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Identifying Explaining Managing Supporting Consultation Video
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What are my medical options?
Consultation
Hannah's parents ask about who should be involved in her care.
[1:38]
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Expert Interview
Dr. Korf describes ways to manage the disorder.
[2:17]
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Personal Story
Syrel talks about the important relationship she has with her doctor.
[:35]
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Currently, there is no cure for NF1, or any medical or surgical treatment that can reverse or prevent most related complications. Until this is achieved, medical management of NF1 is limited to the early detection of treatable complications: surgery to remove or reduce the size of neurofibromas and the assessment and management of learning disabilities. Anticipation of such problems and prompt intervention greatly improves the outcome of treatment.

In general, a person with NF1 should have a complete medical evaluation at least once a year, done by a physician familiar with the disorder and connected to appropriate medical consultants/specialists who can assist with specific problems found.

During a typical medical evaluation, a doctor will take a medical history and perform physical, neurological and ophthalmologic examinations. Careful attention should be paid to any new signs or symptoms of NF1, especially changes in skin manifestations such as growth of or pain in a neurofibroma.

A child's cognitive development and school progress should be discussed, as early identification of potential learning disabilities related to NF1 is essential for proper intervention. If a learning disability is suspected, your doctor can help you determine next steps, including how to talk with your child's teachers.

All of this applies equally whether NF1 is confirmed or suspected. A child with multiple café-au-lait spots but no confirmed diagnosis is still at risk of developing NF1-related complications, and his or her development should therefore be followed as if the disorder was confirmed to be present.

People often ask if all persons with NF1 should have X-rays, CT scans, or MRI scans. It is generally agreed that any signs or symptoms of neurological problems should be fully investigated, and often that includes obtaining a CT or MRI scan of the brain. The value of such a scan in the absence of signs or symptoms of neurological impairment isn't as clear, and different medical providers may make different recommendations. Some physicians see these additional tests as a way to obtain as complete a picture as possible of a person's NF1. Others feel that they are unnecessary in the absence of symptoms, since it is likely that nothing treatable would be found. Perhaps more important than a consensus in this debate is the need for open discussion between families and physicians about an individual's NF1 and the risks and benefits of these screening tests.

Regular optical examinations are also an important part of managing NF1. There are several important things to watch for in such exams. Lisch nodules, small bumps on the iris of the eye, can help in establishing a diagnosis of NF1. Examining the eye for Lisch nodules requires a specialized tool called a slit lamp and is usually done by a specialist. Lisch nodules, if present, are not medically significant and do not interfere with vision. However, complications relating to optic glioma, or problems with bone structure behind the eye, such as the orbit, may occur in people with NF1, and should be checked for by an eye specialist.