Living With Pompe Disease

Whether it is you or a loved one who is diagnosed with Pompe disease, you likely have many questions about the condition. Even if you have been living with Pompe disease for a long time, new questions are bound to arise. It is normal to have these questions, and a good healthcare team will encourage you to ask them. No matter where you are at in your Pompe disease journey, having a list of questions on hand to ask your doctor can help you steer the conversation to best meet your needs. Each person’s case will be different. But there are some common questions that might be helpful to consider for your next visit. Diagnosis and genetic counseling Being tested for Pompe disease can be a confusing process. Most people will take a blood test followed by genetic testing. Some babies might be tested in their newborn screening. After you are diagnosed, confirming your exact diagnosis and genetic mutation can help you move forward.1,2 What are the results of my blood test or my baby’s newborn screening? Are there any follow-up tests I need to confirm the diagnosis? Do you know what type of genetic mutation I have? What symptoms do you expect for my age or type of mutation? Is my case mild or severe? What serious symptoms should I watch out for? How soon should I contact you if I notice these? Are there any tests I need now to monitor progression? Should anyone else in my family be tested for Pompe disease? Can you connect me with a genetic counselor? What should I do if I am planning to become pregnant or are pregnant? Treatment planning The main staple of Pompe disease treatment is enzyme replacement therapy (ERT). People with Pompe disease are missing a protein that helps break down stored sugars. ERT provides the body with this protein. Ask your doctor about what to expect and watch out for during treatment for Pompe disease.1,2 What type of ERT do you recommend? Why? How often will I need treatment? How do I take it? What common side effects should I expect? Are there any serious side effects to watch out for? What should I do if I miss a dose? How soon should the treatment start having effects? What kind of symptom relief might I have? Living with Pompe disease In addition to ERT, there are steps you can take to help manage Pompe disease. Asking questions about living with Pompe disease day to day can help you make a plan to stay as healthy as possible.1-3 Should I exercise? Which types of exercise are best? Would it be helpful to see a physical therapist? Do I need to make any changes to my diet? Is there someone who can help me with meal planning, like a dietician? Should we include any other experts on my healthcare team? Would a mental health professional or therapist be helpful for me? Are there any support groups you can recommend? Are they in person or online? Are there any other changes I can make to my lifestyle to improve my well-being? Each person’s question list will be unique. What you ask is up to you. Your doctor should empower you to ask for the information you need to feel confident in your next steps. This is especially true when it comes to treatment planning. Feeling prepared for the future and knowing how to follow your treatment plan are important. Of course, getting so much information from your healthcare team all at once can be overwhelming. Take notes on a sheet of paper or your phone if you need to. If you feel comfortable, bring a loved one to the visit with you. They can help you record and remember the answers you receive. [lead_gen showIfLoggedIn="0" campaign="shortcode" source="site"] Pompe disease is a rare, inherited disease in which the body cannot process glycogen, a type of sugar. People with Pompe disease do not make enough of a chemical in the body called acid alpha-glucosidase (GAA). GAA is an enzyme that helps the body break down complex sugars. Without GAA, these sugars build up in the organs and muscles, causing serious symptoms or death.1,2 Pompe disease was the first genetic disorder identified in a group of conditions called lysosomal storage diseases. There are nearly 50 of these diseases. Each is caused when the body does not create a particular enzyme. This leads to toxins building up in the body and causing organs to fail.1,3 There is no cure for Pompe disease, but there are treatments. Pompe disease may also be called:1,2 Acid alpha-glucosidase (GAA) deficiency Glycogen storage disease II Acid maltase deficiency Types of Pompe disease There are 3 types of Pompe disease:1,2 Classic early-onset appears within a few months of birth Non-classic early-onset appears around age 1 Late-onset appears later in childhood or in adulthood Babies with early-onset Pompe disease make no or very little GAA. Symptoms include an enlarged heart, feeding problems, muscle weakness, and breathing problems. A large tongue is common. Most children with classic early-onset type die from heart or lung complications before their first birthday. Children with non-classic early onset may live into early childhood.2,4 Children and adults with late-onset Pompe disease make some GAA, but not enough. Symptoms can begin at any age and rarely include heart problems. Instead, muscle weakness in the hips and shoulders progresses to the breathing muscles. People with this form of Pompe disease may live longer because their disease progresses more slowly.1,2,4 Pompe disease