“What could she possibly have?”

AUDIO VERSION

At the end of October we traveled over to Ann Arbor so Priscilla could see the doctor at the neurological diseases clinic.  It was located on the outskirts of town, some distance from the University of Michigan hospital.  We were a bit early for our appointment and we hadn’t had lunch yet, so we stopped at a bakery-café place.  There were two small quiches in the display case and we were thinking of splitting one of them until the attendant told us that he’d just switched over from breakfast to lunch and was going to have to throw them out unless we’d like them, for free.  So we each had one.  Afterwards we heard from a friend who’d known we were going to the clinic that she’d been praying we’d receive “manna from heaven” that day.

We still had some time so we stopped at a thrift store.  On an uncharacteristic whim, we bought two CDs without being able to sample any of the music first.  One was a classical album by the violinist Vanessa Mae, whose recordings of contemporary songs we had heard before, and the other was jazz arrangements of Bach by Jacques Loussier.  We listened to these the rest of the way over to the clinic and then on our way home.  You’ll hear more about these CDs later, as they both ended up playing a special role in this story.

The doctor spent over an hour with us and we were impressed by her understanding and expertise.  Though it was a potentially painful procedure that had its risks, she wanted to do a lumbar puncture (spinal tap) to continue testing for MS.  Priscilla’s symptoms closely mirrored late onset primary progressive MS, that is, MS that starts later in life and becomes progressive immediately, without a prior history of attacks and recoveries.  Without such a history, to be diagnosed Priscilla would need to have a year of disease progression—that much was clear—plus two of the following: lesions that occurred in different places; lesions that occurred at different times; or the presence of certain proteins in her cerebral-spinal fluid, but not in her blood.  This last result would be a marker of autoimmune disease, likely MS given her symptoms, and it would get her at least that one step closer to a diagnosis, though she still had no identifiable lesions.

The doctor then told us, “We also need to consider motor neuron disease.”  “What’s that?” we asked, never having heard the term.  “Motor neuron disease,” she repeated, with a firm nod that indicated she wasn’t going to say anything more about what it was.  But to check for it, she wanted to repeat the EMG, so at least we knew it was something neuromuscular.  This was the test that Priscilla had described as “medieval torture.”  I had consoled her by saying that she’d never have to have one again.  So naturally we were hesitant.  But the doctor explained that to be confident of a diagnosis, they had to be able to do all the tests themselves, under conditions they could control.  For all they knew, the EMG from the “private practice” might be accurate, but they had to be sure.

Priscilla finally agreed, but on one condition.  She wanted the lumbar puncture and the EMG to be performed by medical school faculty members, not by the students or residents who normally did these procedures under their supervision.  If her case really was 1 in 10,000—she’d been told she was in the “1% of the 1%”—then she wanted the most trained and experienced people available to be working on the diagnosis.  Someone who was still learning might get most cases right but miss something in an exceptional one like hers.  So when the tests were scheduled this was explicitly requested.

When we got home we looked up motor neuron disease and discovered it was a less common name for ALS or Lou Gehrig’s disease.  It was actually a more accurate one as well, because it named the cause rather than a couple of the symptoms or a well-known patient.  Motor neurons carry messages from the brain through the spinal cord to the muscles.  ALS causes these neurons to stop working, for a still unknown reason, so that a person’s muscles can no longer get these messages, and they become unable to move.  We could understand if the doctor hadn’t wanted to say outright, “You might have Lou Gehrig’s disease.”

Two weeks later we returned to the main hospital for the lumbar puncture.  It was done by a woman who introduced herself as a faculty neuroradiologist.  She talked Priscilla through the procedure and performed it smoothly.  Unfortunately Priscilla suffered a common side effect, a debilitating headache that lasted for days.  This caused her to miss some Grad IV events for the first time.  Our pursuit of a diagnosis had limited our ministry before the disease itself had.

The next week we went back for the EMG.  A doctor came in and introduced himself as a “fellow” at the hospital.  We wondered what a fellow was, but given the arrangements that had been requested for these tests, we assumed it must mean a senior researcher of some kind, like a fellow in an academic institute.  So we said nothing and he went ahead with the test.  After the first part, with the electrodes, he said he needed to consult with his “staff” and left the room.  At first we thought this meant the staff who worked for him, and we wondered why he would consult them.  Then it dawned on us.  The staff was the medical school faculty, and a fellow, we realized belatedly, was someone doing a fellowship right after a residency.

Priscilla got very upset.  She had wanted the most experienced person possible to do her test.  She expressed her sense of betrayal loudly and in no uncertain terms, slamming the pillow against the exam table  for emphasis.  This brought in a series of negotiators of ascending status, with the result that the “staff” doctor finally came in and announced that she would participate personally in conducting the rest of the test.

When it was over, the “fellow” apologized sincerely for the misunderstanding, but said that Priscilla should be happy because the test had shown that her nerves and muscles were healthy—there was no ALS.  (In retrospect, even knowing that Priscilla actually did have ALS, it’s impossible to say whether a more experienced set of eyes might have recognized this, or whether her symptoms simply hadn’t yet developed to the point where anyone could detect them.  While I feel that a teaching hospital should recognize that special measures are appropriate when it identifies a 1-in-10,000 patient, I still prefer to give the doctor the benefit of the doubt in this case.)

The next day the results of the lumbar puncture were posted to Priscilla’s secure online chart.  Her cerebral spinal fluid was normal.  There was no MS, either.

“What could she possibly have?” I wondered aloud.  The best name anyone could come up with was “idiopathic progressive spastic paresis.”  “Idiopathic” meant literally “a disease unto itself,” but the term was used to describe a condition that could not yet be identified with any other known disease.  “Spastic paresis” meant that Priscilla had muscle cramping and weakness, and “progressive” meant that it kept getting worse.  But this was really a description rather than a diagnosis.

I accepted that Priscilla’s condition might be beyond the power of medicine to diagnose at this point, but it was still frustrating to have gone through so much and have only this description to show for it.  We could have told the doctors months before that she had increasing weakness and cramping in her muscles, and we didn’t know why.