Okay, okay, okay.
I know my loyal viewers (all zero of you) will know that I do tend to wax diagnostic when it comes to my health problems. So much so that, for quite a while, I was convinced my neurodegenerative symptoms (with numerous periventricular white matter lesions on MRI, hyperreflexia, mild myotonia on EMG, and other neurological signs) might well be caused by myotonic dystrophy.
Given my family's physiologic resemblance to the facies of persons with myotonic dystrophy, the logic of a DNA test seemed, pardon the pun, a no-brainer, but apparently not to the neurologist aka neurolobitch I saw at Johns Hopkins Medical Center's Neuromuscular Clinic about a year ago. (For more on that miserable experience, see Episode 44. I still haven't named her "for real," but I'm sorely tempted these days.)
As anyone with a "mystery disease" knows, it's frustrating when a definitive diagnosis is not found for the profound, disabling changes to one's body and, at times, spirit--though I do my utmost to ensure that I don't also succumb to depression, no matter how hard some days can be.
Add to all that the fact that I worked (when I used to be able to work) as a medical librarian, among other careers, and in those years gained expertise in researching medical topics for physicians, other health professionals, and the public.
So, excuse me. I think an occasional foray into the possible causes of my day-to-day miseries is hardly obsessive. Of course, tell that to said Dr. Neurolobitch at Johns Hopkins.
The fact is, my once-subtle neurological symptoms may have started very early in life, beginning at 18 months with severe dehydration to the point that I was in quarantined intensive care for three full days. The dehydration had been caused by a severe virus during which I'd apparently puked and shat myself clean through.
Viruses are possible causes of multiple sclerosis and other neuro diseases, so perhaps that was the culprit.
Popping up again at 5 years old when diagnosed with amblyopia due to strabismus, a common eye condition in children that is caused by neuromuscular weakness. My cross-eye, or squint, is not overly noticeable, thank goodness, but I am legally blind in my left eye (God preserve the right!).
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| You can see my strabismus (cross-eye or "squint") here-- it's getting worse as I get older! |
Hinting at itself here and there throughout my childhood, characterized by frequent sick days from school and undiagnosed ADD, another neurological condition. My early report cards, as well as many of the issues I dealt with as a kid, are textbook for ADD, and I've been diagnosed as an adult. I have a fairly full-blown case, actually, and it's been exacerbated in recent years, probably from the white matter lesions in the ol' noggin.
Rearing its ugly head again when happily pregnant with my first child at 19 years old and unexpected complications that could be attributed to neurological problems (and are commonly found in pregnant women in myotonic dystrophy, which initially led me down that path) nearly cost me my pregnancy and my firstborn son, who was born prematurely, given a 50/50 chance to survive his first 24 hours, and himself developed within a few months a severe neurological condition, craniosynostosis, along with a cerebral hemorrhage that left him partially paralyzed from the time he was an infant. (J. is a miracle story in himself; that is a story I need to write--but I'm hoping he'll write it himself, now that he's an amazing 35-year-old man.)
My second pregnancy three years later was also difficult, though thankfully full-term, with odd problems such as an almost total inability to eat, very little weight gain, and the most debilitating headaches I've had since (though I had migraines in my 40s as well). Second-son A. was born with a couple of issues and developed a few more in childhood, including ADD.
Remaining mostly silent through the rest of my twenties--but who would know when in that one decade I experienced the birth of said beautiful son J. at the age of 20, dealt with his myriad physical problems, including two neurosurgeries at 7 and 9 months of age, had my second beautiful son A. at the age of 23, dealt with his health issues, went through another neurosurgery for J. when he was 5 and I 24 years old, lost my dad to a sudden heart attack when I was 25, separated from (and eventually divorced) my husband also when 25, went through my mom's breast cancer and mastectomy beginning a year or so later, and then lost my mom to liver and pancreatic cancer when I was 29.
The only significant neurological issue I can think of during the joy of my twenties (SARCASM, Sheldon!) was the onset of a very weird sleep problem I only recently identified as hypnogogic hallucinations. These are true hallucinations that happen as one is falling asleep due a criss-cross in the brain states of wakefulness and REM sleep. They are associated with narcolepsy, which I actually qualify for based on a Multiple Sleep Latency Test (MSLT) administered a couple of years ago; however, my diagnosis is idiopathic hypersomnolence (IH) based on that same test. The test has you sleep for a while during the day, then wake for a bit, then sleep, then wake, etc., and the amount of time it takes for you to fall asleep during those naps is calculated. Anything less than 7 minutes is diagnostic of either narcolepsy or IH, and my average was 4 minutes.
Fortunately, the hypnogogic hallucinations, which were absolutely terrifying (men breaking into my room to do me harm, and they were just as real as anything I've seen in true wakefulness), stopped after a couple of years. They began the night Mom died, though that first one was actually very comforting and arguably NOT a hallucination but a visitation from my mom, who came to the side of my bed and told me not to worry, she was fine. The ones that followed, though, were beyond frightening.
