. Due to a family
tragedy Ismail and his mother came back to England where an ERT trial centre was quickly
established at Manchester Children's Hospital with Professor Ed Wraith as the principle investigator
and Joan Fletcher as the lead trials nurse. Ismail is now a happy lad, enjoying life and particularly
mathematics and wheelchair football.
You can watch the full news report online on Vimeo at http://vimeo.com/51609991
BOY FROM BOLTON SURVIVES RARE GENETIC CONDITION
Bolton boy with rare genetic condition amazes doctors.
A boy from Bolton is one of the first children in the world to survive a rare condition that causes
heart and muscle failure. Ismail Patel's parents were warned their son may never reach his first
birthday after he was diagnosed with a genetic condition called Pompe disease. But now he is 12 and
enjoying mainstream school. The condition means his body doesn't produce the enzymes necessary
to break down glycogen and glucose,
leading to heart and muscle failure.
Fifteen years ago, he would have died
from the disease. Now he is one of the
first children to survive it. You can find
out more about the Association for
Glycogen Storage Disease - the charity
which works with people who suffer
from Pompe disease - on their website
(www.agsd.org.uk).
30
New National Homecare Specification For LSD
Service
Tanya Collin-Histed, Gaucher Association
As part of the national specialised service for
lysosomal storage disorders, patients with an
LSD are able to receive care that allows them
to receive their fortnightly infusion in their own
home. This set up was managed through each
of the eight hospital trusts having their own
contract with one or two homecare companies.
In 2011, the National Specialised
Commissioning Team (NSCT) who manage the
specialised service for LSDs in England
announced that they intended to develop one
single homecare contract for the service which
would be managed centrally by the Department
of Health’s Commercial Medicines Unit (CMU).
The rationale behind this decision was to a)
introduce new companies into the market and
b) drive up the quality of service to patients.
Tanya Collin-Histed, the Association’s Chief
Executive, was invited to sit on the national
project team for the development of the
national homecare tender on behalf of the UK
LSD Patient Collaborative. Over the past
twelve months the project team met monthly
to develop the tender and worked closely with
representatives from each of the eight LSD
centres.
the service specification were awarded a place
on the new framework and are now eligible to
work with the eight LSD centres to deliver
homecare to their patients. The four companies
are Bupa, Central, Healthcare at Home and
Medco. The individual LSD centres will now
work with the homecare companies to deliver
homecare to their patients.
The AGSD-UK would like to reassure their
members that any changes to their homecare
service will be in full consultation with their
treating centre and a period of notice will be
given.
Going forward, if patients and their families feel
that they are not happy with the level of service
they are receiving through their homecare
provider, it is essential to report this either to
their treating centre or to the AGSD-UK. It is
only through raising awareness of issues that
these services will improve.
PATIENT CHARTER
As part of the national homecare specification,
the UK LSD Patient Collaborative Group
developed a ‘Patient Charter’ which is an
integral part of the tender documentation and
outlines what you as the customer can expect
from your homecare provider. A full copy of
the charter can be download from the
Gauchers Association website at
www.gaucher.org.uk.
