I did things their way. I trekked down the City of Un-Brotherly love,just for the sole purpose of getting lab work.(footing the gas, parking garage fees...plus an entire morning of dealing with a registrar who had seemingly no inclination to find the orders, or call the nephrology office for MORE orders. I guess that's my job, along with drawing my own blood, running the lab tests, and hand-delivering it to the doctor)
And then, I waited. Wednesday.Thursday.Friday.(Saturday, Sunday) This morning, I called back and plugged the voicemails of every existing phone in the nephrology department.
Miracuously, the doctor called me back, and said the lab had neglected to get an actual magnesium level(along with 3 other actual tests)and she was sorry, and frustrated right along with me. Any chance that my primary care provider could get them?(no, my pcp doctor won't touch the issue with a ten foot pole) Frustration number one.(I just spent how much money on a totally useless mission) As it's been two months..the followup is just around the corner, in April. When you go to the lab, you actually now have to assume that they aren't running the right tests & personally question them on what they should be running.(which they won't believe and will have to verify, taking several MORE hours)
Without those "key" tests,it's impossible to really know for sure.And the lab in Virginia sent notes..not actual values, so from reading those notes they just get the general idea that it's solely a magnesium-wasting problem. Inconvenient, but hardly a shoe-in for Bartter's Syndrome. But it's not just a magnesium problem,although I waste alot of calcium as well,my levels of that are normal.(it just doesn't reabsorb into my kidney tubules)Leading my current nephrologist to proclaim I have Bartter's, the other syndromes don't involve leaking calcium.
All I really wanted is genetic testing,not to waste half my life confusing them and frustrating me.
Although they now actually believe that yes, I do have an actual genetic defect involving the magnesium channels,and suggested various non-productive ways to deal with it. Oral magnesium.(been there, done that,every brand/dose/way. Induces horrid, persistent dierrea and even increases magnesium loss) Amiloride, a K-sparing diuretic.(yes, I do that too) I hadn't told them that I pump magnesium,it didn't really seem like they'd A)have any idea what I was talking about or B)approve.
"Or, we could lower your kidney function, since lower kidney function slows electrolyte loss. We can do this via (large)doses of NSAIDS."
EXCUSE ME? Did a physician (at a world renown medical institution, grant you) actually just suggest/offer to help put me in renal failure,as a treatment for this thing? (At the initial appointment, she spent five minutes telling me to never,ever,take an NSAID because it was bad for my (otherwise fine) diabetic kidneys. To say that it was shocking was an understatement. Yes,this condition is bothersome,inconvenient, and frustrating, but it's treatable. Unlike kidney failure, which is infantly more serious and 100% more fatal. If you just treat the body with the appropriate electrolytes,it's like diabetes,you stay happy and healthy. I will take my imperfect kidneys over kidney failure any day. I did not say this to her,but that's what I thought.
Then we discussed genetic testing. It's about $4,000, which would not be covered by insurance..and would likely(99.9%) just show .00000001 chance of passing it on.(not worth it, in her opinion) I could go to the NIH or somewhere, and try to get in on one of their studies to have it done.(but at the end of the day-what's it really show that medical testing has not already confirmed?) All of these syndromes are so rare,that no one really knows much about the genetics of them. And I think I will do that(go the NIH route), because I want to know.
So, by the end of the conversation,I'd lost complete faith in JH to acquire/diagnose anything..it wasn't why I'd gone there in the first place,
but if they don't really believe in the necessity of something,and lose every
core piece of info while trying to diagnose something,it's not really worth it. No, it's not imperative that I know for sure that I have Bartter's Syndrome, but it seems to me to be the difference between a random genetic defect and a disease that has statistical evidence,with the later having a higher chance of happening in offspring. That's really what I wanted the information for. Perhaps I just have to accept that medicine is an imperfect science..ask 5 nephrologists something, and you get 10 different opinions. One can't predict the future..or the chances that one's offspring won't be born with some sort of defect. Fortuantly, the chances of this one defect seem to be extremely,extremely low.(more chance that a child would acquire diabetes)