Image by Mathieu Struck via Flickr
When I started this blog, I was determined that it wouldn't be a treatment diary, so I haven't detailed the daily, weekly, and monthly ins and outs of my medical meanderings. Still, I've recently written about the fact that my diagnosis has been called into question, and I've received several inquiries in that regard. I thought it might be helpful if I gave a few more details about my mystery diagnoses, and how it's affected some of the treatment choices I've made and continue to make.
After my diagnosis of MS in March 2003, I quickly became uneasy with my doctor's conclusion. Like most other newly diagnosed patients, I immediately hit the Internet, reading all I could about the disease and interacting with dozens of patients on MS forums. The more I investigated, the less convinced I became that I actually had multiple sclerosis. Yes, two lesions did show up on my MRI, one tiny spot in my brain, and a much larger and more troublesome lesion at the base of my brainstem. Tests on my cerebral spinal fluid, though, revealed no Oligoclonal-bands (click here), telltale signs of CNS immune activity that show up in a majority of MS patients. O-bands are a bit less common in patients with progressive MS, the flavor of the disease I was suspected of having, but still, their lack fueled my reason to doubt.
Additionally, I had a variety of peculiar physical symptoms and some health history that just didn't seem to mesh with a diagnosis of Multiple Sclerosis. About six years before my first MS symptom struck (a slight limp in my right leg, which has since progressed to severe weakness and spasticity in my entire right side, and progressing weakness on the left), I was suspected of having Discoid Lupus (click here), a form of Lupus that attacks the skin. Although that diagnosis was never quite nailed down, my doctors at the time were confident that I did have something very strange going on in my immune system. After approximately 3 years, my Discoid Lupus type symptoms (small skin blemishes that left tiny crater shaped scars, hence the word "Discoid") burned out, to my considerable relief. Soon after, though, I was diagnosed with Hashimoto's Thyroiditis, an autoimmune disease that destroys the thyroid gland. I started showing signs of other types of endocrine dysfunction as well, indicating a cascading failure of my pituitary gland. Although Hashimoto's Thyroiditis is often seen in patients with MS, pituitary problems are not. About three years after these endocrine problems surfaced, my telltale limp showed up, and I was soon given the MS label.
About a year into my MS saga, I switched MS doctors and started seeing my current neurologist. He immediately suspected that I might be suffering from some other disease (he suspected Neurosarcoidosis-click here), and ordered an extensive battery of tests. When none came back positive, he deduced that Primary Progressive Multiple Sclerosis was the most likely diagnosis, and so the initial determination stood.
Since there is no actual test for MS, determining whether a patient suffers from it is a diagnosis by exclusion. The physician explores other possibilities that might explain the patient's symptoms, and if none pans out, the diagnosis of MS is assumed. In many patients, multiple sclerosis makes itself readily apparent. A relapsing remitting course of disease, the occurrence of enhancing CNS lesions on MRI images, and the presence of O-bands in the cerebrospinal fluid are all highly indicative of a multiple sclerosis diagnosis. Cases of the disease that are progressive from the outset are harder to diagnose, as there are quite a few maladies that can mimic progressive MS (click here).
Despite the fact that progressive MS is notoriously hard to treat, and there are currently no approved treatments for PPMS, I am not the type to sit around and do nothing while some insidious enemy hacks away at my body, and my neurologist is known for his aggressiveness in fighting the disease. We embarked on a comprehensive battle to attack my disease, which has included a wide variety of treatments, some quite outside the box, which are literally almost too long to list. Suffice it to say, none has had any effect whatsoever on the course of my disease.
