This year marks the 25th anniversary of the discovery of my brain tumor as well as the 20th anniversary of its removal. All of which helped pave the way to a diagnosis of the genetic condition Neurofibromatosis 1 (NF1.) May is NF Awareness month; to celebrate, I give you the story of tumor discovery, disease suspicion, a craniotomy, and ultimate diagnosis. #endnf #bornafighter
|alan9187 from Pixabay|
February 21, 1994
I remember the day I couldn’t see out of my left eye. I was driving to school and as I glanced at my driver side mirror, it wasn’t there. A big black spot had taken its place. I would go on to spend most of the day waving my hand in front of my face, searching for the sweet spot where I could make it disappear.
Sure, I was concerned but not urgently so. Earlier that year I suffered through several bouts of Idiopathic Uveitis (a swelling of the eye wall), believing it had returned, I checked into the ER expecting a script for steroid eye drops and then be on my merry way. Wrong! Turned out the blind spot was the result of swelling of my optic nerve (papilledema), apparently that’s a big deal; I was admitted.
|Clker-Free-Vector-Images from Pixabay|
Maybe She’s Born with It
An MRI, CT scan, spinal tap (try to never need one), and blood work, yielded no answers; I didn’t even get eye drops! What I did get was a neurologist. While he had no clue as to why my optic nerve was swollen, he discovered something of interest on my MRI; a tumor on my trigeminal nerve.
The tumor was small (size of a pea) and because I exhibited no signs of motor difficulties (thankfully I wasn’t asked to do a cartwheel) he didn’t sound any alarm bells. Instead he asked me to come back in three months for a follow up MRI to look for changes. He explained I might have been born with the tumor or maybe it just popped into my head last week. Only time would tell.
He casually mentioned Neurofibromatosis 1 (NF1) as a possible reason for the tumor. I had never heard of it and he didn’t explain it very well. This being 1994, I had to look it up in our old Encyclopedia Britannica. I remember reading the serious sounding description. I thought, “Really, they think I have that!?” But I never received a definitive answer.
Diagnosing NF1 relies on strict physical criteria and while I did not meet all of the criteria to receive a diagnosis; I had ticked enough boxes that it couldn’t be ruled out. Although many inherit the disorder, up to 50 percent of new cases result from a spontaneous genetic mutation. Because many of the features associated with NF1 develop with age, it may take several years to make a diagnosis.
|NF in a nutshell|
Usually children are diagnosed by the age of 10; I was 29 and hearing about it for the first time.
As luck would have it, the local Children’s Hospital had an NF clinic; however, resources for adults with NF seemed nonexistent. In my handful of visits to the clinic, I never met another adult with NF. Since there is no cure, wouldn’t children with NF grow up to be adults with NF; where do they go? All I knew about NF1 was: it’s a genetic disorder and if I had it, I would be in the spontaneous mutation category. Oh, and I probably shouldn’t have children, for fear of passing it on. I felt frustrated, and sad.
New Digs, New Docs, New Symptoms
About a year later I moved. Knowing I would need an annual MRI of my brain tumor, one of my first orders of business was to find a new neurologist. The doctor I found knew of NF1 (which is amazing in of itself) but poo-poo’d the possibility. His take: even if I did have NF1, it was such a mild case that a diagnosis wouldn’t change the care I was receiving. I went along with his reasoning and put NF1 on the back burner. Never thinking to ask what he found “mild” about a brain tumor.
|ElisaRiva from Pixabay|
After a few uneventful years of stable MRIs my tumor decided to grow a cyst. Even though I was still exhibiting no signs of neurological deficits, my neurologist sent me to see a neuro-surgeon at the University of Maryland Medical Center. It didn’t sink in how serious my situation was until the cyst ramped up its growth and started wreaking havoc. I began to notice weakness on my right side. My face felt numb, I was constantly biting the inside of my right cheek. My right arm rapidly became unusable and my right foot started to drag. The day I was hoping would never come had arrived.
Born A Fighter: Part II
Party Like It’s 1999
While everyone else was jamming out to an old Prince tune from the 80’s, I was making a date with a brain surgeon. I never cried or freaked out about the pending operation, my surgeon told me he could perform the surgery and I believed him. But this was my brain for crying out loud, my goddamn brain! Why wasn’t I freaking out? It was like we were talking about removing a wart from my big toe; it was surreal. After copious amounts of pre-surgical testing, March 18, 1999 was locked in for a craniotomy.
|marionbrun from Pixabay|
Surgery was eight hours, easy for me because I was asleep, a lifetime for my husband and parents. I don’t recall much except for waking just long enough to hear my family tell me I was OK. Oh but I remember the day after surgery. My face was no longer numb and my right arm moved a bit better but my right leg was dead weight.
“Wiggle your toes Kelly.”
“Can you bend your knee?”
“That won’t move either.”
Anyone else might have been freaking out at this point but not me (I was still not freaking out!) My surgeon was confident I would regain the use of my leg with aggressive physical therapy. I spent months in rehab learning how to walk again.
What about NF? Will I be officially diagnosed? Biopsies of my tumor were shopped around the country and the consensus was pilocytic-astrocytomastill, no takers on diagnosing me with NF. Oh well.
Doctor, Doctor, Give Me the News
Some time passed and I started noticing more bumps and tumors popping up on my face, arms, and torso. I asked my PCP to help me re-explore NF1. She found an NF clinic at the Johns Hopkins Hospital in Baltimore. After a thorough review of my history and a detailed physical exam, no one in the clinic felt confident enough to give a yes or no. I couldn’t believe it!
Two more years would go by before my geneticist would inform me of a reliable genetic blood test for NF1 available through the lab at University of Alabama. She said it would be perfect for a difficult to diagnosis case like mine. We shipped a sample of my blood and waited.
|Belova59 from Pixabay|
On September 22, 2005 (at the age of 40) I received my official diagnosis of NF1; a condition I was born with. I wasn’t surprised; I was relieved. I thought, “Finally, no more maybes.”
Looking back, I recall a few interactions (as a teen) with the medical community where NF1 could have been suspected. A lump under my chin, and a café au lait spot on my torso were never perceived as symptoms of anything. Motor difficulties are a sign/symptom of NF1. My cartwheel fail might have piqued the interest of a curious physician or teacher but for the most part, my struggles with coordination were usually shrugged off as, “she just doesn’t apply herself.”
|StockSnap from Pixabay|
While all of that may be, there’s no point getting stuck in ancient history. I do not fault or blame anyone for missing NF, nor do I fault any of the medical professionals that remained on the fence for so long. I didn’t fit into the diagnosis criteria and that’s OK.
Thanks and Praise
I am thankful for the neurologist who first suspected NF and sent me on the road to discovery.
I am thankful for my brain surgeon, Dr. Aldridge. He gave me his undivided attention and explained everything perfectly, he truly saved my life.
I am thankful for the tireless work of the researchers at UAB that made the genetic testing possible that would ultimately lead to my diagnosis.
I am thankful to have convenient access to an NF clinic.
I am thankful for social media as I have found other NF1 patients who received their diagnosis later in life.