Pompe Disease and Pregnancy: Answering the Important Questions

So you’re looking to get pregnant or curious about some part of it. Well, you’ve come to the right place! If you’re looking to have a baby, but you also have Pompe disease, you may be wondering about the intersection between Pompe disease and pregnancy. Can you pass it to your baby? Is there any special action you need to take? According to Pompe Disease News, there is some important information you need to know.

So take a look below, and I’ll fill you in on everything!

Pompe Disease

Pompe disease is a rare genetic disorder caused by a mutated GAA gene. People with Pompe disease have high levels of glycogen, but the body is unable to process it. This is because GAA normally creates acid alpha-glucosidase, an enzyme that breaks down glycogen, a complex sugar that can provide cellular energy. So with Pompe disease, muscles, tissues, and organs do not get enough fuel and have difficulty functioning. Without treatment, Pompe disease can be life-threatening.

There are three major types of Pompe disease:

  • Classic infantile-onset – Those with this subset show symptoms within a few months of birth. Symptoms include an enlarged liver, breathing issues, heart problems, reduced muscle tone, and muscle weakness. If left untreated, symptoms become fatal within 2 years.
  • Non-classic infantile-onset – Symptoms usually appear by the age of one. These symptoms include slow motor development and progressive muscle weakness. Infants with non-classic infantile-onset Pompe disease are less likely to have heart failure.
  • Late-onset – Symptoms can develop from late childhood through adulthood. This is often a milder disorder compared to the infant forms. Patients with late-onset Pompe disease are also less likely to have heart problems. However, one large symptom is progressive muscle weakness, which could cause respiratory issue.

Learn more about Pompe disease here.

Pressing Questions

Some research and case studies suggest that pregnancy can complicate Pompe disease, and vice versa. In fact, muscle weakness and respiratory issues can become worse during pregnancy.


But can you become pregnant? Absolutely! People with Pompe disease can become pregnant, safely deliver, and have healthy babies. However, doctor-patient communication is crucial during this time. Symptoms can worsen or suddenly develop. Having a care plan in place can mitigate these.

Does Pompe disease and pregnancy carry any risks? Someone with Pompe disease may experience more bodily stress during pregnancy. This is because, during pregnancy, bodies go through a lot of changes! Instead of just supporting one person, the body is now supporting fetal growth, providing important nutrients, and ensuring the baby develops properly. There is little research on Pompe disease and pregnancy, including on how treatment impacts pregnancy. Once again, close communication with doctors is recommended.

Can a baby inherit Pompe disease? The short answer: yes. However, just because you or your partner have Pompe disease does not automatically mean that your baby will inherit it. Both partners being tested can give a better understanding of risk. Genetic testing can also be performed on the fetus prior to birth using either:

  • Amniocentesis – inserting a needle into the uterus to collect amniotic fluid, which can be used for genetic testing (since it contains the baby’s DNA).
  • Chorionic villus sampling – collecting a sample of placenta through the cervix or abdomen.


Should you take any precautions? If you have Pompe disease, there may be precautions to take during pregnancy or the birthing process. However, it will depend on your specific situation. As such, speak to both your PCP and OB/GYN. Questions to ask include: Should I keep a log of my symptoms? If so, what / how often should I log them? When should I inform you on symptoms? How should I handle medication changes?

What happens after birth? Congratulations, you’ll have a baby! Questions to ask your doctor include whether the baby should undergo genetic testing, and whether medication needs to be changed if breastfeeding.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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