In Oct of 2013, two months before my first child was to be born, I was told by some of the finest doctors in my state that I likely had astrocytoma, a form of brain cancer. At that time I was being hospitalized for severe vision problems, (everything from vision loss to what I called hallucinations). Up to this point I had undergone two brain biopsies that were only able to detect scar tissue and inflammation.
My health issues started in July of 2012 when I had a seizure while I was working at the computer. I noticed a strange visual phenomenon, almost like a pin point of light, stuck in the center of my visual field, and I immediately became disoriented and nauseous. The next thing I remember is being found by my wife in a state of confusion and bleeding from my mouth. Later that evening in the ER, doctors would confirm that I had experienced a tonic-clonic seizure. I’d also dislocated my shoulder and had bitten my tongue so hard that a grape sized hematoma had formed which prevented me from speaking and eating solid foods for about two weeks.
An MRI of my brain done at the time showed a tiny spot in my visual cortex. Within 3 months the spot had grown considerably and a lumbar puncture was ordered which came back normal. I was then sent to a neurosurgeon who suggested that I undergo a brain biopsy, which took place on Feb 20 1013, just before my 38th birthday.
Samples from my biopsy were sent to two different labs for analysis. One lab reported that they detected astrocytes, which are cells that suggested early stage astrocytoma. The second lab only detected inflammation and scar tissue. Immediately after the biopsy I was started on a low dose (2mg a day) of a steroid called Decadron. Because the two labs that analyzed my tissue sample had conflicting results, a second “open” biopsy was recommended where a larger tissue sample could be taken for study.
This second biopsy, performed on April 8 2013, also showed nothing but inflammation and scaring. It was at this point that I suggested to one of my doctors that permanent trap door in my skull may be necessary. I continued on the steroid for three months and follow-up MRI scans showed that the lesions on my brain had mostly cleared up except for one tiny spot. This was a surprise to my doctors.
I was then taken off of the steroid and monitored via MRI to see if these lesions came back, which they did, along with more seizures. As time went by, I started noticing strange visual phenomena. Transparent geometric shapes appeared in my field of view along with hazy or blurry vision, floating objects that looked like confetti. As more time progressed, the visual problems became more extreme and terrifying. I was taken to the ER one morning in late September 2013 in a terrible state of panic and fear. People looked like boxy robots to me, their heads were bent at unnatural angles and they moved and floated as if they were hovering. The doctors at this particular ER had no idea what to do with me and believed I was having some sort of psychotic episode when blood and urine tests showed that I had no illicit drugs in my system. I’m grateful that these extreme hallucinations only lasted for two days but those two days, were the most terrifying and scary of my life.
After speaking with my neurosurgeon, he was confident that the these visual issues were being caused by the still undiagnosed inflammation and that I wasn’t going crazy. I was referred to UCLA for a second opinion where a third biopsy was planned, but not before many more tests were conducted. I underwent a CT-PET scan of my torso, a third lumbar puncture, a cerebral angiogram, as well as a small skin biopsy of what turned out to be rosacea on my forehead. The cerebral angiogram which was supposed to detect vasculitis came back normal. My doctors at UCLA wanted to cover all of their bases before performing my third biopsy which was done just a few weeks ago on Feb 4, 2014. On Feb 10 I was told I had a very rare form of Primary Central Nervous System vasculitis which only seems to affect the small blood vessels in my visual cortex. I’ve been started on 60mg daily of an oral steroid called prednisone. Its was a long and painful year and a half for me but I’m so grateful to finally have a diagnosis and treatment now.
From what I understand, Primary Central Nervous System Vasculitis is the rarest of the rare. Something like 2-3 cases per million. My doctors were almost unwilling to admit it’s what I had. Before my diagnosis, I was referred to by more than one doctor as a zebra – a colloquialism doctors sometime use to describe an unusual patient. As in, “we see horses all the time, but never a zebra.”
Previous posts I wrote before the diagnosis: Part 1, Part 2, Part 3.
Kevin Stanchfield 
I feel for you. My history is somewhat similar.
I started developing headaches around 2009 that started slowly, and kept increasing until I either took something for them or landed up in bed from the pain.
In late 2012 I started seeing a neurologist who helped control the pain with Gabapentin. At that time I got my first brain MRI that also was normal except for a small white spot in the central core of the brain.
In 2013 I experienced my first significant visual episodes. I work on a computer all day and my eyesight all of a sudden looked like I was looking through a shattered windshield. That lasted for several hours for one and overnight for the other. at the time I did not link it to the headaches. Around the same time, I started experiencing icepick headaches that lasted for days at a time. My neurologist was able to manage it with drugs and started more exploring of possible causes. I also developed odd sensitivity on the forehead going to the right into my ear.
In November 2013, I went blind, and experienced confusion and other symptoms. A trip to the ER resulted in mega doses of intravenous prednisone and batteries of tests; LP, MRI, CT, CT-Angio, etc.
The blindness quickly went away with the Prednisone but was followed by weeks of hallucinations, floating colored confetti, things crawling up the walls and people morphing into various creatures. Quite a scary experience.
I was seen by every Neurologist on staff and had tests reviewed by numerous radiologists. The consensus was PCNCV. There was talk of doing a brain biopsy but after being on the Prednisone, the results would not have been conclusive and we opted against it.
Like you, this was a diagnoses that nobody wanted to make definitively due to the extreme rarity of the disease and the difficulty in the diagnosis. Numerous MRI since then continue to show a white mass in the cerebral cortex that is significantly larger than the initial MRI but has been fairly stable since my ER visit.
I have also been referred to the head of Neurology at the Oregon Health Science University, who concurred with the basic diagnosis, with some trepidation.
Recently, we have been working with Chemo and other alternative drugs to wean me off the Prednisone but I recently lost most of the hearing in my left ear. That along with various tinnitus and low frequency sensitivity.
Again the Prednisone was brought up to a high level and the ear seems to be slowly recovering. That is where I am now and hating every minute of dealing with the horrific side effects of Prednisone.
Other thoughts that have been ventured are Susac Syndrome and MS although it would be a non classic case. Just this week I was referred to a Neuro-Opthalmalogist to check the optic nerves. That was negative for an eye problem which re-enforces the original diagnosis.
Zebra….. I can relate. I get the distinct impression that my doctors see this as a fascinating challenge and a departure to their day to day routine. The only good thing I can say is that 30 years ago, this disease was unknown and the 5yr survival rate was less than 20%.
I wish you well, and good luck managing this and perhaps of finding a cure at some point.
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