22-year diagnostic journey
Nine doctors and a colonoscopy
In fall 1994, the skin on my fingers began to crack and bleed. I tried cream, petroleum jelly, and bandages, but nothing provided relief (I learned it’s called “mechanic’s hands”). In spring of 1995, the cracking cleared up, but the joints in my hands began to swell and my knuckles became huge and painful. The pain was constant, but I was still able to do most things, though I lost dexterity. By summer, the pain had spread to my wrists, ankles, and knees it became difficult to kneel.
I was changing jobs, so I scheduled a checkup, and mentioned the joint pain to my doctor. He said “I hope it isn’t rheumatoid arthritis.” He prescribed naproxen and told me if it helped, I probably didn’t have rheumatoid arthritis (RA).
The naproxen helped enormously. The first day I was able to kneel easily, but the relief only lasted as long as the prescription and by fall 1995, I found it difficult to walk up and down stairs because my knees were so swollen. In spring 1996, I saw a rheumatologist for the first time. He tested me for RA and lupus and ordered x-rays of my hands and knees. The tests came back negative, but he said that 25% of people with these disease test negative and, in his opinion, I had RA. He remarked how little damage my joints showed despite the grotesque appearance of my knuckles. He prescribed a sulfa drug for the RA.
In 2000, I had the flu and went to an urgent care center because I couldn’t shake the cough. The doctor diagnosed me with pneumonia and prescribed antibiotics, but the coughing continued and my hands were still swollen. I saw another doctor, who sent me for chest x-rays, determined I had pneumonia (again), and put me on another round of antibiotics. The doctor also noted the appearance of my knuckles and my fingertips, which he described as “clubbed”. He sent me to a rheumatologist, who ordered tests for RA and lupus — both still negative! But his opinion, too, was that I had RA. He ordered a pulmonary function test, which found a moderate obstructive problem. Since I was still coughing I asked him for a refill of the antibiotic. During this course of antibiotics, which lasted about 4 weeks, my knuckles began to improve. On my return visit to the doctor, I mentioned this. He told me I was “wrong” and prescribed blood pressure meds for “white coat syndrome”, did not give me any diagnosis for the cough, and implied that the obstructive disease was the result of my weight.
By 2004, I was increasingly short of breath and one day, after an especially brisk walk, I thought I was having a heart attack: short of breath with my heart pounding so hard it hurt. I saw a new doctor and he discovered I was severely anemic. I was in my 40s, overweight, and I had read that the anemia was often a sign of uterine fibroids. He told me that all women thought their periods were heavy. He tested my thyroid and ordered a colonoscopy and endoscopy, neither of which found a problem. I continued to ask him about uterine fibroids, and finally he sent me for an ultrasound: the fibroid was enormous.
By this time, my joints had returned to normal but I was still short of breath and coughing. I assumed those symptoms were just from being middle aged, pre-menopausal, overweight, sedentary, and stressed out by work. But I also developed Raynaud’s Syndrome (also called Raynaud’s phenomenon) and always felt cold.
Years passed and I tried yet another doctor. I had grown frustrated by my inability to lose weight and by my fatigue, and I wanted thyroid tests again. But, except for a high red blood count, all my tests were normal. This doctor told me we would pursue the blood issue in the future and recommended I lose weight.
A common cold to heart failure
In early March 2016, I caught another bad cold and I could hardly breathe whenever I walked. A few weeks later, my cold worsened; any attempt to lie down resulted in an endless fit of violent coughing. After four sleepless nights, I decided it was time to go to a Minute Clinic.
The staff there checked my blood oxygen level, which was substantially below normal, and they suggested that I go to an Urgent Care Clinic. The medical personnel there also checked my oxygen level and immediately offered to call an ambulance -- I opted to drive to the hospital myself.
At the local hospital, I found that the reason for my cough was “right-sided heart failure.” The general practitioner who treated me explained that my lungs were ¾ filled with fluids, which caused strain on my heart. I was prescribed Furosemide and Carvedilol, medications frequently prescribed for heart failure. Over the course of the next three days, the doctors tried to understand what caused the heart failure. After undergoing a variety of tests, including another RA and lupus test that came up negative, they determined I had pulmonary artery hypertension (PAH).
After the hospitalization, I went to a cardiologist who specialized in PAH, and he performed both left and right heart catheterizations. The latter established my pulmonary artery pressure at about 78 mmHg, which was significantly higher than normal. He also insisted on two sleep studies, each based on only one hour of sleep! In the end, the cardiologist diagnosed me with sleep apnea and idiopathic pulmonary fibrosis.
At the same time, I saw a pulmonologist. He ordered a variety of tests, including a CAT scan to determine the flow of blood and air in my lungs. When I went to get my scan done, the technician grew visibly distressed as the images developed; she instructed me to call my doctor once I got home to see if I should be hospitalized. The pulmonologist later determined I had interstitial lung disease and possibly pneumonitis (inflamed lungs). The pulmonologist’s colleague, a rheumatologist, ordered even more tests (including my fourth RA and lupus test) and said he thought I had sarcoidosis.
At this stage in my journey, I had half a dozen diagnoses with no clear answer as to which one was correct. To get a definitive answer as to what was wrong with me, the pulmonologist and rheumatologist suggested that I undergo a needle biopsy. But a few weeks later, they changed their minds and decided I should rather get an open lung biopsy; they assured me that they had a treatment plan, which would not be affected by the biopsy findings. Initially my cardiologist balked at the biopsy, but later agreed when he was assured that I would be hospitalized in the ICU for a week.
When I met with the thoracic surgeon who would be performing my biopsy, he contradicted everything my other doctors had told me. I had already set up an appointment at the Mayo Clinic in Rochester, so I decided to forego the biopsy.
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.
