You'll probably first discuss any concerns with your child's pediatrician or your primary care doctor. Eventually, your doctor may refer you to other specialists, such as a doctor trained in brain and nervous system conditions (neurologist), depending on your condition and complications.
For your first visit, which may take place during a routine well-child visit, it's a good idea to come prepared to make the best use of the time allotted.
What you can do
- Write down a list of concerns, making a note of when you first started having them.
- Bring your child's complete medical and family history with you — or your own if you're the one being evaluated — if your doctor doesn't already have it.
- Compile a list of questions for your doctor, asking about possible causes, treatments, outcomes and next steps.
- Take notes at the appointment to help you remember key points later on.
- Bring photographs of other family members (living or deceased) who you think may have had similar physical findings
What to expect from your doctor
Your doctor is likely to conduct a thorough physical examination and ask you to describe your concerns in detail. Your doctor may also conduct some cognitive tests. Depending on your child's age, your doctor may ask about performance in school.
Some signs and symptoms of neurofibromatosis may not appear until a certain age. Because of this, it may take years to diagnose your condition.
Jan. 03, 2013
- Neurofibromatosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed Oct. 12, 2012.
- Torpy JM, et al. Neurofibromatosis. Journal of the American Medical Association. 2009;302:2170.
- Plon SE. Neurofibromatosis type 1 (von Recklinghausen's disease). http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Evans DG. Neurofibromatosis type 2. http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Dashe JF, et al. Overview of schwannomatosis. http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Schwannomatosis. Neurofibromatosis Network. http://www.nfnetwork.org/understanding-nf/what-is-nf/schwannomatosis. Accessed Oct. 16, 2012.
- Ferner RE. The neurofibromatoses. Practical Neurology. 2010;10:82.
- Find a local chapter. Children's Tumor Foundation. http://www.ctf.org/Chapter-Resources/Find-a-Local-Chapter-or-Affiliate.html. Accessed Oct. 19, 2012.
- Local groups. Neurofibromatosis Network. http://www.nfnetwork.org/nf-community-near-you/local-groups. Accessed Oct. 19, 2012.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 26, 2012.
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