In my thirties and early forties, I began experiencing a profound lack of stamina. I honestly thought it was because I was getting "old" (funny in retrospect, now being fifty-something!). My co-workers told me they worried they'd walk by my office and see me dead at my desk--that's how bad I looked (and felt). I attributed my fatigue to my rather full load--I was a single mom of two beautiful, challenging boys, a summa cum laude college student cum part-time secretary cum program associate/coordinator cum graduate student cum grant writer cum graduate student in a second discipline cum academic reference librarian cum medical librarian cum English professor cum world traveler (Europe, Mexico, India).
After sending a Christmas letter out during my thirties, I received a reply from a friend who told me my letter sounded like a "cry for help." It probably was. But I would not be denied. I wanted it all. No doubt, stress has played a huge role in my failing health.
One day in 1996 a nurse in my office took my blood pressure and told me to go to the Emergency Room immediately, where I clocked in at 183/113. Oh, it got much worse over the years, but that was a startling number for someone who'd always had normal pressure.
My uncontrolled hypertension would take a big toll on my life from that point forward, resulting in numerous hospitalizations, heart problems, and a series of medicine cocktails that would keep my pressure fairly normal for a while until they didn't, and then it was out of control. My last semester teaching, it was running 200+/120+ much of the time.
It took thirteen years for the reason for this uncontrolled hypertension to be discovered. Is it any wonder I don't always trust what even the best doctors are telling me?
After all, son J. had been UNdiagnosed by his pediatrician even when I'd raised concerns about his head size and his refusal to use his left hand for anything, including reaching for toys. Trying to reassure me, I guess, the good (ahem) doctor told me, "Oh, he's just a right-handed baby with a funny-looking head."
Um. WRONG. A second opinion revealed J.'s craniosynostosis and left hemiparesis and was followed by those neurosurgeries and years of physical therapy.
I repeat: Is it any wonder I don't always trust what even the best doctors are telling me?
So, I was almost fifty when I finally learned the cause of my hypertension--an adrenal problem known as hyperaldosteronism that actually begins with a problem in the brain. A problem, in fact, in the hypothalamus, which for some time I've theorized is the culprit in many of my problems. (See Episode 46 for more on that pesky hypothalamus.)
In my hypothalamus, according to my docs at NIH, an abnormal secretion of the hormone CRH begins a cascade of disasters that results in my adrenals becoming hyperplastic (too big, with too many cells) and secreting too much of the hormone aldosterone, which leads to intractable hypertension, heart problems, and god knows what else. I'd never been happy with the "essential hypertension" B.S., so finding the cause was good if a little late for my heart and kidneys.
The hypothalamus, by the way, is known to cause many of the problems in multiple sclerosis (MS), which my neurologist says he'd diagnose me with if my MRI had shown lesions in my spinal cord and not just the confetti he'd found in my brain. However, I've since learned you CAN have MS without spinal lesions, so maybe, in fact, that IS my mystery disease.
Also during my forties I'd learn I have Hepatitis C, obviously not a neurological problem, but one I'd acquired quite possibly due to these underlying neurological problems when the placenta after J.'s birth did not fully detach from the uterus and led to severe bleeding--just one of the weird problems during that pregnancy that are, in fact, listed as common in pregnant and birthing moms with myotonic dystrophy, as well as other neurological conditions. I was given two D and C's (uterus-scraping procedures) during which I needed extra pints of blood (transfusions) and acquired the Hep C virus in those early 1980's days before the blood supply was screened. Thank God it wasn't HIV.
No doubt the Hep C doesn't help matters, neurologically or otherwise--but I hope I'll be a candidate for all these new treatments coming out.
Finally (I hope), in my forties and early fifties I would be diagnosed with my arguably most severe health problems, which I've described on The Mary Dell Show ad nauseum, so I'll just quickly list them: cardiomyopathy, kidney disease, and this mystery neurodegenerative disease (among other, somewhat less serious conditions).
The heart and kidney issues aren't surprising, given the years of astronomical hypertension I've endured. And, by the time my neuro problems were diagnosed by the eminent neurologist Dr. A (the antithesis of Dr. Neurolobitch, by the way), I wasn't surprised. I'd done hours and hours of research on my signs and symptoms by then and was certain many of my problems originated in my brain.
All in my head, yes. But not made up, as Dr. Neurolobitch implied during my consult with her.
My point in recounting all this is that I now believe my neurological issues began much earlier than anyone, including me, had thought--from the time I was a baby in quarantine with a nasty virus, perhaps.
Another point that I cannot help but bring up is the way Dr. Neurolobitch treated me during the 40-some (if that) minutes she consulted with me. Given the numerous correlations of my health problems (and some in my family) with those of myotonic dystrophy, I don't think a DNA test for that condition was out of order. In fact, I'd found medical guidelines--the Bible for docs these days--that pointed to exactly that.
