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pompe
Living well with
Late-onset Pompe
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Li vi n g w e ll w it h P o m p e
What is Pompe?
Pompe is a very rare progressive muscle disorder that can
affect babies, children and adults. It is a genetically inherited
condition where the build-up of glycogen (a type of sugar, like
starch in a plant) causes damage to muscle fibres.
The genetic defect that causes Pompe is present at birth, although symptoms
may develop at any age.
Pompe is known to affect people throughout the world. It is a very rare
condition, occurring on average in 1 in 40,000 people. In the UK, there are
estimated to be only a few hundred cases.
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What causes Pompe?
Pompe occurs when a person has a genetic defect that affects the
levels of a certain enzyme, called acid alpha-glucosidase (GAA),
present in their body. GAA is important as it is needed to break down
glycogen, a form of sugar commonly found in muscle cells.
muscle fibre
myofibril
NORMAL MUSCLE FIBRE
Within a muscle cell, glycogen is found in
specialised regions called lysosomes
AFFECTED MUSCLE FIBRE
lysosome
In people with Pompe,
glycogen builds up within the
lysosomes as there is no GAA
or insufficient amounts of
GAA to break it down
glycogen builds up
glycogen begins to leak out
Glycogen begins to leak out of the
lysosomes, causing further damage
and muscle weakness
This build-up of glycogen causes the
lysosomes to expand in size, damaging
the muscle cell as they take up more
and more space
ch doctor Johannes Pompe,
Pompe disease is named after the Dut
ient in 1932. Other names
who first discovered it in an infant pat
ase type two (GSD II) and
for Pompe include glycogen storage dise
acid maltase deficiency.
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What are the different types of Pompe?
Pompe is broadly classified into two types, according
to when symptoms first appear.
Infantile-onset
Late-onset
(babies under one)
(childhood and adult)
Affected infants normally
show symptoms of Pompe
within the first few weeks or
months after birth. Typically,
symptoms include muscle
weakness, floppiness, poor
weight gain, cardiomyopathy
(weakened and enlarged heart)
and respiratory problems.
Late-onset Pompe occurs in
young children, teenagers or
adults. Symptoms can begin
emerging in babies as young
as one or in adults as old as
sixty. Symptom onset is very
individual and may depend on
a number of factors.
Infantile-onset is the most
severe form of Pompe as the
GAA enzyme is completely
missing or present in only
very small amounts. When
untreated, the disease can
progress rapidly and most
babies die within their first
year, often from heart or
breathing problems.
Late-onset Pompe is often
milder than the infantileonset form, as some GAA
enzyme activity is still present
(typically up to 40%). When
left untreated, the disease
is progressive, which means
it gets worse over time.
However, the speed of this
progression is very individual
and can be hard to predict.
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Who can get Pompe?
Pompe is a genetic disorder. Children can inherit Pompe if their
parents have the condition or are carriers for it.
We have two copies of every gene. A person
with Pompe has two abnormal copies of the
GAA gene. He/she will display symptoms
of the condition.
Inheritance scenarios –
Both parents
For each
have Pompe
and every
pregnancy, the disease
likelihood that a:
Child will have
Pompe
Child will be
a carrier
Child will be
unaffected
100%
0%
0%
A carrier is someone who has one normal
gene and one abnormal gene. Carriers do
not display any symptoms.
Pompe disease can be inherited in a number of ways:
One parent
has Pompe
disease, one
is unaffected
0%
100%
0%
One parent has Both parents
Pompe disease, are carriers
the other is
a carrier
50%
50%
0%
25%
50%
25%
One parent is
a carrier, one
is unaffected
0%
50%
50%
Whether a child is affected by Pompe depends on whether his or her parents
have the condition or are carriers, and how the genes are inherited (based on the
inheritance scenarios above). This explains why some children are affected while
their brothers or sisters are not.
assessment
To learn more about genetic
.
and counselling, see page 13
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What are the symptoms of Pompe?