treatments Treating Pompe disease is complicated and requires coordination between many specialist doctors. A typical care team could include a pediatrician or internist, cardiologist, neurologist, orthopedist, pulmonologist, dietitian, physical therapist, speech therapist, and respiratory therapist.1,4 Medicines approved for people with this condition include:1 Alglucosidase alfa (Lumizyme©) is approved to treat all ages with Pompe disease Avalglucosidare alfa-ngpt (Nexviazyme©) is approved for age 1 and older with late-onset Pompe disease These drugs replace the GAA enzyme the person's body does not make on its own. This prolongs life but is not a cure.2,5 Many other treatments are used to help relieve the complications of Pompe disease:5 Physical therapy to strengthen breathing muscles Devices such as braces, canes, walkers, or wheelchairs to aid movement as muscles weaken Speech therapy for problems talking Surgery to correct spine issues Special high-calorie diet to maintain weight Feeding tube and a ventilator at later stages Research into new treatments Early clinical studies are underway to try and find new treatments for Pompe disease. Gene therapy shows promise. Gene therapy uses a gene to treat or cure a disease. It works by adding new copies of a gene that is broken or replacing a defective or missing gene. With Pompe disease, the new gene would help the body make enough GAA to process glycogen properly.1,6 Other studies are looking at whether new medicines, exercise, and high-protein diets may slow the disease.1 [lead_gen showIfLoggedIn="0" campaign="shortcode" source="site"] Right now, there is no cure for Pompe disease. The main treatment is enzyme replacement therapy (ERT). ERT drugs help replace the protein (enzyme) that is low or missing in people with Pompe disease. This enzyme is called acid alpha-glucosidase (GAA).1,2 While ERT is the main treatment, there are additional ways to help manage the symptoms of Pompe disease. These include nutrition and exercise. Eating a healthy diet and staying physically active (within safe limits) may slow disease progression and improve well-being.1,3-5 Nutrition and Pompe disease GAA is an enzyme that helps with sugar breakdown. When you eat, your body packages sugar together and stores it in your cells. These larger sugar packages are called glycogen. Your body then breaks down glycogen when it needs energy.1,2 However, if your body cannot break down glycogen, the sugar builds up and damages important muscles. This leads to the muscle weakness and heart problems that can occur with Pompe disease.1,2 Balancing energy needs Eating the right balance of calories and nutrients is of special concern for people with Pompe disease. On one hand, the muscle weakness caused by the condition can lead to being inactive. When you are inactive, your body does not need as much food for energy. Thus, it can be easy to overeat and gain weight.2,3 On the other hand, having Pompe disease can make it difficult to chew and swallow food. You may eat less as a result. When you do not get enough nutrients from food, it can be harder to fight infections or other stressors.2,3 Overall, if you have Pompe disease, it is important to match your food intake to your energy needs.2,3 Diet as a treatment option Before ERT became the primary treatment for Pompe disease, diet was one of the main ways to manage the condition. Doctors often recommended certain supplements. These included amino acids, the building blocks of proteins. Also, they closely monitor the balance of proteins, fats, and carbohydrates (carbs) in a person's diet.1,3,4 There are still benefits to following specific diets along with ERT for people with Pompe disease. For example, a high-protein diet may:3,4 Prevent or slow muscle breakdown Help build lean muscle mass Help you feel full for longer Decrease your desire to eat carbs, which contain sugars Exercise as a treatment option Exercise can be a helpful treatment alongside ERT as well. For people with Pompe disease, many experts recommend a low-to-moderate exercise program that combines both aerobic and resistance exercises.3,5 Aerobic exercises are commonly called cardio and include activities like walking or running. Resistance exercises help build muscle. They include sit-ups, push-ups, or light weight training.3,5 In general, physical activity can help:2,4 Improve quality of life Maintain strength Restore muscles Improve range of motion Reduce inflammation from muscle damage Encourage the body to use fatty acids rather than sugars for energy (important for those who cannot break down sugars easily) Studies also have shown that regular moderate-intensity aerobic exercise can improve ease of breathing and quality of life. Aerobic exercise, especially when combined with a high-protein diet, may also reduce signs of muscle breakdown on blood tests. Preventing muscle breakdown can help keep you active for longer and improve long-term outcomes.1-5 Physical and speech therapy to target certain muscle groups Pompe disease often affects the muscles that control breathing, making it hard to breathe or cough. Some people may need a ventilator (a machine that helps or takes over breathing) or supplemental oxygen. Also, the inability to cough can lead to lung infections. Working with a physical therapist can help target the breathing muscles and improve symptoms.1,2 Several