So, I said at the start of my previous post that I got sidetracked by some things that happened...
What happened is before I had a chance to post it (and a second post that I wrote up but haven't quite finished yet), I had maybe the biggest rollercoaster of a week of my entire life. In the span of a week, my father, who I've been estranged from for just over five years, had a major heart attack and died... and then I got my big diagnosis.
I crashed incredibly hard from all the stress, both good and bad. Then I immediately had to get back up and put grief on the backburner, so I could keep running this medical marathon. A diagnosis isn't the end, only another beginning. All of a sudden I have to do tons of testing, start new medications, start on other new protocols, etc. It's going to continue like this for at least a couple months before some kind of new routine settles in.
While this should probably be a "better", more thoughtfully written post, the joint pain in my hands has been really bad again, and I'm flat out exhausted, so I figure it's better than nothing to get something imperfect posted so that any subsequent posts make sense.
Here's a slightly edited version copy/pasted from what I posted on Facebook a couple weeks ago after getting diagnosed:
WHO JUST GOT DIAGNOSED *AND* PRESCRIBED A FUCKING TREATMENT PLAN??? THAT'S RIGHT IT'S ME!!!!!!!!!!!
I just saw neurologist #3 who a friend tipped me off about recently - a Mayo trained neurologist who's worked with Sjogren's patients (even ones who don't meet the official diagnostic criteria but clearly have it) and just moved to Vancouver under a year ago. Unlike all those doctors who'd decided before I even walked in the door that I was lying or mentally ill, and not actually sick with a physical illness despite the GLARING EVIDENCE, this doctor was the opposite. She had basically decided I was really sick and that she was going to treat me, also seemingly before I even walked in the door - no doubt thanks to my awesome GP writing up a solid referral! My medical history and symptoms only clinched it - she was just like yep, yep, yep, yep. Didn't bat an eye, she's clearly heard this constellation of health issues many times before. And then instead of shrugging and telling me to go away because she didn't know what to do with me (like even the best of the doctors I've seen previously did), she said she knew what was wrong and was going to TREAT ME. It was like a DREAM. It still doesn't feel real!!!
(Note: see this post from a year and a half ago for reference - ridiculously after getting that far I was basically un-diagnosed with all of that over the past year as doctor after doctor shrugged me off, until finally seeing this new neurologist who actually knew what she was talking about!)
The diagnosis (which will surprise nobody who's been following along...):
1) Autoimmune Dysautonomia (Known by many other names like Autoimmune Autonomic Neuropathy and Autoimmune Autonomic Ganglionopathy - at this point I don't know what exact classification I may fit.) This is a form of autonomic neuropathy or autonomic nervous system failure, often caused by Sjogren's (see below) attacking nerves and neuroreceptors. The Autonomic Nervous System (ANS) runs everything that happens in your body that you don't have to think about. This is probably responsible for the largest and most life altering portion of my symptoms - it's why I can't stand up for more than a couple minutes (my blood pressure and heart rate don't regulate properly and I start to pass out), regulate temperature in heat or cold, can't digest food properly anymore (it paralyzes the GI system causing a whole bunch of problems), have swallowing and speech problems, and it also exacerbates the dry mucus/tear glands because nerves also control those.
This brief list of what it encompasses doesn't adequately communicate the breadth and severity of what's happening - hopefully I will be able to get into that in more detail sometime later, but in the meantime this page has a good overview and if you have time to watch it, the video at the bottom is particularly informative and hope-giving when they discuss treatment towards the end. I'm still learning more about this - I was aware of it before the appointment but there is a lot more to learn now that I actually have the diagnosis, and it's considered a rare disease as there aren't a lot of people diagnosed with it. Looking back, I actually see that my autonomic symptoms started much earlier than my Sjogren's symptoms, so perhaps this developed first.
2) Sjogren's This is a disease where the autoimmune system attacks all your exocrine glands (tears, mucus, saliva, pancreas) and in some people also epithelial layers (in the GI system, kidneys, lungs, etc.) and nervous system. This has always been the most fitting diagnosis for my symptoms that began 5 years ago. I started suspecting I had it based on my own research 3.5 years ago, and it took this long (including seeing 4 rheumatologists, 3 internists, 2 ophthalmologists, 4 ENTs, 3 GI doctors, and a myriad of primary care practitioners) to actually get diagnosed because NONE of them knew what they were talking about, except for 1 of the ENTs and 1 of the ophthalmologists, who were more apt to clinically diagnose, but whose opinions the rheumatologists (who are responsible for diagnosing it) dismissed. The new neurologist empathised with my frustration, and explained that rheumatologists who haven't worked with Sjogren's patients (which few here have - the only Sjogren's clinic in Canada is in Toronto) tend to rely very heavily on tests and diagnostic criteria for diagnosis (which are important when used for research, but can be overly restrictive in practice). I honestly think most of the doctors who dismissed it wanted to help but were simply not knowlegable about it, though there were a couple who were clearly rude and not trying to help. Why that lack of knowledge exists is a whole other question...
