My previous emails have been an attempt to provide a 15-year background and quickly catch up to the present-day. I’m almost there! When I last posted, I was discussing my Copaxone treatment, and mentioned that one reason that I had fallen “off the wagon” for a couple of days was because of an unusually stressful week that got me home late each evening and really just too tired to deal with the hassle and pain.
Well, there was another reason for temporarily stepping off the wagon…
I am not 100% sure of the diagnosis, and I wanted a second opinion. My neurologist assured me that Copaxone would not hurt me, if the problem ends up being something other than MS. However, the fact that I had an appointment with another neurologist coming up soon, was a de-motivating factor: why subject myself to possible skin damage and all that post-injection pain, if I find out next week that these injections are unnecessary, I argued.
On Wednesday, I went to an MS research clinic at Stanford University to see what turned out to be a very knowledgeable neurologist with an excellent bedside manner. Let me tell you, I really did my homework to prepare for this appointment. I had a single goal: convey some of the doubts that I have about my diagnosis, and see if she agrees that more work needs to be done to verify the accuracy of the diagnosis (my secret hope was that she would say there was sufficient doubt such that I should stop taking Copaxone). To kick start the meeting, I made the following timeline to help her get acquainted with me. If I do say so myself, I was quite proud of my handiwork. I put in a lot of time trying to figure out how to most effectively show all the weird (possibly related) symptoms I’ve experienced in my life, especially over the last 15 years or so. I hit upon a timeline approach (inspired by facebook, no less!) She seemed surprised and delighted when I whipped this out!
The solid blocks are what I consider to be major events that may be particularly meaningful to my condition. The double-arrow lines are conditions that persist over the indicated time periods. The large unfilled arrows indicate spans of time for conditions that seem to be increasing in intensity over time. The text that goes with those arrows is in boxes having narrower outlines, and with colors matching the outlines of the unfilled arrows so you can tell what text box goes with which arrow. Some of the symptoms may have absolutely nothing to do with a neurological condition, and other “events” may be completely irrelevant (such as my becoming vegetarian and vegan), but dammit, I’m a scientist, and I like lots and lots of data! I figured that she would, as well.
Dr. H is an amazing doctor, in that she balanced listening to the patient with gently controlling the direction and content of the conversation — she kept me from “going into the weeds” with unnecessary detail, and asked for more detail when she felt that she needed clarifications. After going through some of the highlights of the timeline, I asked some very pointed questions. Some of the things that I’ve read about MS just didn’t seem to fit my particular picture, and these things were in fact what were driving my doubt about the diagnosis. I have absolutely no doubt that something is wrong with me, but what if we are treating MS when something else is the real problem? Bottom line: My eyes are seriously degraded, and I feel like I am running out of time to save what sight I have left. I feel like I simply don’t have the time to waste in treating one thing, if that thing isn’t the root of the problem.
In case one of you out there is in a similar situation and would benefit from hearing what my specific concerns/questions to Dr H were, I am listing them below, along with Dr H’s response. She literally went through each one, one at a time, and gave her opinion on the topic.
1) My question: I know that MS patients always complain about hot weather/heat, but if given a choice, I would much rather be hot than cold. My hands and feet are like ice, almost all the time. This aspect, IMHO, doesn’t seem to fit the MS picture. Dr’s response: not all of her MS patients “hate” heat, but in fact, say the same thing I just said, that they are more cold-intolerant than heat-intolerant. She immediately rejected this “cold intolerance” as a reason to dispute the MS diagnosis.
2) My question: My MRIs never seems to change much, if at all. The MRI taken in 1997 shows a single spot in the right brain, and that very same spot shows up in the MRIs taken in 2006 and 2012. Furthermore, the 2006 MRI shows 3-4 total spots (one of those spots being the one just described, with the other 2-3 being on the other side of the brain), and those same spots appear in the 2012 MRI. The 2012 MRI shows no new spots relative to 2006. My understanding is that,with MS, spots come and go and that “enhancing lesions” should be visible. Enhancing legions are spots on the brain that show up on the MRI when a substance has been injected into the bloodstream that highlights areas that have a recently-compromised blood-brain barrior. So why haven’t new lesions formed over this large span of time, and why can I still see spots that are at least 15 years old? Dr’s response: She indicated that I am incorrect in thinking that spots “go away” over time … she stated that these spots represent brain damage, and that this damage does not resolve itself or ever just go away, and that seeing the same spot in MRIs taken years apart is entirely expected. With regards to not seeing new lesions, she said that just because I’m not seeing them on an MRI doesn’t mean that they aren’t there, that lesions can be small enough to escape detection by MRI. She also said that it is not uncommon that instead of the development of a new legion, for the old lesions to simply change in size and shape as a result of the disease’s continuing activity. With regards to my never seeing “enhanced” lesions, she pointed out legions are only enhancing for a brief period of time, and so it takes a bit of “luck” to catch one in that particular short-lived phase. At the time of my appointment, she had not reviewed my MRIs, and said she wouldn’t be able to elaborate further until she had done a detailed examination of the MRIs (I gave her ones from 1997, 2006 and 2012 to review). But for now, she rejected my observation that the MRI “never seems to change” as a reason to dispute the MS diagnosis.
