Diagnose-ish

I'm sitting at home, while Bruno is out at a concert, trying to use voice dictation to write this post. I've been meaning to write this for a while, to update on what I posted a couple, or make that four months ago, but I've been having a bad arthritis flare, so I have been putting it off since typing feels like hot daggers in my finger joints. Voice dictation is a last resort - it doesn't work great, and since I still also have problems with my voice, it's just wearing out a different body part. Communicating is hard! I momentarily thought about doing a video blog, but I have one friend who is deaf and occasionally reads my posts, and I know I wouldn't be able to transcribe the video myself, so it just doesn't feel like a good option. We'll see how this goes, thanks in advance for extra typo/punctuation forgiveness!

I was glad to have this past week off from medical stuff, as I've been having a marathon of doctors appointments these last few weeks. This week is another doozy (including an early morning MRI with IV contrast - fun, fun), but I'm hoping things will calm down after that. After all of this slogging, I'm finally coming to the point where I've exhausted most of the options and routes towards figuring out why I've gotten so sick. But even though I was told over and over again that there was nothing to find, and that I was just stressed and not coping well with having IBS and chronic fatigue syndrome, my persistence has paid off. My diagnoses may not be the most concrete or common, but I finally do have some real answers.

Number one: EPI (and still IBS)

The consensus is that the EPI is real. (EPI = exocrine pancreatic insufficiency) There's no way to be certain about the cause, and most of my doctors think it's just as likely that I've pancreatic issues since I was a child, as that it's something newer. Pancreases are not well understood, and as my gastroenterologist noted, there is a lot we don't know about genetics and the immune system and how these all intertwine. Doctors tend to believe the pancreas, when weak, eventually burns out and ceases to produce adequate enzymes to break down food and provide proper nutrition, causing unpleasant symptoms as a side effect of not digesting and absorbing the food. My doctors and I believe that I also have IBS, so it's difficult to know where one starts and the other ends. Although my doctors don't know much about it, a rare complication of Sjogren's syndrome can be EPI. Because my worsened digestive symptoms and overall illness coindcided with when the Sjogren's symptoms began, my suspicion is that they are connected. But there is no way to know for sure.

The prescription enzymes that I'm taking are still helping, but I have not been able to tolerate a high enough dosage to completely resolve my symptoms. That means while I'm not as sick as I was at Christmas, and some things have improved, I'm still much worse off than I was a year ago, there is no prospect of things improving much more. My diet is extremely limited, I still have symptoms on a daily basis, and the reduced absorption and malnutrition continue to affect me. But many days I am able to leave the house for a short time with the help of my mobility aid, and I'm grateful to be able to do that at all after many months of being housebound and in and out of the bathroom all day. Sometimes I don't even realize how much I miss being a person in the world until I am out there again.

Number two: Sjogren's ...probably?

I can finally say this for sure: I do have an autoimmune disease. After years and years doctors telling me and treating me like I'm just stressed, that my illness is somatic/psychological, that I'm exaggerating, that it's "just" IBS or chronic fatigue syndrome, I have started to think that no one would ever believe me. I knew deep down something else was going on, but even after I got diagnosed with osteoporosis (a condition that is NOT caused by IBS and is highly unusual at my age), I was still dismissed regularly. It was very confusing to me, especially these past few years where I've developed classic symptoms of Sjogren's syndrome - dry eyes/nose/mouth, severe joint pain usually without inflammation, and severe fatigue - a disease that I had never heard about before its symptoms set in, but now it appears to become part of my life.

I couldn't say for sure until a couple weeks ago when I finally got positive test results back, and it's still not completely certain, but it seems that I likely do have Sjogren's syndrome, or if not that then another kind of autoimmune connective tissue disease (CTD), those include Lupus, Rheumatoid Arthritis, Scleroderma, and Mixed Connective Tissue Disease (when you have some combo of these). In my mind, there's no longer any doubt that I do have Sjogren's - whether I also have something else, and whether the Sjogren's is primary or secondary, only time will tell. There was a brief concern that I may have a more serious autoimmune disease, IgG4 related disease, since my IgG4 levels are elevated, but for now my doctor's believe this is being caused by the Sjogren's/CTD, which is something that happens occasionally. 