Companies interested in delivering the service
were invited to tender for the contract and
their bids were adjudicated by representatives
from the NSCT, the Commercial Medicines
Unit, Patient Group representatives and
clinicians and nurse specialists from the eight
Practical examples of the standards we have set
LSD centres. The successful companies that
met the demanding levels of quality required by out in the Patient Charter include:
www.agsd.org.uk
NURSING STANDARDS
Each patient will be assigned a named nurse as
principal contact. In the event of his/her
absence, through leave or illness, another local
regional nurse will be introduced
Nurses should be dressed smartly; they should
wear uniforms of smart trousers/skirt and polo
shirts/sweatshirts with a discreet company logo
on if required when visiting patients in their
homes
Nurses must carry photo identification badges
at all times
NURSING SERVICE STANDARDS FOR
SUPPORTING INDEPENDENT
PATIENTS
A nurse will undertake a home review at least
every six months
The patient’s named nurse will be responsible
for updating the patient file
The nurse will undertake a fridge inspection on
their six monthly home visits
The patient’s named nurse will ensure that any
new devices, procedures and products are
offered to the patient and appropriate training
is given
A 24/7 out-of-hours on-call nursing service will
be offered to all patients who are independent
HOME DELIVERY STANDARDS
 The driver will check that the fridge is
working to the appropriate temperature. In
the event that the patient and family refuse
entry to the property then the patient/family
must sign a form to say that they have
refused entry. Patients will be contacted by
their specialist centre in the event of the
driver being refused entry to the patient’s
home
 All drivers, if requested by the patient and
family, will offer to unpack the goods and
place them in the patient’s fridge. In addition,
they should check the current stock and
ensure stock rotation
 The driver will offer to remove all discarded
packaging for recycling
CUSTOMER SERVICE
 All Customer Services staff will conduct
business in a friendly, courteous and
professional manner at all times
 New patients will be contacted by a member
of Customer Services within one week of
registration by their LSD centre. This
telephone call will establish an approximate
order of requirements and detail a named
nurse who will contact the patient within
seven days
 Customer Services will agree a delivery
schedule and stores list with each patient. A
patient-held folder of essential information
will be provided to each patient on their first
delivery of product/stores. This will detail
contact names, addresses and telephone
numbers, and procedures to follow in the
event of any problems and will be crossreferenced with nursing for updating.
The new homecare contract commenced on
1st October 2012.
31
32
Effectiveness and associated costs
of Enzyme Replacement Therapy
Stuart Logan, Chief Investigator, NCS-LSD
In 2005, the Peninsula Medical School, in
collaboration with the Specialist Treatment
Centres for Lysosomal Storage Disorders in
England and the Lysosomal Storage Disorder
patient support groups, proposed to examine
the effectiveness and associated costs of Enzyme
Replacement Therapies for the treatment of
LSDs.
and would like to apologise sincerely to
everyone who either did not receive a report
and should have, or received a report in error.
We would now like to share our findings with
everyone in the Pompe community and the
AGSD-UK has been kind enough to help us
distribute the report by email. Meanwhile, if you
would like to receive a paper copy of this
The National Collaborative Study for Lysosomal report, please contact us by emailing
Storage Disorders (NCS-LSD) collected clinical NCSLSD@pms.ac.uk or calling 01392 262924.
and Quality of Life information over three years,
from consenting adults and children with Pompe
disease, Gaucher disease, Fabry disease, MPS I,
MPS II, and Niemann Pick disease type C. We
aimed to gain a better understanding of how
effective these treatments are and what the
associated costs are to society, and to the
families who live with these conditions.
The researchers have now completed their
report to the Health Technology Assessment
programme (HTA) who funded the study and
the full report is available on the HTA website
(http://www.hta.ac.uk/project/1538.asp).
Meanwhile, we aimed to provide every family
who participated in the study with a summary of
the results relating to their condition. However,
there were problems with the distribution of
the reports, and it appears that reports did not
reach every person who participated in our
study. Also, there were some people who
received a report who had not consented to
participate. The NCS-LSD Study Team is
extremely sorry for these unfortunate errors
If you would like a copy of this report,
either by email or in hard-copy please
contact Allan Muir at the AGSD-UK
office.
See page 39 for contact details.
www.agsd.org.uk
33
Lysosomal Storage Disorders – A Practical Guide
A new book called ‘Lysosomal Storage
Disorders – A Practical Guide’ jointly
edited by Professors Atul Mehta and
Bryan Winchester was published in
September 2012.
differences in the manifestation of these
conditions, they are closely connected not just
because they are genetically inherited. Patients
with these differing conditions are often seen at
the same centres, by the same clinicians and
their teams at the National Centres of
This book, bringing together the general aspects
Excellence. Scientists and clinical researchers
of Lysosomal Storage diseases and containing
use their experience of the mechanisms of one
chapters on the individual diseases as well as
condition when considering another, the same
therapy and patient issues, will prove to be a
companies have or are seeking to develop
much valued resource to all involved in the LSD
treatments for a number of these conditions
world. Containing contributions from world
and healthcare administrators link the
experts in both scientific research and the
management and funding for these treatments.
clinical management of the disease brings
The initiative to bring together in one book
together in one volume the up-to-date
descriptions of these conditions giving current,
understanding of the various conditions and the
expert and practical guidance is both timely
latest thinking on the management and
invaluable in their understanding and
treatment of patients.
management and is welcomed with gratitude by
The Chapter on Pompe disease was written by patients. This volume is a ‘must have’ for
Arnold Reuser and Ans van der Ploeg from the anybody who has any interest in LSDs’.
