Make the Most of Your Doctor’s Visit When You Have Pompe Disease

Rare genetic diseases such as Pompe disease pose a challenge in effectively communicating your concerns to the doctor.

Here are some tips to make the most of your doctor’s visit.

Make sure you consult the right doctor

Pompe disease is a rare genetic disorder, so not all doctors are adequately trained in its symptoms and management. It is a good idea to consult a clinician who has prior experience in dealing with genetic disorders. You can inquire about such doctors at your local clinic or alternatively, check out these resources for guidance:

• International Pompe Association
• Association for Glycogen Storage Disease
• Metabolic Support UK
• United Pompe Foundation
• Acid Maltase Deficiency Association

Be open about your condition

To a large extent, effective therapy depends on your interaction with the doctor. Never shy away from revealing details to the clinician about the symptoms you have been experiencing.

If you have a child with Pompe disease, make sure to let the doctor know how you’ve been taking care of them at home. At the same time, ensure that your interaction is concise and to the point.

Check your appointment goals

The time spent during a doctor’s appointment is precious, so it helps to be prepared so that important points are not missed during the discussion. Ask yourself what the purpose of the visit is. Have you noticed any changes in your symptoms? Do you feel any medications aren’t working? Are your daily activities being affected by the disease more than before? Make a note of these questions (and the doctor’s answers) in your records for handy reference later.

Maintain proper medical records

Although most modern hospitals have an electronic database containing information about your ongoing treatment, it is important that you maintain a personal medical record for yourself. A proper medical record offers an at-a-glance record of the treatment, including details of current medications and any test results.

If you are traveling out of town or wish to change doctors, a good medical record enables you to quickly explain your medical history and minimize delays.

Also, make sure to include diet plans in your record so that any changes to your diet can be easily tracked.

Get all your doubts clarified

Knowing how to interpret a diagnostic test or understanding the reason for a particular therapy can be useful. Ask your doctor for clarification when in doubt.

If you know that you are allergic to certain medications, make sure to inform your doctor about this during the appointment.

Record the appointment

Voice-recording the conversation on your mobile phone during the appointment can prove to be handy for later reference. Make sure to ask for the doctor’s consent before recording.

Ask for a treatment plan

The treatment of Pompe disease is an ongoing process. A treatment plan sets out information about the disease, treatment goals, concerns, potential side effects, and the costs involved. Ensure that the treatment plan is updated at every visit.

If your child has Pompe disease, it is a good idea to share the updated treatment plan with the child’s school or daycare center so that staffers are aware of the problem and can take precautionary measures.

Last updated: Sept. 11, 2019

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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.