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About Pompe disease

What is Pompe disease?

Pompe disease is a rare disorder that affects the muscles and other systems in the body. In Canada, about 60-70 people have been diagnosed with it, but there are many more who haven’t been checked by a doctor yet. There are two kinds of Pompe disease: one that starts when you’re a baby and another that starts at any age.

Pompe disease is something you’re born with. If someone in your family has it, others might be affected too. Doctors might suggest checking if anyone else in the family has it.

The good news is there’s treatment for Pompe disease. With the right doctors and care, it can usually be managed. Diagnosis is key.

What Causes Pompe disease?

Pompe disease happens when your body doesn’t have enough of a special enzyme called acid alpha-glucosidase (GAA).

This enzyme helps break down a substance called glycogen into glucose, which is a kind of sugar your body needs. Without enough of this enzyme, glycogen builds up in your body and can hurt your muscles, especially as you grow. How bad the symptoms are depends on how little of the enzyme your body makes.

In babies with severe Pompe disease, they have very little of this enzyme. These babies are very weak and might not live long without treatment. In older kids and grown-ups with Pompe disease, they make some of this enzyme, so their symptoms can show up earlier or later. They are less severely affected, but it is still a debilitating disease, especially if treatment is delayed.

Pompe disease gets worse over time, so it’s important to get diagnosed and treated.

How common is it?

Around the world, there are between 5,000 to 10,000 people with Pompe disease. In Canada, about 60-70 people have been diagnosed, but there are more that we don’t know about yet. Newborn screening in the US and a few other coutries shows that Pompe disease is more common than we once thought.

The genetics of Pompe disease

Pompe disease is passed down from parents to their children. To have Pompe disease, you need to get a ‘bad’ gene from both your parents. If you only have one ‘bad’ gene, you might not have any symptoms, but you could still pass the gene to your kids. If two people who are carriers (they have one ‘bad’ gene) have a baby, there’s a 25% chance the baby will have Pompe disease, a 50% chance they’ll be a carrier like their parents, and a 25% chance they won’t have Pompe disease or be a carrier.

Diagnosing Pompe Disease

Diagnosing Pompe disease can be tricky because symptoms and how bad they are can be very different from person to person.

Doctors usually confirm Pompe disease by checking for low levels of the GAA enzyme and looking for specific gene changes related to the disease.

Most experts recommend testing newborns for Pompe disease because finding it early can make treatment more effective, especially in the more severe infantile type. But in Canada, this test isn’t part of the regular newborn screening. Some places like Taiwan and many parts of the US do include it in their tests for most newborns. Data generated from those regions has shown that Pompe disease is more than twice as common as once thought.

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