Episode 62 : Mary Dell, MD (Medical Detective)--Eating Some Crow But Not Regretful

Dinner?! No, thanks!

Okay, so the DNA results came back, and I don't have myotonic dystrophy.

Hallelujah!

Whatever is  plaguing me is not due to that particular hereditary disorder. This is good news for me and my family--I'd been mostly worried about my kids and nieces and others in the family if I was, in fact, found to have myotonic dystrophy.

So does this make me a bad medical detective? I certainly don't think so. A good detective with a sound theory must follow it to its conclusion, even if that conclusion disproves his or her hypotheses. That's part of the detecting process.

If you've followed any of this "medical detective" hunt of mine, you'll know I've been convinced for some time that I--and, hence, my family--MIGHT have myotonic dystrophy, a hereditary, variably mild to severe disease, similar to multiple sclerosis in many ways (though not all).

I never would have insisted on a DNA test had I not first been told my my local, very competent neurologist, the eminent Dr. A., that I have a demyelinating disease similar to MS and that he would, indeed, diagnose me with MS except for two things:  the white matter lesions running rampant through my brain do not also occur on my spinal cord as in MS, and I'm a bit older than is usual in diagnosing MS. I have heard of older persons getting this diagnosis, however, including my wheelchair-bound aunt, though that doctor had settled on MS while saying my aunt didn't quite fit the profile.

Considering the fact I have had near every sign and symptom of myotonic dystrophy, including myotonia confirmed by EMG (a muscle test), AND my family's resemblance to a typical appearance of the disease (early male baldness, long, thin faces, maloccluded teeth, etc.), as well as my aunt's mystery disease and my son's mysteriously developing a neurological problem as a baby recently connected to myotonic dystrophy through research, it seemed only reasonable that a DNA test determine whether or not this is a concern for me and my family.

And I ended up paying for the test myself. That's how much I wanted to know. And in the months since my blood was taken, I sort of sensed it would be negative--and was darned glad of it. Being right wasn't the point. Being able to sigh in relief and move on is the best possible outcome. But part of figuring out something is ruling out all logical possibilities until the correct answer is found.

I still find it so hard to believe that Son No. 1's craniosynostosis--a skull malformation that has so deeply affected his life--was just a random event, a "spontaneous mutation." I want to know why it happened, and this did seem a very reasonable explanation. But, as I said, "Hallelujah!" Now I don't have to worry about this particular hereditary disease in my family.

You may remember my Mary Dell Show episode about the witch of a neurologist I saw at Johns Hopkins to determine whether I might have myotonic dystrophy. She was certain I did not, and that is fine--however, she treated me with a level of disdain bordering on derision that the memory still rankles. That consult with that woman will ever remain the worst experience I've ever had in health care. And I've had a lot of experiences in health care, some good, some bad.

Okay, so my theory is wrong, but why then DO I have a demyelinating, degenerative neuromuscular condition?

When Dr. A gave me this news, he leaned over and said quietly and seriously, "I'm so very sorry to have to tell you this."

I hadn't been at all surprised. I'd surmised long before that whatever was happening to me was neurological--based on my medical detective skills.

So it's not myotonic dystrophy. Well, then, what the hell is it?

I hate being told by the medical establishment that my debilitating signs and symptoms don't have a specific label. But the fact is, the cost of testing for everything it could be is prohibitive.

So don't worry, sports fans--I'm not going to throw my hat in for any other diagnosis at this point. I've read just about everything I can read about these things. In the end, whatever I have is causing me to go downhill faster than friends my age. That's a fact, and the "why" of it doesn't have to have a label. An MRI proved it.

I'm hugely relieved that whatever is happening to me is not something I have to worry about in others in my family--that was one of the main considerations in getting the DNA test and paying for it myself.

And it was worth every penny to have that peace of mind and to cross off that cause for whatever is making my life so difficult, health-wise, these days. We've discussed a few of the gems thus far--hypersomnolence, REM sleep behavior disorder, difficulty breathing/expending energy, heat intolerance, fecal incontinence, substitute aphasia (a brain-speaking disconnect), not to mention the day-to-day utter fatigue that must be fought every minute if one is to accomplish anything at all.