In any case, between discovery of my having elevated IgG4 levels, and finally getting the test results back from the "Sjo" test we went down to Seattle for a couple of months ago, there's no longer any question - I definitely have autoimmune disease activity going on in my body. The "Sjo" test looks for a new set of antibodies for Sjogren's syndrome which show up earlier in the disease, so the test is more sensitive than the standard tests available in Canada. I tested positive, but until these new antibodies are included the official diagnostic criteria, my diagnosis will not be official - ugh, annoying.

It's frustrating, but there is enough evidence now that my doctors agree I do have an autoimmune disease, so an official diagnosis despite being something I wish for, would not actually provide any change in my treatment plan. I can live with that for now.

As a sidenote: we are unsure whether the EPI or this Sjogren's/CTD is the root cause of my osteoporosis, but much like the EPI there is no concrete way to determine this.

Number three: POTS?

One of the reasons I had to start using a mobility aid is because I've been experiencing severe and debilitating fatigue and dizziness for quite some time now. Initially this was chalked up to being because of chronic fatigue syndrome, which for the record I've never been officially diagnosed with and I don't even meet the diagnostic criteria for. I have problems with my electrolyte levels for several years now, and I've been having some strange test results when it comes to my kidneys, so nothing is sure at this point. But one possibility that has come up is that I may have a condition called postural orthostatic tachycardia syndrome aka. "POTS". Orthostatic intolerance simply means that my body can't maintain adequate blood pressure when I'm standing. This causes me to get very dizzy in fatigued when I have to stay upright, walking or standing for very long. Standing is actually the worst, because at least when I'm moving movement helps to keep the blood pumping. When I'm standing still, this is when I get the most dizzy, and before I started on the pancreatic enzymes, and had the malnutrition on top of the orthostatic intolerance, I have started to get tachycardia and also chest pain during the worst episodes when I stood up for too long (that hasn't happened again since starting on enzymes though, so yay!)

Because this hasn't resolved significantly enough, my rheumatologist wants me to get tested for POTS in case that is compounding the problems. There are some treatment options for POTS, so while the last thing I need is one more chronic condition, it would be useful to know if I do have it, so I can see if any treatments would help. At the very least, I may be able to finally clarify once and for all that I do not have fibromyalgia and chronic fatigue syndrome at all. These "diagnoses of exclusion" were given to me without the necessary step of thorough exclusion, and they've made it infinitely more difficult getting medical care with a confusing and complex file/history, plus being labeled a "difficult", patient with somatic (aka. stress induced) illness for so long. I need to write a whole other post on the harm these labels cause.

What lies ahead

So now what? There still some more appointments to be had, and a few more tests to get through. But I'm very much looking forward two getting off of the diagnosis rollercoaster, and figuring out what it means to live with these conditions. Not to mention using my energy for, you know, other stuff (not medical appointments). The downside of my particular diagnoses is that not every diagnosis leads to a condition that is treatable, or improvement. The word "chronic" by nature means forever, and unfortunately the conditions that I have are not well understood and do not have any cures, and only limited treatment options. My prognosis is not optimistic, even though, of course I still am. It's unlikely that I'm going to get a lot better, but with any luck I will also not get a lot worse than I am right now. After the downward spiral I experienced over the winter, while I wish the prognosis was better, I'm trying to accept this as good enough. Knowledge is power, and I'm hopeful having a better idea of what's wrong will allow me to learn more and refine how I'm managing my conditions.

And I will be trying one medication that has been offered to me to treat the Sjogren's syndrome/CTD, and could possibly significantly improve my joint pain, and maybe even the fatigue. It is considered an "antimalarial" class drug and is an immunomodulator medication - it's the first line medication for people diagnosed with Lupus, Rheumatoid Arthritis, and severe Sjogren's or mixed or undifferentiated connective tissue diseases. While my doctors are not too confident that I will be able to tolerate the medication side effects (it can cause terrible digestive issues, even in people without digestive problems), many people see significant improvement on it, and it can also prevent future complications. It can take up to six months to tell if it's working, and I plan to start it in about a week. If I can't tolerate it, I probably won't be offered any other meds, as they are too risky for someone who's "only" debilitated and not having their life threatened by their illness. (If you're wondering why they don't give me steroids, a common med for inflammatory/autoimmune diseases, it's because of the osteoporosis - I'm not allowed steroids due to it.)

