Finally it’s firm!!!

Yeah, “that’s what she said.”

I’m talking about a diagnosis! Woo woo! The biggest step forward in my depressing medical life in a long time happened today. I don’t know if it’s the sort of thing one says “congratulations” in response to, but normally I’m all tears at the doctor’s, and today it was all smiles for a change. Even “failing” the strength test, showing that my shoulders are more affected than I’d assumed, didn’t bring me down (caveat: “at the time”). But let me tell the story from the beginning.

Ages ago I had a muscle biopsy (you may remember the awesomely gory photos) and the initial results were inconclusive with the folks who analyzed it writing the ambiguous comment “unusual muscle structures” or something like that. Because the genetic tests we’ve been doing for different forms of muscular dystrophy were negative even though various tests and various scans were showing that type of symptoms, and because the level of pain is somewhat atypical, my newer and more experienced doctors had the tissue sent over so they could take a closer look using their electron microscope. Here’s what they saw (this isn’t me though, just a picture I found on the net):

If I understand the right, the thing in the middle filled with the grid of circles is a muscle fiber. The thing is, it’s not supposed to be filled with that grid — the picture down below shows normal muscle on the left and muscle like mine on the right. They’re called tubular aggregates (BTW, it’s amazing to me how artificial they look), and I finally have a firm diagnosis, which is tubular aggregate myopathy. The good news is that even though it’s excruciatingly painful and debilitating, and has neither cure nor effective treatment, it affects only skeletal muscle and is thus rarely directly fatal. The horrible news is that it has a genetic cause, and that cause can be recessive or dominant and inherited, or caused by a random mutation… the reason that’s horrible is that it means there is a solid chance I’ve passed this curse on, and I feel just awful about that possibility, and have told my doctors that my top priority is in determining whether that is the case. Anyway, I don’t have too much to say because I only found out about this today and I’ve still got a lot to learn (and the internet is filled with conflicting and mostly useless info on the subject), so I apologize if I’ve made any mistakes in my explanation.

I have kind of mixed feelings about the diagnosis. Part of me was hoping to be told, once again, “sorry, we have nothing useful for you”, because that left the door open a sliver for the possibility that I was lying to myself and was just addicted to painkillers and didn’t know that I was faking everything. As much as that would have been horribly embarassing, it would have been easy to treat. That door is closed now, leaving me with something that can not be treated. It’s of minimal satisfaction to be “vindicated” and have hard proof that I’ve been telling the truth to everyone. That said, I really have to thank everyone who has stuck with me up to this point, most of all Caitlin and Nefarious and Dave and Saira, but also other friends, both real life and even those who I know only through kind words here on zentastic.

And other than that, we just got Netflix on the PS3 (and on Caitlin’s iPad for bedtime viewing), and wow, it’s awesome so far. Their selection of documentaries is incredible and there’s so much stuff I’m looking forward to that I’m not too broken up if I end up bedridden for a while! Overall, the day has made me feel pretty good emotionally, although I still feel horrible physically. Tonight Nefarious and I are going to enjoy some movies and a pizza, and tomorrow we’re rounding up all the scrap wood that I have lying around and building a big doll house (with the bottom story being a barn). I’m keeping my fingers crossed that I have the strength to survive the next two days.

42 Comments

  1. min0u wrote:

    Congrats on the diagnosis – if you need access to any literature that’s behind a paywall, shoot me an email.

    Friday, October 22, 2010 at 3:25 pm | Permalink
  2. bonnie wrote:

    I am so happy you have been diagnosed! I understand your concerns for Ari too, of course, and the need to get her tested (somehow)? Hopefully while there is still no cure, they may have ways to treat your pain or help with your symptoms…

    Friday, October 22, 2010 at 4:55 pm | Permalink
  3. PhilB wrote:

    You may not remember me, but I got one of the first run of BME shirts, and was on r.a.b. for years.

    I was sorry to read of your recent health issues, and am glad there is at least a diagnosis.

    Hopefully, there can be a way to make it more tolerable now that you know what you are dealing with.

    Friday, October 22, 2010 at 5:58 pm | Permalink
  4. Thomas Pfeifer wrote:

    Perhaps now that you have a solid diagnosis your health care providers will be more willing to find you more solid pain control methods? I hope the diagnosis improves things for you. :)

    Friday, October 22, 2010 at 6:30 pm | Permalink
  5. Gracie wrote:

    What to say about this? “Thank Heaven” doesn’t sound right, because a diagnosis of any illness isn’t really *good*. However, I am an optimist, so I’m choosing to see this as a good development. I’m so happy you finally have a firm diagnosis, and I hope that it gives you some peace of mind and any further tests go well. You’ve got a lot of people rooting for you!