Erasmus Medical Centre, Rotterdam. The
Simply go to www.amazon.co.uk and type
chapter includes case histories, the natural
‘Lysosomal’ into the search bar at the top of the
history, diagnostic methods and treatment.
page. Scroll down and you will find the book in
The final chapter was written jointly by Alastair hardcopy or for Kindle download.
Kent Director of Genetic Alliance (UK),
Don’t forget to use “Give as you Live” when
Christine Lavery, the Chief Executive of the
making your Amazon purchase.
MPS Society and Gauchers Association founder
and past Chairman Jeremy Manuel and gives the
patient perspective on rare diseases both from
a UK and European standpoint.
A reception organised by the MPS Society to
mark the publication was held in in Central
London. Speaking at the launch, Jeremy Manuel
said ‘I congratulate Professors Mehta and
Winchester on this much needed publication
which will prove to be a vital tool for all those
involved with patients suffering from one of
these rare disorders. Although there are
34
Forthcoming fundraising events
Storm the Tower
Thursday 28th February 2013, 7pm -10pm
WWW for AGSD-UK
Its not too late to plan your "Winter Warm-up
Walk for AGSD-UK". It is a simple way of taking
part in a healthy activity as well as helping a
worthwhile cause at the same time. Just gather
together a group of family and friends, the more
the merrier, and undertake your own sponsored
walk in your local area.
You decide the route! The walk can be as long
or as short as you wish – it is entirely up to you.
Maybe just a stroll around the block where you
live, or a more challenging distance out in the
beautiful countryside – you decide. It can be just
your own family including the kids or maybe
gather together your neighbours and friends. A
great way to warm up for winter!
Parachute jumps
Usain Bolt runs the 100 meters in 9.58 seconds,
we are challenging you to do the tower run in
under 4 minutes. The difference? This sprint is
vertical, straight up the 530 steps of Spinnaker
Tower.
This tower run is tough by anyone’s standards.
Awards will be given for the following:





Fastest woman
Fastest man
Oldest competitor
Youngest competitor
Top charity fundraiser
Ever felt the need to jump out of a plane at
10,000 feet? Well we can help you do it!
Wherever you live we can arrange for you to
undertake a parachute jump at your nearest
airfield. What’s more, if you raise sufficient
sponsor money for AGSD-UK then you can have
your jump for free.
For more information about any of the above or other fundraising activities please
e-mail fundraising@agsd.org.uk or call Steve on 07990 900374
www.agsd.org.uk
35
GSD Giant (Details on the back page)
Saturday, August 10th 2013
You can see from Trishul’s newsletter report
below that the GSD Giant is manageable, but
tough, for people of many different abilities. But
do also remember that electric bikes are very
welcome and can be hired nearby.
We aim to attract two types of entrant for the
GSD Giant.: 1) Cyclists who simply want to
enjoy a challenging cycling event, and 2) cyclists
who will use the event to raise sponsorship for
the AGSD-UK. Within the second group we are
looking for a few special supporters to join a
team of elite fundraisers; Team GSD.
Members of Team GSD will pledge to raise
£500 for the AGSD-UK and will enjoy these and
other benefits:
 Team Jersey for training and on the day
 Pasta dinner on Friday evening
 One night B&B close to Goodwood
 Celebration dinner on Saturday evening
Team-members should sign up as
soon as possible so that we can order
shirts and book accommodation
Please contact Allan Muir for details.
