Monday, July 6, 2015

Back from the NIH: Unfortunately, Nothing Dramatic to Report

Well, I’m back from my sojourn to the nation’s capital in search of answers regarding my ever progressing and relentlessly stubborn illness. Sorry it’s taken so long to report back, but the trip left me pretty exhausted, and for the last week or so I just haven’t been myself. Oddly, I think I’ve been Ethel Merman, but that’ll have to be a subject for another blog post…

On the evening of June 23, Karen and I packed ourselves into a rented wheelchair accessible van and hoofed it down to Bethesda, Maryland (just outside of Washington DC) for a visit to the National Institutes of Health, where I was examined by members of their neuroimmunology and endocrine teams. I haven’t yet received a final report, but it doesn’t look like any new discoveries or insights were made about my condition. Despite the fact that I try to keep my expectations in check, this time around I thought that maybe, just maybe, some aspect of my disease would raise its ugly little head high enough to be recognized by one of the doctors handling my case. I’ve been feeling particularly cruddy the last several months, so I thought that perhaps some kind of shift might have occurred that would lead to an “aha” moment. Alas, it appears ‘twas not to be…

The NIH is the US government’s primary medical research organization, and is staffed by some of the best minds in the business. As a taxpaying US citizen who also happens to suffer from a chronic illness (and who is also a bit of a medical research wonk) my visits to the NIH are always interesting, if only to see firsthand our tax dollars being put to good use. For those qualifying for the NIH’s many ongoing studies, treatment is absolutely free, and the NIH Clinical Center, located on a sprawling campus packed with research facilities, is top-notch. Though I’m no longer part of an NIH study, once you’re in you’re in, and I’ve been making semi regular visits to Bethesda ever since 2009 in my quixotic quest for answers to my medical conundrum. Hey, I used “quixotic” and “conundrum” in the same sentence! Bonus points!

This time around I saw the MS neuro who is in charge of my case, Dr. Irene Cortese, as well as a member of the NIH’s endocrine staff. I underwent a full neurologic exam, had MRIs done of my brain, spine, and pituitary gland, lots of blood taken, and had few functionality tests thrown in just for good measure. All of this over the course of two and half days, which made for a pretty grueling schedule. Especially since the NIH doesn’t keep to my nocturnal ways, forcing me to acknowledge that yes, there is such a thing as morning. As a matter of fact, on day two of our visit I had to get up at the ungodly hour of 5 AM to be ready for an early morning MRI appointment, and getting up at 5 AM is NOT in my repertoire of favorite activities. As a matter of fact, going to bed at 5 AM is more my style. Maybe the NIH should have tested me for vampirism. Just call me Count Gimpula.

As I mentioned, I have yet to receive a final report, but I do know that my MRI images were once again unchanged, which is no surprise since they haven’t changed at all since I was diagnosed over 12 years ago. Same two lesions as always, one tiny spot in my brain (again termed “insignificant” and perhaps not even related to my illness), and a big juicy one right at the top of my spinal cord, where it connects to the brainstem. Not a great spot for a very invasive lesion, as there’s lots of important stuff going on in that area with little extra real estate available for any rewiring or other physiological workarounds. My neurologic exam confirmed that I have gotten significantly weaker over the last year and that my muscles have noticeably atrophied. Some of this atrophy might be attributed to all the weight I’ve lost, which in turn might be attributed to my endocrine problems. No surprises there, either.

Speaking of my endocrine problems, I was seen by a member of the NIH’s endocrine staff, a young “fellow” (this particular fellow happened to be a woman), who while quite diligent didn’t seem to want to even try to integrate my myriad endocrine dysfunctions with my neurologic problems. This is one of my pet peeves with modern medicine – it’s become so damned specialized that each individual specialist views the patient through their own very narrow lens, making it almost impossible to find someone to put together all the pieces of the puzzle. The situation is kind of like that old parable about three blind men trying to describe an elephant. One feels the trunk and thinks the beast is a very large snake. Another bumps up against the elephant’s leg and declares that he’s dealing with a tree. The third reaches out and touches the animal’s side and says he’s come across a wall. All very reasonable assumptions, but all quite wrong.

