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Preparing for your appointment
By Mayo Clinic staffIf it's suspected that you or your child has Noonan syndrome, you're likely to start by seeing your primary care doctor or your child's pediatrician. However, depending on the signs and symptoms, you or your child may be referred to a specialist. For example, if you or your child has signs and symptoms of heart disease, you'll likely be referred to a cardiologist or a pediatric cardiologist.
Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
- Write down any symptoms you've noticed, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Make a list of any medications, as well as any vitamins or supplements, that you or your child may be taking.
- Write down questions to ask the doctor.
Your time with the doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For Noonan syndrome, some basic questions to ask your doctor include:
- What's the most likely cause of these symptoms?
- Are there any other possible causes?
- What kinds of tests can diagnose Noonan syndrome?
- What other problems might occur because of Noonan syndrome?
- What's the best course of action for treating Noonan syndrome?
- What are the alternatives to the primary approach that you're suggesting?
- I or my child has other health conditions. How can we best manage these conditions together?
- Are there any restrictions that I or my child needs to follow?
- Should I see a specialist or take my child to a specialist?
- Are there any brochures or other printed material that I can take with me? What websites do you recommend?
- If the diagnosis of Noonan syndrome is confirmed, is there a support group or parent support group in my area?
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 or your child begin experiencing symptoms?
- Have your or your child's symptoms been continuous or occasional?
- Does anything seem to improve your or your child's symptoms?
- Does anything appear to worsen the symptoms?
- Do you have any family members who've had congenital heart disease, bleeding problems or short stature?
- Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
- Van der Burgt I. Noonan Syndrome. Orphanet Journal of Rare Diseases. 2007;2:1.
- Allanson JE. Noonan syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=noonan. Accessed Nov. 16, 2010.
- Allanson JE. Noonan syndrome. American Journal of Medical Genetics. 2007;145C: 274.
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