Sjogren's is an Autoimmune Connective Tissue Disease - less well known, but in the same family of diseases as Rheumatoid Arthritis and Lupus. This is a very basic overview that has a bit more detail. Severity varies, and its main hallmark symptoms are dryness of the eyes, nose, mouth, throat, and vagina (yes I said vagina - it's too important a symptom to leave out!), as well as joint pain and fatigue. Basically all mucus and tear glands shut down, and some people also get lots of systemic symptoms and complications in things like the pancreas, kidneys, lungs, nervous system (like me), but while these decrease quality of life, they're rarely life threatening enough for bringing out the "big guns" of immune suppressive treatments.
The Sjogren's diagnosis explains my joint pain, dryness, contributes to my voice problems, potentially also explains breathing issues, and even my severe osteoporosis (not 100% sure this is the reason yet, but a kidney defect from Sjogren's can cause osteoporosis), as well as the vestibular issues (dizziness/vertigo, tinnitus, etc.), chronic hives (a new hellish symptom I've had for the last year - "delayed pressure urticaria" and dermatographia, this deserves a post of its own too), and some of my GI and swallowing problems, and basically everything weird that started in the last 5 years. Connective tissue is everywhere in the body, so when it gets attacked it can affect pretty much everything. While I hope that some of this will improve with treatment for the Dysautonomia, I'm still in the process of triaging each different body part with specialists - an arduous and slow process.
3) This deserves its own point because of the impact it's been having - the neurologist didn't use the actual word - I think she didn't want to scare me, but I'm pretty sure she suspects I also have Gastroparesis (paralysis of the GI system). It's a common condition caused by Dysautonomia, and (along with perhaps some exocrine pancreatic insufficiency from Sjogren's) would explain my worsened GI issues the last 5 years, and my torturous reflux that's probably also responsible for messing up my voice and lungs. I've been trying to get on meds for this for a while (my GP had already started treating me) but have had problems with severe side effects.
Now, ALL of this is stuff I already suspected were strong possibilities based on the research I'd done and the few tests that've backed it up. Especially Sjogren's - despite not meeting the official diagnostic criteria, it just fit too well to ignore and there were no real alternative explanations. Something like half of people with Sjogren's never do meet the official criteria because they're so strict - something the rheumagology boards are still hashing out - and from my experience at least, the doctors in Canada are SEVERELY undereducated about this disease. You can imagine how amazing it was having a doctor who knows about it all say yep, yep, yep, you check all the boxes, this is a textbook case, this is clearly what's wrong with you. HALLELUJAH! I know it might sound weird to be happy about getting diagnosed with a terrible disease - but I already have the terrible disease, so finally having a diagnosis is like a miracle. It's the key that will open the door to managing this as well as possible and maybe getting me feeling somewhat better (or at least stopping the terrifying downward spiral I've been in - things have been scary bad for a while now and only getting worse every month).
While none of this is curable, it IS treatable, much like other autoimmune diseases! I hoped this might be the case, and it motivated me to keep advocating for myself for so long - you can't tell me it's untreatable until you know what "it" is! While I will never be completely healthy, even best case, I could feel a lot better and be way more functional if the treatment goes well. I've been prescribed a couple new symptom control meds to try: one for the GI motility issues, and the other to help keep my blood pressure up when I'm upright so that I can stand and do more activity again. Milder cases of Sjogren's are treated with Plaquenil, but I tried that a couple years ago and was allergic to it. Normally nothing stronger is used because the risks outweight the benefits (according to the medical panels who make these decisions - I bet a lot of patient would beg to differ), unless you have severe complications in critical body systems. But now, I fall into that category, which means I will actually get treatment for the underlying disease. I could cry, I am SO RELIEVED. Starting all these meds is a challenge in its own right, as I am extremely prone to hypersensitivities and side effects (apparently also very common in people with Sjogren's). I'm hoping to do pharmacogenetic testing, which recently became available (private pay only) in BC, to see if my theory about having some wonky metabolism genetics pans out - it'll bring much peace of mind when starting on medications with some more worrisome risks.
I have a bunch more specialised testing to do, and a couple other specialist appointments, in the coming weeks/month. And then after I go do GI motility tests so she has a baseline of my current function, she wants to start me on something called IVIG to treat the actual underlying illness. As you can read on Wikipedia, it's no joke to take, and having a history of med intolerance and drug induced aseptic meningitis, I'm trying to be realistic about what starting on it will entail, as well as the possibility I won't tolerate it easily. It's not an immune suppressant like you might know of people with autoimmune diseases being treated with (those are more risky and not typically used in people with Sjogren's unless kidney or severe lung issues develop). IVIG is an infusion of immunoglobulin (stuff in your blood that makes the immune system work) from lots and lots of healthy people that's distilled into goop they put into the sick person's body to kind of give them a normal functioning immune system. It doesn't suppress the immune system, so you don't have to worry about becoming prone to infections, but it also isn't as strong as some of the heavy hitter immune suppressants. It seems to work really well for this kind of illness in a lot of people. I don't know the exact protocol she'll be using yet, but it sounds like typically they give you a big initial dose (like hooked up all day for 5 days in a row), and then you do either once every couple weeks or once a month, or really whatever amount keeps your body from attacking itself. Potentially that treatment is needed for life when it's autoimmune disease related, but people with other kinds of dysautonomia can sometimes go into remission and be weaned off.
