MS Patient, Ph.D.: The Diagnostic Saga of PPMS—A Tale of Seven Neurologists

I’ve seen no fewer than seven neurologists in the past 6 years (more than one per year!), often for second opinions or as specialists. And like many, many people who ultimately are diagnosed with primary progressive multiple sclerosis (PPMS), I’ve been handed a kitchen sink of labels. That said, even my list doesn’t rival that of some PPMSers I know.

Evidently, no seven(ish) neurologists can agree on anything. To summarize:

1. Neuro 1 saw me for my first-ever neurologist appointment … and then described a neuro exam that never happened in the clinical notes, which I always request after an appointment. (N.B.: A neurosurgeon did this, too; how common is this practice?)

2. Neuro 2, whom I saw after realizing what Neuro 1 had done, decided I had restless legs syndrome (RLS; this remains my favorite misdiagnosis) and tried to put me on L-dopa, a Parkinson's med. I declined, and this neurologist (who, it turns out, was a sort of Parkinson’s specialist) was rather unhappy with me. Neuro 2 diagnosed me with RLS, I think, after asking me if I needed to move my legs sometimes. I answered yes and showed Neuro 2 how my legs become sort of stiff after sitting for a long time and I use my hands to lift them. The “yes” pinged a diagnostic algorithm (and possibly Neuro 2’s dopamine centers) and turned it toward “RLS, yes,” so my gesture went unseen. Interestingly enough, I did start to get RLS a few months ago—6 years after this visit. I see what Neuro 2 meant about that leg movement!

3. Neuro 3, to whom I turned after I shuffled away as fast as possible from the L-dopa offer, said, "Well, you're sick." Because of my asymmetric hyperreflexia + clonus, some weakness, and asymmetrical Hoffmann’s sign, Neuro 3 thought I had primary lateral sclerosis (yikes) and sent me to Big Medical Center for a 2.5-day workup.

4. Neuro(s) 4 (there were three of them, but I'm counting them as one) evaluated me for 2.5 days during which I had several neurological exams, an EMG (my third in 2 years), MRI review (two sets of MRIs), a lumbar puncture, and a full clinical history. They gave me a diagnosis of “myelopathy of the c-spine, at C3, possibly PPMS.”

5. Neuro 3 then sent me to neuro 5, an MS specialist. Neuro 5 interrupted me literally three words into answering the first question to say to me, “Words are funny things,” to which I mentally responded “Especially when I get to say them out loud. I’m hilarious!” After a very brief exam, Neuro 5 told me that if treatment were available, I’d have a diagnosis of PPMS when I left that day, but no treatment, so no diagnosis—because of insurance. My husband was there for this one and confirms that I did not hallucinate these statements. Neuro 5 did not, however, review my MRI imaging, so I left it … and Neuro 5 left for a conference. Then Neuro 5 dictated a letter a week after my appointment (there was a conference to get to, you see) to Neuro 3 confirming all previous exam findings but then saying I was possibly magnifying symptoms or maybe had had a transverse myelopathy … because those two things are the same somehow?

6. Neuro 6, in a different state, 5 years in (we moved). I went to this neuro because of new-onset ocular migraines. This neuro took my history, looked at my imaging (MRIs, including two separate imaging sets showing a "plaque consistent with demyelination in the upper t-spine” and the juxtacortical hyperintensity the Big Medical Center neuros had noted), looked at my gait, gave me an exam, and said PPMS. And migraines now, obviously. Neuro 6 also had the sense to test my vitamin D, thank goodness, because I was nearing osteomalacia territory.

7. Neuro 7, new city, new state, new insurance, so my new PCP referred me for an annual exam. I mention my now-real RLS is waking me at night, and Neuro 7 says, “No. You need to have more than one episode of that to diagnose it.” (A) I had described having had several episodes, and (B) I hadn’t asked for a diagnosis. So, now that I have it, I … don’t. After a brief and rather weird exam, Neuro 7 tells me at first that my neurological exam “seems pretty normal.” I ask about that, naturally, because I haven't heard that one in 6 years through many many neurological exams, in spite of all the other weird stuff I have heard. Not even Neuro 5 said that. Neuro 7 then says, "Oh, you have asymmetrical reflexes and clonus, but maybe you had a transverse myelopathy. Or could be PPMS, but I need to see the imaging. And the Lhermitte’s [I have Lhermitte’s, and it worsens with heat] and bladder [I have urinary urgency/incontinence] don't fit with transverse myelopathy, so. …" I'm not quite sure how I went from “seems normal” to that in the space of 60 seconds, but there it is.

That last neuro got a bit of a frustrated earful, which I delivered as respectfully as I could. I'm sure it was well appreciated (not really), but my point was, "How can so many people trained in the same profession reach such totally variable conclusions?"

Then, I had the pleasure of interviewing a neurologist recently for an article right here at MS Discovery Forum, and she said something that helped me understand better: When it comes to MS, “Diagnostics suck.” She also noted that medicine is practiced too much on feelings and that doctors need to work with facts. I agree. Here are my facts:

• I have a plaque in the spinal cord at about t3 that is “consistent with demyelination” and has been detected with two separate MRIs.
• I have a progressive gait disturbance (described as “waddling” or “spastic-ataxic”) that has resulted in increased disability for me and limits my walking or just being on my feet in general.
• I have asymmetric reflexes, hyperreflexia, and clonus.
• I have positive, asymmetrical Hoffmann’s.
• I have Lhermitte’s. I know that’s not technically a sign, but all other causes of it have been ruled out. It worsens with heat. *bends head* Yep. There it is.
• I have a family history of MS.

Those are my facts. My feelings count, too, even if a physician’s perhaps shouldn’t, but that’s a story for another day.

Read other MS Patient, Ph.D. blog posts.