School Report
On Sunday 23rd September, 2012, my parents
and I took part in a 44 mile charity bike ride
around the undulating hills of the South Downs.
The aim was to raise money for a charity close
to my heart, the Association for Glycogen
Storage Disease. It is close to my heart as I
suffer from this condition; so does my sister.
Basically I don’t have an enzyme that helps to
break down stored glycogen in my body for
energy, so I have no back-up supply of energy,
only the energy I get from the food and
medication I take. This affects my blood sugar
levels.
We trained for the ride as much as we could
incorporating as many hills as we could. This
made us fitter, or so we thought.
The course we cycled was described as having
some undulating hills, but there seemed to be an
endless amount of hills, we would just recover
from one to find the next hill just around the
corner. It took a lot of will power and plenty of
snacks to get through it. My main challenge was
to balance my sugar levels, with my intake of
food and the extra energy I was burning up very
quickly whilst riding. I stopped to have a snack
and drink every hour, to minimise a severe drop
in my blood sugar levels.
It took me 5 hours and 48 minutes to complete
the distance, my parents finished a few minutes
later. We raised an amazing £2500 between the
three of us; we intend to do the bike ride again
next year and hope to improve on our times by
training more intensely.
Trushal Pindolia (Class 8)
36
Marathon Walk
London, 13th & 14th April 2013 (2-day event)
Special
Offer
Sign up before the end of
January to get two places for
the price of one!
perfect way to do something worthwhile in memory of
my Dad and raise money for a good cause that he
supported as well. It’s a great walk – there are lovely
parts of London that you get to walk through
(although this always slows me down as I have to
stop to take photos!) and each time I discover
If you can’t take part yourself, why not
nominate a family member or friend to
represent you. You can then work as a
team to raise sponsorship.
something new in London that I've not seen before.”
The Marathon Walk is a great self-achievement
event to take part in; but don’t take our word for
it, read the story of someone who has taken part
3 years running! Joe loves the event so much that
she’s already signed up for year 4.
The 26 mile walk starts in Blackheath, heads east
through Charlton and Woolwich, and passes the
Cutty Sark in Greenwich. It crosses the Thames
at Tower Bridge and then loops around the east
end of London, past Canary Wharf in Docklands,
before heading west again along the Embankment
“I started doing the walk because of my Dad who
to Parliament Square, Birdcage Walk and the final
died in 2009. He & I used to often do sponsored
corner in front of Buckingham Palace.
walks together. So when the information about the
Marathon Walk came through I knew it was the
Entry fee: £30
Minimum sponsorship: £260
For more information about any of the above or other fundraising activities please
e-mail fundraising@agsd.org.uk or call Steve on 07990 900374
www.agsd.org.uk
37
News in brief
News of McArdle publications
The McArdle Disease Handbook has now sold
303 copies across 22 countries and is also now
available for fully searchable and browsable online access free of charge via Google Books.
The German GSD Association has now
reproduced a German translation of the
Handbook and French, Italian and Spanish
translations are in progress.
A new pocket sized book "101 tips for a good
life with McArdle Disease" is in preparation at
present. This is intended as a easy-access
introduction to the disease with many tips for
little things that can be done to make life easier
and avoid trouble.
Lastly, a book by Stacey Reason is in
preparation. It is an account of her battle with
the disease and her experience of the "Walk
over Wales" in 2010. It will also have a technical
section on walking safely with McArdle's and a
section on how the "Walk over Wales"
developed into the walking course we now run.
Online children’s storybook
This is a very short story book for young children with
any one of the liver GSDs.
Many thanks to the authors for permission to offer access
to this story.
Title by: Josiah Ridley (GSD)
Story by: Laurie Fiske
Illustrations by: Ivy Cohen (GSD)
The book is available to view or download from the GSD
Type III section of our website:
www.agsd.org.uk/tabid/2619/default.aspx
Abdulla Amerat appears on ITV London Tonight
20th December 2012
In an appeal on behalf of Richard House Hospice, Abdulla Amerat (age 7),
“a joyful cheeky survivor” together with his family explain why the hospice
is so important to them all.
