Preparing for an appointment

Congenital myopathies are often evident at birth. But, the effects of some congenital myopathies may not appear until childhood or later. If this is the case, you'll likely start by seeing your child's pediatrician or a primary care doctor.

What you can do

• Write down any signs and symptoms your child is experiencing. Write down when each symptom began.
• Write down your child's family history, including details from both the maternal and paternal sides of the family.
• Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all of the information provided to you during an appointment. Someone who accompanies you might help you remember the doctor's recommendations.
• Write down questions to ask your doctor.

Your time with your doctor may be limited, so preparing a list of questions may help you make the most of your time together. You might want to ask the following questions:

• What's the most likely cause of these symptoms?
• What kinds of tests does my child need? Do these tests require any special preparation?
• Does my child need treatment? If so, when?
• What treatments are available, and which do you recommend?
• What is the prognosis?
• If I have more children, what are the odds of this condition occurring in them?
• Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting?

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

• When did you first notice the symptoms?
• Can you describe the symptoms?
• When do these symptoms occur?
• Have the symptoms been continuous or occasional?
• Do the symptoms seem to be getting worse?
• Do you have any family history of congenital myopathies?
• Does anything seem to improve your child's symptoms?
• Has your child been growing and meeting developmental milestones as expected?