The most common symptom of adult-onset Pompe is progressive muscle
weakness. This is often first experienced in the legs, hips or shoulders
as well as the muscles used in breathing (such as the diaphragm). As the
disease progresses over time, muscle weakness may extend to the face,
neck, throat and abdomen.
Have trouble
keeping your
balance
Feel sleepy
during the
day
Have breathing
problems (especially
at night) and
trouble sleeping
Experience
muscle pain
and soreness
Find it difficult to sit
up comfortably or
stand up straight
POMPE SYMPTOMS
Walk with
a sway
or limp
If you have Pompe you may:
Have difficulty
walking or have a
waddling gait
Develop a
curved spine
Find yourself
feeling breathless
after doing mild
exercise (such as
climbing the stairs)
It is important to remember that Pompe causes a wide
range of symptoms and different people will have different
sets of symptoms and challenges.
Experience
headaches in
the morning
Find it difficult
to chew or
swallow food
Feel tired
constantly
Find it
difficult to get
up from a chair
or the floor
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Testing and diagnosis
It may have taken some time for you to receive a correct
diagnosis for Pompe as recognising the condition is often difficult.
Diagnosing Pompe is tricky
for a number of reasons:
• It is a rare disease
• Many symptoms are
non-specific and
resemble those of
other neuromuscular
disorders (eg dystrophies,
congenital myopathies,
motor neuron disorders)
• Symptoms can vary
widely – the age at
which they appear, how
severe they are and how
quickly they develop
differs from one person
to the next
To diagnose your condition,
your doctor may have
performed a simple blood
test to determine the level of
GAA enzyme activity present
in your bloodstream – people
with Pompe have lower than
normal GAA activity levels.
Your doctor may also have
conducted a biopsy of your
muscle which would have
involved taking a small sample
and examining the muscle
fibres under a microscope.
Finding out you have Pompe
can be quite scary but many
patients describe feeling a
sense of relief finally knowing
what’s wrong. Being diagnosed
is also an important step
forward as it allows you
to receive the appropriate
treatment and therapy to
help you manage your
condition over time.
ibly
If you have Pompe, other members of your family may poss
be at risk too as it is an inherited condition.
page 13.
To learn more about genetic testing and counselling, see
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Adjusting to life with Pompe
Having Pompe may involve making changes to your
everyday life. Many parts of your body may be affected
by muscle weakness, which can have an impact on your
daily routines. However, these changes don’t always mean
you have to give up your independence or the activities
you enjoy – instead, you just need to learn new ways of
adapting to your changing condition.
The following sections describe common challenges faced by people with
Pompe – you may not experience all these symptoms, but being aware of
them can help you take steps to manage them, should they arise.
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Mobility
Breathing
Sleep
As time passes, you may find your
muscles growing weaker, making
it harder for you to walk and move
about. Things like standing up,
bending down or getting up from a
chair might tire you out.
You may find yourself having
difficulty breathing, especially at
night when sleeping. This may
progress gradually over time and
affect your breathing during the
day as well.
There are many ways for you to
adjust and an occupational therapist
will be able to assess your needs.
You may choose to:
As the muscles in your diaphragm
get weaker, it can become more
difficult to take in enough oxygen
into your lungs. Because of this,
you may find yourself:
Having trouble breathing can
also lead to problems sleeping at
night. You might find it difficult to
fall asleep or stay asleep, or even
experience nightmares. This can
result in you feeling tired during
the day. Some people may even
develop sleep disorders such as
sleep apnoea (abnormal pauses
in breathing).
• use equipment that can provide
you with extra support and
stability (eg shower chair, seat
cushions, foam mattress, walking
sticks or walkers)
• adapt your environment to suit
your specific needs (eg install
ramps, use a modified car or bike
to get around)
• ask others for help when
performing certain tasks
The biggest challenge is often trying
to balance the increasing need for
support with the desire to remain
as independent as possible. Using
specially adapted technology or
even a wheelchair can help you stay
active and independent.