    Friday, October 22, 2010 at 7:22 pm | Permalink
  6. Timothy wrote:

    “it affects only skeletal muscle and is thus rarely directly fatal” <– this is not to be overlooked, that is very important!

    While "Congrats" may not be in order, having a solid diagnosis is nonetheless a good thing, even if they don't have a cure. You have a starting point, and hopefully your medical team can assist you in finding some adequate pain management.

    Friday, October 22, 2010 at 7:37 pm | Permalink
  7. lish wrote:

    a diagnosis is awesome. & i’m going to congratulate you on it, because i think you deserve it. so, congratulations! & congrats to me too, because my friend shannon is unlikely to die with this diagnosis.

    Friday, October 22, 2010 at 8:17 pm | Permalink
  8. HighlyRefinedPirate wrote:

    I must say “congrats” but only to the peace of mind that comes with at least knowing what you’re dealing with. Not knowing what is wrong was a burden you had to bare for far too long and at least now you can put that to rest. It may be off topic, but the soaps molds are fantastic looking. Is a store still on it’s way?

    Friday, October 22, 2010 at 9:54 pm | Permalink
  9. HighlyRefinedPirate wrote:

    *Soap molds – not trying to mimic an eastern European accent or anything

    Friday, October 22, 2010 at 9:56 pm | Permalink
  10. Ryan wrote:

    congrats my good friend.
    im happy to know theres no more illusion as to whats going on, but im saddened to know that it has no known cure yet.
    im still saving my coins as im really looking forward to purchasing some soap and candles, so dont think ive forgotten about that :)
    speak with you again soon

    Saturday, October 23, 2010 at 1:44 am | Permalink
  11. Alli wrote:

    A diagnosis is always a mixed blessing but knowing, in the end, is always better. As horrible as a life of pain may sound, at least, unlike with muscular dystrophy, the end will be in your hands and having any measure of control is always a reason to celebrate because illness so rarely gives us even that. I am a physician and even though I am not a specialist in neurology I might have more access to medical journal articles (which your own doctors also have had access to but I have seen fellow physicians leave out important information regarding mortality and morbidity in order to offer patients “hope”) so if you want any additional information that google might not be able to provide, please just ask and I will find what I can. Good luck and best wishes with this illness and yes, congrats on finally having an answer.

    Saturday, October 23, 2010 at 4:29 am | Permalink
  12. Elizabeth wrote:

    A hand crafted dollhouse! Oh, oh, oh, oh, OH. Delightful and there can be furniture made, rugs knitted, etc. So.much.fun to be had I’m excited just to see it. Also, consider how many friends with little ones have only non toxic playthings. If you could create it, there sure is a need.

    Congratulations is definately not the appropriate word for this diagnosis BUT as you said, at least it is something. I do agree strongly with Gillian’s earlier comment that it could not hurt to seek holistic treatment. It’s wonderful and not the least bit suprising how many people care for you. You’ve done so much for us misfits. :)

    Saturday, October 23, 2010 at 10:39 am | Permalink
  13. for sure congrats are in order. theres defo light at the end of this tunnel !!!

    Saturday, October 23, 2010 at 11:23 am | Permalink
  14. hammerhead wrote:

    It’s good the diagnosis finally there. Unfortunatelly I don’t have my books there so I cannot check what they say on this, but will check on Monday…
    I know it can be difficult, but try not to rely on unverified internet information.

    Best of luck to you.

    Saturday, October 23, 2010 at 11:33 am | Permalink
  15. Twwly wrote:

    Well, well! Awesome you know what’s going on with your body. Really awesome. I’m really glad for you, well, with the exception of it being genetic of course.

    Scott’s first response was “what about steroids?” We know 100% ZERO about this disease, I’m off to Google. Anyway. That’s our totally uneducated suggestion! Steroids and perhaps I’ll take out the alfalfa and plant a field of poppies for you?

    Saturday, October 23, 2010 at 12:57 pm | Permalink
  16. Caitlin wrote:

    A field of poppies is nice either way, Ashley!

    Saturday, October 23, 2010 at 1:12 pm | Permalink
  17. hammerhead wrote:

    TWWLY, what made you think about steroids?
    Steroids work in inflammatory diseases. This disease is not inflammatory and there is no purpose for using them.

