Finally! A diagnosis! Then you realize that getting the diagnosis is only the beginning. The first step. Pace yourself. This is a marathon, not a sprint.
Below is a summary of the events leading to my diagnosis with EGPA/Churg-Strauss Syndrome, a rare form of vasculitis, in 2014. Looking back, I can see worsening symptoms developing for about a year prior to my diagnosis. Getting a definitive diagnosis can be a long and difficult road for many vasculitis patients. I know how lucky I am to have gotten a diagnosis, and in a relatively short period of time.
Before EGPA/Churg-Strauss Syndrome. Life was good before EGPA/Churg-Strauss. I was active, worked long hours, and was always on the go. I never got sick, never missed a day of work. I was able to do anything and everything I wanted to do. Then a series of strange things started to happen…
Adult-onset asthma. As a kid I was pretty healthy. I had the occasional stomach bug or respiratory infection, and some seasonal allergies, but nothing serious and no major illnesses or hospitalizations. In my thirties, I developed asthma and a persistent annoying cough, and my allergies evolved into year round stuffiness and congestion. My asthma doctor gave me every form of inhaler, nasal spray, antihistamine, and decongestant on the market but none of them seemed to help much. I just dealt with it.
Laryngitis and vocal cord damage. One day, I got an upper respiratory infection and an acute case of laryngitis. I remember exactly when this happened because I was at a research conference in New York and had to give a presentation in a near whisper from the podium. I made it through the talk, but my voice did not recover completely afterwards. I struggled with my voice while teaching during the next semester, then I sought out an ENT who was a vocal cord specialist over the summer of 2013 to see what was going on. He visualized my vocal cords using a camera (by laryngoscopy – not fun!) and he told me he could see exactly what the problem was – my right vocal cord was partially paralyzed! He said this was due to a problem with my vagus nerve which controls the vocal cord nerves. My right vocal cord was too weak and would not line up with the left which created a big gap between the two cords that was making it difficult for me to speak. I had MRIs of my brain and neck to rule out any signs of compression of the nerves controlling my right vocal cord such as a tumor or other anatomical problem, but he could not identify what was the underlying reason for the paresis. The MRI did, however, show signs of chronic rhinosinusitis, which I shrugged off. He performed surgery (medialization thyroplasty) to insert an implant in my right vocal cord in order to reposition the cord to improve my voice. The surgery definitely improved my voice, but I continue to have problems, especially in low humidity and in the wintertime, sometimes when I’m having a flare, and when I need to project my voice in noisy environments or large classrooms.
Lung problems and skin rashes. A few months after my vocal cord surgery, in the fall of 2013, I started to develop lung congestion. I kept thinking it could be a respiratory infection, or seasonal allergies, but the congestion persisted and increased to the point where I was coughing up quite a lot of sputum all day long. At the same time, strange rashes appeared on my lower legs, which I now know were purpura. My asthma doctor gave me a course of antibiotics but the congestion did not improve. When she gave me a short course of prednisone (my first time ever taking prednisone), I felt relief within hours and the lung congestion cleared up immediately. The congestion quickly began to return a few weeks after I finished the course of prednisone.
Bronchiectasis. After taking a second antibiotic which did nothing for the congestion, my asthma doctor ordered a chest CT. The chest CT showed I had bronchiectasis, an unusual lung condition, which is a form of COPD. When I read about bronchiectasis I found that it is caused by chronic inflammation and can result in permanent damage to the airways and loss of lung capacity. Since I am in a big city with several university hospitals, I was able to find experts in bronchiectasis nearby. Coincidentally, the pulmonologist who specialized in bronchiectasis was at the same university as my ENT/vocal cord specialist.
Time to get serious. At this point, in March of 2014, a lightbulb went off in my head. I had spent the last four months with persistent lung congestion and shortness of breath, as well as just feeling plain lousy all the time. Antibiotics did not help but the prednisone worked wonders, even though the congestion kept coming back as soon as I stopped the prednisone. I knew there was something really wrong with me and I needed to get to the bottom of it. I would spend the next six months learning everything I could about my symptoms and going back and forth between different specialists for lots of tests.
Eosinophilia. The lung doctor ran a whole bunch of pulmonary function tests, sputum cultures, imaging, and bloodwork, including screening for cystic fibrosis. Other than some mildly reduced lung function, everything came back normal except for one thing – my blood count showed very high levels of eosinophils. Eosinophils (the “E” in EGPA) are a type of white blood cell which are important for controlling allergies and parasitic infections. This turned out to be a very important clue since eosinophilia is unusual and there are a limited number of conditions that can cause high eosinophils. The lung doctor continued with additional tests and referred me to an immunologist to help track down the cause of the eosinophilia.
