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

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

Rare genetic diseases such as adrenoleukodystrophy (ALD) can pose challenges in getting proper care. An essential first step is a fruitful consultation with your doctor.

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

Consult the right doctor

Because ALD is rare, affecting about 1 in 20,000-50,000 people (mostly males) worldwide, finding a doctor who is familiar with its symptoms and treatment approaches may not be that easy.

Your regular clinic is a good place to first inquire about doctors specialized in ALD. Other places to look for assistance are major hospitals in your area, and disease associations such as the Stop ALD Foundation, ALD Life, ALD Foundation, and The Myelin Project.

Prepare well before the appointment

It helps to be well prepared for the appointment. Ask yourself what you want to discuss with the doctor and jot these questions down. They could be related to symptoms you’ve been experiencing, diet plans, ongoing treatments, or planned schedules for daily activities.

Arriving 15 to 20 minutes prior to a scheduled appointment helps in avoiding stress, and gives you time to review your questions so you go into the consultation feeling more relaxed and ready.

Speak your mind

An open conversation between you and your doctor is key for a successful treatment strategy. Don’t be shy about asking questions, even if the answers seem obvious. If you are accompanying a child to the appointment, make sure the doctor understands the child’s school requirements and current symptoms and treatments, all of which are part of a good treatment plan.

Try to keep your conversation concise, but cover as many important points as possible.

Ask for a treatment plan

A treatment plan is a comprehensive document of all aspects pertaining to a disease and its treatment. It also contains information about required follow-ups and potential side effects of medication. Ask your doctor to create a personalized treatment plan for you that serves as a ready overview of your disease. For children, share this plan with their school, so officials and teachers there are aware of necessary precautions to be taken, things to watch for, and so they can adjust the child’s curriculum accordingly.

Maintain proper medical records

The importance of having an up-to-date personal medical record cannot be over-emphasized, and you should take it with you to consultations. A good medical record provides an overview of all details pertaining to treatment, and can be very useful if you change doctors or move to a new place.

Be sure to express your concerns

Not everyone responds to treatments in the same way, so be sure to let your doctor know what medications you are using and any side effects you have experienced. If you are skeptical about the effectiveness of a therapy for any reason, let your doctor know. An alternative may exist. The more open you are about your concerns, the better are your outcomes.

Record the appointment

It may not be always possible, but a voice recording of the appointment can be an extremely useful reference. It’s easy to forget specifics, especially when covering a number of topics. Be sure to ask for the doctor’s consent before recording the appointment, explaining why you think it useful and how you will use it. If a recording is not possible, having an adult accompany you to take notes of the discussion is also helpful.


Last updated: Sept. 19, 2019


Adrenoleukodystrophy 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.