Along the way, my illness has shown itself time and again to be extremely atypical, most notably in the fact that my MRI images have never changed. The two lesions that showed up in 2003 are still there today, and have never altered in size or appearance, or been joined by any others. MRI images of my CNS taken eight years ago are indistinguishable from those taken six months ago. Because of all of the atypical features of my illness, I eventually decided to seek another expert opinion, and was seen at the Johns Hopkins MS center in the winter of 2006. After undergoing a rigorous series of tests, Johns Hopkins also concluded that although my disease was certainly strange, they could find no indication that it was anything other than atypical PPMS. During the following few years, I kept in contact with the doctors at Johns Hopkins, and in 2008, after I sent them some recent MRI images (which remained unchanged) and explained that my disease had progressed significantly, it was requested that I come back down to Baltimore for another examination. This time, the doctors concluded that I very likely did not have MS, but they could not come up with a suitable alternate diagnosis. Several were suggested (Sjogren's disease and mitochondrial disease among them), but further testing ruled out these other illnesses.
At this time, I was accepted into a study being conducted at the National Institute of Health's main campus in Bethesda, Maryland, which was seeking to identify patients with clinically definite multiple sclerosis for use in further MS research. The NIH was finding that many of the subjects they were using in their multiple sclerosis research studies were actually misdiagnosed, and these misdiagnosed patients were polluting their research data. Over the next 18 months, I made four visits to the NIH's tremendously impressive facility outside of Washington, DC, during which every conceivable test was conducted. At the end of the process, the NIH declared that my test results and disease presentation did not fit the definition of multiple sclerosis by any known diagnostic criteria, but they too could not come up with a reasonable alternative. Needless to say, the situation was, is, and I'm sure will continue to be incredibly frustrating.
My primary neurologist here in New York, who runs a state-of-the-art research laboratory in addition to his clinical practice, recently did an extensive analysis of my spinal fluid, which turned out to be so strange that he had the analysis, which took several weeks to complete, repeated to confirm the results. Unlike many other MS patients, my neurologist and I have a very comfortable and frank relationship, and he told me just how bizarre my spinal fluid scans were in very colloquial and colorful language (I'll let you use your imagination to fill in the blanks).
Since it now seems likely that I'm suffering from either a) one of the strangest cases of MS on record, or b) some other autoimmune process that is attacking my central nervous system in addition to various other bits of my anatomy, my neuro suggested that I try IVIG (click here), a treatment that has been shown to be effective in some cases of MS, and perhaps more importantly for me, a variety of other autoimmune conditions that can attack the CNS. IVIG is a blood product made up of the antibodies of over 1,000 blood donors, which has been shown to attenuate the aberrant immune response seen in a variety of diseases, and is typically given monthly. Since I have a history of experiencing unexpected and sometimes frightening side effects from new medications, we started out by doing half a dose of IVIG about a month ago (the treatment is usually given in two infusions over two days, but I only did one infusion the first time around). I didn't suffer any negative side effects, so later this week, on Tuesday and Thursday, I'll be doing my first full dose of IVIG.
Many of you are probably asking yourselves where CCSVI fits into my treatment picture. I had my first venoplasty about 13 months ago, which did reveal a blockage caused by a muscle pressing on my right internal jugular vein, but no other readily apparent venous abnormalities. Unfortunately, the muscle bundle is currently impossible to treat using the available treatment modalities, as ballooning would have no effect on the pressure being put on the vein by the muscle, and a stent would likely be bent out of shape, and possibly fracture, due to that same pressure. It is also uncertain as to whether the muscle bundle is causing significant disruption to the perfusion of blood through my central nervous system (Dr. Zamboni himself had a look at my images, and cast doubt as to the significance of the blockage). I had been planning to undergo another CCSVI treatment procedure sometime soon, because of the advances that have been made in the treatment protocol in the 13 months since my first attempt, but I've decided to put this off for at least a few months in order to properly ascertain whether or not the IVIG is having the desired effect. Doing a CCSVI treatment now would only muddy the waters, and the blood thinning regimen given after the procedure could interact with and/or interfere with the action of the IVIG.
