THE INSIDE
pompe
Living well with Late-onset Pompe
Pompe Overview
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.
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
In people with Pompe, glycogen builds up within the lysosomes as
there is no GAA or insufficient amounts of GAA to break it down
lysosome
glycogen builds up
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
glycogen begins to leak out
doctor Johannes Pompe, who first
Pompe disease is named after the Dutch
Other names for Pompe include
.
1932
in
nt
discovered it in an infant patie
II) and acid maltase deficiency.
glycogen storage disease type two (GSD
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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
(babies under one)
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.
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
(childhood and adult)
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.
Late-onset Pompe is often milder than the infantile-onset 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.
A carrier is someone who has one
normal gene and one abnormal
gene. Carriers do not display
any symptoms.
Inheritance scenarios
Pompe disease can be inherited in a number of ways:
Both parents
For each and every
pregnancy, the likelihood have Pompe
disease
that a:
Child will have Pompe
Child will be a carrier
Child will be unaffected
100%
0%
0%
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.
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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.
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
Have trouble
keeping your
balance
Experience
headaches in the
morning
POMPE SYMPTOMS
Find it difficult
to chew or
swallow food
If you have Pompe you may:
Walk with
a sway
or limp
Have difficulty
walking or have a
waddling gait
Find yourself
feeling breathless after
doing mild exercise (such
as climbing the stairs)
Feel tired
constantly
Develop a curved
spine
Find it
difficult to get up
from a chair or
the floor
It is important to remember that Pompe causes a wide range of symptoms
and different people will have different sets of symptoms and challenges.
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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 11
To learn more about genetic testing and counselling, see
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Living with Pompe
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.
Mobility
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.
There are many ways for you to adjust and an occupational therapist will be able to assess
your needs.
You may choose to:
• 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.
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Breathing
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.
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:
• 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.
Sleep
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).
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
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.
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).
Pain and fatigue
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.
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.
Socialising
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.
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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Emotional Effects
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.
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.
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.
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 13 for contact details.
Here are some tips you may find useful
Learn about Pompe
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.
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Talk to someone
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.
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Genetic Assessment
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 or your partner has Pompe, you may be concerned about having children. For women,
being affected with Pompe should not affect your ability to get pregnant or to successfully carry
a baby to term. However, you may have to undergo more frequent antenatal checks and require
additional respiratory support during pregnancy.
If you are thinking about having a baby, it is important to:
• be aware of the possible health risks involved (such as how muscle weakness can affect you
during and after pregnancy)
• speak to a local genetic counsellor for guidance
be able
Your specialist team can refer you to a genetic counsellor, who will
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Useful Information
Continuing to work
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 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 part-time or flexible hours
• Making physical changes to your work environment (eg modifying your workstation)
Money and finances
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.
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.
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Travel
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 below for contact details.
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
Helpful resources on:
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.
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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).
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. Tel: 01865 405 200
Date of preparation: April 2014 | Job code: MYOZ-UK-4/14-4947a
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