Monday, February 29, 2016

A Rare Cause – My Story

             Today is Rare Disease Day, and in conjunction with it, this is my story about having one of those uncommon medical conditions.
            I have PBC.  That stands for Primary Biliary Cholangitis.  I only found out in 2015 that I have it, but it could have been there, quietly doing its not so nice thing, for some time before that.  PBC is an autoimmune disease.  That means the body is building antibodies toward itself, that the immune system for reasons unknown has gone a little haywire and is attacking me and not just that which attacks me such as germs and viruses.  While there is evidence of it running in families, not everyone gets it and they don't know what triggers it in some people and not in others.
While some autoimmune diseases are general in their attack of the body, like systemic lupus erythematosus (SLE), others take a liking to a particular type of tissue.  With PBC, it’s attacking the bile ducts of the liver.  Doesn’t sound too bad, does it?  Thing is, the liver does a lot of things and uses those bile ducts for all manner of transport of both the good and the bad of the body.  When the bile ducts come under attack, they become damaged and can’t handle the flow of anything through them as well as they did before.  Eventually, the damage closes them off and whatever the liver used to send out through them either has to find another duct or things that shouldn't be staying start to damage the other liver tissues.  The damage can be so bad and scarring can become so extensive that the liver simply can’t function and it either has to be replaced or …
Well, that’s just to give you an idea of what’s involved with this disease.  This is my story with PBC, after all, and my story with it starts kind of boringly.  I was due for the less than wonderful procedure of colonoscopy.  I've had the procedure before and trust me, the prep is the worst part.  Anyway, I found a new GI doctor because my old GI doctor didn’t take my health insurance.  The new GI doctor was looking over my most recent blood test results and noticed that one test was ever so slightly out of normal range.  Most doctors would look at the value and not really think twice about it.  I am overweight and this particular test, alkaline phosphatase, can be a little elevated in the, shall we say, full-figured population.  But, the elevated results could also indicate more serious things going on and my new GI doctor, just to be on the safe side, ordered a few more tests.  We were both pretty sure that everything was going to come back normal.  We were wrong.
Of the tests that he ordered, the two which were indicators of an autoimmune disease, anti-nuclear antibody (ANA) and anti-mitochondrial antibody (AMA) came back positive.  Mind you, this doesn’t mean you have something, it only means that you have a positive blood test for it, especially when you have no symptoms to make the medical alarm bells and whistles go off and I was one of those symptom-free people. 
Now, you can wait and see if anything develops, or you can have imaging done (ultrasound, MRI, CT scan) which may or may not show anything if it’s early in the game, or you can get right to it and have a liver biopsy.  While I wasn’t keen on being blissfully sedated while they stuck a large needle into my liver after a CT scan told them where to properly poke, I’ve always been one who wants to know what’s going on and so I chose Option #3.
Cut to about a month and a half later when, following insurance approval, additional testing and finally the biopsy itself, I learned I had this thing called PBC.  About the only thing I liked about it was that it was rare.  I like to think I’m unique and having a condition that occurs in less than 1% of the world’s population really kind fit into my self-perception of being somehow special.  It’s also something of a female thing without being related to female parts, as the ratio of women to men with this condition is about 9 to 1.  Well, go, Girl Power.  However, I could enjoyed being a girl without this rarity.
The more I read initially about PBC, the more it frightened me.  My liver would slowly get chowed on by this disease and I had all the less than happy things that go with liver damage to look forward to.  Being in allied health fields for many years, I pretty much knew what that meant, too.  There is no cure for PBC and no treatment guaranteed to help with the problems.  I might even become a candidate for liver transplant somewhere down the line.  I might have a normal lifespan or I might have considerably less, depending on how quickly things progressed.  Etc., etc., etc.  Scary stuff.
As time has gone by, though, I’ve come to terms with this PBC beastie.  I am presently at Stage 1 of the disease (there are 4) and except for feeling bone-tired a little too often for my liking, I’m still pretty much symptom-free.  Fatigue is actually the most common complaint of PBC, so I’m in good company.  Specialists with a good working knowledge of my condition are few and far between; closest location for me is New York City, 100 miles away.  My GI doctor said he’d see me in a year, and I think my primary care doctor would prefer that I make treks to a hepatologist (liver disease doctor) rather than rely on him for answers and care for this problem.  My PCP is probably right, as most doctor’s knowledge of primary biliary cholangitis isn’t much more than knowing what it is.  But I’m a creature of habit and comfort and until I have more problems, I’m staying local.  I’m not presently on any medication for PBC, which works out well since I’m barely good with taking vitamins.  I eat a balanced diet and I exercise regularly, and those wellness steps are the best defense with any medical condition.
I also found great resources and great support in the land of the internet.  Through my own medical intelligence gathering efforts, as well as the resources of such wonderful organizations as PBCers.org, I keep abreast of what’s available and what could become available, including medicines to not just alleviate symptoms, but actually slow the progress of the disease. 
Perhaps at some point, they will be able to stop PBC and other autoimmune diseases in their tracks.  I would love for that to be in my lifetime, even if it happens on my last day on the planet.  Until then, life goes on and I will try to enjoy it to the fullest.  I could have 20 years or 20 days.  PBC could be culprit of my demise or I could get run over by a bus.  There’s no way of knowing for certain what lies ahead and that's perfectly normal and perfectly fine by me.

For more information about this and other rare diseases, please start your journey at 
http://www.rarediseaseday.org.

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