What Is Pompe Disease?
If you or your child has Pompe disease, it's important to know that each case is different, and that doctors have treatments to help manage it.
Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs.
Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. You might hear Pompe disease called by other names such as GAA deficiency or type II glycogen storage disease (GSD).
Although it can happen to anyone, it's more common in African-American people and some Asian groups.
You get Pompe disease from your parents. To get it, you have to inherit two flawed genes, one from each parent.
You can have one gene and not have symptoms of the disease.
What symptoms you have, when they start, and how much trouble they are can be very different for different people.
A baby between a few months old and age 1 has early-onset, or infantile, Pompe disease. This could look like:
- Trouble eating and not gaining weight
- Poor head and neck control
- Rolling over and sitting up later than expected
- Breathing problems and lung infections
- Enlarged and thickening heart or heart defects
- Enlarged liver
- Enlarged tongue
If you're older when symptoms start -- as late as an adult in your 60s -- it's known as late-onset Pompe disease. This type tends to move slowly, and it doesn't usually involve your heart. You might notice:
Getting a Diagnosis
Many symptoms are similar to other medical conditions. To help figure out what's going on, your doctor may ask:
- Do you feel weak, fall often, or have trouble walking, running, climbing stairs, or standing up?
- Do you have a hard time breathing, especially at night or when you lie down?
- Do you get headaches in the morning?
- Are you often tired during the day?
- When you were a child, what kinds of health problems did you have?
- Does or did anyone else in your family have troubles like these, too?
You may need to get tests, depending on what symptoms you have, to rule out other conditions.
If your doctor thinks you might have Pompe disease, it's often confirmed with these tests:
- Check a sample of muscle to see how much glycogen there is
- Check a blood sample to see how well the "bad" protein is working
- Look for the genetic problem that causes Pompe disease
It can take about 3 months to diagnose Pompe disease in a baby. It can take as long as 7-9 years for kids and adults. After doctors are sure, it's a good idea to test family members for the gene problem, too.
Questions for Your Doctor
- What can I expect going forward?
- What treatments are best for me now? Is there a clinical trial that would be good for me?
- Do these treatments have side effects? What can I do about them?
- How do we check on my progress? Are there new symptoms I should watch for?
- How often should I see you?
Early treatment, especially for babies, is critical to holding off the damage in the body. Enzyme replacement therapy (ERT) improves survival as well as cardiac, and motor function.
Three medications replace the missing protein and help your body process sugar correctly. You take them by injection.
- Myozyme, for babies and children
- Nexviazyme, for those 1 year of age and older with late-onset Pompe disease
For adults with late-onset Pompe disease who have not been helped by enzyme-replacement therapy (ERT), the FDA has approved a new treatment that combines two medications. It involves taking the injectable ERT cipaglucosidase alfa-atga (Pombiliti) and miglustat (Opfolda), an enzyme stabilizer that comes in capsules. The Pombiliti + Opfolda treatment is for those who weigh at least 88 pounds. It's unclear if the combination medication works and is safe for children.
Taking Care of Yourself
Living with Pompe disease can be challenging. You and your family may want to see a counselor to help you come to terms with what's happening, especially as your abilities change. A support group can also be a safe place to share your feelings and find understanding.
Support groups can be a good source of practical tips, too. For example, if you have trouble eating, you can try adding thickeners to your food to make it safer to swallow. You might need to use a feeding tube to make sure you get enough nutrients.
What to Expect
Because Pompe disease can affect many parts of the body, it's best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include:
- A cardiologist (heart doctor)
- A neurologist, who treats the brain, spinal cord, nerves, and muscles
- A respiratory therapist, who can help your lungs and breathing
- A nutritionist, who can help you eat to stay healthy
Generally, the later in life the disease shows up, the slower it moves. Babies can be treated, but because their symptoms are more intense and progress quickly, they usually don't live for more than a year. With late-onset Pompe disease, the muscle weakness gets worse over time and will eventually lead to serious breathing problems, perhaps many years later.
Although there is no cure, treatment can relieve symptoms and help people live longer.
You can find more information and connect with other people who have Pompe disease through the web site of the Acid Maltase Deficiency Association.