3) My question: For a long time (since childhood), I have had this strange phenomenon occur every now and then: if I twist my head to one side, I get this excruciating pain that originates at the base of my skull, behind the ear, and then dissipates. The pain literally feels like a lightening bolt, and is over in a split second, often leaving a residual burning feeling in its wake, and my scalp is often temporarily tender where the pain originated behind my ear. Until relatively recently, I always thought that everyone had this kind of thing happen to them … I even had a name for it: I called it “a brain sprain” (sort of like twisting your ankle, but in the head, instead). When I’ve mentioned it to a few doctors in the past, they immediately called it the “L’Hermitte’s sign”, one of the hallmark symptoms of MS (but can be caused by a couple of other things, too). But here’s what was bugging me: in all the descriptions of this “sign” that I’ve read, the pain goes DOWN the spine to one of the limbs, and is not so much painful as it is uncomfortable, like a buzzing feeling. My experience did not fit this description (the pain is more than just uncomfortable, it is excruciating, and the pain doesn’t travel beyond my head), so if having a “L’Hermitte’s sign” is one of the things that was used as the basis of my diagnosis, I wanted to make sure that I cleared the air on this one. Dr.’s response: she agreed that this phenomenon did not sound like L’Hermitte’s sign, but didn’t know what it was. She said that the L’Hermitte’s sign is caused by lesions on the spine, and that the lack of having this sign did not dispute the MS diagnosis.
4) My question: With the exception of the optic neuritis attack, I can’t say that I’ve had distinct “relapse” events. Rather, my symptoms come and go very gradually (eye pain, tingly fingers/lips) and are virtually indistinct from my overall baseline feeling, such as the extreme fatigue that seems to be ever present. It’s not like I wake up one day, unable to move a leg, the way I imagine “relapses” are in MS patients. Dr.’s response: MS can attack parts of the brain associated with many different functionalities, and therefore I might not even realize when I am having a “relapse”. For example, if the area of my brain controlling emotions were under attack, I might not ever associate feeling emotionally under-the-weather with a MS relapse event. She did not accept this “lack” of distinct relapse events as evidence of not having MS.
5) My question: I don’t have mobility or balance problems, like I hear most MS patients complain of. My problem is almost entirely focused on my eyes, with another area of concern being my cognitive abilities (“finding words”). Dr.’s response: she cited some statistics, that eye problems were amongst the most common of MS symptoms, followed by sensory issues, etc, with mobility actually being one of the less-common symptoms, contrary to what I thought. She then gave me a thorough examination, which (to my surprise) revealed some minor balance issues (specifically, I was struggling to maintain balance when doing the heel-to-toe walk, and the test in which one stands with both feet together and eyes closed).
Dr. H took a very methodical, scientific approach to addressing my concerns. But unfortunately, she concluded the appointment with instructions to “continue taking the Copaxone”. She does want to follow up on a couple of other possibilities, however. I gave blood before I left the medical center, so that these tests could be started right away:
- antiphospholid syndrome (also referred to as “Hughes syndrome”, “sticky blood syndrome”, APS) — this disorder is caused by the blood having a tendency to form clots, leading to a list of symptoms that has surprising overlap with MS. Read more about this syndrome here (http://www.hughes-syndrome.org/symptoms.htm). Please join me in hoping that this disease is what I actually have! APS is easily treatable through blood thinners, and the symptoms can be reversed once one is on meds. As a safety measure, I’ve started taking a baby aspirin every morning. I haven’t received the APS blood test results yet, but I’ll post them as soon as I hear word.
- neuromyelitis optica (also referred to as NMO or “Devic’s Disease”)– this disease was once thought to be a variant of MS, but as recently as 2004, was determined to be a different kind of disorder that has some overlap in symptoms with MS. You can read more here (http://www.mayomedicallaboratories.com/articles/features/nmo1/index.html). The hallmark feature of NMO is its vicious attack on the RNFL and optic nerves, which I suppose is why Dr. H wanted to proceed with this test. Folks, the results of this test is what I am really sweating bullets over. NMO would be very bad news, given the long-term prognosis for my eyesight. Also, unlike with MS, there is no universally-accepted treatment plan(s) for NMO. The blood lab guy told me that it would take 9 days for the result to come back (the blood gets shipped for testing at Mayo Clinic, the only place in the world, apparently, that this specific test is performed). I gave blood on Dec 12, so 9 days later would be Dec 21. In theory, by next Friday, I will hopefully be able to check the “do not have” box on NMO. Until then, I won’t be sleeping very well at night.
I wish that all doctors had Dr. H’s methodical approach to diagnosis and treatment. The scientific method — construct a testable hypothesis, gather the data, test the hypothesis against the results of data, and then draw conclusions (which may involve outright rejection of the hypothesis, or simply tweaking the hypothesis) — has a place beyond just astronomy and physics. The scientific method is an effective and organized approach to life, in general!