NF2 Awareness Day Date in the current year: May 22, 2025

Neurofibromatosis (NF) is an umbrella term for three genetic conditions that cause non-cancerous tumors to grow in the nervous system. Each type of NF is caused by a mutation in a different gene and has unique symptoms.

Neurofibromatosis type II, also known as MISME (multiple inherited schwannomas, meningiomas, and ependymomas) syndrome, is caused by a mutation on chromosome 22 that affects the gene encoding merlin, a tumor suppressor protein that regulates the activity of several growth factors. The mutation causes merlin to lose function and leads to increased activity of the growth factors it normally regulates, causing tumors. It is a rare disease affecting approximately 1 in 30,000-60,000 people.

The main characteristic of NF2 is the development of bilateral benign tumors on the nerve sheath of the eighth cranial nerve, also known as the auditory vestibular nerve, which carries sound and balance information from the inner ear to the brain. These tumors are known as acoustic neuromas or vestibular schwannomas. In addition, other benign tumors may develop in the brain and spinal cord, including ependymomas and meningiomas.

Symptoms of NF2 usually manifest in adolescence or early adulthood, although they can occur at any age. They can vary in severity depending on the location and growth of the tumors. Common symptoms include tinnitus (ringing in the ears), progressive hearing loss, balance problems, weakness or numbness in the limbs, vision problems, and seizures. NF2 is a progressive disease, meaning that symptoms get worse over time.

There is no cure for NF2. Treatment usually involves surgical removal of the acoustic neuroma and the use of assistive technology to compensate for hearing loss. Cochlear implants only work if the cochlear nerve is still functioning; if the nerve damage caused by the tumor is too extensive, an auditory brainstem implant (ABI) may help. Implanting an ABI is a complex procedure that requires a craniotomy, and the outcome is not guaranteed. Most NF2 patients with an ABI are able to detect the presence of environmental sounds and speech, but require lip-reading to understand speech.

The prognosis for NF2 varies widely among individuals, but patients with this type of neurofibromatosis usually have a shorter-than-normal life expectancy because tumors can cause damage to nearby vital structures, such as other cranial nerves and the brain stem.

NF2 Awareness Day is observed annually on May 22, five days after Neurofibromatosis Awareness Day, which is dedicated to all types of neurofibromatosis. This date was chosen because May is Neurofibromatosis Awareness Month and NF2 is caused by a mutation on chromosome 22. It was decided to create a separate awareness day for NF2 because it is less common than NF1 and therefore receives less attention. The main goal of the observance is to promote research into new treatments, including gene therapy.