Autoimmune disease are very poorly understood. Most information seems to indicate that they are the result of a very complex interaction between genetics and environment. Perhaps some are predisposed to them based on genetics and they’re “kick started” by an environmental factor – perhaps a virus or cold that gets the immune system going but then it goes haywire from there.
In October 2013 a study was released indicating six genes have been found to be associated with Sjogrens (http://www.sciencedaily.com/releases/2013/10/131006142446.htm). This is a huge step forward in the ability to someday understand this disease.
I have zero doubt that I have the genes they found. And the reason why is because I’m convinced of that is because my maternal grandmother had Sjogrens, although she was never diagnosed.
My mamaw died in late 2010. She can’t be diagnosed now, but I’m certain this is what plagued her for many years. She was the same as me.
First, she always had a “through the roof sed rate” (as my current rheumatologist phrased it last week). Sed rate is a very non-specific way of telling that there is inflammation in the body. My mom says they always told mamaw that it’s was high but could never find a reason for it.
Second, she had chronic dry eyes and mouth – she complained of it often. Although, as I’ve learned all too well, those are by far not the only symptoms of Sjögren’s, they are a hallmark. That, combined with the high sed rate and other symptoms leave me little doubt that she suffered from this, too.
Third, fatigue and joint pain. Mom says she complained of these things for many years.
Fourth, we’re genetically related. I actually look quite a lot like her (I’d been told that often when I was little but had a hard time comparing my little girl face to her grandma face. But when I was older and saw pictures of her from when she was younger, I began to see it). And if I got genes from her that are visible, there’s no reason to think that we both suffer from the same symptoms and that those aren’t genetically linked as well. Because our environmental factors could not have been more different – there’s no way that’s the link between us.
I’m so very sorry that she suffered while doctors wrote off her symptoms or just ignored them. I’m very sorry that she never learned the name of what was wrong with her and to feel that little but of satisfaction that comes with knowing it’s not “all in your head.”
But I know she loved me dearly and I know that she’s somewhere, very happy right now that I’m making progress with it and working towards finding treatments that work for me.
And I also know, without even the slightest doubt, that wherever she is, she’s saying in her southern drawl “I TOLD them something wasn’t right!” now that she’s seeing that it is a “real” thing that’s not “in her head!” (Mamaw had a widely known way of letting people know when she was right all along, and it always began with “I TOLD them…” And anyone that knew her can hear exactly how she said that phrase in their head right now!)
So in honor of Mamaw, each time throughout this long and winding autoimmune disease process that I’m right about something and have to push doctors to get there, I’ll be saying “I TOLD them” in my head!
Side note: I wrote the first half of this post while I was waiting in the beurologist’s office for my EMG/NCS study for my neuropathy. When it was my time to go in, a nurse came out from a door behind me (so I couldn’t see her) and called my name “Kelly” in a southern drawl that I swear was like hearing Mamaw call my name (she always said it in a way that wasn’t like how most people said it…kind-of a strange mix between “Kelly” and “Ke-eally”).
I was in the middle of writing about her and seemingly from nowhere (because I never saw the nurse), in Kansas, someone called my name just like my South Carolinian Mamaw.
She continued to have that similar accent as she completed half of my procedures.
I’m an emotional wreck lately and that moment of hearing my name like that didn’t do much to help me hold back the tears during a painful procedure (more on the EMG/NCS later).
I’m pretty sure Mamaw sent that nurse for me today.