Finally, a Diagnosis

My first appointment at the Mayo Clinic in Rochester, Minnesota was scheduled for late July  2016.  By the time a patient has arrived at the Mayo, a schedule of tests has been set up weeks in advance and navigating between those tests is simple.

I met with Dr. Robert McCully, who specializes in pulmonary hypertension. We met for a long time — he was in no rush to push me out and he allowed me to describe me experiences at my own pace.  Most important, he already had received and evaluated my test results. Rarely have I had the privilege of working with a professional of his caliber. But at the end of the consultation, we were no closer to a diagnosis; he felt my problems were not cardiac driven, but noted that I didn’t have a pulmonary appointment, and encouraged me to check to see if the department had any cancellations in case I might sneak in.  With no more information than we had come with, my husband and I, nevertheless, felt greater security in the status of my health. At that point, the plan was to keep my pulmonary appointment in September and return to Dr. McCully at Mayo in December.

The following Monday afternoon [the next business day after our Friday visit], I received a call from Dr. McCully. We talked about the fact that I had not gotten into pulmonary, which was the point of his call.  He asked if he might reach out to the department for me. I was overwhelmed by his kindness but ultimately couldn’t impose on his time and told him I was okay with waiting until September. He wasn’t okay and he gently nudged me until I agreed.  The new plan was for him to talk to pulmonology and then to relay to me any useful information they could share sometime later in the week. That never happened.

By Wednesday morning, I received a second call from Mayo asking if I could return for another battery of tests and two additional consultations on Thursday and Friday of that week. We could, so later that day we returned to Rochester. Not surprisingly, I was tested again for RA and lupus (and both came up negative, of course). Unlike the oxygen titration in the local doctor’s office, this one lasted more than hour and included more than two passes down a hallway. Some of the tests were repeats of what I had had and others, especially the bloodwork, were not.

By the time I met with Dr. Specks and Dr. Chowdhary (pulmonology and rheumatology respectively) on Friday afternoon, they had a diagnosis: Antisynthetase Syndrome. It was Dr. Chowdhary who connected my “mechanic’s hands” in late ’94 to my condition, and over the course of a couple of hours, they explained what was going on in my body: my immune system was attacking an enzyme necessary for proper functioning of my lungs and muscles. They prescribed a long course of prednisone — it would last for about 11 months —  that began with 60mg daily and reduced over time to 1mg daily. I was also prescribed Azathioprine, an immune suppressant, with the hope that the progression of the disease could be shut down.

The end of my story is horribly anti-climactic. Back at home, the local team struggled to accept the Mayo diagnosis and even initially held out on starting the meds (I believe they thought I might still agree to have the biopsy). Contrary to what the thoracic surgeon suggested, Dr. Specks didn’t think the biopsy was a good idea and did not offer to do it for me.

Today I see the Mayo team about once a year to check the status of my disease. Recently, Dr. McCully has added Opsumit to control my pulmonary arterial hypertension. I have divorced myself from the local team, but nevertheless, I feel confident that I have superior care and that my disease is being well managed. I’m on oxygen 24/7, but beyond the frustrations of dragging the oxygen tubing around the house, my life feels mostly normal. Pursed lipped breathing has become my standard mode of operation and I am no longer as embarrassed about being out of breath. My cough has improved enormously and my joints still look normal. The prednisone caused osteopenia and I have lost an inch in height. When I have time to devote to exercise, I find myself physically better able to navigate life. I’m not sure if I will ever have the stamina I once had, anything that needs to be done bent over is a struggle, and stairs in any number are my Mt. Everest, but the confidence I feel in my treatment more than compensates for the years of mediocre care I experienced. The most stressful part was not knowing what was wrong and in not being heard. I’m afraid that is something that many autoimmune patients experience.

It took 22 years to get a correct diagnosis. If you are suffering from an undiagnosed condition, I hope my story can give you the hope you need to keep looking for doctors who will listen to everything the patient has to say and, like Dr. Chowdhary, put that information to together to reach a correct diagnosis.