    Saturday, October 23, 2010 at 2:44 pm | Permalink
  18. Steph wrote:

    After reading your blog for several years now, it’s been blatantly obvious to me how frustrating it’s been not knowing.
    Curable or not at least you know now and it’s about damn time!
    Although it sucks balls that it can be passed on genetically.

    Saturday, October 23, 2010 at 3:43 pm | Permalink
  19. Shannon wrote:

    Thanks everyone — and there is one report of steroids eliminating symptoms completely for one older guy. I agree that it has potential, if it can help build muscle — even if it doesn’t repair any damage, maybe it can help balance things out by bulking up what does work.

    Saturday, October 23, 2010 at 6:50 pm | Permalink
  20. LotN wrote:

    I’m relieved to hear a diagnosis, as well. I was always afraid of a “bad news” entry from Caitlin following one of your long absences. I hope that now that everyone’s on the same page, you can begin to get the treatment you need (or at least the proper medication to manage the pain).

    Saturday, October 23, 2010 at 8:42 pm | Permalink
  21. hammerhead wrote:

    One has to be very cautious considering treatmnent based on single case in a heterogenous group of diseases.

    Have a look at this page – as you can see tubular aggregare myopathies can hav e various causes, and treatment which would work in some variants could be useless in others.

    http://neuromuscular.wustl.edu/musdist/lg.html#tub

    Sunday, October 24, 2010 at 5:14 am | Permalink
  22. Surinder wrote:

    Relief that finally there’s a name to the disease. May the force be with you :)

    Sunday, October 24, 2010 at 6:52 am | Permalink
  23. starbadger wrote:

    http://neuromuscular.wustl.edu/index.html

    lots of trees in that forest

    Sunday, October 24, 2010 at 8:32 am | Permalink
  24. Elizabeth wrote:

    In 2001 my husband had fertilizer dust blow into his eyes, a few days later he was not able to look to the left, went to a eye doctor. Among other symptoms, he had glaucoma at 32. The doctor referred him to a specialist at the UAB hospital in Birmingham who diagnosed him as having occular myasthenia gravis. He was put on mestanin after he started noticing reduced mobility in his left shoulder indicating that it was turning into full blown myasthenia gravis. After several weeks on mestanin he was pouring blood rectally, sent to another specialist for the round of cameras, etc then to a neurologist, a Japanese man who advised Chris that the steroids would kill him in less than a decade, his kidneys would fail even if his bowels were holding up and that off the record completely, were it him he’d move to where there was medical marijuana.
    Chris followed the advice of the latest specialist, especially since he had not enjoyed the previous years of not smoking and by the next appointment at the eye doctor the glaucoma was simply gone. I witnessed the eye doctor tell Chris in regards to the glaucoma (the lack of pressure) that whatever he was doing, he needed to keep doing it. With emphasis on whatever.
    Slowly, over thenext 18 months his other symptoms also alleviated and while technically he is in remission it is such that we have forgotten about it.

    Other than the persistant skin disorder on his feet that is reputed to have been caused by the MRI ink all those years ago.
    Fun. Anyway, sorry I didnt tell our story earlier but I only just now learned that your condition is linked with myasthenia gravis.
    God speed!

    Sunday, October 24, 2010 at 9:38 am | Permalink
  25. hammerhead wrote:

    @Elizabeth, the condition described by Shannon is linked to myasthenia only by the factm that it is related to nerves and muscles. Myasthenia is a disease of neuro-muscular joint, myopathies are diseases of the muscle itself.
    @Starbadger: Yes, the forest is huge and full of various trees, indeed. And even board certified neurologists who are not muscle-and-nerve specialists, may have huge problems distingushing larch from pine tree.

    Sunday, October 24, 2010 at 9:45 am | Permalink
  26. starbadger wrote:

    @Hammerhead – thank you for being here – except that you are not dealing with all the data and at a distance – even if you are a professional in the field which you may or may not be
    @Elizabeth – thank you for posting and making public a case you know (Chris) that turned out better than the best science – refering to my own case of being promised by the Drs. I’d be dead in a few years after cancer surgery and here i am 17 years later aborning not a dying.
    @shannon – closure is good and trusting they’ve got you right you’ve got more years to live than i do – of course you are going to do what feels right in your now – and right now i’d like to remind you that you need not spend a moment of your time worrying about the genetic question – her inheritance is as likely as seems the case with your brother – one of the strongest never used steroids humans.
    =================================

    Sunday, October 24, 2010 at 10:18 am | Permalink
  27. Ania wrote:

    Congratulations! hopefully it’s the first step to make things better!

