For some time now, I've been convinced that at least a large percentage of my maladies (and, lord, there are plenty of them to divvy up) correspond to some sort of neurological disorder and, most likely, a neuromuscular disorder.
As you may or may not be aware, I am a Master's-prepared medical librarian, and conducting literature searches for physicians is something I have been doing for many years. Thus, I am proficient in medical literature research. In previous episodes, I've laid out my evidence that there is something going on in my hypothalamus, a critical part of the brain that sends hormonal messages to the pituitary, which is more commonly known for as the director in the brain for autonomic functions such as breathing, heart rate, sleep/wake cycle, temperature, etc. I have documented problems in each of these areas.
I have many of the signs (quantifiable evidence) and symptoms (subjective, qualitative evidence) of multiple sclerosis and some of the muscle dystrophies. In fact, my neurologist, the wonderful, eminent, and human Dr. A., told me last week he would diagnose me now with MS based on my symptoms and the diffuse periventricular white matter lesions my MRI shows, except that I'm "too old" for a new MS diagnosis and also do not have lesions in my cervical spinal column, as would be expected with MS.
Interestingly, this correlates with my maternal aunt's "mystery" neuromuscular disease. In her 50s, when she could no longer walk, the doctor gave her a diagnosis of MS but told her he wasn't convinced that was it. Our family also has some other unusual characteristics, including a number of individuals with autism-spectrum disorders--I, of course, have ADHD and had social anxiety and "misfitness" most of my life--as least I always felt the latter.
I suspected my muscles weren't working properly as my ability to walk short distances became more and more difficult. During a cardiac stress test, my heart performed just fine, but I had to hang on for dear life to finish it; my legs were giving out from under me. Along the way, I'd read about conditions that affect the muscles' ability to work properly and lead to the exact symptoms I have when walking up a flight of stairs (a very slow process now, let me say) and even when walking for a block on flat ground. After the stress test, the hospital cardiologist said my heart was just fine, but "There is something going on with your oxygen." He didn't explain what, and I didn't see it mentioned in the report. Thanks. That's helpful.
In fact, they let me go after the stress test to walk upstairs to get a lung function test, but I didn't make it. As I passed through the registration office, I could feel everything going gray around me, and I knew I was in danger of cracking my head open on the hard hospital floor. They wheeled me back to the lab where my blood pressure had gone all out of whack. In fact, my blood pressure had had an extreme reaction to the stress test as well, and this was noted in the report, but, still, the reviewing doctor said it was essentially a "normal" cardiac stress test.
Doesn't matter if you're dead because your oxygen system isn't working right; it's the heart they're measuring in that test, and they aren't going to make things messy by looking at something wrong in a different system in the body even as it unfolds before their eyes. This is the general "they" of our broken medical system--not the caring individuals who work there despite its general patient-unfriendly manifestations today. (Read about this issue further in my next episode.)
My most debilitating conditions are Excessive Daytime Sleepiness (EDS) and hypersomnia, each of which, believe it or not, is a medical diagnosis. After my neurologist told I had demyelinating disease, I went home and googled that and hypersomnia, and BAM--there it was, a condition I'd read about while researching my symptoms: Myotonic dystrophy. (Now, as easy as that was, it's taken me some 20 years to figure out what the hell is wrong with me, despite seeing numerous specialists and the same internist (primary care practitioner, in today's medspeak) all that time--AND I've been researching each sign and symptom as it has appeared. In other words, diagnosing rare or unusual health conditions is not as easy as doing a Google search, I promise you.)
In my case, I believe I have adult-onset myotonic dystrophy I, a genetic condition with signs and symptoms that mirror my medical history. Not only that, it has a characteristic appearance that is similar to my family's.
On top of that, all my difficulties in my first pregnancy--threatened miscarriage due to a hormonal imbalance in the first trimester; partial placenta previa; early non-traumatic rupture of the membrane; premature birth; and postnatal adherence of the placenta--are found in mothers with MMD. Even the baby's inability to make it through the birth canal--"He's stuck on a bone," my doctor surmised--may have been, in fact, due to the slowness of my vaginal muscles to help push him out--and required a forceps delivery. Both forceps and "suction" births are increased in MMD mothers.
