While Rare Disease Day events spanned the globe, I came across paperwork that reminded me of how difficult it was to have my Lambert-Eaton myasthenic syndrome (LEMS) diagnosed.
For close to a decade, I had occasional numbness on my face. The muscles in my back were in constant spasm, and I couldn’t attempt to start an exercise plan without my body rebelling, sending me to bed sick for days on end.
Any amount of walking would cause extreme pain in my feet. When I was driving throughout my territory as a pharmaceutical sales rep, I couldn’t walk by the end of the day. I thought the weakness I felt was because of the extreme leg pain. When I’d wake up in the morning, I barely made it down my stairs because the pain was even worse. I would hang onto the stair railing for dear life.
My husband would jokingly say we needed to install one of those electric chair lifts to zip me up and down the stairs.
It was during this time that I also had occasional zapping feelings that were like electric shocks down my spine.
My hips would freeze. If I sat on the ground on a hard surface, there was no chance of getting up. When I sat on the arm of the couch with my hips off-kilter, they would freeze that way. Standing up again was agonizing.
In 2004, I was diagnosed with fibromyalgia. The rheumatologist ordered hip X-rays to check for arthritis, but none was found. I was prescribed fibromyalgia meds, which brought no relief. When I complained about dry mouth and eyes, I was told it was a side effect of the fibro meds.
About 10 years ago, things escalated in the hospital emergency room. I had a facial droop that sent me for my first brain MRI. They tested the feeling in my legs, and when I said one side felt more of the needle prick than the other, they asked how long that had been going on. “I don’t know. That’s the first time anyone has ever done that test on me.”
Then came the doctor’s shock when he felt my back muscles. “It feels like you have rocks in there.” Nothing was relieving the muscle spasms in my back. It was attributed to my spinal surgery. My muscle relaxant prescription was increased to the strongest available — baclofen is typically prescribed for spasticity in ALS.
The results of that first MRI sent me to see my first neurologist. She checked for multiple sclerosis based on my symptoms, but my lumbar puncture was inconclusive. Then she ordered an evoked potentials test to see where along my spinal pathway the message was being disrupted.
That was in 2013.
She said the test’s result was “inconclusive due to the Harrington rod” in my back. Once again, my back became the reason for everything happening to me. She told me to come back if things got worse.
Things did get worse when I was prescribed Plaquenil (hydroxychloroquine) for my psoriatic arthritis. My LEMS symptoms flared. My legs were heavy. My face felt like I had a numbing spider going across it, and I felt like I was wearing a weighted vest. I could barely hold my head up. My employer wasn’t impressed when I called in sick with invisible symptoms.
When I reported the weird side effects to my rheumatologist, she immediately told me to stop the medication and to see my neurologist. My former neurologist had left, and I thankfully met my own version of Dr. House.
When I read my evoked potentials results last week, the words that stood out were “abnormal results” and “delays can be caused by a variety of neurological conditions which may be associated with the neuromuscular etiologies of scoliosis.” All of my suffering with an undiagnosed rare disease could have been alleviated much sooner.
The evoked potentials test, nearly four years before my LEMS diagnosis, was not inconclusive. It pointed toward a neuromuscular condition. But the neurologist stopped there, and I suffered for more than 10 years with horrible symptoms without a diagnosis.
Not finding expected results on a diagnostic test does not equal inconclusive. If any doctor tells you a test result is inconclusive, ask them, “What test is next?”
Note: Lambert-Eaton News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lambert-Eaton News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Lambert-Eaton myasthenia.
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