NF Awareness Day is Here, and You Need to Know About It

If you’ve never heard of neurofibromatosis (NF), you’re not alone. It affects more than 2.5 million people globally (1 in every 3,000 people). It impacts more people than Cystic Fibrosis, Tay Sachs, Huntington’s Disease, and Muscular Dystrophy combined, and yet you’ve likely heard of one or more of these diseases. Neurofibromatosis, however, is the unheard of disease that desperately needs our attention. Without awareness, it’s challenging to raise funding for NF to help find a cure.

I, too, had never heard of NF until I found myself sitting in the pediatrician’s office having my daughter’s skin checked. I assumed her eczema had gotten worse when the doctor said the word I’d never heard before but will never forget. Neurofibromatosis. It doesn’t flow off the tongue, but it does stick in your head when it’s your child sitting on the exam table.

I did what any of us would do and Googled what it was, what the symptoms were, and what treatments were available. The words NO CURE leaped out at me from the screen. There is, at present, no cure to end neurofibromatosis. While symptoms and severity differ among patients, awareness is needed to help find a cure for this disease.

What Is Neurofibromatosis?

According to the National Institute of Neurological Disorders and Stroke,

“Neurofibromatosis is not a single medical disorder but refers to three different conditions involving the development of tumors that may affect the brain, spinal cord, and the nerves that send signals between the brain and spinal cord and all other parts of the body.”

It includes NF1 (formerly known as von Recklinghausen disease, the one my daughter is diagnosed with), NF2, and Schwannomatosis (SWN). NF1 is the most common variation. While about half of those diagnosed are born with NF1, the other half seem to develop it due to a genetic mutation, which can then cause the disease to be inherited going forward. NF2 is less common and involves slow-growing, benign tumors of the brain, nerves, and spine. SWN is the rarest of these conditions.

Signs and Symptoms of NF1

• 6 or more “cafe au lait” spots (light brown “birthmarks” on the body)
• Groin or armpit freckling
• Pea-sized bumps on the skin (neurofibromas)
• Growths on the iris of the eye
• Optic pathway gliomas
• Short stature
• Large head
• ADHD
• Learning disabilities
• Scoliosis
• Bone deformities
• A parent or sibling with NF

Treatment for NF1

• Surgery
• Chemotherapy for malignant cases
• Medication
• Educational supports for developmental delays and learning disabilities

Signs and Symptoms of NF2

• A parent, child, or sibling with NF2 plus a unilateral vestibular schwannoma (on one side of the body) before age 30
• Vestibular schwannomas (tumors made up of Schwan cells)
• Ependymoma (type of tumor located inside spinal cord)
• Meningioma (type of tumor in the tissue surrounding the brain and spinal cord)
• Problems with nerve function
• Juvenile cataract or retinal abnormalities.

Treatment for NF2

• Surgical intervention

Signs and Symptoms of SWN

• Chronic pain
• Numbness, tingling, weakness in extremities
• Loss of muscle function
• Any signs and symptoms of NF2

Treatment for SWN

• Surgical intervention is sometimes recommended

Research and clinical trials are studying the disease and looking for cures to end NF. A cure could impact 100 million Americans — 65 million living with cancer and 35 million with learning disabilities. While NF was once associated with the Elephant Man, researchers now believe he actually had Proteus Syndrome.

Until my family was impacted by NF, I had never even heard of it. Now that I have, I’m doing what I can to raise awareness. May is NF Awareness Month. On May 17th, we’ll be wearing blue and green to help raise awareness in honor of NF Awareness Day. In October, we’ll be participating in a walk to raise funds for NF research to help find a cure and shine a light on neurofibromatosis.

You may never have heard of NF before. Now that you have, what will you do to help find a cure and end NF?