Back in 1997, my family and I sat inside the neurologists’ office at the Children’s Hospital of Philadelphia (CHOP) and waited patiently for the results of my son’s global medical evaluation. There were tests to order more tests; cognitive, physical, neurological, biological, and psycho-educational assessments were performed. We were hopeful for answers.
It had been a long journey. Prior to being referred to CHOP, we met with any local doctor that would see us, or perhaps, offer a diagnosis for why my son was not reaching his milestones. Their response was always the same; “I don’t know, let’s run another test.” At the time, it appeared our son was suffering from a very rare disease. We would soon learn this was not the case at all.
I remember that fateful day very clearly. After the testing was complete, we were ushered into a large conference room. It seemed odd at the time being in a room the size of a small classroom. Then, eight doctors of various disciplines came in and sat down. My heart pounding as I listened. Each doctor offered his or her opinion and reported that many of the tests were “positive.” What kind of word was that— “positive”—was that good or bad—it was all a blur at the time.
But then I heard it–Neurofibromatosis–a word I had never heard before.
I couldn’t tell you much about what happened after that. It was overwhelming. We were given plenty of resources and support. The chief neurologist handed me a letter with a clearly defined diagnosis and advised me to keep it in a safe place; my son was going to need that letter to receive school-based services—something he had not yet been able to get.
The waiting was over. I felt relieved, and dare I say, a bit liberated. Up until now, I wasn’t even sure if my son could hear or see me; although, I knew he couldn’t talk—or wouldn’t. Either way, it was a challenge I planned to fix. Life as I knew it would be easier now. We could finally get help for him and for our family.
My story is not unlike many others who suffer from this dreaded disease. Historically, Neurofibromatosis is difficult to diagnosis because there are other conditions involved. In my son’s case, previous doctors were convinced he had Cerebral Palsy because of the severe motor skill delays. A few others thought he was deaf, and of course, being the obvious reason he couldn’t talk. Ugh! Still another doctor—I mean “quack”— suggested I get counseling to deal with my severely “mentally retarded child.” (He literally said that!–Did I mention quack?)
May 17 is Neurofibromatosis Awareness Day
May 17 is bittersweet because, ironically, people who suffer from this dreadful disease want people to notice them. Calling attention to their bodies is something many people suffering from NF usually do not want to do. Ambitious spokesperson for NF, Libby Huffner, has appeared numerous times on the daytime TV show The Doctors and says, “If we’re not seen, we can’t be heard.” Although many are stricken with tumors and fibromas, this annual awareness day brings hope for a long awaited cure.
Not about the “bumps”
People regularly suffer significant pain, such as the case of my son, who also has tumors on his spine, brain, and sciatic nerve. Surgery is risky and there are no guarantees that anyone’s tumors won’t grow back.
But the pain is not always noticeable until you look into their eyes.
The stares and humiliation caused by the actions expressed from society is so unbelievably obnoxious one would wonder how people with NF manage the emotional turmoil.
The truth is, people with NF need friends. Socializing tends to be difficult; sometimes it is near impossible to have good quality friendships or perhaps any at all—and truth be told, people with NF are great people! They are the most compassionate, helpful, and friendly people I know; also, as in the case of my son—a willing participant to any friend in need.
People who have NF need love just like anyone else; they too, have goals and dreams, but most of all, they have feelings—words hurt. It is an emotional struggle which outsiders simply cannot understand.
A Day of Hope–Not A Celebration
May 17 is a day that anyone with NF looks forward to. Not because there will be parties and balloons, but because there is added focus on the physical pain and emotional suffering these people must endure. Every. Single. Day. It is a way to bring added focus, and hopefully, find a cure.
Research
People diagnosed with NF are encouraged to sign-up for the NF Registry at the Children’s Tumor Foundation’s website.
In the meantime, John Hopkins Medical Center in Maryland has patient resources and support groups, but still no cure. We pray they will find one soon.
Information & Facts
Types of Neurofibromatosis (NF1-NF2-Schwannomatosis)
Neurofibromatosis is a disease, either genetic or spontaneous, where mostly 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!
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 or NF2 appears in approximately 1 in 3,000 births. NF1 being the most common but not necessarily the easiest. Each type has many of the same symptoms and challenges, but usually are more pronounced with NF2.
Schwannomatosis is rarer affecting 1 in 40,000 people who might have large visible tumors and usually an enormous amount of pain.
Symptoms
Tumors develop under the skin and will present as small bumps but some people may not show any other symptoms. Others will have very large painful schwannomas but few bumps.
There are other significant challenges for anyone diagnosed with Neurofibromatosis. This is not an exhaustive list and many of these symptoms vary with each individual.
Hearing loss
Learning disabilities
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
Chronic pain
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. Without a clear diagnosis, students with NF will not qualify for an Individual Education Plan (IEP). Even then, many of the challenges, such as reading, are overlooked.
Employment
People with NF want to be independent 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 willing to hire someone who wasn’t able to successfully complete the employment application or pass a pre-interview assessment; hence, the “learning disability” part of NF.
Many with NF look perfectly “normal,” whatever that is, but inside, have mild to severe cognitive delays. They struggle whether or not to disclose their disability. This is extremely frustrating for both the employer and the applicant.
How can I help? Make NF Visible by donating to find a cure.