Exercise and physical therapy can also
be beneficial, helping to ease muscle
aches and pains, reduce stiffness,
increase flexibility and mobility as well
as raise your energy levels.
Your physiotherapist or occupational
therapist will be able to give you
helpful advice and come up with a
suitable exercise programme for you.
For more information, refer to the
‘Physiotherapy and Pompe’ leaflet.
• out of breath when talking and
having to pause mid-sentence
to take a breath
• having a hard time
concentrating or staying alert
• taking longer to complete tasks
• feeling out of breath when at
rest or exercising
• unable to clear your airways of
mucus due to a weak
cough reflex
• using the muscles in your neck
and spine to help you breathe
Your physiotherapist may suggest
various exercises to help you
breathe better. If necessary, your
doctor may recommend using a
ventilator. Although this may seem
cumbersome at first, a ventilator
can greatly improve the quality
of your life.
Headaches
You may also suffer from
headaches, especially in the
morning after you wake up.
Headaches, which are a common
symptom of Pompe, are caused by
breathing problems experienced
during sleep. They occur when
the lungs cannot remove enough
carbon dioxide from the body due
to weakened breathing muscles.
If you find yourself experiencing
any of the above symptoms, speak
to your healthcare team who will
be able to recommend ways to
ease your breathing problems and
help you get a better night’s sleep.
You may also find the ‘Breathing
and Pompe disease’ leaflet useful.
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Eating
Pain and fatigue
Socialising
Pompe can cause eating
problems. You may find it
difficult or tiring to bite, chew
and swallow your food. Choking
is also a common problem and
it is important to protect your
lungs from infection by eating
appropriately prepared foods.
Pain and fatigue are two of the
most common symptoms of Pompe.
Pain and soreness can occur in the
muscles affected and some people
report feeling a burning sensation
or a ‘heavy-legged’ feeling. You
may be tired constantly, feeling
lethargic, weak or exhausted
(mentally, physically or both). You
may also find it hard to concentrate
during the day if you are having
trouble sleeping well at night due
to breathing difficulties.
Pompe can also impact certain
aspects of your social life. You
may find going out tiring or
troublesome, however, this
doesn’t mean you have to stop
meeting up with friends or going
to places you enjoy. In fact, a
change of environment every now
and then can be refreshing and
can help boost your mood.
Additionally, it can be hard to
eat when you are struggling to
breathe at the same time. As
a result, you may have a poor
appetite and find yourself losing
weight as your body doesn’t get
the nutrients it needs.
Speak to your dietitian who will
be able to give you advice and
plan well-balanced meals to
ensure your body is receiving the
right amount of nutrients and
calories it needs to function well
every day.
Sometimes difficulties swallowing
may also affect your ability to
speak properly. If you find yourself
having problems talking, contact
your doctor who will be able
to refer you to a Speech and
Language Therapist (SaLT).
Experiencing pain and feeling
tired constantly can disrupt your
daily activities, impact your ability
to work well and affect your
overall well-being. Speak to your
healthcare team, who will be able
to recommend ways to improve
how you feel, such as physical
therapy or equipment to help you
move or breathe better.
Here are some things to consider
before going out:
• Do some research ahead of
time to see if the place you’re
going has the facilities to
support your needs
• Plan your route ahead of time
• Consider using a wheelchair
so that you don’t feel too
dependent on others
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The emotional effects of Pompe disease
Coping with my emotions
Learning that you have Pompe
can be frightening. Although
you may have felt something
was not quite right for a
while, being diagnosed can
still come as a shock. It is
natural to experience a variety
of emotions – anxiety, anger,
loneliness, despair.
Helping myself feel better
People deal with challenges in
different ways and you will soon
figure out what works best for
you. There are things you can
do to make yourself feel better,
both physically and emotionally,
and having a positive attitude
can help you cope well with
the changes ahead.