And here I am, presenting with a wide assortment of debilitating symptoms that to me scream “weird systemic disease”, but each specialist I see concentrates only on one very specific aspect of whatever it is that ails me. Sure, I suppose it’s possible that my neurologic symptoms are completely divorced from my endocrine symptoms which are completely divorced from some of my other strange findings, but common sense would seem to dictate that there must be some common thread running through all of them. But I guess I’m just the Count Gimpula Elephant Man who every now and finds himself turned into Ethel Merman, so why look any further? Shouldn’t I at least have my own reality show?

My pituitary MRI showed that I do not have a pituitary tumor, which counterintuitively might actually be bad news, since pituitary tumors are almost always benign and very treatable, so if I did have one something could be done about it. I do suffer from something called Empty Sella Syndrome (click here), meaning that the space in my skull that should be taken up by my pituitary gland is largely vacant due to the fact that my pituitary has shrunk or become flattened. Why? Who knows? I’ve never gotten an answer. I’ve known about this condition since around the year 2000, but somehow this further physical weirdness never seems to get fully factored in to my complicated diagnostic mess. Really though, since it's so evident that I'm the Ethel Merman Count Gimpula Elephant Man, why bother?

So, there you have it, a nutshell summary of my trip to the NIH. The actual trip itself was okay, aside from the fact that the hotel in Maryland decided to forget that I’d reserved a handicapped accessible room so I could barely get into the bathroom the first night of our stay (we didn’t arrive until after 1 AM and had to be out and about by midmorning the next day, so the mistake wasn’t calamitous), and getting back was a slow 7 ½ hour crawl through Northeast corridor traffic, which was none too kind to my crumbling hips. Still, nothing ventured, nothing gained, even if it doesn’t look like very much was gained. Who knows, maybe once the NIH doctors convene and go over all of my test results something will have revealed itself and I’ll be pleasantly surprised with the final report, but I’m keeping my expectations to a minimum.

Much thanks to everybody who sent me well wishes and notes of support, all of them greatly appreciated. In return, I give you this very private video of me recovering during the week after my return from my visit to Bethesda, when I still wasn’t quite myself…


28 comments:

  1. Hi Marc... do you think that this last round of testing and reports could inspire one of your NYC doctors to put two and three and a pinch together and come up with a deduction to pursue? Obvious softball question, but maybe someone's hyper-specialization is anothers' missing piece to a ponder about you. 'Thanks for sharing' never sounds sufficient. The road signs along the way are much appreciated...
    Tom

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    1. Hi Tom, well, next up on the agenda is a visit to an "integrative" physician who does some endocrine tests that a lot of doctors consider archaic but can still be of use in strange cases like mine. My neuro wants to hold off on making any treatment plans until after I visit this Dr., who is supposed to the little bit out there but brilliant, as well. So, the saga continues… Not gonna stop trying to kick down those walls…

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  2. Perhaps Tom Heeter is right. With all the data generated at NIH, someone there or elsewhere might have a brilliant insight. In the meantime, I am so sorry the outcome was not more helpful. And, you do an Ethel Merman impersonation really well.

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    1. Thanks for the kudos on my Ethel Merman impersonation. Go figure, of all the dead people out there, I have to channel Ethel. It couldn't have been Einstein?

      Still waiting on the final report from the NIH, and as I told Tom I've still got a few tricks up my sleeves…

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  3. Hi Marc
    Have you pursues the immunosuppresion route at all? I know you have an interest in EBV and hsct, maybe HSCT will take care of the Ebv issue. Evidently they don't know what uour issue is, so surely previously tried drugs that may have failed in ppms etc could work for you.

