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Questions to Ask Your Doctor About Pompe Disease

Reviewed by: HU Medical Review Board | Last reviewed: January 2023

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.1,2

For those with late-onset Pompe disease treatment, a combination therapy has been approved by the US Food and Drug Administration (FDA). This treatment combines enzyme replacement therapy called cipaglucosidase alfa-atga (Pombiliti™) and an enzyme stabilizer called miglustat (Opfolda™). It is approved for adults who have not seen improvement with ERT.3

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?
  • Should I consider the Pombiliti + Opfolda combination therapy?

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.1,2,4

  • 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.

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