Physically, you are such a wreck that were you a car, your insurance company would total you. Your muscles are not working properly; you are fatigued, stressed, and looking for answers. Your rheumatologist refers you to a spine guy. You already know from earlier x-rays that your spine is a mess. Bone overgrowth and calcification resulting from a lower lumbar spinal fusion 40 years ago has caused spinal stenosis, confirmed by an MRI that shows moderate to severe narrowing of the space through which your nerves pass, causing pain and weakness in the legs and buttocks. This comes as no surprise. Physical therapy has no impact, nor does a cortisone injection in your spine just before your all-day drive to your eldest brother’s home for the July 4th holiday. You go anyway.
Upon your return home from your trip, you throw yourself into work with a renewed vigor. You have rejected spinal surgery, due to your peculiar inability to take narcotic pain relievers. You’re a stoic, but not a masochist. You go your merry way, ignoring the fatigue and resulting pain. One day, standing at the kitchen counter preparing dinner, you suddenly realize that your legs have all but disappeared from under you. You grab the counter on the way down and lower yourself to the floor. After a few minutes, you get up, finish making dinner and then email your spine guy, who insists you go to the ER. Blood tests and another MRI turn up nothing new, however, the spine guy orders an EMG to assess your nerve and muscle function and suggests you see a neurologist.
Years ago, when your second ex had his stroke, he saw a neurologist who seemed all right, so you make an appointment with her. On your first visit, she notes in your chart that you are diabetic, and though you have no symptoms of diabetic neuropathy, immediately assumes this is your problem. She sends you for blood tests and wants to see you in two weeks after the results come back. Two weeks later, you still have not heard from her about your test results. You call to find out the results and to schedule your follow-up appointment. The test results are in, everything is negative.
When the doctor enters the exam room on your second visit, she asks you how your feet are feeling. You tell her that they feel fine, the problems are all from neck to knees. She looks at your chart, sees something else to hang it on and says, “Oh, then that’s not diabetic neuropathy. That’s just fibromyalgia. I’m referring you back to your rheumatologist.” You try to tell her that you were referred to a neurologist because it is not fibro and because the EMG showed motor neuropathy. “Well, I’m a neurologist, I’ve examined you, and I’m referring you back to your rheumatologist.” Mid-sentence, as you are asking her about the motor neuropathy, she turns and walks out of the room, closing the door behind her.
Hopping mad and spitting nails, you call your rheumatologist’s office on the spot. You relate your story and ask them to get you a referral to a specialist with at least some clue about neuro-muscular disorders. A few weeks later, you go for an appointment with a specialist at the hospital and clinic where you had your hip surgeries. You explain to her about the muscle fatigue, give her your family history, which includes myasthenia gravis, among other things. Your father was diagnosed with MG at your age. Although not considered hereditary, evidence of a genetic predisposition exists. She sends you for another EMG and a bunch more blood tests, all of which are negative. You are fine, even if you are not fine. She will see you again in six months.
Winter arrives on the polar express; on the first subzero day, as you walk out to the garage to get in the car and go to work, your legs turn to cement and you are unable to climb in. Slowly, carefully, you shuffle back to the house, scoot up the back steps to the porch on your backside, reach up to open the door and roll yourself inside in a most undignified maneuver. It’s a good thing you weren’t wearing a dress. For a change this year, the back porch is warmed with a small space heater. You lie on the carpet for a little while until you thaw out and can feel your legs again. Between that first day and the end of February, you only leave your house a few times and only then when absolutely necessary. You tell your friend who has MG about the problem with the cold weather. She urges you to call the Muscular Dystrophy Association (MDA) clinic for help. For years, she has suggested you also have MG, but until now, you have ignored her. This time, you make the call.
Finally, you have an appointment with a neuro-muscular specialist two hours away, with experience in diagnosing diseases across the MD spectrum. It’s frigid, below zero and snowing on the day of your appointment. Your legs don’t work in this cold; you must cancel and wait three weeks for another appointment. Your exam with the new doctor proceeds as all the others. While you have no MG antibodies and there is nothing in any of the blood tests or EMGs to indicate any disease, you are obviously having problems, which she observes for herself. This is a day when you are having trouble just holding your head up. As you are putting your coat on to leave, she cocks her head to one side and asks you if you can return in two hours. She wants to do one more test that hasn’t yet been done. You have nothing else planned for the day, so you agree to come back.
The neurology clinic is located within a very nicely appointed hospital. You visit the café for lunch, and then in a beautiful, sunny atrium, you curl up like a cat in a comfy chair and take a nap. You awaken with just enough time to make your way back to the clinic. On any normal day, you could easily make it in five minutes. Today, it takes you 20 minutes, sitting down to rest every few minutes wherever you find a bench or chair. You stop to use the ladies’ room next to the office and catch a glimpse of your tired, droopy eyelids and flaccid neck in the mirror; you scare yourself.
You think you know what an EMG is, having had several before. They last about 45 minutes, during which electrodes are adhered to the skin to record data from electrical stimulation. Ha. The doctor explains that she will conduct a “single fiber EMG”, which, although it sounds harmless enough, in plain English actually means “a special variety of torture.” For three hours, you play human pincushion as the doctor sticks tiny needles in your left arm from wrist to shoulder. This is not a procedure for the faint of heart. As she explains the visualization on the screen, you feel simultaneously horrified and overjoyed; horrified because there is obviously something very wrong, and overjoyed because there really is something wrong (you weren’t just honing your hypochondria act). The nerve blockage indicates myasthenia gravis. This comes as no surprise; you have recently learned that in addition to your father, your mother’s cousin also had MG, which makes for funky DNA on both sides. How did you get so damned lucky?
(to be continued)