Though I'd read about MMD during my research, I didn't believe it applied because "mental retardation" is listed early in its sequelae. My family is pretty much known for the opposite of that--for brilliance, if I do say so myself. Both my father and my brother were pioneers in scientific fields, electronics and computer science, respectively. And, as I've mentioned before on the Mary Dell Show, my standardized Iowa test taken in 3rd grade landed me in the 99th percentage (there is no 100th) in abstract reasoning. I realize it's entirely unmodest to bring this up from time to time--and heaven knows how many of those sharp brain cells have been burned out by life and disease--but I'm simply trying to bolster my argument, which is that patients can often offer a vital piece of the puzzle in difficult diagnoses but tend to be ignored, thus costing the system more dollars and the patient more pain and confusion.
MMD 1 and 2 have similar symptoms but originate in different chromosomes. MMD 1 (the more serious form of the two, which is what I think I have) may not rear its ugly head until adulthood, when it progressively steals away a person's health in ways so mysterious that diagnosis can take decades, if it ever happens at all.
And MMD is the one neuromuscular disease known for debilitating Excessive Daytime Sleepiness and Hypersomnolence. If you've been reading any of this blog, you'll know that my sleep has been atrociously messed up since 2008 after a major hospitalization due to a flare of whatever's going on. I've been unable to wake myself regularly at a decent time since then. Most days I have to sleep a minimum of twelve hours, and if I've been exerting myself at all, I can easily go sixteen, seventeen, twenty-four hours at a time in what feels like a deep coma. In the past year, I've been diagnosed with moderate sleep apnea (17 apneas/hypopneas per hour while asleep) and with narcolepsy, with average sleep onset of 4 minutes and at least two REM onsets--a definite diagnosis, although MMD's sleep problems mirror that to a T.
Again, back in that ol' pesky hypothalamus--at least that's my theory. The sleep switch, you see, is malfunctioning. When I'm asleep, I can't get up. And when I'm awake, I can't go to sleep. So I'll have long sleepless nights, only to fall asleep at the crack of dawn into the sleep of the dead and then go for said 16+ hours at times. Ask my honey how long it's been since I have been able to participate in any meaningful daytime activity over a weekend--that's when I know I can sleep without guilt because I'm late for work, and the coma comes over me and I'm lucky to be up by 8 p.m. or 10 p.m. for a few hours of awake time.
In other words, sleep is running my life, as I've said numerous times on this blog. Even with the new meds I've been given--heavy-duty stuff that's supposed to keep me awake--I take a pill bedside and then can sleep the entire rest of the day away.
In addition to the sleep issues and all the other signs and symptoms correlating to those I've been suffering, as well as some oddities in my family, MMD strikes me as the culprit because of the "characteristic appearance" attributed to the disease. A photograph of an MMD patient in an article nearly knocked me over--it could have been a close relative of my dad. Not a twin, but a definite resemblance. I've long thought that my family's tendency toward high foreheads and early male baldness must be due to some hereditary syndrome, especially after I started researching them and found similar "defects" listed for other diseases.
In short, my family is an extraordinary example of the Geek and/or the Nerd, not only in our interests and abilities but most definitely in our appearance. For all that, we're a pretty good-looking bunch, in my humble opinion. Again, though, this tendency toward high intelligence is not named in what I've read thus far in MMD, but since genetic diagnosis is still relatively new for most diseases, this may in fact be a variation. High intelligence certain correlates with Asperger's syndrome.
Could my long journey, my long detective hunt, have come to its inevitable conclusion at last? While an increasingly debilitating disease is no joy, knowing what has afflicted me this long will be most helpful. This doesn't discount the signs and symptoms of my polyangiitis with granulomatosis (Wegener's)--just more damage and difficulty for this poor old bod.
Of course, it does open a scary reality--whether the next generation will need genetic testing, and how that will affect our family's line going forward. I'd hate to think any of the relatives--my kids--would exist because someone had found MMD in its genes and aborted it for that reason. That's a scary sort of eugenics. I know we MMDs, if, indeed, I turn out to be one, contribute much to the progress of society in big and small ways.
How strange it is to contemplate all of this.
Update soon!
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