It may take some time to
understand what is happening
to your body and to come to
terms with your diagnosis, but
people with Pompe have said
it often gets easier to cope
with as time goes on.
Talking to others with Pompe
can help. The Association for
Glycogen Storage Disease
UK (AGSD-UK) can help you
to get in touch with other
people who have Pompe;
see the ‘Resources’ section
on page 15 for
contact details.
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Here are some tips you may find useful
Learn about Pompe
Talk to someone
Although you may have been
experiencing symptoms for
some time, it can take a while
to adjust to the fact that you
have Pompe. Learning about
the condition and how it can
affect your body is often helpful
in understanding and preparing
for the changes that lie ahead.
Speaking to your healthcare
team, reaching out to others
and doing your own research
online are all good ways of
finding out more about Pompe.
Learning you have Pompe can
be scary, but sharing your
fears and concerns with others
can help ease your burden. It
can also help your family and
friends better understand your
diagnosis and what it means.
When you feel ready to
discuss your diagnosis, it is
useful to remember that most
people wouldn’t have heard of
Pompe and are likely to have a
lot of questions. The more you
know about the condition, the
easier it will be to talk about it
with others.
Seek professional
help if needed
If you find yourself
overwhelmed by the emotions
you are experiencing, or if you
are feeling depressed, it is
important to seek help. Talk
to your GP about any issues
you may have. Professional
counsellors, can help guide
you through what you are
feeling and provide the
support you need.
same
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Genetic assessment and counselling
Family assessment
Because Pompe is inherited,
this means that other members
of your family could possibly
be affected too, or be carriers
of the disease. It may therefore
be important that your brothers,
sisters and possibly close
family members are aware of
this. Genetic counselling is
available – speak to a member
of your healthcare team for
further advice.
Planning for a family
Learning about Pompe and
how it is inherited can help
you make informed choices
for you and your family.
If you are thinking about
having a baby, it is
important to:
• be aware of the possible
health risks involved
(such as how muscle
If you or your partner has
weakness can affect
Pompe, you may be concerned
you during and after
about having children. For
pregnancy)
women, being affected with
Pompe should not affect your • speak to a local genetic
ability to get pregnant or to
counsellor for guidance
successfully carry a baby to
term. However, you may have
to undergo more frequent
antenatal checks and require
additional respiratory support
during pregnancy.
able to
Your specialist team can refer you to a genetic counsellor, who will be
with
discuss issues of genetic inheritance, family planning and pre-natal testing
ers
memb
family
you and your family. A genetic counsellor can arrange for other
to
to be tested and provide you with any further information you may need
make informed personal decisions.
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Continuing to work
Money and finances
Travel
Having Pompe doesn’t necessarily
mean you have to stop working.
You might have to make a few
adjustments in time, but if you
feel like you can cope, it is entirely
possible to continue with your job.
Your local Job Centre Plus is a good
starting place for any queries about
financial help you may be entitled
to. Information is also available
at the GOV.UK website; search for
‘financial help if you are disabled’
for an overview of the support
available. You may be required to
take part in a disability assessment,
through a questionnaire or an
independent health assessment
with a doctor. Assistance may be
available whether you are employed
or not.
When planning a holiday, it may
be useful to contact the AGSD-UK;
they can signpost you to travel
services and advise on travel
insurance. See the box on the next
page for contact details.
Your employer may understand a
little about your condition and be
able to help you make reasonable
work adjustments. If you have an
Occupational Health department,
they may be a helpful point of
contact for you and your manager.
Changes may include:
• Allowing you to work parttime or flexible hours
• Making physical changes
to your work environment
(eg modifying your
workstation)
If you have problems with activities
related to daily living or mobility,
you may be eligible for the Personal
Independence Payment (PIP). PIP,
which is replacing the Disability
Living Allowance (DLA), is available
to everyone aged 16 to 64 with
a long-term health condition or
disability. The amount you receive
will depend on the extent to which
Pompe affects your daily life.
