Making the Most of Your Doctor’s Visit When You Have Fabry Disease

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by Vaidyanathan |

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Fabry disease is a rare genetic disorder, which can make doctor visits much more complicated. Here are some tips to ensure that your doctor’s appointment is as fruitful as possible.

Ensure you meet the right doctor

Given the rarity of Fabry disease, it is very possible that your regular doctor will not be aware of its symptoms and treatment. Therefore, it is important to consult a specialist trained in Fabry disease. Your local clinic may be able to guide you on this.

You can also check out resources, such as the Fabry Support and Information Group, National Fabry Disease Foundation, and the Fabry International Network, for information and access to support groups.

Express yourself clearly

Your doctor can recommend tests required for a diagnosis, but how well you detail your symptoms goes a long way in helping the doctor reach the right diagnosis.

Make sure that you have a concise and to-the-point interaction, as an unnecessarily long conversation can turn out to be counterproductive. Patients with Fabry disease often experience hearing and vision problems, so it helps to take a family member or a caregiver along to clearly explain the symptoms. Making a list of symptoms and points you want to address also helps, as explained just below.

Note appointment goals

Be prepared before your appointment to make the best use of this time. Ask yourself what you need to discuss. This could be symptoms, medications, how you feel, how your daily activities are being affected by the disease, or questions about your diet. Make a note of these questions (and of the doctor’s answers) so that you have a ready reference during and after the appointment.

It also helps to arrive early — at least 15 to 20 minutes prior to the appointment. Doing so saves you from having to rush at the last minute, and helps you to be more relaxed and converse freely.

Be organized with medical records

Your doctor or clinic might maintain an electronic database of your ongoing consultations. However, it helps to keep a regularly updated personal medical record for times when you need it. This record contains details of your medications and their schedules, and the results of diagnostic tests. Diet is a very important aspect of Fabry disease management, and the record should include information about your dietary plans.

A well-maintained medical record can be extremely useful should you move to a new place and/or change doctors.

Let no doubts linger

A basic understanding of diagnostic test results or the purpose of certain medications is essential. Don’t be shy about asking any questions you may have. Also make sure to indicate, beforehand, any medications that you know you are allergic to.

A healthy interaction conveys a sense of willingness to overcome the challenges of the disease together, and motivates both you and your doctor.

Record the appointment

If your doctor permits, having a voice recording of the appointment can be an extremely useful reference later. Check with your doctor and explain the reason why you think a recording of the session would be useful for you.

Ask for a treatment plan

Treating Fabry disease is an ongoing process. Using a treatment plan, you can have ready access to information about the disease, your concerns, side effects of medications, and even the costs involved at every stage of the therapy. Ask your doctor to design a personalized treatment plan for you, and make sure to bring it with you for every visit.


Last updated: Sept. 12, 2019


Fabry 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.