studies have found that targeted breathing exercises lead to a decreased need for breathing support (like daytime ventilators).1,2 In some cases, Pompe disease affects a person's ability to swallow and speak. A speech therapist can suggest exercises to strengthen these muscles.1,2 To make the best diet and exercise plan for you, talk to your doctor. They can help you create a plan based on what foods you like to eat, exercises you can do, and other health issues you might have. [lead_gen showIfLoggedIn="0" campaign="shortcode" source="site"] ,Pompe disease is a genetic condition. People with Pompe disease have changes in specific genes that impact how they break down sugar. These gene changes are called gene, or genetic, mutations.1-3 Understanding genes Genes carry information in your body. They tell your body how to make proteins, cells, or other important things you need to survive. Some genes control visible things, like your eye color or hair color. Other genes carry instructions for things so small that we cannot see them. This includes instructions for how our cells work.4 Gene mutations linked to Pompe disease In people with Pompe disease, genetic mutations affect the way a certain protein works in their body. This protein is called acid alpha-glucosidase (GAA). GAA plays a role in breaking down a complex sugar called glycogen into smaller sugar molecules. Your body uses these smaller molecules for energy.1-3 Because of certain genetic mutations, people with Pompe disease do not have enough active GAA. Right now, there are over 600 different gene mutations that can lead to low GAA and Pompe disease.1 Types of Pompe disease Pompe disease can show up in infants (infantile-onset Pompe disease) or in older children or adults (late-onset Pompe disease). Which type a person has depends on which genetic mutations they have.1-3 People with infantile-onset Pompe disease have little to no active GAA. This leads to muscle weakness and heart disease very early in life. In people with late-onset Pompe disease, some GAA is present and working. This can prevent symptoms from appearing until later in life.1-3 Specific gene mutations can help predict how early a person will show symptoms. But there can still be a lot of variety between people. Both genes and the environment a person lives in play a role in when symptoms appear and how severe they are. Experts are actively studying these factors to learn more.1,3,5 Being a carrier versus having Pompe disease We inherit, or receive, our genes from our parents. We have two copies of every gene. One copy comes from our mother, and the other comes from our father. If a parent has a mutated gene, there is a chance they will pass it down to their baby.4 The gene copies we get from each parent are random. These random combinations of genes are why we are different from each other, even from our siblings.4 With some conditions, only one mutated gene is needed for the baby to have the condition. In others, like Pompe disease, both copies of the gene need to be mutated for the baby to have it. Diseases that require both copies are called autosomal recessive disorders.5 So, people with only one mutated gene will not have Pompe disease. Instead, they will be a carrier. Many people who are carriers for Pompe disease will never know it. But carriers can pass down a mutated gene to their baby. If they pass the mutation on while the other parent does not, the baby will be a carrier, like them. But if both parents pass down a mutated gene, the baby will have Pompe disease.1,5 The role of genetic counseling Genetic counselors can be helpful in diagnosing genetic issues. They also can help predict how a genetic disease might show up over time. For example, if you have a mutation that is linked to late-onset Pompe disease, your condition likely will be slower to progress and less severe.1,3 Genetic counseling is a useful tool in family planning. If you have a family history of a genetic condition like Pompe disease, you may want to get tested to see if you are a carrier. Your partner can be tested too. This can help determine whether your baby will be at risk. If neither you nor your partner, or only one of you, is a carrier, your baby probably will not have Pompe disease.6,7 Genetic counseling may also be used to test the siblings of a person with Pompe disease to find their risk of having the condition. It is also possible to test for the genetic mutations linked to Pompe disease before a baby is born.6,7 Some genetic tests are covered by health insurance, and others are not. A genetic counselor can help you navigate payment as well.6,7 Finding a genetic counselor Genetic counselors can help recommend genetic tests and interpret the results. What you decide to do with the results is up to you and your loved ones.6,7 To find a genetic counselor, first ask your doctor. Many specialists, like neurologists, work closely with genetic counselors. If you are pregnant or trying to become pregnant, your primary care or ob-gyn doctor can help direct you.6,7 There are also resources you can use on your own. The National Society of Genetic Counselors has a searchable directory. Or you can search the clinic directories published by the American College of Medical Genetics and Genomics. [lead_gen showIfLoggedIn="0" campaign="shortcode" source="site"]

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