When Your Child Has Neurofibromatosis Type 1 (NF1)

When Your Child Has Neurofibromatosis Type 1 (NF1)

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When Your Child Has Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1 (NF1) is a condition that involves the abnormal growth of pigment cells in the skin and of nerve cells in the body. NF1 is usually not life threatening. However, complications such as seizures, developmental delay, or increased risk of tumors can occur over time. Your child’s healthcare provider will tell you more about your child’s condition and treatment options for your child. Outline of teen boy with right arm raised, seen from the side. Small brown spots are in boy's armpit. Three large brown spots are on boy's chest and abdomen.

What Causes NF1?

NF1 is caused by an abnormality (mutation) in genes that affect nerve growth. This mutation can occur by chance. It can also be passed down in families. If a diagnosis is confirmed, parents and siblings should be evaluated for the condition as well.

What Are the Symptoms of NF1?

Symptoms for NF1 include:

  • Skin lesions, such as light-brown (called café-au-lait) spots or freckling in the underarms and groin. These skin lesions are not harmful to health. But they may cause a child to feel self-conscious.

  • Tumors on or under the skin that form along certain nerves, especially the optic (eye) nerve or spinal nerves. Tumors can also form in the brain and other body areas. The tumors are usually benign (non-cancerous).  But, in certain locations, tumors can cause serious complications that need treatment.

  • Problems with bone development, especially along the spine. This may cause scoliosis.

  • Neurologic problems such as headaches or seizures. Developmental delay may also occur including problems with learning, reasoning, or behavior.

How Is NF1 Diagnosed?

Your child will likely see a pediatric neurologist for diagnosis and treatment. This is a doctor who specializes in neurologic problems. If NF1 is suspected, the following may be done:

  • Neurologic exam to check how well your child’s nervous system is working. During the exam, the doctor checks your child’s muscle strength, balance, coordination, and reflexes. He or she also checks skills such as memory, vision, hearing, talking, and swallowing. In addition, the doctor checks for any skin lesions or tumors.

  • Health history to learn more about your child’s symptoms, other health problems, and family medical history.

  • Imaging tests to check for possible tumors and pinpoint their locations.

  • Genetic tests to check for the mutation.

How Is NF1 Treated?

Treatment for NF1 varies depending on your child’s needs. Possible treatments include:

  • Surgery to remove any tumors or correct any skin lesions. In rare cases, tumors become malignant (cancerous). If this happens, other treatments such as chemotherapy or radiation may be needed.

  • Medications to control other health problems such as headaches or seizures.

  • Special educational services to help with any learning problems.

  • Supportive care, such as speech, physical, or occupational therapy.

What Are the Long-Term Concerns?

NF1 is a lifelong condition. But your child can learn ways to manage symptoms and be as active and independent as possible. Regular visits to the doctor are recommended to check your child’s health and to perform routine testing.

Coping with Your Child’s Condition

A positive outlook helps while supporting your child. Encourage your child to be active and to try new things. Consider counseling, which can help you and your child deal with any worries or concerns. And seek help from your friends, community resources, and support groups. The more you learn about your child’s condition and its treatments, the more in control you may feel. For more information about neurofibromatosis, start by contacting the following organizations:

  • Children’s Tumor Foundation, www.ctf.org

  • Neurofibromatosis Inc., www.nfinc.org