She wants me to start IVIG pretty sooner than later so I don't go downhill much more, but I'm sure it'll take a bit longer than anticipated to get all set up for. She basically said it was great that I got to her now instead of when I'm a lot worse. These things tend to be progressive and often by the time she sees someone their autonomic system doesn't function much anymore, ie. they're bedridden and needing feeding tubes or IV nutrition. I have met several people who are in that situation through patient groups and the chronic illness community, and it's no stretch to imagine things progressing to that for me. Because I'm still able to function somewhat - I can still eat some foods, and usually stand for a few minutes at a time - it'll make recovery a bit easier since there's not as far to go from where I am now. But I know I still have a long road ahead, even if everything goes well. I also have to start doing a prescribed reconditioning exercise regimen, to build my endurance and strength back up, and get on some protocols for drinking more liquids and elecrolytes... It's all a bit overwhelming, but I'm trying to take it a step at a time...
I'm still holding a light skepticism that something could go wrong - either her changing her mind (I've had bad experiences with doctors, so while she seems fantastic, nothing is impossible to me), or perhaps my not tolerating the treatment and not being given access to other options. I'm trying not to bother thinking about those posibilities until it becomes necessary - but it feels so unreal being diagnosed and prescribed real treatment after everything I've been through, like somehow it's going to be taken away from me. It's going to take some getting used to, and rebuilding trust in doctors and the medical system, now that I'm not navigating it as a "mystery illness" patient. I've read about this treatment, and it's clear a good portion of people have extremely good improvement on it, like miraculous improvement. Even after being really sick for years, some people can become (relatively) well again. Some people have only a moderate response, but very few don't respond at all or are too allergic to it to continue.
It is finally all real - all the things I've been researching, and all the many doctors appointments that didn't go anywhere or were seriously traumatizing... I wanted to give up so many times (especially when doctors told me to!) but I kept going and it's all led here. Everything I hoped could happen at the appointment did, all in one intake, it was almost too easy after all that slogging! I really didn't expect this all to happen just like that - it just goes to show what finding the right doctor can do. I have actual hope of getting at least somewhat better, and even if I have to be on treatment permanently, I'm just so grateful there is an actual treatment for the root illness that's stolen so much from me. And she didn't think it was likely I had some other kind of degenerative illness which was a HUGE relief and something I'd become worried about over the winter, as I started getting a lot of muscle weakness and swallowing and breathing issues, which have been kind of terrifying.
I'm SO thankful to the online chronic illness community - I probably wouldn't have found out about this doctor moving to Vancouver for quite a while if my friend hadn't thought she might have the right skills to able to help me, and told me about her (especially before her waitlist piled up!) She basically saved me from actually going to Mayo clinic, thank goodness - that would have been a massively expensive, exhausting ordeal, and while it was my absolute "last resort", it was only a couple months away from being put into motion.
Anyway, I think things are going to get a little worse before they get better - lots more tests including gross GI testing, many excruciatingly early mornings, and trying new medications are never a walk in the park - but now instead of working towards a diagnosis, I'm working on getting better. While some of my doctors and I think I may also have a childhood/genetic illness that has gone undiagnosed on top of all this, I can keep working on that in a less urgent fashion. I FINALLY have an official diagnosis for the main illness that's taken me down since my early 30's, AND a doctor who knows exactly what's up, actually wants to help me, and has the skills and resources to do it.
It's not a magic wand that'll make me all better, because that's not real life, but all things considered, this is about the best thing that could have happened right now. It's going to be a lot of rough times and work before I get over this final push, but I keep telling myself to keep my eye on the prize: stopping this illness from progressing, and trying to get at least some of my life back.
PERSISTENCE WINS AGAIN!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
ps: Seriously - undiagnosed people, don't give up. No matter how many doctors tell you you're crazy or just a complainer, or that there's no help for you and just to "accept" you're sick, when you don't even have a diagnosis... If you feel there is a real illness not being diagnosed (and so not being treated), KEEP GOING.
pps. I feel like I deserve a medal and maybe an honourary medical degree at this point, but Bruno also deserves an award for getting this far too, it's been such a marathon for both of us. I know what a privilege it is to have such a supportive spouse in a situation like this, and I don't take it for granted for a second. It would have been MUCH harder to get here without him.
ppps. Also a shout out to my new GP who I found last spring - she has been awesome and a total champ advocating for me and supporting me through all of this. I got realllllly lucky finally landing with her - having a good GP is life-changing when you have weird health problems.
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