You may also qualify for the
Motability scheme, which allows you
to use part of your benefit payment
to lease a car, scooter or powered
wheelchair. Additionally, if Pompe
affects your ability to work, you
may be eligible for Employment and
Support Allowance (ESA).
You and your family may be worried
about the impact genetic assessment
can have on health insurance and
mortgage applications. For additional
help, please see the resources in the
box on the next page.
Priority Services
Customer
You can sign up to your energy
supplier’s Priority Services
Register, which is a scheme that
offers additional services free of
charge to help meet any special
requirements you may have. The
benefits of being on the register as
a high-priority customer include:
• Advance notice if your energy
supply will be interrupted and
priority reconnection in the
event that it does
• Having your meter moved to a
location that is easier for you
to access, or free readings
every quarter if you are unable
to read your meters
• Specially designed appliance
controls or adaptors
Support and resources
Looking to the future
As your condition progresses over time, the symptoms you experience and the challenges you face
are likely to change as well. Although this may seem scary at first, you are not alone as your team of
healthcare professionals will be able to offer advice and you can use the patient support groups listed
below to reach out to others with Pompe. Planning for your changing needs will help you live as well as
you can. A positive attitude and creative problem-solving skills will help you meet new challenges head
on and help you adapt to your changing needs.
Resources
Association for Glycogen Storage Disease UK
(AGSD-UK)
www.agsd.org.uk
Telephone: 01489 877991
Useful source for information on treatment, research
news, national Pompe events, links to who to contact for
help and other support resources (eg GSDNet – electronic
mailing list for affected families).
UK Family Support Officer
The AGSD-UK can provide support from their clinical nurse
specialist, based at St. Mary’s Hospital, Manchester.
Acid Maltase Deficiency Association (AMDA)
www.amda-pompe.org
Read about patient stories, various initiatives
and research into Pompe, and sign up for the Patient
Registry on the AMDA website.
Genetic Alliance UK
www.geneticalliance.org.uk
Provides support to individuals and families with rare
genetic diseases. Useful resource on current policy
campaigns, genetic testing, insurance and other
useful information.
International Pompe Association (IPA)
www.worldpompe.org
Leaflets covering a range of different topics relating to
Pompe are available for download in over 10 languages.
There is also a dedicated section to patient stories
and advice.
Muscular Dystrophy Campaign (MDC)
www.muscular-dystrophy.org
Covers muscular dystrophy and related neuromuscular conditions
(including Pompe). Provides results from recently completed
clinical trials and information on getting help and financial support
for your condition (eg grants for funding home adaptations).
Your working rights
For information and advice, and for the address of your local
Citizens Advice Bureau visit www.citizensadvice.org.uk.
Financial matters
Benefit Enquiry Line (a confidential freephone service
for disabled people and carers): 0800 882200.
The Concordat and Moratorium on
Genetics and Insurance
Visit www.gov.uk and search for The Concordat
and Moratorium on Genetics and Insurance.
Dealing with problematic insurance companies
Contact the free Independent Arbitration Service
(www.idrs.ltd.uk) or Financial Ombudsman Service
(www.financial-ombudsman.org.uk) for help.
Holiday planning
When arranging travel or a holiday, contact the AGSD-UK
for advice on 01489 877991 or visit www.agsd.org.uk.
Priority Services Register
To ensure continuity of services in case of energy or
water supply disruption, visit www.adviceguide.org.uk
and search for Priority Services Register.
This information was provided by Genzyme to
improve the understanding of Pompe disease.
We would like to thank Allan Muir and Joan
Fletcher from the AGSD-UK, Dr Tracey Willis,
Kathryn Titchen, Carolyn Evans and Ana Amado
Fondo for all their contributions.
Genzyme Therapeutics Ltd,
4620 Kingsgate,
Cascade Way
Oxford Business Park South,
Oxford
OX4 2SU.
01865 405 200
Date of preparation: April 2014
Job code: MYOZ-UK-4/14-4947
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