Diagnosis: Primary Central Nervous System Vasculitis (pCNSV)

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.

Something’s on my mind: Part 3

(For the full story, see Part 1 and Part 2.)

I was put on Decadron, a steroid, after my first biopsy back in February to reduce inflammation. It now appears that this steroid has caused most of the abnormal signals on my MRIs to clear up, leaving just one tiny spot. We still don’t know however what that spot is. I’m told It could be vasculitis or it could be brain lymphoma.

Because the steroid can “melt away” or reduce lymphoma (not cure it), I’ve been taken off of that drug. The plan now is to see what happens with the remaining spot on my MRI while not taking the drug. I go in for another MRI in three months to find out.

I experienced some serious withdrawal symptoms after going off of Decadron, namely extreme fatigue and joint pain, mostly in my knees but also in my hands, wrists, hips and shoulders. This seems to be common based on what I’ve read on the net.

I did have two more seizures on June 21. One while at home, and a second about an hour later while in the ER. As a result, my neurologist doubled the anticonvulsant medication I’ve been taking. My tongue is still recovering from having bit it again.

I still continue to feel healthy, and don’t have any new symptoms, but having had the two recent seizures does make me feel a little like a walking time-bomb – I hope the Keppra does it’s job.

A Mother’s Determination – Bohring-Opitz Syndrome

This is the story of my sister Sheri and her daughter Eva:

Our 21-month old baby girl, Eva Bermejo, is a frequent visitor to Children’s Hospital Los Angeles. When we first came to the hospital in June 2011, she was six months old, had severe feeding issues, was failing to thrive, had been experiencing numerous unknown respiratory infections and she was not breathing well. We had previously been in and out of other Southern California hospitals, and we had seen several pediatricians and specialists to try to find treatment and a diagnosis for our daughter. Some pediatricians felt that Eva was just fine and others agreed further testing was needed.

Eva was born one month premature on Dec. 12, 2010. I had good prenatal care and several ultrasounds during my pregnancy, which led me to believe that I was going to have a healthy baby girl. When Eva was born, the first thing I noticed was the large heart shaped birth mark on her forehead, long fingers that were tightly clenched in a fist, beautiful blue eyes and a gorgeous full head of hair. Due to mild husky breathing at birth she was sent to the neonatal intensive care unit (NICU) for observation. That first night I spent in the hospital without my baby, I worried about other things being wrong with Eva, other than just husky breathing. The next day I tried to nurse her in the NICU, but upon attempting we noticed that Eva had a high arched palate and a weak suck. We then resorted to feeding by bottle, but Eva would vomit every time we fed her.

On Eva’s third day of life the doctors discovered that she had an intestinal obstruction, which was caused by an annular pancreas. Eva’s pancreas had grown around her duodenum, which was strangling the intestine and preventing digestion. Eva was then transported to a larger hospital with a bigger NICU and a pediatric surgical staff. While Eva recovered in the NICU, the doctors recommended further genetic testing due to the very rare annular pancreas and other physical anomalies that Eva presented. Those anomalies included clenched hands and mild dysmorphic facial features (flattened nasal bridge, small mouth, small jaw, low set ears, mild bulging eyes, and a high arched palate). Upon discharge we were told Eva could have some rare medical issue and were reassured that it was most likely not going to be significant since her chromosome karyotype test was normal.

Read the full article here: http://www.wetreatkidsbetter.org/2012/10/mothers-determination/

Something’s on my mind: Part 2

Post craniotomy scar / incision.

This is a followup post to Part 1. As I mentioned before, after an inconclusive brain biopsy in February, which did not detect any tumor cells, it was recommended that I go in for a second surgery to get a larger tissue sample and hopefully get a solid diagnosis so that treatment could begin. It’s been a little over three weeks now since that second surgery on April 8th and again, no tumor cells were seen. All that was detected again was inflammation (gliosis).

The current running theory is that I may simply have some sort of possibly transitory inflammation that caused my seizure back in July of last year. I still have no other symptoms and haven’t experienced another seizure. My neurosurgeon also mentioned that the lesions seen in previous MRI scans seem to be responding to the steroids I’m now on. The current plan is basically to monitor my situation now with an MRI scan every three months.

It’s been a scary couple of months but it looks like there’s some light at the end of the tunnel. We still don’t know what is causing the scar tissue. Lymphoma is a possibility. I continue to feel healthy, positive and grateful to my family and friends for all of their support, especially my wife Emily who has remained strong throughout all of this. I have to say that I am very grateful to my doctors too, especially my neurosurgeon, Dr. Gantwerker of the The Craniospinal Center of Los Angeles.

Something’s on my mind. UPDATED!

*** UPDATE: The full story is here – Diagnosis!

I’ve decided to get a little personal here and write about some health issues I’ve been having lately. I know my friends and family are interested to know more about my situation… And some of my experience may be useful to others out there on the net.

On July 12, 2012 I experienced a grand mal (also known as a tonic-clonic) seizure while I was at home, in front of the computer reading email. I’m grateful I wasn’t still on the highway, driving home from work when this happened. Right before losing consciousness, I remember having a strange problem with my vision, and being unable to read text on the computer screen. I seem to remember hearing what sounded like repeating static as well. The next thing I recall was being found by my wife Emily in an extremely disoriented state and bleeding from somewhere in my mouth. I had apparently fallen during the seizure and bit my tongue.

Emily dialed 911 and I was soon in the ER. Initial MRI and MRA scans didn’t show much except for something very small in my visual cortex. It was thought that this “abnormal signal” could simply be something residual from the seizure itself and not necessarily the cause of it. A follow up MRI conducted in September of 2012 showed that the abnormal signal from the first MRI had not cleared up. A spinal tap was then performed to check for possible causes of inflammation/infection and MS but ultimately came back clear. A third set of MRI scans done in January of this year looked worse, now showing multiple “ring enhancing” lesions. My neurologist and neurosurgeon both felt the next thing to do was a biopsy.

After another set of pre-op MRI scans (see the two images at the bottom), a craniotomy and stereotactic biopsy was performed on Feb 25th, a few days after my 38th birthday. The sample was sent to both the local lab at the hospital as well as UCLA for pathology tests. Initially we were told that the pathology reports suggested I had a grade two astrocytoma, however it now appears that the biopsy was inconclusive and only showed “inflammation” or Gliosis.

CT scan showing titanium plate used to repair my craniotomy.

So, essentially, we’re sort of back to square one now, not really knowing what’s going on in my head. Whats bizarre about all of this to me too is that I feel perfectly healthy. After the first seizure I decided to get my weight and blood pressure under control. I’ve lost over 30 lbs, exercise regularly and take medication for my hypertension. I also haven’t experienced any further seizures (I take 250mg of Keppra twice daily).

Next up for me in the very near future, is a second, slightly more invasive biopsy in the hope of getting a a solid diagnosis so treatment can begin. My neurosurgeon described what he planned on doing by saying he was going to take a “crouton” sized piece of tissue… As scary as brain surgery is, this second biopsy can’t happen soon enough for me – not knowing what’s going on in my head is far scarier, and it’s something that’s hard for me to not dwell on.

UPDATE: Read part 2 here

MRI image 1 — MRI w/Contrast showing abnormality on right side of brain.