Living with Neurofibromatosis
A genetic condition that causes tumors to grow in the nervous system, with three types.
Understanding Neurofibromatosis
There are three types, each with different signs. NF1 causes skin changes, bone differences, optic gliomas, and tumors on nerves or under the skin, usually present at birth. NF2 causes acoustic neuromas, hearing loss, ringing in the ears, poor balance, brain and spinal tumors, and early cataracts. Schwannomatosis is the rarest type and causes schwannomas, pain, numbness, and weakness.
Signs & symptoms
GARD describes different features for each type:
- Café-au-lait spots and freckling (NF1)
- Tumors on nerves or under the skin (NF1)
- Hearing loss and ringing in the ears (NF2)
- Poor balance (NF2)
- Pain, numbness, and weakness (schwannomatosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Tumor Foundation, Neurofibromatosis Midwest and Neurofibromatosis Network may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Children's Tumor Foundation, Neurofibromatosis Midwest, Neurofibromatosis Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Tumor Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
All three types are inherited in an autosomal dominant manner, which means one changed copy of a gene can be enough to cause it.
Also known as: acoustic neurofibromatosis; central neurofibromatosis; clinical neurofibromatosis; multiple neurofibromatosis; neurofibromatosis syndrome; nf - neurofibromatosis
Patient organizations
- Children's Tumor FoundationNeurofibromatosis · United States
- Neurofibromatosis MidwestNeurofibromatosis · United States
- Neurofibromatosis NetworkNeurofibromatosis · United States
- Neurofibromatosis NortheastNeurofibromatosis · United States
- NF CollectiveNeurofibromatosis · United States
- Littlest Tumor FoundationNeurofibromatosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurofibromatosis.
Explore research for Neurofibromatosis
Explore actively recruiting Neurofibromatosis studies with HealthSpark.
Find actively recruiting studies for Neurofibromatosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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