Guess I'll just wait around and see what surprises my degenerating brain has in store for me.

Can't wait to see what's next.

________________

P.S. I found a great site on diagnosing neuromuscular disease:  http://quest.mda.org/article/getting-correct-diagnosis-neuromuscular-disease. I lament to say that many of the suggestions have not been undertaken in my case to date, while others that should be fundamental to a neurological exam, such as those listed in the "taking history" section, were not done in my case. Thus, my diagnosis remains unknown despite a) being told my a neurologist that I do, indeed, have such a disease and b) regularly experiencing the signs and symptoms of neuromuscular/neurodegenerative disease. The lack of a specific diagnosis is beyond frustrating!

Episode 49: No DNA Results Yet, But Another Delightful Hallmark of Myotonic Dystrophy (Fecal Incontinence) Warms my Christmas

Merry Christmas!  And Happy Day, if you don't happen to celebrate Christmas.

My Christmas was greeted with yet another symptom of myotonic dystrophy, the particular gem in a group of symptoms that can, in fact, first lead to a myotonic dystrophy diagnosis for many patients: "Digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features," state Bellini, et al. (2003) (full reference at end of episode).

In the past, I've suffered this especially special symptom, among other, nearly daily digestive symptoms, to quite debilitating measures.  And then it mysteriously disappeared, for the most part, though occasionally revisiting to remind me how little control any of us has when our bodies lose theirs.

Yes, happy, happy, joy, joy!

This Christmas gifted me with another fun day of fecal incontinence.

It happened just as we'd finished opening presents around the tree with Honey's two kids--his third is, sadly, suffering something along the lines of agoraphobia--fear of leaving the house due to panic attacks, and stayed at her mother's house for the day. Meanwhile, my two, both adults, are 1.5 hours away, one celebrating the holiday with his girlfriend and the other with their Dad, who has a big family filled with my boys' aunts, uncles, cousins--for a Christmas filled with masses of good food and cheer.

Here at Honey's, thankfully most of the kids had cleared the room when, out of the blue, the contents of my guts oozed out of my body into the seat of my Christmas jammies from several years back, my favorites, covered with tiny Miniature Schnauzers but now with something extra, and most unwelcome. I had to ask Honey's son to leave the room, and the look I gave Honey told him all he needed to know.

He'd lived through the times with me when this horrible condition had plagued me for months (several years ago), culminating in a particularly hideous and voluminous "lava" flow while shopping, and my subsequent refuge in a fortunately unoccupied women's bathroom where I had to wash out my jeans and wear them wet back to the car and home, thanking the gods for not exposing myself or anyone else to the humiliation of witnessing the incident. And having a good cry before going anywhere, cold and wet and disgusted.

Fortunately, today, the Christmas jammies could be discarded, and nothing had seeped into the furniture.

I tell this story, hopefully with a little humor, to let others out there with fecal incontinence know that they are not alone.  It's not a topic one discusses in polite company, so, what the hell, we are not polite here at the The Mary Dell Show. We tell it like it is, warts and all. Seeping anuses and all.

After getting myself squared away, I retreated to bed where my hypersomnolence kept me obliviated from the rest of Christmas Day. I couldn't even get up to make my signature turkey gravy, much to everyone's disappointment, though it's now 4 a.m. and I have the juices with which to make gravy for leftovers. Yikes, kind of a weird thing to talk about when I've just described how my body just expelled its own juicy brown liquid!

Turkey gravy, anyone?

Unfortunately, I had another little, NOT catastrophic, episode of fecal incontinence tonight while wearing my NEW Christmas jammies, so they are being washed and bleached as we speak. And this second prompted my need to discuss this worst of symptoms with you, Dear Viewer, my non-judgmental friend.

My DNA test for myotonic dystrophy has been completed, but I still don't know the result. I did, however, receive the bill: over $6,000.  I'm responsible for it because Dr. RQ at Johns Hopkins Neuromuscular Clinic did not believe such a test was warranted, but my local neurologist asked if I'd be willing to pay for the test (about $1,000, he'd told me). He ended up ordering a battery of myotonia tests, which is why it was so much more. I do have a form to fill out that will lessen the bill because my federal disability benefits were recently approved, and those on Medicaid can have the amount reduced.

