Driving the conversation: Maximizing your doctor’s appointments with Pompe

Last updated April 22, 2024, by Susie Strachan
Fact-checked by Patrícia Silva, PhD

Establishing a strong rapport and proactive communication with your healthcare providers are an important part of managing life with Pompe disease.

By preparing for appointments and fostering open communication with your healthcare providers, you can maximize the efficiency and effectiveness of medical appointments, whether for yourself or as a caregiver of someone living with Pompe disease.

When you are leading the conversation, you are ensuring your concerns are addressed, your Pompe disease management plan is personalized to your needs, and you play an active role in your own care or that of a loved one.

Preparing for appointments

Pompe disease care requires a multidisciplinary approach that may require a round of appointments at a specialist’s clinic. A visit may be physically and mentally tiring for you as a patient or as a caregiver.

Laying the groundwork for a successful visit ahead of time can help you manage its impact and ensure your healthcare needs are met.

Some suggestions to help guide the discussion during appointments:

• Start by compiling your medical records, test results, and other documents related to your condition. This information can give your healthcare provider valuable insights.
• Compile a list of questions, concerns, and symptoms you want to discuss. Organize your list in order of priority so that the most important topics are first — just in case you run out of time to address everything.
• Make notes about the short- and long-term health goals you hope to achieve or treatment options you want to explore.
• Bring a friend or family member to the appointment for emotional support and assistance in remembering important details and questions.

Setting goals for appointments

The objectives of clinic appointments or specialist visits may vary depending on factors such as your Pompe disease type, symptoms, and stage of progression.

Regardless, there are often common goals for each appointment such as:

• an assessment of your or your child’s current health status
• a review of the Pompe disease treatments and adjustments to medications including enzyme replacement therapy (ERT)
• an evaluation of disease progression in the areas of respiratory, neuromuscular, orthopedic, and gastrointestinal symptoms
• recommendations for physical and occupational therapy
• guidance on a healthy diet and safe and effective exercises
• an assessment of adaptive devices such as devices for mobility, breathing, eating, grooming, and communication
• psychological support to help deal with the mental health challenges from living with a chronic condition.

Tracking new symptoms

Being aware of any new symptoms or the progression of symptoms you’ve already been experiencing can be useful when you’re preparing to speak with your healthcare provider.

Some ways to do this are by jotting down notes on paper or a smartphone app and taking photos of physical changes. Suggestions for what to include:

• symptoms, medications, and doses
• side effects from medications
• physical changes to appearance and movement
• changes to muscle weakness, breathing, ability to swallow and communicate.

Fostering dialogue between your child and their doctor

As a child gets older, they will be able to speak more directly with their healthcare providers. Similarly, they will likely want to have a say in sharing their likes and dislikes about healthcare treatments.

There are ways you can help set up positive communication between your child and their doctor and other healthcare personnel.

• Before a medical appointment, outline what to expect in a way that aligns with your child’s understanding. You may want to talk about the Pompe disease symptoms being checked at the healthcare visit and describe diagnostic tests in simpler terms.
• At the appointment, encourage your child to talk with their healthcare providers, including asking questions about procedures and the reasons why they are receiving a certain treatment.
• Some children can benefit from role playing, pretending to be the patient or doctor. Others can learn from visual aids. Use pictures, diagrams, or drawings to help them better grasp medical concepts and treatment plans.
• Ask if your child’s clinic can provide you with a trained professional who works with children and families in healthcare settings to offer emotional support, education, and guidance during medical procedures and appointments. This might be done by a child life specialist, a pediatric nurse or social worker, a child psychologist, or a patient advocate. They can help your child cope with any fears and provide strategies for managing stress.

As a parent and caregiver to a child who has infantile-onset Pompe disease, Keara Engle was happy to see her son Cayden, who was 5 at the time, starting to take an interest in his own healthcare.

A columnist for Pompe Disease News, Engle writes about how Cayden had progressed during ultrasound appointments to look at his heart from crying to being more composed during the procedure.

“Cayden asked the ultrasound tech questions about his heart, such as, ‘What does it look like?’ This query prompted the tech to turn the screen toward Cayden, so he could see for himself,” wrote Engle, adding how proud she was of her son.

Working together on a treatment plan

Collaborating with your doctor to determine the most suitable treatment plan for yourself or your child involves effectively communicating your objectives and asking about treatment options and potential side effects.

It also may involve seeking input from other healthcare professionals to broaden your understanding of Pompe disease.

It can be helpful to learn as much as you can about the main treatment option for Pompe: enzyme replacement therapy, which partly addresses the condition’s underlying causes, as well as about the therapy process itself.

ERT involves an infusion of a lab-made version of the GAA enzyme — which is missing or defective in a person with Pompe disease — directly into the bloodstream. The GAA enzyme normally works to break down a large sugar molecule called glycogen inside cells.

The infusion restores the body’s supply of functional GAA. In turn, excess glycogen is broken down, helping to lessen Pompe symptoms.

You may want to speak with your doctor and other healthcare providers about the best way to prepare for the typically bi-weekly infusions and lifestyle changes you can make to support the ERT process, such as exercising and eating a healthy diet.

To be more active in planning your treatment, consider:

• talking with your doctor about the risks and benefits of treatment options
• taking into account how the proposed treatment plan may affect your daily life, as well as the other people involved in your health such as caregivers and family
• talking about the long-term implications, including how treatment may change over time.

Tackling sensitive topics

Discussing sensitive topics with your doctor can sometimes be challenging, but there are ways to navigate these conversations with confidence and ensure your concerns are heard and addressed.

• Start by first talking about less sensitive topics to establish a comfortable dialogue.
• Be honest about your emotions and what you are experiencing.
• Practice talking about sensitive topics with a family member or friend.

If you prefer, ask your healthcare provider for a private setting to discuss sensitive matters. It may help you feel more at ease.

It’s important to remember that healthcare providers are obliged to maintain confidentiality and cannot share your information without your consent.

Building a trusted patient-provider relationship

Finding a doctor who understands you and your needs can make a significant difference in your healthcare journey. It can help you feel understood, supported, and empowered to make informed decisions about your health.

Building trust is key. When you have trust in your doctor, it can create open and honest communication and encourage you to become an active participant in your healthcare decisions.

It may also give you a sense of satisfaction to know your doctor genuinely cares about your well-being and is committed to helping you navigate living with Pompe disease.

Some suggestions for building trust:

• Stick with your treatment plan between appointments. If you encounter challenges, communicate them to your doctor rather than altering the plan without a discussion. Timely communication potentially allows for adjustments to your treatment plan.
• Request longer appointments when needed to ensure there is enough time to discuss any concerns you have about your health or the health of your child.

When you and your doctor don’t see eye-to-eye

If you encounter communication hurdles, there are ways to try to improve your relationship with your doctor or other healthcare provider.

For example:

• Express your concerns openly and honestly to your doctor. Speak up if you sense communication difficulties or are unclear about your care.
• Ask for clarification if there are concepts or instructions you don’t fully understand.
• Request additional time during appointments if you feel rushed. Or schedule a follow-up visit to focus on the areas you want to talk about in more depth.
• Consider consulting another specialist. Their insights can complement the care offered by your primary doctor.

If you try these strategies and still feel you do not have mutual understanding with your doctor, you may want to look into finding a new healthcare provider whose approach aligns more closely with your needs and preferences.

Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.