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
Born
A Fighter: Part I
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.
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.
Nora
Who?
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.
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.
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.”
“I can’t.”
“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-astrocytoma still,
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.
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.”
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.
I am thankful I was born a fighter.
