25 Years to Diagnosis: How I was diagnosed with Behcetās Disease, a rare, orphan disease
Itās about time I get something out in the open: after 25 years of living with autoimmune arthritis, I was finally correctly diagnosed with Behcetās Disease, a rare form of vascular autoimmune arthritis. Now, you can either go look it up and be horrified, or keep reading and hear it from the horseās mouth.
December 2016 will reign in infamy as the time my gut, that is the metaphorical gut that I listen to, could finally punch out for a much needed metaphorical smoke break. After 25 years, I finally found the diagnosis that explained every last oddity I had been mentally tabulating and attempting to connect. Then I napped. A lot.
Warning: if you find any of my following language offensive, or details TMI, too bad. I was pretty offended when my lady parts decided to start randomly developing ulcers. Thatās right, ulcers.
November 6th I began feeling seriously - off. If you live with an autoimmune disease, you know what Iām talking about. My brain ran through known quantities, attempting to connect identified dots, create logical explanations that would lead to taking the best next steps. I decided on a scapegoat, and course of action with my PRN meds on hand.
November 8th I woke in the wee hours knowing this off feeling had moved beyond known quantities and I did something I rarely do, woke my husband early and asked him to stay home with me. It was also election day, and it was apparent Iād need great help getting to my polling location.
At 5am I was scanning my insurance website for the urgent care closest to me that seemed to also have their shit together. I arrived as soon as they opened at 8am, only to find a staff completely devoid of concern when I rattled off a laundry list of immunosuppressant medications - they didnāt even ask if I had pre-existing conditions. From the fetal position on the exam table, I explained to Dr. Judgmental that I have multiple severe autoimmune diseases and knew something was āoff.ā Her response, āI wonāt give you pain medication, because everyone your age who uses them becomes addicted to heroine.ā Hmmā¦ ok, thatās not why Iām here. I politely explained I wouldnāt be needing a new Rx ābecause I have plenty of opioids at home.ā Two can play this game.
After going over the immediate symptoms that brought me in, she asked if I had had new sexual partners and when my last STD screenings were. To which I explained my rock solid monogamous relationship of 8 years to her. Her response, āWoman to woman, men cheat and I would recommend full STD testing.ā Two things: why is my husband automatically the liar in this situation? And person to person, donāt project your own relationship issues onto me.
I relented, because educated as I am, I still fear Los Angeles toilet seats and the urban legends they may house.
Thoroughly humiliated, I went home to begin weathering one of the worst weeks of my life.
Since I was a baby, Iāve gotten mouth ulcers. The first one when I was a toddler was so particularly bad that eating made me cry. My parents took me to an army medical clinic where they were laughed at. I have many recollections of these ulcers taking over my mouth through my life, and it wasnāt until I began anti-TNF treatment in my 20s that they began to subside [clue]. To be clear, a lot of autoimmune patients get mouth ulcers, but Behcetās ones are slightly different - more severe.
Iāve been seeing the same rheumatologist for the last 6 years, and all the while Iāve continued to float various diagnosis to him. My gut has always said that we didnāt have it fully figured out with RA, spondylitis, and Sjogrenās (all of which I am still technically diagnosed with). My rheumatologist has entertained my repeated mentioning of EDS, especially given my family history, but said it wasnāt quite me.
Multiple episodes of severe bleeding through the years have been enough to make me terrified of getting in a severe car wreck, or dreading the day that I might need another surgery. Thorough hematology workups have revealed āsomethingā is off, but they could never determine what. Surgeries of mine have been labeled as āseverely vascularā and when a cast on my foot was taken off, nearly every surface blood vessel ruptured [clue].
Through the years Iāve learned words like āpetechiae,ā often used in the same sentence as āyour body is shutting down.ā Iāve read up on various rare diseases, letting the idea of them simmer on the back burner.
In 2008 I had arthroscopic knee surgery that became less than routine, as did my ensuing relationship with my world-class surgeon. One morning at 7am he called my cell phone to tell me to turn the TV on. It was the summer Olympics, and Sanya Richards-Ross was going for gold. She was also battling severe fatigue and ulcers, a diagnosis of Behcetās Disease, and my surgeon wondered if this might be my answer too. I became obsessed watching this phenom win gold after gold! She has since been a source of inspiration and strength to me. But when I looked up āclassic Behcetās disease symptomsā I was oddly relieved to tell my doctor, well, Iāve never had vaginal ulcers so it canāt be that. NEXT.
Until I did get them. Let me tell you people, donāt fuck with a woman whoās body randomly produces vaginal ulcers. I nowā¦ how do you say? Give no fucks? When your body does something like this to you, even after living with chronic disease for 25 years, you suddenly have an entirely different perspective on life.
Revealing this diagnosis took an hour long conversation with my rheumatologist, combing through my medical history to look for clues that led to the ultimate aha and him saying, āthank you for being such a great historian.ā Iāve had to be.
So, here I am now - putting all this out in the open. Thatās something I was very nervous to do as someone who is so publicly open about her health. I didnāt want people thinking about me in THAT WAY. But several people reminded me that itās not unlike Crohnās patient advocates and their ability to keep it real on typically TMI topics.
I now feel comfortable in my *new* disease, having connected with several other Behcetās patients on the DL (down low). For the first time in my life, I feel utter strength in fighting for MY DISEASE. For fighting for a better future for all of us living with this vascular form of autoimmune arthritis. We have no specific treatments, we are an orphan disease in the US, which lets our insurance companies play hard-ball on approvals for existing medications.
So to that I say, letās fix that. Letās understand this damn thing! So I am making a very sincere plea - help me raise the money for a dedicated Behcetās grant through the Arthritis National Research Foundation. Once the money is raised, the foundation will do their due diligence in finding the right researcher(s) to bestow the funds on.
We only need $100,000 to make this happen - something I know can be done. Like I said (more politely this time)ā¦ donāt mess with a woman with Behcetās Disease!
Thank you to Rare Disease Day 2017 for giving me the strength to be open about this. I am proud of my blue genes [jeans] and to band together with the other rare advocates.
When all of this began in November, the last thing I expected was for this horrid time to turn into a gift of freedom. But thatās exactly what it is - a weight off my shoulders, sound sleep at night. I finally have my answer, and if you feel you donāt have yours - listen to your gut. Keep fighting.