Perhaps I won't know the results of the DNA test until the bill is paid, or perhaps the company sent the results to Dr. A., my neurologist. At this point, I'm kind of afraid to know. I hate the thought of spending hundreds, possibly thousands of dollars I don't have on a negative test, but I still say it's worth it to know, yay or nay. If I don't have myotonic dystrophy, that's good news, indeed. But if I do have this genetic condition--and I have nearly every sign and symptom, including these digestive ones, of the disease--members of my family, especially those of a younger generation, have a right to know they have these defective genes, if for no other reason than saving them the trouble and expense of a long medical investigation into mysterious symptoms.

And I, in fact, have symptoms throughout my gastrointestinal symptom from my mouth (enlarged tongue) all the way to, well, you know where.

"Myotonic dystrophy (MD) is characterized by myotonic phenomena  and progressive muscle weakness. Involvement of the gastrointestinal tract is frequent and may occur at any level," begins the abstract for an article on these conditions by Bellini, et al, 2006. Our digestive tract involves a series of "smooth" muscles, and these muscles can become weakened in a number of neuromuscular diseases.

As for myotonic dystrophy, "In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported."

Okay:
Dysphagia (trouble swallowing):  Check, but mild and sporadic;
Heartburn:  Check.  Very bad, actually.  Diagnosed by ENT and with a hiatal hernia, and prescribed meds.
Regurgitation:  Check.  I've told doctors numerous times that I fairly frequently cough up stomach contents, but no one, apparently, cares about that.
Dyspepsia:  Check.  Upset stomach, basically.  Very frequent.
Adominal Pain:  Check.  Frequent.
Bloating:  Check.  Frequent.  Often with very forceful belching.
Changes in bowel habits:  Well, that's the topic of the day, isn't it?

I went through months, perhaps as much as a year, with fecal incontinence as well as daily watery diarrhea--I don't think I had a normal bowel movement that entire time. No cause was found, and eventually it sort of resolved, though occasional bouts, as I said earlier, returned.

Over the past year, I'd say I've been constipated more frequently than I've had to deal with diarrhea, but I've had episodes of both.

I'm always aware of my digestive system, on one end or the other, and I don't want to even think about my digestive system.

But when yours isn't working, you will think about it. You have to. Or you may find yourself very embarrassed one day. Of course, thinking about it won't guarantee you won't have an embarrassing moment, such as mine this morning when I had to ask my step-son to leave the room. I am just so fortunate to have an understanding, loving partner who immediately knew what the problem was and helped get me into the bathroom.

All in all, it's been a good Christmas. Parts of it have been sad, including a weird rift with one of my sons that I don't even understand and that hurts pretty bad. I'm trying not to think about that; I'm trying to stay happy for the season.

I'd hoped to bake cookies all day Christmas; instead I was in bed, in that nether-nether world where I find myself more often than in waking reality these days.

And then there's the fecal incontinence thing. At least I was home, in the bosom of part of my family, and not out in some mall, when the flood gates opened.

Let's hope for a Happy New Year.

A new beginning, on my son's birthday, the first baby born in Washington, DC, in 1983. I love you, little one now grown, as well as your big brother. The two of you have brought more blessings than I can count into my life, and you are the very best of my accomplishments. I wish I weren't falling apart, and I'm sorry you have to deal with a falling-apart mom. This is not what I would have wished for you two or for me.

All we can do is try to deal with our falling apart with a little humor. Even the gross stuff.  Which is what I tried to do today, despite never finding scatalogical humor very funny.

Har har har on Ho Ho Ho Day.

Here's a group that has been fighting back against often debilitating Irritable Bowel Disease with humor for years--and I say, Cheers and More Power To You, Great Bowel Movement!

Let's hope this New Year gives us a Depends-free twelve months--God bless all of you who have to resort to these measures; I imagine I'll be joining you soon.

Being chronically ill ain't fun, sports fans.

___________________________

Bellini, Massimo, et al. "Gastrointestinal Manifestations in Myotonic Dystrophy." World Journal of Gastroenterology 12:12 (1821-8), 2006.

Degraeuwe, J, et al. "Faecal Incontinence Due to Atrophy of the Anal Sphincter in Myotonic Dystrophy." Acta Gastrtoenterology Belgium 74:1 (88-90), 2011.

