Dr. H giving her patients a thorough exam

Here’s a brief overview of some of the tests for diagnosing CMS.  This doesnt  cover all the tests I’ve done over the years. Just the main/general/obvious ones that most patients with CMS might have in common.
*PHYSICAL EXAMINATIONS: Oh my goodness…if I had a dollar for every physical examination I’ve undergone related to this disease, I’d be rich!  (And I’d have more time to blog and actually spell check my posts because I’d be rich and not have to work!)  I saw just about every specialist after stumping primary care physicians for years. We even saw a bone specialist because they thought maybe one leg being slightly shorter than the other was a cause of my strange gait. Well, the main examiners related to finding a diagnosis were neurologists.  They did strength tests on my upper and lower extremities, checked my reflexes, made me close my eyes tight then tried to pry them open, puffed my checks out, check my neck muscles, squat and try to stand, stand from a seated position, walk down the hallway, try to lift my arms above my head,and do the hokey pokey cuz that’s what it’s all about!

The main pattern of weakness in my body is in my trunk muscles, shoulders, and of course generalized weakness all over.  But the shoulder girdle/trunk weakness is a trait seen in myasthenias.
*X-RAYS: Some genius thought maybe my legs were different lengths and maybe that’s why I walked funny… Well, needless to say the x-rays were not much help! But I didn’t mind missing school to have the rest done, I’m sure!

*EMG (# 1): This was a stressful one.  I was in 5th grade and in the midst of hating my body for repeatedly failing me. I wanted answers but I hated the fact that it meant I needed another painful test. It wasn’t fair.  My mom is a psychotherapist and she tried to give me some relaxation techniques and meditation to try using during the test… But all of that was out the window as soon as I saw the needles.  The boob of a technician decided it’d be a great idea to show me the needle before using it on me.

EMG Technician: “See? It’s not so big!”

Me: speechless and tears welling in my eyes as I stared at what looked like the largest needle I’d ever seen! I thought to myself “I can’t do this. I don’t wanna do this…I wanna go home” I wished I had my blankie or a stuffed animal with me…I wished the walls weren’t white. I wished there was something pretty to look at besides sterility of the examination room full of scary equipment that was there to hurt me.

The procedure felt like it took forever.  I was scolded for moving too much even though I was truly trying my hardest to stay still… As an adult I’m certain that he was not a pediatric technician. He had zero compassion or understanding of children.

Side note/memory…My dad came home from work that night and brought me Amtrak gifts he must’ve bought at Union Station on his way home from work. I loved Amtrak vacations and we had a bond over trains. So, I loved that he brought me that stuff. I remember a tshirt, mug, playing cards and a stuffed animal❤️ my mom must’ve called him to tell him how rough my test was.

Anyway, weeks later, my mom told me the results were inconclusive. They wanted me to come back for more. They didn’t get to finish everything they wanted to do. They didn’t see anything abnormal. My mom chose to let it go and let me wait.  I was too traumatized by my last experience.

Here’s a brief description of an EMG from hopkinsmedicine.org:

*MUSCLE BIOPSY: I was in 5th grade. I was scared.  I thought I’d be asleep for this procedure!  I guess nobody told me… I wasn’t prepared to be awake for it.  I’m sure to adults it would be stressful but manageable.  But to a child?  It’s freakin scary to know they are cutting you open, cutting out a chunk of muscle from your bicep and sewing you up again. I’d rather not feel the pressure or hear the clipping of my muscle.  I really despised my stupid muscles that day.  None of my friends had to do this!  It wasn’t fair.

Weeks later, we got results.  My muscle fibers were abnormal.  Based on this test, they told me I had Congenital Myopathy.  (See my post on GARBAGE diagnosis)

*BLOOD TESTS: These are common to people who don’t have rare diseases.  However, it was part of the mystery.  I had no markers for Myasthenia Gravis. I did a genetic test when I was in high school.  They took my blood as well as my parents’ blood.  We never got any results.  Nobody knew what happened to the blood after it was sent off for testing. I left for college about a year later…

Not sure it would’ve mattered as I’m not certain they even knew the gene markers for CMS back then, or the dok7 gene mutation.

*EMG #2: I was in college and my symptoms were becoming unbearable.  I was hitting an all time low. I needed answers. My neurologist had a hunch that I had CMS based on an article he read about it somewhere. He said he wanted to redo the EMG and biopsy.  I was nervous, but desperate to try anything!  So I had to do another EMG.  He promised he’d have the technician do the test that would likely show if I had CMS first and then decide if we’d do a full EMG after that.  Lucky for me the technician saw it right away.  He tested my shoulder/neck muscle and it showed red flags fir myasthenia right away.  He tested another muscle in my arm and my leg just to compare and all showed myasthenia markers.  He told me he had enough for the report for my neurologist and let me go without having to test more.

So, that was really uncomfortable!  But not as bad as the first EMG. Thank goodness!

*GENETIC TESTING: Here’s the big one!  The one that would’ve been great to have long ago. It held the key!  But…IT IS VERY EXPENSIVE!!!

But yay for interest free payment plans, my friends!  Some people buy nice things or go on vacation for almost $2000… I get poked by a needle, my blood depleted into test tubes and I get a bandaid…er…gauze wad under an ugly poo colored stretchy arm wrap thingy!  Woo hoo!  SCORE! Went great with my dress.

A side note on the genetic testing… I went to the highly rated University hospital to have it drawn figuring they’d know what to do with such a rare test blood draw. Well, apparently it was a big deal because they called in the head needle bearing blood drawer to oversee everything…to make sure it was done right and packaged correctly since it had to be flown across the US.  It also made for an interesting trip to the billing department since they didn’t know how to bill such a rare test.  They had no code for it in order to see what my expected cost would be. That’s always a great feeling. and insurance didn’t know what to do with it either… That took a few months to straighten out! In the end I had to pay for the test out of pocket and they only reimbursed a small portion since the lab is “out of network.” Grrrr. It’s not a test every lab can do!  This is the best facility to have the best test capability for finding specific CMS genes!  So, my hands were tied if I wanted answers… Insurance stinks. That’s all I have to say about that.

Anyhow!  The test made it to the appropriate genetic testing place and revealed what we needed to know. I have a defect at the Dok7 gene for Congenital Myasthenic Syndrome.  I should frame that puppy on the wall. It cost me an arm, a leg and a few viles of blood!

most expensive “genes” I’ll ever own


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