Story: "I was sure there was something majorly wrong."

Ed note: Today's story is from Meghan who shares her 10-year journey to diagnosis with Ankylosing Spondylitis.  

I don't remember when the constant pain and exhaustion started, but I remember a day in graduate school where the thought of walking upstairs to my second floor apartment was so daunting that I slept in my car.  It was below freezing and very snowy that day, so this wasn't a decision that I took lightly. 

It was a few years after grad school (2006) when I first saw a rheumatologist.  I had tried complaining to my primary care doctor about general fatigue and pain several times, but had no success.  They were starting to treat me like a hypochondriac and they were constantly offering anti-depressants.  So I started avoiding my primary care doctors.  But things kept getting worse.  My ankles were more than twice their normal size and my hair was falling out in clumps.  I cut it all off because I couldn't stand the gobs of hair in my shower.  Eventually I gave in and went back to my primary care doctor.  She ran some tests, which showed an elevated ANA - indicating that I might have a nonspecific auto-immune disorder.  She sent me to rheumatology.  Of course there was a 2 month wait for a rheumatology appointment.  By the time I got in, my symptoms (which come in waves) were at a lower point.  The rheumatologist ran some additional blood tests, did a physical exam and told me he didn't think anything was wrong.  I went back to primary care to see what the next step was.  Who else should I see?  She said maybe nothing was wrong.  This made me cry in frustration.  She saw me crying and offered anti-depressants.  

It was almost eight years later that I was referred to a rheumatologist again.  This time, I had repeated pregnancy losses (4, along with one live birth) and elevated anti-phospholipid antibodies.  I was still dealing with joint pain and fatigue, but at this point I had almost convinced myself that everyone had "aches and pains."  And all my friends complained of being tired.  Maybe I just had a really low pain threshold (although I occasionally doubted this, as I withstood 54 hours of unmedicated labor).  Although my hands and knees were sometimes sore, the worst pain was in my low back, hips and neck.  The rheumatologist was not helpful.  He did some tests and a physical and said I was fine.  I asked him what I should do.  He said come back if I had "real" symptoms.  

At this point I was sure there was something majorly wrong. I felt AWFUL.  I'd miscarried repeatedly.  I'd had several abnormal auto-immune test results.  I decided to take matters into my own hands.  I ordered a 23andMe genetic test and ran the results through Promethease.  There wasn't any magic answer in the results, but one result stood out to me.  Promethease indicated that I had a drastically increased likelihood of Ankylosing Spondylitis.  While some auto-immune diagnoses had been mentioned as possibilities (mostly Lupus) this was one I hadn't heard mentioned before.  I started to read up on it, and it the symptoms matched my low back and neck pain very closely.  It explained the fatigue and general pain.  It didn't explain everything (like the pregnancy losses), but it was a start.  There was a genetic blood test that was used in diagnosis for A.S.  About 90% of people with A.S. tested positive for HLA-B27.  I thought if I got the test and it was positive, I could bring it to the rheumatologist and he might take me seriously.  I found a website, where if you paid for it out of pocket, a doctor would sign off on any blood work you wanted.  I ordered myself a HLA-B27 test and went to LabCorp to get the blood draw.  It was negative.  I was still convinced I had A.S. (after all 10% of people with A.S. were negative for HLA-B27), but now I had no ammunition to take to the rheumatologist.

I decided to go back to my primary care doctor because everything hurt.  She referred me to an orthopedic specialist.  Of course there was a 3 month wait for an orthopedics consult.  And by the time I had the appointment I was pregnant again.  The orthopedic doctor said my back pain must be pregnancy/hormone related (even though I was only 8 weeks pregnant).  I tried to tell her that I made the appointment with her for the pain before I was pregnant.  The pregnancy couldn't be the cause.  But she didn't listen. She waived off my concerns stating that the previous pain was probably leftover damage/hormones from my previous pregnancy.  I continued to see her and go to a physical therapist while I was pregnant.   The pain continued to get worse, but everyone continued to attribute that to my pregnancy.  By the end of the pregnancy, they had given me a steroid injection in my right SI joint, but I still needed a walker to get from my bed to the bathroom.  I could barely get out of bed.  They induced me early, partly because of the pain (and partly because of rising blood pressure).  

Immediately after I delivered, the pain seemed to get slightly better (of course it had always ebbed and flowed).  By 3 months postpartum it was getting worse again.  My orthopedic doctor decided to do x-rays.  The x-ray showed "mild asymmetric degenerative changes involving the sacroiliac joints" and  "amorphous calcification adjacent to the right greater trochanter."  My primary care doctor said you shouldn't see these results in someone my age, but the orthopedic specialist didn't think anything was abnormal enough for comment and just ordered more physical therapy.  At this point I had been through 6 courses of physical therapy with 3 different physical therapists.  It was always the same exercises and I never saw improvement.  

About a month later, things got significantly worse.  I needed the walker again.  The pain peaked on a weekend, so I went to urgent care.  They gave me a shot of pain killer and some muscle relaxants and sent me home with instructions to call the orthopedics doctor on Monday.  She ordered and MRI.  Before the results were back, the pain got even worse.  This time I went to the ER.  I took me 2 hours to get from my bed to the car.  I was trying not to sob because sobbing hurt, but the pain was awful.  The ER doctors treated me like a drug seeker, but gave me morphine and sent me home with pain pills to last 16 hours.  I asked what I was supposed to do in 16 hours.  They said if the pain was still bad to come back.  My parents moved in to help temporarily because I couldn't lift my baby.      

Then the MRI results came back.  They showed sacroilitis and significant edema and erosion in my SI joints and spine.  The orthopedic doctor wanted me to see a rheumatologist.  She suggested one that was great, but had a long wait for new patients.  She also suggested that if I couldn't get in to see the good doctor immediately, I should go back to my other rheumatologist because things were "urgent."  It would be 3 months before I could get an appointment with a "good" rheumatolgist, so I went back to the one who had repeatedly told me nothing was wrong.  This time I was armed with evidence.  He was "shocked" but I definitely had Ankylosing Spondylitis.  He used words like "severe" and "aggressive."  He was surprised that there was so much damage is such a short time.  He couldn't admit that the damage had been going on for 10 years and he had missed it - so my disease must be so aggressive.  It must have all happened in the year since I saw him last.   He suggested skipping treatments recommended for mild A.S. and wanted to go straight to the biologics (which can have scary side effects like cancer).     

Despite wanting a diagnosis - I'm still coming to terms with having an incurable, degenerative disease.  I hate knowing that my body slowly attacking my spine and that it will continue to get worse.  I suspected A.S. for a long time so I am surprised how hard it has been to come to terms with.  I started Enbrel (one of the biologics) 4 weeks ago.  I think it is helping.  The Enbrel can prevent (or at least reduce) inflammation and therefore lower my pain levels.  But it can't reverse the joint damage caused by previous inflammation - so I will always have pain.  I haven't needed the walker in several weeks.  Some days I still need my cane.  Some days I can't lift my baby.  I can almost never lift my toddler.  I wonder what things would be like if any of the doctors along the way had found the A.S.  After all, I'm not a doctor and I was sure it was A.S.  I wonder how much damage would have been prevented.  I wonder if I would wake up without pain.  I wonder if I would be able to chase my daughter when she suddenly takes off running and looks over her shoulder yelling "catch me!"  It was almost exactly 10 years between my first rheumatologist visit and my "official" diagnosis.  Next month I will go see the "good" rheumatologist.