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 lysosome 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 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 Pompe disease is named after the Dutch doctor Johannes Pompe, who first discovered it in an infant patient in 1932. Other names for Pompe include glycogen storage disease type two (GSD II) and acid maltase deficiency. 1
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. 2
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: For each and every pregnancy, the likelihood that a: Both parents have Pompe disease One parent has Pompe disease, one is unaffected One parent has Pompe disease, the other is a carrier Both parents are carriers One parent is a carrier, one is unaffected Child will have Pompe 100% 0% 50% 25% 0% Child will be a carrier 0% 100% 50% 50% 50% Child will be unaffected 0% 0% 0% 25% 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. 3
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 Experience muscle pain and soreness Find it difficult to sit up comfortably or stand up straight Have trouble keeping your balance Have breathing problems (especially at night) and trouble sleeping POMPE SYMPTOMS If you have Pompe you may: Experience headaches in the morning Find it difficult to chew or swallow food 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. 4
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. If you have Pompe, other members of your family may possibly be at risk too as it is an inherited condition. To learn more about genetic testing and counselling, see page 11 5
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. 6
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. 7
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 8
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. 9
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. Sometimes it can be easier to talk to someone who is experiencing the same things and also knows what it feels like to live with Pompe on a day-to-day basis. You can do this by getting in touch with patient associations like the Association for Glycogen Storage Disease UK (AGSD-UK). See the 14 for more details. 10
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 Your specialist team can refer you to a genetic counsellor, who will be able to discuss issues of genetic inheritance, family planning and pre-natal testing with you and your family. A genetic counsellor can arrange for other family members to be tested and provide you with any further information you may need to make informed personal decisions. 11
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. 12
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. 13
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 14