I recently underwent a Doppler sonogram done to the Zamboni protocol, which did reveal signs of CCSVI (confusing, since my initial venoplasty did not reveal these abnormalities). This further blurs the issue, as it's become quite clear that I likely do not have MS, and CCSVI has been shown to have a high correlation with multiple sclerosis. However, recent studies also seem to indicate that the venous abnormalities known as CCSVI may also be prevalent in other neurologic diseases, so I very well could have both CCSVI and a disease other than multiple sclerosis. If the IVIG doesn't do it's stuff, I will definitely revisit CCSVI, very likely sooner rather than later. Even if I do experience benefit from IVIG, I'm inclined to undergo another venoplasty sometime in the not-too-distant future, to investigate the blood flow abnormalities indicated by the Doppler ultrasound. As I've written before in this space, waiting on getting a CCSVI venoplasty done is not a terrible option, as knowledge regarding CCSVI is constantly growing, and the treatments used to address it are evolving by the day.
As I'm sure you can imagine, this has all been extremely hard to sort out, but I'm now comfortable with my treatment decisions going forward. Despite the questions surrounding my diagnosis, I still consider myself an MS patient (since no other label really applies), and the experience of my disability progression is identical to that of a patient suffering from aggressive PPMS. In spite of the confusion and distress caused by all of this uncertainty, in a way not having a diagnosis gives me some reason for optimism, as it could turn out that whatever I have is more treatable than PPMS. I continue to hope that some brilliant doctor, upon examining me and going over my voluminous record of test results, will suddenly exclaim, "Eureka! You're suffering from the most advanced case of Cooties I've ever seen! Simply eat 10 red M&Ms a day for the next two weeks, and you'll soon be running marathons…"
Hey, if you don't have dreams, you have nightmares…
Ours is not a club you wanted to join. Though fairly exclusive, the MS club is not one anyone is stampeding [sic] to get into. It has little prestige or reward. But your presence in the club, even if you were to exit it tomorrow, has been transformative and inspirational in an enduring way. We owe you a debt of gratitude. I’m sure every one of us would wish for you to find that cooties diagnosis that would permit you to run out of our exclusive gathering. In the meantime, we’re glad to have you, Marc. You are a mensch.ReplyDelete
I've been trying the M&M cure for months now and now getting too much progress...but I'm happy!ReplyDelete
On a more serious note...good on you for being so proactive in trying to find solutions.
I'll buy you the M&M's. Stay positive Marc, it is the only way to be!!ReplyDelete
Hope all goes well for you..Take care..ReplyDelete
I was on an IVIG clinical trial and it did wonders. Not a cure byt any stretch, but improved energy and mental focus.ReplyDelete
Good grief, what a story. No matter what, we'll always think of you as one of us!ReplyDelete
Dang it! Where is Dr. Gregory House when you NEED him????ReplyDelete
Wish you the very best of results, Marc. You will still have the option of CCSVI treatment down the road, and it seems that there are new and improved techniques with that treatment option unfolding as time goes on. Take good care!ReplyDelete
Dr. Gregory House might be a little to hoped up on vicodin but maybe 13 could be of some assistance.ReplyDelete
Here's hoping that the IVIG is of some help until they find further improvements with CCSVI. I'm a strong believer in the proper flow approach to this unwanted guest. I've had MS for half my life and of the 24yrs since dx the last 5 was a regular struggle until I had venoplasty. I'm not rid of my scooter yet but I am finished with virtually requiring a washroom at arms length, and I only have to siesta if I choose to. Here's hoping that you can take the CCSVI procedure out for a test drive in the near future.
