May 17 is World Neurofibromatosis Day

Neurofibromatosis, is a genetic disorder in which benign tumors grow within the nervous system. These tumors could be anywhere in the body, including the brain, and spine but not limited to the feet–ouch!

This is a rare, (but not really), disease. Neurofibromatosis may actually only seem “rare” because not many people are aware of its existence. That’s why the month of May is so very important; Neurofibromatosis Awareness Month.

Types of Neurofibromatosis (NF1-NF2-Schwannomatosis) 

Three levels of this disease have many of the same problems. These cells originate in the “supporting cells” and all strike the nervous system, but the difference is where the cells start; either at the peripheral nerve or in the Schwann cells.

NF1, NF2 strike approximately 1 in 3,000 to 4,000 births. NF1 being the most common but not necessarily the easiest. Each type has many of the same symptoms and challenges, but with NF2 most are more pronounced.

Schwannomatosis, is even more rare affecting 1 in 40,000 people who might have very large visible tumors and usually an enormous amount of pain.

Symptoms

Tumors develop under the skin and will present as small bumps; some people have hundreds of them. Fortunately for some, they have only a few. Nevertheless, the bumps are only one symptom of this horribly disfiguring disease. Others will have very large painful schwannomas but few bumps.

There are many significant challenges for anyone diagnosed with Neurofibromatosis. This is not an exhaustive list and keep in mind, that depending on the diagnosis, many of these symptoms vary with each individual.

Hearing loss
Learning disabilities
Pain
Scoliosis
Growths on the iris (Lisch nodules)
Tumor on the optic nerve
Cafe-au-lait spots
Freckling in the armpit or groin
Glioma
Meningioma
Schwannomas
Cataracts
ADHD
Bone deformity

Day-by-day

I mentioned earlier this is not really a “rare” disease because there might be more people walking around with it than one might guess. Most of these symptoms are internal and many are literally hidden under clothing. Many people are so disfigured and stricken physically, they do not even leave their house.

Prognosis’ are all very involved and many people suffer significant pain on a daily basis. But the pain is not always noticeable until you look into their eyes.

The fact is, the humiliation of the actions expressed by others’ is so unbelievably obnoxious, one would wonder why there isn’t more of a push for a cure. Pain management and surgery are really all that is currently available.

Education

Children are especially vulnerable because most times, the physical symptoms don’t appear until the late “teenage” years, however; the learning disabilities are evident from birth. This is ridiculously challenging because NF is hard to diagnose early on. Without a clear diagnosis, students will not be able to receive school-based services and resources. Here we go with that famous “red-tape” that I love to hate.

Employment

Even with all the challenges, people with NF are ready, willing, and able to work, and support themselves. The challenge is securing a job. If employers are not immediately turned off by a person’s physical appearance, they might not be so willing to hire someone who may not have been able to complete an application properly or pass a pre-interview assessment; hence, the “learning disability” part of NF. Many with NF look perfectly, “normal” whatever that may look like, but inside, have mild to moderate neurological delays.

This can be extremely frustrating for both the employer and the applicant; to disclose or not disclose a disability. 

Support in all the right places 

The truth is, people with NF need friends. Socializing with people anyway might send some introverts running, but with NF, sometimes it is near impossible to have good quality friends or any at all for that matter; especially when there is not a complete understanding of the disease.

People who have NF are the same as anyone; they too, have feelings, ideas and dreams.

There are some research facilities that study NF but so far there is no cure. This is really very sad, because I happen to know one really great guy who just wants to be like everyone else, and he is. Ironically, the world just doesn’t see it the same way.

 

 

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