Episode 47: Hypersomnolence, OR Sleeping Too Damned Much, OR I Want My Life Back

I've mentioned hypersomnolence on the show many times, but what exactly does it mean?  How does hypersomnolence affect one's day-to-day life?

A typical day.

Of course, "hyper" means too much of something, and "somnolence" means sleepiness. And I have been dealing with this strange and debilitating condition for the past six-plus years. The official diagnosis is idiopathic hypersomnolence; "idiopathic" simply is medspeak for "We don't know why the hell it's happening." More frequently than not, it seems, idiopathies end up being caused by brain pathologies, and recent studies on this condition point toward the same.

Another term used is primary hypersomnolence; this means the problem is due to its own cute self and not something else going on in the body.

Another typical day.

Hypersomnolence can also occur due to other health conditions, such as cancer, in which case it's known as secondary hypersomnolence. Whatever is happening to me is slow-moving, and most cancers aren't, so I'm not overly concerned about that. As any faithful viewers know, I suspect I may have myotonic dystrophy and am waiting for my DNA results as we speak. This is a genetic neuromuscular condition, and one of its hallmarks is--you guessed it, sports fans, hypersomnolence. But whether or not I have myotonic dystrophy, there's no doubt (and I have scientific evidence, as described below) that I have, indeed, been blessed with hypersomnolence.  Lucky me.

And, yes, yet another typical day.

I've always tended toward sleepiness, particularly having trouble waking and getting out of bed in the mornings and, in recent years, the afternoons and even some evenings. Yet I managed to get going all through school and most of my work years, kicking and screaming all the way. I used to sleep in until 1 or 2 on the weekends and would feel a little guilty for it--but that was nothing compared to what I've experienced since 2006 or 7.

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.

Episode 45: On Being a Woman in the Face of Debilitating Disease, OR That Pesky Hypothalamus!

I'm in trouble with one of my sons again. That is, I think I am, though I do tend to be slightly paranoid about his feelings for me since we don't get to see each other very often.

And probably rightly so--the being in trouble, I mean. I used a rather fun, risque photo of myself to illustrate a point on one of the episodes of this show, and apparently that made my 30-year-old son feel icky, especially after some of his friends, who are also my friends on Facebook, apparently razzed him about it. Now, my son is thirty years old--I'm not talking about a child here.

I didn't think the photo was even close to pornographic, but I can understand his discomfort. But nowadays body parts are displayed all over the Web and in text messages ad nauseum, so I don't think my playful photo--uploaded simply to make a rhetorical point, and it took me a year to get the guts to do it, but I made the sacrifice for my art--is really that scandalous. One must be edgy these days, mustn't one?

After all, said squeamish son DID do the lead singing and guitar playing in a punk band all night in one of the bars in the town where I live wearing nothing but a DIAPER, so it's not as if he leads a life of modesty!

Anyway, hopefully, I'm imagining all that. I love my kids dearly and don't like any hint of being on the outs with either of them.

Yet I still feel the need to write about being a woman--a relatively young and sexually active (though less and less so of both)--woman who is coming (no pun intended) to grips with the effects of chronic disease on her sex life.

The effect, in short, is numbing--a metaphorical cold shower on the hormones and neurotransmitters responsible for sexual arousal and pleasure. This, at least, appears to be the culprit in my case, having recently been diagnosed by my neurologist with progressive (a nice way of saying "degenerative") neuromuscular disease.

My faithful following (of statistical vampire sites, at least) knows that I've been convinced for some time that my hypothalamus is going wacko.

Yes, sports fans, my HYPOTHALAMUS, of all things, is failing me.

I've been convinced of this for some time, even before my neurologist diagnosed me with this neuromuscular disease of unknown etiology, still to be determined.

My money is on myotonic dystrophy based on a reasoned review of my medical history and the MD disease profile. Not tangential is recent proof that myotonic dystrophy's effects are caused by imbalances in, you guessed it, that cute little hypothalamus.

It's time for all of us to become friends with our hypothalamuses!  Now, there's a great word.  Or should it be "hypothalami"?

So, what is a hypothalamus anyway? 