In addition to that good (ahem) doctor's skepticism about every single thing I told her, she informed me that my neurological exam was completely normal--this despite highly reactive reflexes the neuromuscular fellow in the room commented on several times.
My local neurologist had already found hyperreflexia, so Dr. Neurolobitch's ignoring this calls into question every single other thing she "didn't" find during her exam.
Dr. Neurolobitch held firm to her NO DNA TEST decree, so that I am now paying, or would be paying if I could find the name of the credit bureau to which my bill has been referred, for having the DNA test done on my dime, despite having no income at the time due to my disability and now drawing a meager but life-saving amount each month from Social Security.
It was no skin off the doc's perfect white teeth for her to order that test, and I've seen forums in which that test was, in fact, ordered for patients at Hopkins with only hints at myotonic dystrophy, but she was far more interested in being RIGHT and putting me down, given my medical librarian theories, than she was in following proper guidelines.
Finally, to appease me that day, Dr. Red Queen (as she is known in my previous episode on that visit, in reference to my series on today's medical system--Down the Rabbit Hole) said she'd send me for an EMG (a painful test with needles stuck into your muscles) that she was certain would be normal.
Wasn't she surprised when that test DID indicate mild myopathy? Even with that, she still wouldn't order a DNA test for me, which is why I still owe money for one.
Although Dr. Neurolobitch Red Queen did end up being right about the myotonic dystrophy--and thank God, since the main reason I wanted that test was that I was concerned about my sons and nieces, since the disease is hereditary, her supercilious attitude was way out of line.
I dunno, I think curiosity is an important attribute in a diagnostician. Instead, this woman had mocked me from the moment she walked in the, an experience unlike any I've ever had in my many, many doctors' visits over the years. The most overt was when I told her about the cranial neuropathy I'd been experiencing--a weird, electrical impulse shooting down the side of my nose and across the top of my teeth--and she cut me off, saying "Yeah, yeah, yeah."
I shit you not. I was as shocked as you are. But it happened.
After being the object of her obvious, shrivelling skepticism about that and everything else I said to her, and then, adding insult to injury, telling me my neuro exam had been normal, I asked her,
"Well, why then did my neurologist say he'd diagnose me now with MS except that I have no spinal lesions?"
The look on her face was priceless, but she had a ready answer: "I've been consulted about myotonic dystrophy. I have nothing to say about that."
Really?
No matter what my referrals might have been for when I've seen other doctors at Hopkins, they've all at least attempted to find out what might be the cause even if it wasn't exactly what was thought at first.
Even the best (and most gorgeous) diagnosticians go down a few closed alleys now and then before arriving at a correct answer. It's called the scientific method.
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| Now, HERE's a diagnostician! And don't point that thing if you're not going to use it, Dr. House! |
Any patient is due basic respect from a physician. I'd be fine with deleting every snarky reference to Dr. Neurolobitch if she'd admit she'd fucked up when she saw me.
In fact, I'd say the Red Queen had more to learn from my visit to her than I did.
I doubt, though, that she's the type of person who could admit she SUCKS at taking histories and treating patients as human beings.
So I'm a medical librarian that came up with the theory of myotonic dystrophy and was wrong.
Well, guess what? Dr. Neurolobitch's perfect arc of a life that led her to an important position at Johns Hopkins didn't prevent her from also being WRONG--about my hyper-reflexes, my myotonia, and my diagnosis of degenerative neuromuscular disease.
And wrong about me. I am not the attention-seeker, time-waster, and malingerer she obviously believed me to be.
Maybe I'll never have a definitive diagnosis. I've seen enough posts about patients seeking diagnoses, particularly in neuro conditions, to know that mysteries are not always solved.
However, after reading that MS, in fact, does not HAVE to include lesions in the spinal cord, I think I'm just going to say I have MS from now on. I certainly have many, many of the signs and symptoms, and it's easier than saying to someone, "Well, I have some kind of neurodegenerative disease that no one can find the name for."
Simplifies things, doesn't it?
And, while labels can be damaging, anyone with a mystery disease will tell you that a diagnosis is hugely helpful.
I, at least, remain curious, but I'm also resigned. Whatever is happening isn't going to be cured, whether it's MS or myotonic dystrophy or any other neurodegenerative disease. It just would be nice if someone cared enough to help me find out what it is. Is that too much to ask of the so-called best physicians in the nation? Is it too much to ask that they, too, be human?
From now on, I'm having my docs refer me to the University of Maryland Medical System rather than Hopkins. As physicians in a teaching institution, maybe they will demonstrate enough curiosity to help me find out what I can call this thing that is taking away my life, day after day.
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P.S. Curse you, Blogger!! I had a much pithier version of this episode published that I lost, and there's NO WAY to get previous versions. Talk about frustrating! Time to start composing in a word processor. What a pain.
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