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Why I've Accepted the 40-Year Journey to Receive My Rare Diagnosis


I remember the day I couldn’t see out of my left eye. I became obsessed with waving my hand in front of my face, searching for the sweet spot where I could make it disappear.

Earlier that year I suffered through a bout of idiopathic uveitis. Believing
it had returned, I went to the ER expecting to be given a script for steroid
eye drops and then be on my way. Wrong! I was told that my optic nerve was
swollen. Apparently that’s a big deal, so I was admitted.

An MRI, CT scan, spinal tap (try to never need one) and blood work didn’t yield any 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
found something of interest on my MRI — a tumor on my trigeminal nerve.

He wasn’t overly concerned, the tumor was small (size of a pea) and I showed no signs of motor difficulties (thankfully he didn’t ask me to do a cartwheel.) He casually mentioned neurofibromatosis type 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 looked it up in our old Encyclopedia Britannica. I remember reading the serious sounding description. I thought, “Really, they think I have that!?”

Diagnosing NF1 relies on strict physical criteria, and while I did not meet all of the criteria to receive a diagnosis, I had enough 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.

Usually children are diagnosed by the age of 10. I was 29.

The local children’s hospital had an NF clinic, but it seemed resources for adults with NF didn’t exist. Since there is no cure, wouldn’t children with NF grow up to be adults with NF? Where do they go? At this point, all I knew about NF1 was: it’s a genetic disorder, it can cause bone deformities
and tumors, and if I have it, I probably shouldn’t have children, for fear of
passing it on. I was frustrated.

About a year later I moved. I found a new neurologist and while he knew of NF1 (which is amazing in of itself), he pooh-poohed 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 thinking and put NF1 on the back burner.

A few years went by and not without excitement; eventually I had to have brain surgery for my tumor (a story for another time) and I was diagnosed with Crohn’s disease, which I have written about for The Mighty. More 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. I broke up with Dr. ‘Pooh-pooh’ and we found an NF clinic at 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 years later, my geneticist informed me the lab at University of Alabama had a very reliable genetic blood test for NF1; she said it would be perfect for a difficult to diagnosis case like mine. We shipped a sample of my blood.

On September 22, 2005, at the age of 40, I received my official diagnosis of NF1 — 11 years after it was first suspected.

I wasn’t surprised; I was relieved.

I thought, “Yes! Finally, we are done playing around. No more ‘maybes.’”

Looking back, I recall a few interactions with the medical community (prior to being 29) that NF1 might have been suspected. I do not fault or blame anyone for missing it, 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.

I am thankful someone was curious to suspect it and wanted to get it right.

I am thankful for the tireless work of researchers who made the genetic testing possible, which would ultimately lead to my diagnosis.

I am also thankful to have convenient access to an NF clinic.

Through social media, I have found other adults with NF1 diagnosed later in life. It is reassuring to know that I am not alone.