See the recorded interview here on
Vimeo: https://vimeo.com/56992694
password: richardhouse
38
9 Nov 2012
Holy cow! Meet girl, 9, who has to drink
SIX pints of milk every day to stay alive
Steve White
She has Glycogen Storage Disease, a disorder affects just one in three million people, which
means she cannot convert food into energy.
A schoolgirl with a rare illness has to drink six
pints of milk a day just to stay alive.
Holly Lindley, nine, suffers from Glycogen
Storage Disease and cannot convert food she
eats into energy.
It means she has to sip milk mixed with five
spoonfuls of cornflour almost constantly or
she may fall into a coma.
The cornflour contains starch, which acts as a
slow release of energy during the night.
Mum Karen, 35, who has forked out almost
£2,000 on the white stuff in the past three years,
said: “We have to remind her it’s for her own
good.
"It would be easy if she drank fizzy drinks loaded
with sugar but she doesn’t like them.”
Holly was diagnosed aged two after collapsing at
her home in Doncaster, South Yorkshire.
The disorder affects just one in three million
people.
Team GSD
As Holly gets older and needs more energy, she
may have to drink even more milk each day.
Karen and husband Alan, 41, have to do blood
tests to check her energy levels. Holly, who has
two brothers, also snacks on chocolate between
meals.
Karen added: “I’m sure she’s the only pupil with
two choc bars in her lunch box.”
Could you or a friend raise £500 for the GSD Giant? If so please join
Team GSD now and we’ll arrange shirts, sponsors and accommodation.
www.agsd.org.uk
39
Contact Page
The AGSD-UK Ltd is managed by a Board of Trustees elected by its members at the AGM
held each year as part of our Annual Conference. The current members of the Board are
listed below. If you would like to volunteer to help the charity in any capacity please get in
touch with the Chairman or contact the office.
Board Members (Trustees)
Andrew Wakelin (Chairman)
Patrick Phillips (Deputy Chairman)
Sue Del Mar
Ann Phillips
Jayesh Pindolia
Mary Middleton
Michael Porter
chairman@agsd.org.uk
patrick.phillips@agsd.org.uk
type1@agsd.org.uk
ann.phillips@agsd.org.uk
jayesh.pindolia@agsd.org.uk
mary.middleton@agsd.org.uk
michael.porter@agsd.org.uk
AGSD-UK OFFICE
Development Director
Allan Muir
allan.muir@agsd.org.uk
Administrator
Wendy Griffiths
wendy.griffiths@agsd.org.uk
Old Hambledon Racecourse, Wallops Wood, Sheardley Lane, Droxford, Hampshire, SO32 3QY
Telephone 0300 123 2790 Office hours Monday to Thursday Or 0300 123 2799 Out of hours
Visit us online at www.agsd.org.uk and www.pompe.org.uk
Email info@agsd.org.uk
Pompe Family Support Nurse joan.fletcher@pompe.org.uk Telephone 0161 701 2601
Joan Fletcher is employed by the NHS under a grant from Genzyme Ltd to support our members
Fundraiser Steve Saunders
fundraising@agsd.org.uk
Newsletter Editor
Webmaster
Vacant
Telephone 07990 900374
Vacant
Volunteer Type Coordinators
Type I adults
Type 1children
Type II
Type III
Type IV
Type V
Type VII
Type IX
Sue Del Mar
Kate Beuve
Allan Muir
Esther James
Larissa Lowe
Andrew Wakelin
Marilyn Silver
Angie Shaw
type1@agsd.org.uk
katebeuve@btinternet.com
allan@pompe.org.uk
type3@agsd.org.uk
type4@agsd.org.uk
type5@agsd.org.uk
type7@agsd.org.uk
type9@agsd.org.uk
0300 123 2792
0300 123 2795
If you have any articles for the newsletter we are always very keen to hear from you
Team GSD
Could you raise £500? If so please join Team GSD now and we’ll arrange
shirts, sponsors and accommodation. www.gsdgiant.org.uk for details.

Glisten, January 2013 - AGSD | Association for Glycogen Storage

Transcription

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