New here… not even sure what I've got! lol

[MissyMeMD]

Hi everyone,

I found this forum when I was looking for CBS mutation information. I had testing by 23 and me done a few years ago, and noted that I had a mutation that was being investigated for a possible link to EDS. The only study I recall reading though showed a propensity uterine rupture if I recall correctly. But now I wonder if some of the things that have gone on in my life these last couple of months aren’t related. Fast forwarding several years from when I had that testing done, I am now an MD in residency. This is a second career for me so I’m OLD… 🙂 Like Dr. Diana, I’m also a patient, which is a kind of crappy place to be at this point. I say that because my experience with physicians has made me distrust some of my colleagues and has me concerned that many in my profession are just lazy… sigh. Sorry, I digress. Let me tell you my story.

I started having issues back the first part of May with some weird virus that looked like mumps. Isolated relative lympocytosis so they said “virus.” For the first time in my life, I also had an alarmingly high blood pressure. They just chalked it up to being sick and sent me on my way. This was after they had done a CT of my head because of the swelling, saying hmm… you have fluid in your sphenoid sinus. Probably an allergy… take singular.. I spent three days in bed, fever, sweats, etc being just miserable… then resolution… at least for a little bit.

Unfortunately, the swelling returned, mostly at my cheeks but some at my neck, which would come and go. And this weird metallic/foul taste down my throat. And spikes in my BP and heart rate at random and unpredictable times. And periods of severe thirst (like waking up in the middle of the night and chugging a full bottle of water kind of thirst) that would come and go. So, almost a month latter, I was back to the doctor. Yet another CT was done to look for a “drainable fluid collection” but none was found. Diagnosis? Sphenoid sinus infection. I had no white count but they put me on antibiotics anyway.

I was dealing with those annoying symptoms when the BP spikes started getting bad. 150’s then 180’s then 200’s… What the h*ll? My BP was always in the 105-120 range!! And tachycardia/bradycardia… I could go from a HR of 130 to 50 in less than a minute. Sometimes, I could tell this was going on and I’d start to feel faint. So, I was on to more testing. Holter monitor showed spells of sinus tachycardia even asleep. The BP monitor showed my blood pressure was fine… so long as I wasn’t having a spell. All my endocrine tests were okay too, except for the metanephrines. This tests to see if you are excreting large amounts of epinephrine or norepinephrine. And well, I was, all three times they tested. 2x urine tests positive. 1x plasma positive. So, I got my adrenals scanned to look for a tumor. But they didn’t see anything. Great.

In the meantime, I get really sick. Headache, stiff neck, nausea. Husband says I wasn’t making sense. Insisted on making my appointment with ENT I had scheduled for that AM, but the doc is worried I have a brain infection. So after just a brief visit with him, I was off to the ER again. Worked up for meningitis/encephalitis. Put on IV antibiotics. White count this time. But nothing on my LP. Lots more scanning of my head including 2 MRIs. X-ray of c-spine showing some instability? MRI shows what they think is a sphenoid sinus infection. AGAIN. For the love of God… I spend 4 days in the hospital and take 14 more days of antibiotics. But the damn symptoms keep coming.

Now I have a spell where my peripheral vision is affected. Spend overnight in the hospital. Vision comes back. Neurology claims I’m having complex migraines. I say “do complex migraines start with hypertension and tachycardia?” and the MD looks me in the eye and says “no, that would be another disease process.” Come on man!! Anyone whose watched “House” knows you don’t go chasing dual diagnoses! It’s the first thing they teach you in medical school. I ask, “could this be CSF leak?” (I’m asking because I literally feel like water is running down my throat.) Says he doubts it, but will humor me and do phase contrast study with MRI. Looks like impaired flow AND leak to me, but I’m not a freaking neuroradiologist. Then again, neither is the person reading my study. They are now calling the thing in my sphenoid a mucous retention cyst and never even bother to comment on the special study.

So, here’s where it gets good. I finally have my follow up with ENT. He thinks 1) there’s a leak 2) the CT/MRI is not consistent with mucous but fluid 3) thinks it’s likely there’s increased Intercranial pressure and 4) explains that pressure on my pituitary can cause all sorts of unusual endocrine like symptoms. He asks me to try Diamox and get a high resolution CT of sinuses. I start feeling better. No more crazy blood pressures. No headaches. I can’t believe it!!

So, does any of this resonate with you all? Am I crazy? Is this some syndrome or just basically benign intercranial hypertension? Should I be worried about EDS? (I was concerned about EDS bc I kept have intermittent periods of relative lymphocytosis, which if not infectious, can be caused by “connective tissue diseases…”) Is there something else I need to do and or testing I should have?

Thanks for reading this novel, y’all. Sorry it was so long. If I can figure out how to do it, I’ll add pictures of my brain. It’s a very pretty brain. 🙂

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