You’re sick. The doctors don’t have a clue what your problem is, but they still feel the need to give you a diagnosis…I mean they get paid big bucks to have answers! Duh! So you get an answer even if it’s not a very good one and it actually answers nothing and bears no resemblance to your symptoms. Hey, close enough! Carry on! We’ll send you a bill!
Basically, you go through a bunch of tests, the Docs end up more confused than when they first met you, but can’t think of anything else to poke you with, put you through or peek at to find the answer…so what you get stuck with is what I call a “garbage diagnosis.”
For me and some others who have Congenital Myasthenia Gravis, we were originally given a garbage diagnosis of “congenital myopathy.” I had this useless “diagnosis” for more than 15 years! All because little was known about Myasthenia Gravis and Congenital Myasthenic Syndrome back then. . .and not a whole lot has changed! (I am CONSTANTLY educating doctors about my condition. I know more than they do. That is scary)
Basically…back then the doctors were saying: Yes! You have something wrong with your body. You have symptoms! Your muscles are not normal! Looks like you might have been born this way! No CLUE what it actually is…so, I guess since you’re here and you look desperate for a name…we’ll just call it congenital (born with it) myopathy (weak muscles). Have a nice day! Take your bill on the way out!
Great! I really wanted a name for my roller coaster! But wait, Doc…this one fails to explain why I feel ok one day and turn to jelly the next day!?! Where is the information on THAT? Clearly, I was not being heard… Your diagnosis is total BS!
Yo Doc! Did you hear me? I have fluctuations! What was causing my awful fluctuations…
What was causing my never ending, sickeningly unpredictable roller coaster????
Please make it stop😢 I want to get off.
None of the neurologists at Children’s Memorial Hospital in Chicago, nor any neurologists at Rush Presbyterian St Luke’s Hospital, nor ANY of the other hospitals in Chicago could figure it out. We arrived at endless doctor appointments with a glimmer of hope each time, but consistently left there disappointed…the specialists left in my wake were either confused or indifferent to my struggles. I swear they literally scratched their heads and had question marks dancing in the air around them as they dismissed me and told me to come back in 6 months.
Despite muscle biopsies, EMG (nerve testing), blood tests, countless physical examinations and muscle strength tests, … Nobody had any freaking answers. Why?
I flipped through every book at every library I went to that had anything on muscle diseases, I looked in encyclopedias (don’t laugh…hello, this was the late 80s/early 90s…not the time of Google yet, people!)
I even started doing my own research on myself, trying to find my triggers. Maybe I could put together this mysterious puzzle, if nobody else can! Is it something in my Diet? Am I missing a nutrient? Is it Hormone cycles? Weather? Stress? Yes! Sure! It could be All of it! So what’s the KEY to my triggers? WHY is it happening to me, and more importantly, how do I make it STOP???
Please, let me off the roller coaster…it’s making me sick :(. . . .
Fast forward about 12 years…In my early 20s I started to gain a little weight. I wanted so badly to exercise like all the other college peeps! U of A had a really nice gym I had access to since I was a student. But of course, exercise only made me worse.
Enter Plan B.
Perhaps I could talk to a dietician? I needed a referral from my PCP in hopes that my measly student insurance would pay.
My brain dead PCP denied my request. “You’re young! That’s for old people and people with diabetes and other medical conditions. Just try more exercise and eat responsibly.”
Seriously? Dr. Dumbass? Thanks for nothing.
My complaints obviously fell on deaf ears. I didn’t just want a weight loss diet! I really wanted to know if there were regimens to try to naturally boost my energy and endurance? See if levels of something are off and how to fix it with optimal nutrients! Screw you PCP! You obviously don’t HEAR me…so, I’ll go see my neurologist (whom I gave up on years ago… I mean he wasn’t helping me either but I was desperate for a referral! Maybe he’d listen this time and just write the darn script for me to see a dietician!)
My neurologist agreed to refer me BUT he wanted me to try something else first…he asked me to try Coenzyme Q10 and Creatine. There were studies going on at the time about the possible benefits of these supplements with certain neuromuscular diseases.
What did I have to lose? I was hopeful. So I tried it. I tried to talk myself into thinking those pills from the “granola store” might be making even the slightest difference!!! But alas, it wasn’t. The supplements only wanted what little expendable money I had as a poor college student.
So, once again… I headed back to the neurologist. Reeking of that familiar feeling…defeat. What’s the point? Just give me the damn referral, please!
But…This time something magical happened… I was finally being HEARD for the very first time in my life! Dr. Wonderful had a beautiful lightbulb illuminated over his head!!! He acknowledged the mystery of my roller coaster! Little did I know this would FINALLY be the turning point in my journey to find answers!
I knew my neurologist was onto something when he took a deep interest in my symptoms, and especially wanted to understand my roller coaster!
Thank you, God!!! FINALLY!!!!
He said my roller coaster of symptoms closely resemble Myasthenia Gravis…
Now let’s back up for a second…
I heard of that disease before…Thinking back, I remembered one of my neurologists back in Chicago introducing me to someone who had Myasthenia Gravis. He casually remarked how I couldn’t possibly have that disease because I didn’t have droopy eyes or mouth. Hmmmm… So lack of two “minor” facial symptoms equals no chance I have it!? (ironically, this came later for me. I have it now to a minor degree) Ok then! Wasted brain space, Dr. Horse-blinders! Once again, close to answers without knowing it and he refused to dig deeper…look outside the box. Another wasted six month appointment. The highlight of those bi-annual appointments was having lunch with my mom (thanks mom! Love you!) and skipping school…especially gym class….
So NOW… I was FINALLY a huge step closer to my true diagnosis!!!
To be continued in another post where I will discuss the tests that help officially diagnose Myasthenia Gravis and Congenital Myasthenic Syndrome…