The future is a great big mystery even after getting some answers, but there is relief and peace in the validation and knowledge I have worked so hard for. I'm committed as ever to figuring out how I can live the very best life possible, within the constraints and realities of someone who is disabled by poorly understood illnesses, in a world where disability it's not seen as acceptable/normal. I continue to struggle with knowing a person's value and right to live a good life is very much defined buy their ability to participate in the economy as a "productive" participant - and that my ability in that sense is still very much diminished and unknown. I will always wish things were easier now, and had been easier for me when I was younger too - invisible and rare illnesses suck. But I'm glad to still be here - to forge ahead into these uncharted territories of living with illnesses that are relatively new to me after a lifetime of vague sickliness, and to keep figuring out how to make this all work as best as I can.

Comments

Wow, a diagnosis or several diagnosisishes , so how long has this taken you? As someone who has been chronically mysteriously ill for all my adult life, I applaud you for your determination. I cannot get my doctor to do anything, it's all in my head. Best wishes in finding ways to heal and live well.

Thanks for the support - it's been VERY trying, especially to keep going as I know 100% that this isn't it, and there are still some major holes in the current "diagnosis". 

As for how long, ugh.... It depends how you count. Either 28 years (when I first developed health problems), or 15 years (when things started getting worse), or 4.5 years if you want to count when I became too ill to keep working and started really trying to get medical help. It's absolutely maddening.

I'm still quickly losing more and more use of my hands, getting worse joint pain, getting worse GI issues - I'm finally getting some more help with getting testing for that, only because I took matters into my own hands and contacted a pancreatic specialist directly. Still really struggling with the rheumatology side of things. Every step of the way doctors have told me there's nothing wrong, even once my tests started showing there clearly is! I really don't understand, but I refuse to lay down and shrivel away. Grrrr!

Sending strength to keep advocating for yourself, and sending much understanding for how frustrating it is, and how traumatizing it can be being told it's all mental. <3

Hi Ariane,
I dont know you but I just came across your post and it rang a bell big time with me. I have struggled with some similar issues, although not as bad now. I have gotten better but it has taken me years, just like you. And when I say better, I am no longer in a constant state of fight or flight but I still have massive flare ups that take me down for weeks/months at times. But I like you, suddenly got very ill but had been struggling with gut, CFS and anxiety issues long before...like you, DRs told me probably IBS and CFS from stress. Then I dropped 40 lbs rapidly, was dizzy, couldnt stand long, blacked out often. The only food I could keep down was bone broth. THEN, my whole family became asthmatic, this was a blessing in disguise. Our home was full of mold! My daughter and I suffered terribly while the 3 other members in our home only suffered with asthma. We got out. But I kept getting sick. Then went to a 'Functional Medicine Dr' and discovered my daughter and I had the double MTHFR gene where we dont detox 70% of what goes into our body. We also had a gene that makes us more susceptible to mold and a gene for CFS. Who knew there were different genes for those things. Yup! So now, I started a natural protocol. My pain is next to nothing until I have a flare up. My brain is still recovering. I also have to get IV infusions with nutrients which help tremendously with flare ups like UNBELIEVABLY!!! With the natural protocol for my gut became worse so after doing a stool sample and now being sent to a GI with pancreatic enzymes around 27 when it should be 300 or above I most likely have atleast EPI but most likely Crohns and/or pancreatitis as well. MRI/MRCP tomorrow and biopsy Monday. Even though these are things I dont want in my life, I do want answers. But my GI thinks this is why I respond so well to the IV nutrients because Im not absorbing them in my colon/gut. If you have any other questions Im happy to help but Im still in discovery mode too but I can tell you I have gotten ALOT better and I hope even better once I treat whatever I discover in these upcoming tests. IV nutrients are crucial for us who have EPI for starters. Functional medicince drs usually can help. Goodluck on your journey.

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