    I think there is something in Hsct and maybe something in it for you? Or even in neuroprotective drugs

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    1. I have tried many different immunosuppressives, including intrathecal methotrexate, but nothing has ever touched my disease. I'm a big believer in HSCT, but not for people with fully progressive MS. I actually discussed this with one of the doctors at the NIH, who fully backs the use of HSCT for relapsing MS patients, but said that it just doesn't work for people with no signs of active inflammatory action in the CNS. That would include me.

      Interestingly, this doctor told me that the immune cells that arise within the CNS (called "compartmentalized cells") react differently to immunosuppressive treatments than the cells in the peripheral immune system. Intrathecal Rituxan does not destroy the compartmentalized B cells as it does peripheral B cells when infused intravenously. Treating progressive MS will take a whole new set of tools…

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  4. Sandra SchneiderJuly 6, 2015 at 5:06 PM

    So Sorry the NIH visit wasn't more productive. Do others with Solitary Sclerosis suffer the same endocrine disruptions as you? Someone needs to light a fire under the asses of these Big Brains. We are more than just dart board to throw everything at and hope something sticks.

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    1. Hi Sandra, there are really so few cases of "solitary sclerosis" that I don't think any conclusions can be drawn from the population. The study that first identified "solitary sclerosis" only looked at seven patients. Who knows if solitary sclerosis is actually a thing, or just an aberration that happened to be identified?

      As far as I know the other solitary sclerosis folks didn't have the same kind of widespread endocrine dysfunction that I do, but some forms of endocrine dysfunction, such as Hashimotos thyroiditis, are quite common in the general MS population.

      You are quite right, we are more than just dartboards, but go tell that to the specialists…

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  5. Hold on to your intuitions. I think doctors forget nerves run through every cell. Glad you are going to NIH and reporting back. Research can help find treatments, cures, progression. Don't know how to coordinate the doctors of different specialties. Concentrate on your priorities, I guess. And good you write it out when the healthcare system is clunky, disjointed. Best wishes to you and yours!

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    1. Thanks for the best wishes, sending some right back to you. I am going to follow my intuition, which continues to tell me that what I'm dealing with isn't Multiple Sclerosis, or at least any form that's been identified by the doctors thus far.

      In many areas, our health care system is more than clunky, it's broken. More doctors need to take an integrative approach, but they aren't taught to think that way in medical school. Kind of ridiculous, really…

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  6. Did they check your MSRV env protein level ?

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    1. I don't believe they did test for that protein. I'm going to request that test next time I see my neuro… Not sure that many labs are currently able to test for MSRV at the current time. I truly believe that once the HERV's theory becomes more accepted that it will revolutionize the way medicine is practiced…

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    2. As far as I can understand MSRV is not once again the single trigger to MS but a significant contributor. A laboratory in Switzerland is currently making phase 2 trials on a drug impacting the protein with positive results on MS severity (progressive or not).
      I dream results will be successful and the drug available to everybody ! As to the test - I read there is still no way to do it without lumbar punction �� and that levels are very different from one patient to another.
      But I also dream we have one day a tool to measure it easily and that we have more to detect the intensity of our disease than the surface of the spots on MRI...
      Good luck on your side ��
      Best regards
      Vincent

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  7. Well, balls. (And I might have started singing Pretty Vacant about your pituitary space) We all assume that we're not going to hear anything miraculous, but somewhere in us, hope springs eternal (cause frig, if it didn't we wouldn't bother getting up). Recently I saw two specialists, in two different states (my neuro DIED, here in my small city of few doctors), and the difference in them was astounding, and kinda scary. One had the 'yea, well, you have MS' vibe, the other actually went through all my symptoms and how each one is/was being treated. It's unnerving (understatement) to feel that all the specialists are so hyperfocused on their specialty, that they think you are a wall, when you are an elephant. Frig. Fingers crossed for springing hope and SOMEONE to see the whole elephant. (forgive me if this posts twice, cause, MS)

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    1. Yes, Pretty Vacant indeed. I think these doctors are trying to drive me into Submission. Hey, maybe we can communicate using only the titles of Sex Pistols songs.