Well, you have one, or you wouldn't be reading this right now. Or doing anything else. Like breathing, for instance.

Episode 41: Down the Rabbit Hole and There are Nazis Down Here!

Readers of fiction will recognize the allusion to Watership Down in this episode's title. Watership Down, a popular book when I was in high school, is based on a completely absurd construct: A warren of bunny rabbits must fight to save its society from nasty Nazi rabbits. Believe it or not, it's a terrific read. It works. Which is more than I can say for the rabbit hole I currently find myself in.

In fact, this rabbit hole suffices as a metaphor for the utter irrationality in today's health care system. I've actually encountered Alice's Red Queen; I don't want to call her a Nazi, exactly. Or mix my allegories. Just couldn't resist the literary tie-in.

Okay, okay, enough with the figurative language.  Here's what happened, Dear Viewers, when I finally underwent the long-awaited neuromuscular examination for possible myotonic dystrophy at Johns Hopkins Medical Center. Now, to date, I've been more than pleased with my care at Hopkins, but this experience has likely destroyed my loyalty to said institution.

They'll be happy to be well rid of me anyway. Who am I but one patient, powerless against the juggernaut of Big Medicine, Inc.? One patient jacking up their costs (and their profits) with her smorgasbord of chronic disease. And now that I have Medicaid instead of Blue Cross Blue Shield, I'm doubly unimportant to the system created (but not maintained) to help me and you.

I'm a shareholder liability, that's all I am. "Let them die then, and decrease the surplus population!" Okay, okay, not yet another literary character entering this story, but I often quote Ebeneezer Scrooge at moments like this.

"Off with your head!" says Dr. Red Queen, in so many words. "And no DNA test for you--you've overstepped yourself so I don't care to relieve your mind with an easy yes-or-no answer to an at least somewhat possible reason for your years of suffering and confusion at the ways your health has failed you! So there!"

That's her reflex hammer in her hand, and she refuses to admit the medical sign it renders in her patient, lest her patient be right about something she has no business knowing about! Off with her head, and no DNA test for her . . . NEXT! I have a paycheck to collect and a lifestyle to protect and a reputation that trumps yours, so nyiehaya!

Despite this latest horrific experience (and there have been plenty more than this and the one with my son, believe it or not, in my tumble Down the Rabbit Hole), the Hopkins visit was not a complete waste.

The electromyography (EMG)--a rather uncomfortable test in which a doctor sticks needles into your muscles and records the electrical reactions--indeed revealed some myotonic abnormalities. Thus, although Dr. RQ, as I'll call her, refuses to consider my experience as valid, the machine doesn't lie. This is not over yet.

My true purpose in telling my story is that I want you, Dear Viewer, to understand how the medical system is against YOU, the patient, and how LITTLE YOU MATTER in any quest to learn what is wrong with you or a loved one. Obviously, this needs to change. 

The medical system exists to serve US--YOU and ME, the patients. We, the People. But as this diagnostic nightmare continues to demonstrate, we count very, very little in the stories of our own lives, if we believe what our doctors and other health professionals, insurers, and governments (federal, state, local) tell us. 

But we don't have to believe them. We know our bodies; we can read; we can think; we have friends and family who want to know what is wrong; we have only this one life to live, and we deserve to know what is wrong when there is something wrong. That's what the system is for, but the system too frequently fails us.

Episode 40: On Invisible Disease, OR Breathless Sex and No Longer in a Good Way

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Episode 39: Big Clue for Mary Dell, MD (Medical Detective): Suffocating Again - or, Rather, Drowning

Air. Precious, sacred air.

My previous episode on this invisible but all-present substance in which we are all immersed, and upon which we all depend, is Episode 25: Down the Rabbit Hole and Suffocating.

Sadly, my body's lack of air continues, which is why I'm revisiting the topic. It's been a rough weekend.

I was so happy to have the artist's permission to include his image of Sacred Wind--nothing I've seen captures my current feelings about air quite so well:

Thanks so much to Douglas A. Sirois for permission to use this beautiful image, one that captures my feeling about the sacredness of air, especially given my increasing lack of the element in which we are immersed and dead without! The artist has many spiritual and fantasy illustrations I love!
www.dougsirois.com
douglas.sirois@verizon.net
http://dsiroisillustration.blogspot.com/
http://www.imdb.com/name/nm4223178/

Be prepared if you choose to stay with this Episode: There's a lot of yucky stuff here. That's what happens when one discusses his or her illness: there's lots of yucky stuff. But if we're going to be real, we have to be real, so on we go.

