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Friday, May 18, 2012 7:33 PM | Tony Miles Volg link

Thursday, May 17, 2012

Stuck in Solitary

The Solitary Confinement cell of the Gladstone...

When I started this blog, I decided I didn't want it to be a blow-by-blow account of my journey through the medical world, a symptom diary, or a journal of the treatment regimens I've attempted. Instead, I've tried to emphasize the emotional and psychological challenges shared by patients forced to confront a chronic debilitating disease, and also make it a place to report on and attempt to interpret much of the MS research I find myself obsessively compelled to seek out. Occasionally, though, I've deviated from that path when events of enough medical interest crop up as I deal with my disease, and I recently experienced just such a development. 

Long time (and even some short time) readers of this blog probably know that I'm something of a mystery patient, as my diagnosis has been up in the air for quite some time. I was first diagnosed with "atypical Primary Progressive Multiple Sclerosis" back in 2004, about a year after my first symptom – a slight limp in my right leg – showed itself. My disease was considered atypical because my MRIs revealed only one significant lesion (a big juicy one at the base of my brainstem), lumbar punctures showed no O-bands or other CSF abnormalities, my medical history hinted at some kind of systemic autoimmune disorder, and I generally didn't conform to the any of the diagnostic criteria (click here) established for the different forms of MS. 

I ditched my first MS neurologist after a year because, despite his being a fine physician, he had the personality of a herring. My second MS neurologist immediately suspected that I might not have multiple sclerosis and had me tested for a host of different diseases that might account for my symptoms, including sarcoidosis, lupus, Hughes syndrome, Lyme disease, and others. When none of these tests came back positive, I was slapped with that "atypical PPMS" label again, and for several years that's where things stood. 

Never comfortable with my diagnosis, I pursued other opinions, my efforts including visits to the Johns Hopkins MS Center on two separate occasions. The doctors at Johns Hopkins finally told me that it was indeed quite likely that I did not suffer from MS, primarily because, along with all of the other strange elements of my presentation, my lesion had not changed at all in size or shape since it first been imaged several years earlier (it remains unchanged to this day), nor had it been joined by any others. These fine physicians couldn't quite put a finger on precisely what might be ailing me, though. They suggested I be tested for Sjogren's disease and also that I consult with a mitochondrial disease specialist. I did both and came up with nada. 

At about that time I was accepted into a research study being conducted by the National Institutes of Health, the US government's medical research arm, whose primary facility is located in Bethesda, Maryland. The study was designed specifically to identify clinically definite MS patients. During my four visits to the NIH, I was subjected to almost every conceivable diagnostic test, and had enough blood drawn to feed a vampire family of four for at least a month. After all the testing was complete, the NIH agreed with the doctors at Johns Hopkins, saying that although I definitely couldn't be classified as having clinically definite MS, they couldn't come up with a viable alternate diagnosis. So, for the last 18 months or so, I've been stuck in a kind of  never never land as far as my diagnosis goes. My local neurologist, no slouch in his own right, has by and large stuck with the "atypical PPMS" diagnosis, since MS is a diagnosis of exclusion, and we've excluded every other possibility we could think of. 

Recently, the NIH has decided that I could very likely be suffering from "Solitary Sclerosis", a condition that was recently described in a paper published by researchers at the Mayo Clinic (click here). The paper details seven patients who presented with progressive disability and only one visible lesion on their MRI images, all at the cervicomedullary junction, precisely where my lesion is located. Although my lesion (I've named it Adolph) has a number of very atypical features, and much of the other strangeness about my case hasn't been resolved, the NIH doctors feel that this newly described derivation of MS is the closest fit for my condition. I'm actually a little bit confused by this, because the folks at the NIH originally presented quite a long list of reasons why they didn't think I had MS, many of which now seem to have been minimized in order to make the Solitary Sclerosis diagnosis fit, but I will concede that this newly identified MS offshoot does cover some of the more glaring anomalies surrounding my condition. 

It may seem strange, but I've actually grown kind of comfortable not having a definite diagnosis, since having no diagnosis leaves open the possibility of any conceivable outcome, including total recovery. Solitary Sclerosis doesn't seem to be an especially cheerful diagnosis, as of the seven patients the researchers looked at, one is dead, two are quadriplegics and completely bedridden, and the other four are quite disabled and progressing rather rapidly. None of the SS patients responded positively to any of the standard MS disease modifying drugs, which is typical for patients suffering from the progressive forms of Multiple Sclerosis. 

I too haven't had much luck with the many MS therapies I've tried, although I did once get tremendous benefit from a large prolonged dose of IV steroids (which unfortunately later caused me to develop avascular necrosis (click here), an excruciating condition which I wouldn't wish on anybody), and I initially did surprisingly well on IVIG, which would be highly unusual for a patient suffering from a progressive form of MS. Overall, I'm still quite dubious of the SS designation, since I continue to have all kinds of weirdness associated with my disease, and as I've cut my swath through the medical community I've certainly left enough doctors scratching their heads in my wake. 

I'm currently pursuing a few different diagnostic possibilities, which I'll report on if any turn out to be worthwhile enough to write about. But, for the time being, I have at least one foot (the gimpy one) planted in the MS camp, as a possible (probable?) Solitary Sclerosis patient. On the bright side, I'm quite likely the first ever Jewish member of the SS, quite fitting for a patient who long ago named his lesion Adolph. 

Yes, nothing like some horribly distasteful humor to finish up an otherwise serious blog post…