Neurofibromatosis type 1

Diagnosis

To diagnose neurofibromatosis type 1 (NF1), a healthcare professional begins with a review of your personal and family medical history and a physical exam.

Your child's skin is checked for cafe au lait spots, which can help diagnose NF1.

If other tests are needed to diagnose NF1, your child may need:

• Eye exam. An eye exam can reveal Lisch nodules, cataracts and vision loss.
• Imaging tests. X-rays, CT scans or MRIs can help identify bone changes, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas.
• Genetic tests. Genetic testing for NF1 can help support the diagnosis. Genetic tests also can be done in pregnancy before a baby is born. Ask a member of your healthcare team about genetic counseling.

For a diagnosis of NF1, at least two symptoms of the condition must be present. A child who has only one symptom and no family history of NF1 is likely to be monitored for any other symptoms. A diagnosis of NF1 is usually made by age 4.

Treatment

There isn't a cure for neurofibromatosis type 1 (NF1), but symptoms can be managed. Generally, the sooner someone is under the care of a specialist trained in treating NF1, the better the outcome.

Monitoring

If your child has NF1, often yearly age-appropriate checkups are recommended to:

• Check your child's skin for new neurofibromas or changes in existing ones.
• Check for signs of high blood pressure.
• Check your child's growth and development. This includes measuring height, weight and head circumference to compare to growth charts for children who have NF1.
• Look for signs of early puberty.
• Look for any skeletal changes.
• Check your child's learning development and progress in school.
• Get a complete eye exam.

Contact your healthcare team right away if you notice any changes in symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early.

Medicine

Selumetinib (Koselugo) is a treatment approved by the U.S. Food and Drug Administration for plexiform neurofibroma in children. The medicine can shrink the size of a tumor. Clinical trials of similar medicines are currently being done for children and adults.

Surgery and other procedures

Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs.

Cancer treatment

Cancers related to NF1 are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors for a good outcome.

Potential future treatments

Researchers are testing gene therapies for neurofibromatosis type 1 (NF1). Potential new treatments could include replacing the NF1 gene to restore the function of neurofibromin.

Coping and support

Caring for a child with a condition such as neurofibromatosis type 1 (NF1) can be a challenge. But many children with NF1 grow up to live healthy lives with few, if any, complications.

To help you cope:

• Find a healthcare professional you can trust and who can coordinate your child's care with other specialists. The Children's Tumor Foundation has an online tool to help you find a specialist in your area.
• Join a support group for parents who care for children who have NF1, ADHD, special needs or lifelong illnesses.
• Accept help for daily needs such as cooking, cleaning or caring for your other children or simply to take a needed break.
• Seek academic support for children who have learning disabilities.

Preparing for your appointment

You may be referred to a doctor who specializes in brain and nervous system conditions, known as a neurologist.

It's a good idea to be well prepared for your appointment. Here's some information to help you get ready and know what to expect.

What you can do

• Write down a list of concerns, making a note of when you first noticed them.
• Bring a complete medical and family history with you if your healthcare professional doesn't already have it.
• Write down key personal information, including any major stresses or recent life changes.
• Make a list of all medicines, vitamins or supplements that you or your child is taking.
• Bring photographs of any family members — living or deceased — who may have had similar symptoms.
• Write down questions to ask your healthcare professional.

Your time during your appointment is limited. Preparing a list of questions can help you make the most of your time. List your questions from most important to least important in case time runs out. For neurofibromatosis, some basic questions to ask include:

• Do you suspect neurofibromatosis type 1?
• What tests do you recommend?
• What treatments are available?
• How should the condition be monitored for changes?

In addition to the questions that you've prepared, don't hesitate to ask other questions that occur to you.

What to expect from your doctor

You're likely to be asked a number of questions. Being ready to answer them may allow time later to cover other points you want to address. Your healthcare professional may ask:

• When did you first notice symptoms? Have they changed over time?
• Is there a family history of neurofibromatosis type 1?