      Sorry that your neuro died, that has to suck. Anarchy in the USA, if you will. The difference between doctors can be astounding, but then again so can the similarities. I think many physicians fall victim to "groupthink", and this prevents them from ever getting beyond whatever script they've grown accustomed to following…

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  8. Sorry the trip was not more revealing. The whole specialist bit always bugs me too. I'd like to have my own doctor, researcher, lab and everything else useful and be able to do my own research. A quixotic conundrum. I always love your writing.Hoping they find something they didn't see before.

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    1. One of the reasons my neuro is my neuro is that he does have his own lab and staff of researchers, so he can follow whatever hunches he comes up with. He's quite the maverick, which works both for and against him. I think the scientific freedom he displays really irks others in his field, who are constrained by whatever universities or hospitals they are associated with. Thanks for the well wishes, let's hope they soon figure out something for all of us…

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  9. Thanks for the report. I'm sorry your doctors doin't seem to want to communicate with one another. You need someone who thinks outside the box, it seems to me.

    I too have Progressive MS, diagnosed in 1993. Could you please post a link to the NIH that would allow us (me) to check on possible trials going on that we could participate in?

    Thanks.

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    1. Hi Beth, I too wish that my doctors (actually, all doctors) would communicate more, but even when they do it seems very difficult for them to connect the dots. It seems that each specialist is so focused on his or her specialty that very few are able or willing to look at the whole picture. My GP has tried putting things together, however, my case is so complicated and convoluted that it appears to defy any reasoning.

      Sorry to hear about your diagnosis. Here's a link to the NIH's clinical research page:

      NIH Clinical Trials

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  10. This is completely random, but I think this is brilliant technology.

    http://aplus.com/a/scalevo-wheelchair-students

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    1. Hey, that is very cool! Having a wheelchair that can climb stairs would be very useful…

      Here's a clickable link for all of those who don't want to copy and paste:

      Stair Climbing Wheelchair

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  11. Muy bien compañero!!!, hay que seguir adelante!,
    permiteme compartir contigo este tema de John Hiatt que canta Thomas Quasthoff, uno de los máximos intérpretes que he escuchado y que me ayuda cuando estoy en la lona:

    https://www.youtube.com/watch?v=-C5jXN-feU0

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  12. With all due respect to Ethel Merman, and health concerns aside, your much better looking. Sorry to hear you have not been feeling too well and that the trip has thus far offered any insight. Let's talk soon,

    Harvey W

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    1. Harvey, love you buddy. I won't argue with you over Ethel's and my relative pulchritude, but I'd say, hands down, that these days she's the more spry. Even in her current condition – deceased.

      Yes, we must talk soon. My bad, I've been kinda doing the hermit thing lately…

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    2. Tried posting this the other nite but couldn't remember my Gmail password - so lost it all.
      Of course it was @5:00 in the morning and I was identifying with you and the vampirism syndrome.
      Then I was trying to figure out what a "quixotic" quest was. And that put my brain in dictionary mode (since the body doesn't work - gotta try to keep the mind working)
      Well after all that, I find myself in that "conundrum" of sorts which pretty much describes my life most of the time.
      This post makes no sense at all which also describes my life with this damn disease most of the time.

      Just me, Dee/OH.

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  13. Hey Mark... sorry your adventure was not very fruitful.

    It definitely sticks out to me that something hormonal is going on. With the whole 'pregnant woman' phenomenon, males generally faring worse... it definitely seems like there is some kind of endocrine or hormone component to this disease. With your withered pituitary gland, it makes a lot of sense. I think I remember an older entry where you talked about taking hormone supplements. Have your hormone levels normalized after taking these supplements? Hope you're feeling well. Well enough, anyway. Take care.

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  14. Hey Mark, I've given up the Quixotic adventures, The Impossible Dream still works though. I know its not just a function of government employment but applies in many situations. These people have evolved into risk adverse creatures. Its not conscious or planned, its no longer in the gene pool. The best you can hope for is an accident or more bluntly, a mutation. What is gained by going outside the box- criticism, liability and potential financial harm. Carry On my good and faithful soldier.

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