Peripheral neuropathy. A few months later, in August of 2013, I began experiencing pains in my right wrist and hand, as well as numbness and tingling in my hands and fingers. I started dropping things and knocking things over, which was very unusual for me. Based on all of the other symptoms I was having, the possibility of EGPA/Churg-Strauss seemed to be likely. I went to see a neurologist for evaluation. Motor function and EMG tests were normal. But I was truly shocked to realize that I had lost sensitivity to cold and to fine pinpricks in my hands and feet. I had also been having some balance issues but had not put two and two together until the neurologist asked me about my balance. The neurologist diagnosed me with peripheral neuropathy in my hands and feet and considered EGPA/Churg-Strauss to be the possible underlying cause of the neuropathy, so he referred me to Rheumatology.
Diagnosis! Most vasculitis experts are rheumatologists, and fortunately for me, one of the world experts in vasculitis and EGPA/Churg-Strauss is located in Philadelphia – and at the same university as my other doctors. I met with him and we reviewed all of the details of my medical history and the test results from the pulmonologist, ENT, and neurologist. At this point, I had the following conditions supporting a diagnosis of EGPA/Churg-Strauss: chronic rhinosinusitis; adult-onset asthma; pulmonary congestion and bronchiectasis; eosinophilia; mononeuritis (vocal cord paresis); and peripheral neuropathy. In addition to these symptoms, I had been suffering from hip joint pain, fatigue, and other constitutional symptoms. Other relevant bloodwork for inflammatory markers or antibodies showed a normal ESR, normal CRP, and a negative ANCA titer. I had a prior history of purpura, but this had not been documented by a clinician or biopsied. My rheumatologist diagnosed me with EGPA/Churg-Strauss in October of 2014, about six months after I had the CT scan showing bronchiectasis. I underwent additional testing by an immunologist to confirm the diagnosis as well as to screen for parasitic and viral infections and to receive vaccinations prior to starting immunosuppressive treatment. I was also referred to a hematologist/oncologist to rule out malignancy as a possible cause of the eosinophilia.
Biopsy confirmation. During the next six months or so, I would have several flares which would result in purpura on my lower legs. A punch biopsy of one of these lesions would confirm vasculitis (the pathology report concluded “leukocytooclastic vasculitis”). I also had several skin nodules and an excision of one such nodule confirmed it was a granuloma (the pathology report concluded “granulomatous inflammation”).
Next step – treatment. Now that I had a diagnosis in hand, we could move on to the treatment. I was so focused on getting a diagnosis that I had not spent much time thinking about the treatment plan on the horizon. It’s probably a good thing that I didn’t think too much about it. I knew it was going to be pretty intense, but I was really looking forward to getting started because I thought maybe I would start to get better after feeling so lousy for so long. I had no way of knowing (nor did my rheumatologist) that it would take me several years and many setbacks in order to find a combination of immunosuppressive drugs that would keep my immune system under control.
Important factors leading to my diagnosis. My path to a diagnosis was relatively straightforward leading through several specialists until I arrived at the rheumatologist. I think a big part of this was the active role I took in focusing on getting to the bottom of my health issues, and my persistence in scheduling all of the doctor’s visits, blood work, and other tests. I made this my number one priority. I literally spent six months reading everything I could about my different symptoms late in the evenings and on weekends. I built a list of possible causes (differential diagnosis) and researched specialists as I tried to fit all of the puzzle pieces together. After realizing that prednisone could alter the inflammatory markers and eosinophil levels in my blood tests, I made the decision that I would not take any treatment to alleviate my symptoms, so I could avoid anything interfering with the lab results as I went from specialist to specialist while working on getting a diagnosis.
What is my advice to other patients who are seeking a diagnosis? The most important thing is to trust yourself and do not let anyone bring doubt into your mind. I knew there was something seriously wrong with my health and I was determined to figure out what was going on. I learned everything I could about my symptoms and studied my lab results. I kept careful notes about the symptoms so I could explain this to the clinicians and answer all of their questions accurately. I did my homework on the clinicians too, and made lists of doctors who had the best expertise in my symptoms. I was prepared to get second and third opinions if I did not agree with an assessment, or if I felt that a clinician was not listening to me or taking my concerns seriously. Through these steps, I have been able to build a team of specialists, led by my rheumatologist, who are working together with me to help me manage my vasculitis.
For more about my disease course. For a summary of the first 3 1/2 years of my treatment course, see here.