For over a year now I've suspected that my blood and, hence, my organs and tissues, have been under-oxygenated. This can be referred to as hypoxia (lack of oxygen in the body's tissues, usually due to hypoxemia, lack of oxygen in the blood), or oxygen desaturation.

Episode 34: Something Other than Health Problems: Muskrats! Field Voles in the Cottage!

Never did I intend this blog to be so consumed with health issues--BO-RING! But those have consumed me of late, mostly because of not having a definitive diagnosis to explain all my increasingly debilitating symptoms. At last, we seem to be on the right track vis-a-vis both of those things. I'm still convinced it's mytonoic dystrophy or something very similar, and I'm waiting for a date for my consultation at the Johns Hopkins Muscular Dystrophy Clinic, which wonderful Dr. A is referring me to. Alas, I thought a DNA blood test would be cheaper than a spinal tap, but he told me they run something like 2 grand, and he wanted an expert to evaluate me and test me.

More about that in a future episode.

So, WHAT ABOUT MUSKRATS, the title of this episode? You know me. Digression is my middle name.

Episode 33: Mary Dell, MD (Medical Detective): Another MD, Myotonic Dystrophy--Could this be it?

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.

Episode 22: From Bad To Worse Part Deux

In the pilot of The Mary Dell Show, I explained how the name of the show is based on my brother's recording me as a kid on his reel-to-reel tape player as he interviewed me about newsworthy topics such as how to catch lightning bugs.

When seeing that gigantic tape player on the foyer floor as my parents said good-bye to my big brother on his way to Georgia Tech, the impact of his leaving hit me for the first time.  That tape player defined my brother, and it defined the relationship I'd had with him my whole life.

That would mean no more Mary Dell shows, no more Walter Kronkite-depth interviews on the workings of my then eight-year-old mind.

And I mentioned that as my first heartbreak.

My second came when my baby was born two months early and was given a 50/50 chance for life in his first 24 hours, and a third came about nine months later when I learned he must've had a stroke while fighting for his life in the Isolette for 26 days, and his entire left side was partially paralyzed. And a simultanous one when learning, at the same time, that he had craniosynostosis, a malformation affecting the skull bones, which explained the odd shape his had developed into by then. By the time he was a year old, he'd had two neurosurgeries to chisel open the sutures between those bones, which had fused prematurely and forced his brain to grow in a long shape from front to back.

In a flash of nature's ironic fun with us, Jason had a third surgery to add plastic to those same sutures because, having been forced open with hammer and chisel, they refused to close again, as they do in most kids' heads well before then. And in yet another flash, nature took away his hair when he was in his early 20's, leaving his skull, with its scars and bone ridges exposed and no camouflage at all for it shape which, thankfully, had greatly improved after his surgeries but still draws attention until one gets to know the person he is, and of course it doesn't matter at all then. Nevertheless, life has been tough for him, and appearance matters in this superficial world. He's fortunate, though, that he is a very good looking guy, so any flaws in his appearance quickly disappear once you get to know him, as is true for all persons with unusual physical characteristics.

[N.B. June 27, 2014.  In an interesting--no, groundbreaking, for me--twist, Jason's early baldness may have been for the exact same reason he was born with craniosynostosis--a genetic condition that I'm convinced runs in my family called myotonic dystrophy. The two conditions were just recently connected genetically by scientists. I'd been sure since this happened that there was a reason for my pregnancy problems and Jason's issues, something that would explain both--I was not satisfied with the explanation given at the time that his craniosynostosis was the result of a random gene mutation. Of course, doctors knew so much less than about our genes. The Genome Project was merely a dream then. It's taken me 35 years and a whole lot doctors' appointments, tests, medical advancements due to research, and personal sleuthing to finally come, I believe, to the answer. I'll know for sure soon, since a Hopkins neurologist has reviewed and agreed to take my case, and I'll see her on July 9.]