Questions when discussing treatment for NF1

Neurofibromatosis is a group of rare genetic disorders that affect the nervous system and skin.

Neurofibromatosis type 1 (NF1) is the most common type. It is characterized by light brown patches on the skin (called cafe-au-lait macules or CALMs), freckling in unusual areas (like the groin or armpits), and neurofibromas, benign tumors that grow along nerve fibers on or just beneath the skin. NF1 is also associated with complications such as tumors on the optic nerve, bone and spine abnormalities, learning difficulties, and cardiovascular disorders.

About half of people with NF1 also develop plexiform neurofibromas. These are larger nerve tumors that occur outside the brain and spinal cord. Plexiform neurofibromas can affect multiple nerves as well as surrounding tissues and organs. This type of tumor can lead to complications. In some cases, plexiform neurofibromas can become cancerous.

Signs and symptoms of NF1 typically appear during childhood and often progress as a person reaches their teens and early adulthood. Some people with NF1 have signs and symptoms for several years before being diagnosed.

Treatment for NF1

There is no cure for NF1, and treatment is based on a person’s individualized symptoms and needs. A person will work with a multidisciplinary team of healthcare providers with different specialties. The goal of treatment is to address symptoms, prevent complications, improve quality of life, and provide support to the person with NF1 and their caregivers.

Regular monitoring and screening for new symptoms or changes in symptoms is essential to all treatment plans. This helps a healthcare team identify problematic symptoms as early as possible and prescribe an appropriate treatment.

A treatment plan for NF1 can include:

• Surgery to remove tumors
• Medications to stop or slow tumor growth, or reduce the size and number of tumors
• Cancer treatments, such as chemotherapy or radiation therapy, may be used for tumors that affect the optic nerve or brain
• Supportive therapies to address complications that affect vision, hearing, and/or mobility
• Treatment to reduce the appearance of cafe-au-lait macules, such as laser therapy
• Counseling and mental health support, including support for caregivers and family members

As a person with NF1 or a caregiver for a person with NF1, it’s important to know that treatment can change over time, and to be prepared to discuss changes in treatment with a healthcare provider.

Here is a list of questions to ask when discussing treatment options.

Questions when discussing a surgical procedure:

• What is the name of the procedure?
• How does this procedure work?
• What is the goal of this procedure?
• What are the potential side effects and risks?
• Do I need any tests or exams before this procedure?
• What healthcare provider will perform this procedure?
• What will the recovery process be like?
• Could the tumor/tumors grow back after removal?
• What will this procedure cost? What will insurance cover? Who can I talk to if I have concerns about the cost?

Questions when discussing other therapies, including medications:

• What is the name of the therapy?
• How does this therapy work to help manage NF1?
• What is the goal of this approach? How will we know it is working? How often will I need to come in for checkups?
• What are the potential side effects? Is there a risk of serious side effects?
• How will this therapy affect my daily life? Are there activities or habits I should avoid or modify?
• Can this therapy interact with other treatments or medications I am receiving? Always tell your healthcare provider about all treatments you are receiving, including therapies for other conditions, over-the-counter medications, and supplements.
• What will this therapy cost? Who can I talk to if I have concerns about the cost?
• How long will I need to take this therapy?

Write down any other questions or concerns you have. Again, NF1 is a different experience for different people, and when it comes to your diagnosis, your best source of information will be your healthcare providers.