I wish you all the best in your new treatment. I haven't done the extreme amount of testing and dr.s that you have, but I also wonder about my diagnosis..thinking about the ccsvi, too.. it seems to be so difficult to choose a direction sometimes, but your posts are fantastic, and they help me find some things to research thank you for all that you offerReplyDelete
I certainly identify with your diagnosis conundrum. I am not progressive like you are, but there are so many parallels between our cases that it is uncanny. I am labeled as atypical MS for now. My neuro also thought IVIG might be the answer for me, but couldn't get insurance to agreee. Maybe someday M & M's can cure me, too.ReplyDelete
Stay away from the green m&m s legend has it they are an aphrodisiac and Karen doesnt need to be bothered! Dirk DigglerReplyDelete
I have tried the martini treatment and the Haagen-Daz treatment, but not the red M & M treatment. So maybe that is what I've been doing wrong!ReplyDelete
Much luck with the IVIG. I am rooting for you!
Just had to tell you, the word verification for my last comment was 'trust'. :) Maybe it's a sign? Again, sending hugs and healing thoughts.ReplyDelete
Hope IVIG brings you answers and relief. I agree with Jen re Dr. House.ReplyDelete
Judy-I think it was Groucho Marx who said, "I wouldn't want to be part of any club that would have me as a member." Whatever it is I have, I'm sure it's related to MS, so until proven otherwise, I will continue to soldier on as always. Thanks for the nice words, but you'll not be rid of me so easily…ReplyDelete
Quilter-well, the M&M therapy sure is more pleasant than injections or infusions. As for being so proactive, I think it falls under the label "trying to save my ass"…
T mom-thanks for the offer on the M&Ms, but I think the remedy only works if you buy them yourself. I do stay positive, or as positive as possible. It's all a question of mindfulness…
Anonymous-thank you, and same to you.
WW-well, that's encouraging. I'll certainly be reporting on how this "experiment" goes…
Daphne-have you ever seen the old movie "Freaks"? It was made back in the 30s, and featured real-life freaks from a circus sideshow, who sing a really creepy song near the end, the chorus of which is, "one of us, one of us…" It's a very creepy movie, and well worth a watch, if you're into creepy movies…
Jen-indeed, where is Dr. House? Funny thing is, in almost every other show his team seems to be ruling out multiple sclerosis for their patient of the week. I like the show, but sometimes its depiction of medicine leaves a lot to be desired…
Prairiegirl-my thoughts exactly, regarding CCSVI. Things are constantly evolving on that front, so waiting is not necessarily a bad choice. In the meantime, I'll show a little patience and give the IVIG a chance. Thanks for your kind words.
Wasagaman-yeah, 13 definitely couldn't hurt. Thanks for your well wishes, and I'm glad to hear of your improvements after CCSVI treatment. Here's hoping that you get rid of that scooter soon…
Veronica-I'm happy to hear that my blog has been of some help to you. It is difficult trying to chart a course through this disease, especially when you're not sure if you even have this disease. Good luck in finding your path through…
Holly-I hate that word "atypical". Sorry about your insurance rejecting the IVIG. Talk about rationing healthcare. Hoping your mess gets figured out soon…
Dirk-I think it's only the green M&Ms with nuts that have those properties.
Marie-the martini and Häagen-Dazs treatments might not have worked, but at least you treating yourself well. Thanks for your words of encouragement! And also for news of the good omen, you can't have enough of those…
Carmen-thanks for your well wishes, and if you find Dr. House, please be sure to direct him to my blog…
hope the best for youReplyDelete
maybe you don't have atypical progressive MS but an atypical other disease.:-P
I can really relate with you as I too have thyroid disease and my first heart attack at 54. Drs say probable Ms relapsing remitting, diagnosed in 1991, still looks the same on MRIs and most time I feel the same unless of course I am relapsing. Lately the relapsing is more and more. Sincerely, CindyReplyDelete
Did you read 'The Paleo Solution' yet? Also check out podcast #8 from the healthy skeptic. Three geniuses, 1 a Harvard PhD biochemist, discuss the autoimmune protocol. Chris Kesser is a bit of a Dr. House.ReplyDelete
I love the acronym SNAFU. It concisely sums up so well, so often, how life goes with MS. Or whatever it is you might have.ReplyDelete