Sunday, October 12, 2014

Episode 46: With Accolades and Self-Flaggelating Gratitude for the Most Eminent Human Doctor A, OR Thanks, Good Doctor, for the DNA Test

The title just about says it all. But, for the long version, read on:

This past Wednesday I saw Dr. A for my routine neurology checkup--this one, of course, the first after having met my nemesis in a bizarrely unhelpful neurologist at Johns Hopkins Neuromuscular Clinic, which actually made this local appointment slightly less than routine.

Yet I felt defeated before going in. What would be the point of trying to convince Dr. A that Dr. Red Queen (RQ) of Hopkins had not properly examined me or considered my medical history when she'd come up with her unequivocal veto of any possibility that I might actually have myotonic dystrophy?

If the woman had spoken to me with the slightest curiosity or compassion, I might have more easily accepted her assessment. Unfortunately, I maintain to this day that she subjected me to quite the opposite.

But this is not meant to rehash a story already told in a previous episode.

The issue at hand today had everything and nothing to do with Dr. RQ.

Trying to convince one doctor that another has treated you badly is akin to having to convince someone of your sanity.  Try it sometime.

However, I've have learned through long, hard experience that doctors are not infallible, beginning when I, at twenty years of age, disagreed with my eldest son's pediatrician who told me my firstborn, then about five months old and about whom fellow church members had expressed concern he might have hydrocephalus, was merely a "right-handed baby with a funny-looking head." That's exactly what he said--I realize now in a possibly unfortunate attempt to sound lighthearted and relieve my worry.

But I had reason to worry back then.  My insistence that my baby be seen at Children's Hospital National Medical Center revealed his skull was closing up prematurely and, if it weren't opened by a surgeon, would result in terrible brain damage--a condition called craniosynostosis. Oh, and he wasn't just "right handed"--he'd held his chubby little fist to his chest because his premature birth had resulted in a cerebral hemorrhage. His entire left side was partially paralyzed. And the reasons for all of the problems, I might add, are consistent with pregnancies in women with myotonic dystrophy.)

My point is this:

I don't always agree with a physician tells me, though if one were to mount a study on the many encounters I've had with doctors of many types and specialties one would conclude I've been a respectful and mostly cooperative patient. I'm just not willing to give up my right to think for myself.


And today I find I do have reason to worry, once again, even as a physician tells me it's "all in my head" in so many words.

I agree.  It is all in my head.  In my convoluted, messed up head.  Not psychologically messed up, at least not in any major way, IMHO.  But most definitely biologically.  Neurologically.  Muscularly.

do have reason to worry about myotonic dystrophy. And, yes, I may sound like an obsessed hyochondriac-cum-Munchausen patient, but my worries are legit.

I'm not going through the list again. The list is long, and every professional guideline I've read has listed these signs and symptoms again and again as pointing to myotonic dystrophy--or, perhaps a similar neuromuscular problem--and I've already cited those references in previous episodes.

I've read pretty much everything that's been published on the condition that I can find on PubMed and the World Wide Web--an abstract if the full article hasn't been freely available--and I have a very good idea of how to weed out the kooks and favor the good data.

I am, after all, a medical librarian--which is always worth a laugh when I tell this to a physician--but the fact is, I am well trained on conducting literature searches in PubMed/MEDLINE (the premier National Library of Medicine index of nearly all medical literature published in the U.S. and many other countries). I am knowledgeable about evidence-based practice (EBP), also known as evidence-based medicine (EBM), though I prefer the former term. I know that the patient's experience and wishes are supposed to be the third prong of EBP, but that's where it's my turn to laugh.

Cuz that's pretty much a bunch of horse hooey.  The patient is last in today's system, and don't think we're not.

That being said, an occasional Most Eminent Human Doctor comes along in this impersonal, money-driven health care system we're now in Down the Rabbit Hole.  And suddenly logic prevails over absurdity.

Dr. A, thank you for listening to me. Thank you for ordering a complete myotonia DNA screening.

So simple, so elegant.

I've had to sweat out whether my insurance would cover it, but I gave blood for that and other tests Dr. A was running on Wednesday, and I haven't heard a word from anyone about any problems.

Why must self-flagellate in gratitude? Simply this: I find myself so demoralized by the U.S. health care system that I felt I had to beg for what should have been a simple step in my care. I feel like one of those supplicants praying on their knees, forehead to the ground, smacking themselves with whips and chains.  Okay, maybe not chains.  Getting my metaphors mixed again.

Fighting to have this DNA test has been humiliating. If the answer didn't affect others in my family, I probably would have given up, but I would have been stressed about it forever after.

I know the test may be negative, but I don't think it is a waste of medical dollars to do the test even if that does turn out to be true.

Diagnosis includes ruling out as much as ruling in signs and symptoms.  If, in fact, I don't carry a defective gene that causes myotonic dystrophy, I'll be more than happy to kiss the feet of Dr. Red Queen at Hopkins. She seems to be the type who would like that.

We would benefit from a "no" answer as well as a "yes" answer; this isn't a pass/fail test for a grade! Knowing the answer, negative or positive, will be one step closer to a correct diagnosis, without the need for additional extensive testing, particularly if any of my relatives are so unlucky as to start having muscle weakness, shortness of breath, exercise intolerance, etc., etc., or end up in a wheelchair like my Aunt Marge, whose neuromuscular condition was also so mysterious it couldn't be diagnosed.

And my relatives who happen to have some of those traits will not have to go through the trouble and expense (since it all comes down to dollars anyway--all of us come down to dollars, I should say, in today's medical system) of being tested for this genetic condition; that question will be answered.

Myotonic dystrophy is the most common type of adult-onset neuromuscular condition.

Dr. RQ couldn't get over the fact that I don't have drooping eyelids, nor did any other family members in the photos I showed her. But every single piece of medical literature I've read says patients "may" have this trait. I'll bet my entire English professor career that "may" does not mean "will invariably," and this means that not every MD patient will have ptosis.

What I can do is check off nearly every one of myotonic dystrophy's other symptoms and medical signs (meaning something confirmed through clinical or laboratory means).

So, thank you, Dr. A, for cutting the Gordian knot.

If it's true MD does run in my family, I will have saved thousand of dollars in medical tests and appointments for the next generation--my sons and nieces, and any children they might have.  If it's NOT true, then we just go on knowing that I do have some sort of progressive--euphemism for degenerative--neuromuscular condition that may or may not be slowly strangling me even as I speak.

It's not like I'm the big winner or anything if the answer is "Yes."

I just think I--and my family--have a right to know one way or the other.  And having an unequivocal answer will relieve my health issues because I'll no longer be stressing about this one, easily solvable issue.

Thus, I say it once again:  Thank you, Dr. A.  Your human-ness is what makes you a great doctor. Being human--that's what patient-centered care requires, and it's a disappearing trait in today's health care system, I'm sorry to say.

But SO happy to say that I am fortunate enough to see this Most Eminent Human Physician. He is a model for what patient care should encompass. Kudos to dear Dr. A!

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