    Sunday, October 24, 2010 at 11:55 am | Permalink
  28. Andrew wrote:

    Congratulations. I hope things are much better for you from here on in.

    Sunday, October 24, 2010 at 12:39 pm | Permalink
  29. Alastair wrote:

    Glad you’ve found out what you’re fighting. Good luck in the future.

    Sunday, October 24, 2010 at 2:28 pm | Permalink
  30. dresden wrote:

    Well, I’m glad your enemy has a name now. And at least you know it won’t kill you so you’ll get to see Nefarious grow up.

    Sunday, October 24, 2010 at 3:28 pm | Permalink
  31. Twwly wrote:

    Hammerhead – Half a joke, I mean, I need to make this clear, though I have hit Google since, we were just making a flip suggestion thinking “MAKE HIM BIG AND STRONG!”

    Nothing in ANY way meant as a medical or scientific opinion. Just the opinion of his two hick friends in Bruce County, who are pretty sure a little roids and opiates never hurt anyone.

    (JOKING!!!! Or am I…)

    Sunday, October 24, 2010 at 8:23 pm | Permalink
  32. LB wrote:

    Glad to hear that you have a clear diagnosis at last. It’s easier to fight something when it has a name.

    Sunday, October 24, 2010 at 11:51 pm | Permalink
  33. Greg wrote:

    Typing in the above info made me realise how gross your animation to the right is! Best wishes with everything, besides it’d be a fucking waste if you pissed off with out polishing of an autobiography of sorts. Your such an interesting bloke, it’d be lovely to read a bit more (I’m working my way through the blog from the start atm, after reading day to day for the last couple of years). Well if you ever pop over to Ol’ Blighty I’ll stand you a drink eh? Take care Shannon, Greg

    Monday, October 25, 2010 at 10:59 am | Permalink
  34. Shannon wrote:

    My autobiography is actually mostly written, and has been for some time… I just need to get an editor and then start filling in the blanks.

    Monday, October 25, 2010 at 11:23 am | Permalink
  35. Kiarelle & Gregorio wrote:

    Glad to hear you finally have a diagnosis! If anyone can beat back the disease you can. All the best, Kia & Greg

    Monday, October 25, 2010 at 8:37 pm | Permalink
  36. Greg wrote:

    Cool, well stick me down for a pre-order. (:

    Tuesday, October 26, 2010 at 8:47 am | Permalink
  37. Nygaard wrote:

    Congratulations Shannon.
    Not knowing whats wrong and how bad the situation actually is, is far worse than knowing what you will have to fight. Even if you have to face an illness that you probably will have to deal with for the rest of your life.

    I speak from experience and I sincerely mean it. Congratulations.

    Tuesday, October 26, 2010 at 1:48 pm | Permalink
  38. Jilary wrote:

    Have you checked out the pubmed website? They have 149 free text articles that contain “tubular aggregate myopathy”. It’s always a good starting point for medical questions.

    Also, as far as the genetics are concerned, neither of your parents have this disorder, right? So it is likely a recessive disorder in your case (unless you developed some new mutation, which is possible but unlikely). As it appears to be a rare disorder, unless Rachel is your sister or cousin that you never knew about, Ari’s chances of developing this disorder are likely quite low. Though it is something she should consider if/when she chooses to have children.

    BTW – I’m personally thrilled to hear this is a non-fatal disorder!

    Wednesday, October 27, 2010 at 6:14 pm | Permalink
  39. Mathew wrote:

    Congrats man! Knowing, at least for me, is much better than not. I’m not a stranger to your issues and it’s been a while since visited your blog so to “pop over” and see this news is awesome. Here’s to the future!

    Friday, October 29, 2010 at 3:56 pm | Permalink
  40. Tom wrote:

    http://7×7.us/UIe

    Late onset, slow progression…
    I’m hoping you enjoy high function and that it’s autosomal recessive or x-linked recessive. Feel well!

    Friday, October 29, 2010 at 9:58 pm | Permalink
  41. Craig wrote:

    You are not alone. We may have a rare disorder but together we could probably move a mole hill. Meet others and learn more on our website if you haven’t already found us. http://www.tamopathy.mysite.com.

    Wednesday, November 24, 2010 at 11:47 am | Permalink
  42. Denholm wrote:

    Greetings.
    I am 16 years old, and I was born with an extremely rare myopathy called Cylindrical Spiral Myopathy with tubular aggregates.

    Please contact me!

    Friday, May 10, 2013 at 12:32 am | Permalink
Wow Shannon, that's really annoying! What is it, 1997 on Geocities? Retroweb is NOT cool!

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