They say it is the most common disorder no one has heard about. It causes tumors to grow throughout the body that can lead to deafness, blindness, disfigurement, bone abnormalities, learning disabilities, disabling pain, and sometimes, cancer. It is genetic and affects 1 in 3,000 people. It does not discriminate and occurs in all populations equally. It is more prevalent than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined. There is no cure yet.
It is called Neurofibromatosis.
Neurofibromatosis (NF) is a term for three genetic disorders: NF1, NF2, and schwannomatosis. NF1 is the most common type (1 in 3,000 people occurrence) and is usually diagnosed in childhood. It is characterized by small benign tumors on or under the skin and six or more cafe-au-lait spots on the skin. NF2 occurs in 1 in 25,000 people, usually diagnosed in young adulthood and typically diagnosed with the onset of tinnitus (ringing in the ears) or hearing loss, which is a result of benign tumors forming on the vestibular nerve in the brain. Many NF2 diagnosed patients may also develop cataracts and other eye abnormalities, although these are usually treatable. Schwannomatosis is the least common type of NF (1 in 40,000 or less) and benign tumors, or schwannomas, may develop anywhere in the body. Usually diagnosed in adulthood, these tumors may cause pain to be difficult to manage.
The Children’s Tumor Foundation (CTF) was found in 1978 and began as the first organization solely dedicated to finding effective treatments for NF by funding research and promoting collaboration between scientists in the field. CTF strives to improve clinical care for patients with NF by encouraging the development of NF clinics. Since the tumors can grow anywhere in the body, it may affect many different bodily systems and multiple medical specialists may be required for patient care. NF dedicated clinics provide coordinated care because the specialists are housed in one location and can easily communicate with each other. Since the majority of cases are diagnosed in childhood, these clinics also offer support services for affected patients and families, including youth programs. Clinics dedicated to treating NF can be found here, and we are fortunate to have two NeuroMedicine Hospitals close to Jacksonville — the UF Neurofibromatosis and Neurocutaneous Center in Gainesville and AdventHealth for Children (previously Florida Hospital for Children) in Orlando.
What is the treatment for NF patients?
There isn’t yet a cure for Neurofibromatosis, and historically, when treatment is necessary, options include surgery to remove problematic growths or tumors, medication for associated pain management, radiation and chemotherapy for benign tumors that have turned malignant, physical therapy, counseling, and support groups. Recently, on April 10, 2020, the Food and Drug Administration (FDA) approved Koselugo (selumetinib) the first therapy for pediatric patients, 2 years and older, to treat NF1. Koselugo helps in stopping tumor cells from growing and is approved specifically for patients that have symptomatic, inoperable tumors involving the nerve sheaths (coating around nerve fibers). In May 2020, the CTF announced clinical trials are also underway for NF2. These strides in research not only benefit our NF Heroes but shed new light on brain tumors, bone abnormalities, learning disabilities, and cancer that benefit the broader community.
How can you get involved?
There are many ways to raise awareness to help find ways to end NF, provide support to affected individuals, and raise money for more research. Shine a Light Walk is the signature fundraiser for Children’s Tumor Foundation, aims to bring NF out of the shadows, and is hosted in cities throughout the United States. The 8th annual Jacksonville Shine a Light Walk will take place on Saturday, September 19, 2020, at 9:00 a.m. The year 2020 has introduced many changes regarding health and safety, and Shine a Light Walks all over the country will take place virtually this year to keep NF Heroes, families, and friends safe. Visit shinealightwalk.org/jacksonville2020 to join an existing team or register your own team! Gather your family, friends, neighbors, and co-workers to form or join a team and find a fun place to walk — on the beach, in your neighborhood, even on a nature trail! Join the Facebook event page and check back on race day to see photos and videos of supporters and heroes highlighting what they’re doing to support the fight to #EndNF! Or, you can simply donate here.
If you’re more of the fun and crazy type and the “largest pantless party and mile(ish) run in the nation” sounds exciting, don’t miss Cupid’s Undie Run held each Valentine’s Day weekend — a one-mile fun run where participants race in their UNDERWEAR! CTF also has an NF Endurance Team where members participate in marathons, triathlons, bike races, 10K and 5K runs to raise money and increase awareness for NF.
Dealing with a genetic disorder diagnosis such as neurofibromatosis can be hard. Symptoms are different for each person and it’s impossible to predict how mildly or severely affected someone will be. The current lack of a cure doesn’t make things easier, but recently approved treatments and clinical trials offer a promising future for NF Heroes. Get the facts, get support, and get involved and you can bring a disorder out of the shadows and help #EndNF.
For more information about Koselugo (selumetinib), click here for safety, prescribing, and patient information. To learn more about neurofibromatosis, please visit ctf.org. To make a donation to support the fight to #EndNF, please click here.
