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From Unexplained Symptoms to EGPA

For US audiences only

About five years ago, I started developing a series of symptoms that seemed random and disconnected, making it very difficult for doctors to give me a diagnosis. Little did I know that I was living with eosinophilic granulomatosis with polyangiitis (EGPA), a rare disease that affects roughly 5,000 people in the U.S. Like many people living with a rare disease, I was about to face a long road full of challenges and setbacks before getting the answers I desperately needed.

The initial onset of my symptoms was gradual and confusing. It all began when I developed severe mouth ulcers and started feeling lethargic. I visited my primary care physician, and later my dentist, to identify the cause, but, without answers, treatment was not helpful, and my condition only got worse. Over a year, the ulcers became so intense that I struggled to eat, which resulted in significant weight loss. As someone who has experienced an eating disorder in the past, my doctors took note and worried I might be having a relapse. Despite reassuring them that I was still in recovery, they suggested I meet with an eating disorder professional. This was my first—although not my last—frustrating setback on the journey toward a diagnosis.  

Eventually, a rheumatologist suggested a biopsy of a mouth ulcer, which came back as an “eosinophilic granuloma” (the EG in EGPA). However, no one knew what this meant, so it was essentially ignored. The medication I eventually started taking helped my ulcer symptoms improve, so I moved on. For the next year, I was feeling like myself again.

Then one day, while I was at work, I had an allergic reaction that caused my airways to narrow. This happened several more times over the next few weeks, along with severe asthma attacks. While I had mild asthma symptoms in the past, I was able to manage treatment through my primary care physician. Other symptoms developed, too, including dizziness, unexpected changes in blood pressure, and neuropathy. This was all very scary, because my symptoms weren’t improving.

To make matters worse, I bounced from hospital to hospital before I was diagnosed with EGPA. During this time, I saw an immunologist who reviewed the labs I brought with me, which showed that I had a high level of eosinophils; he diagnosed me with severe asthma. Yet as he watched the effects of my symptoms over the next months, he changed his diagnosis to Churg-Strauss syndrome, or EGPA. I finally had an answer, although I was scared because I knew nothing about this disease. Yet as I read more, everything started to come together, especially as I looked back on my history of mild symptoms, some of which were so mild that I had never discussed them with a doctor. 

EGPA is a rare condition characterized by asthma, an increase in eosinophils and inflammation of blood vessels. Eosinophils are a type of white blood cell that plays an important role in the immune system by fighting off certain infections. However, having too many eosinophils can cause health troubles, including allergies, certain infections, respiratory issues and more. 

I was transferred to a larger medical center as my symptoms grew worse, meeting with their rheumatology team and eventually connecting with the rheumatologist I have today. The rheumatology team was initially hesitant of such a rare diagnosis coming from a private outpatient practice (that is, my immunologist). Because the treatment for EGPA can be hard on the body, my rheumatologists performed their own medical examinations before confirming my specific diagnosis. My rheumatologist and immunologist were both pivotal in my diagnosis and have become critical members of my care team. They work alongside other specialists that I need to see for other symptoms, such as cardiologists, gastroenterologists and physical therapists. After reviewing my symptoms, my doctor agreed with my immunologist’s original diagnosis: EGPA. This was a relief, because having a confirmed diagnosis meant that, after months of waiting, my doctors could start more directly treating the disease.

Despite initially believing that additional doctors and treatments would be helpful, there were periods on my journey to diagnosis where I lost hope of ever finding an answer. I finally, very intentionally, forced myself to stop hoping that help for such a rare and complicated disease existed, so that the disappointments didn’t hurt so badly. Yet, I felt like I lost part of myself when I stopped believing I could get the treatment I desperately needed, but it was less painful for me to stop hoping at that time.

Not only did this disease affect my physical health, but it impacted my relationships and social life, as well. My friends struggled to understand the severity of what I was going through and why it took so long to reach a diagnosis. I had to stop attending my quilting group for a year (an activity I love) when I was sick. I missed weddings, holidays and important celebrations with friends and family. A lot of people started to drop away as a result, and my world shrunk down to nothing for some time. However, finding a support system has helped immensely with feelings of loneliness, even if it just means someone to come to doctor’s appointments with me. 

My diagnosis showed me how important it is to tell my doctor about all the symptoms I’m experiencing, even if they seem so minor I think they are irrelevant. I now carry a folder with me to appointments to keep track of my medical notes. I also learned that I should always ask any new or specialty doctors to relay results to my primary doctor so that my entire care team is working from the same information. This step is critical when it comes to treating a rare disease. It was helpful for me to go to a larger medical center and have access to all different types of doctors—it truly was a team effort. 

Treating a rare disease isn’t as simple as diagnosis, treatment, get better. Since my diagnosis, my doctors and I have found a treatment plan that works for me. I still routinely see my doctors, but now that my symptoms have gotten better or subsided, my visits are less frequent. Managing my EGPA requires a daily treatment plan that can be time consuming, so the first thing I do each morning is set aside the time I need to take my treatments. 

Even though EGPA is a rare and chronic disease, I feel better now that I finally have answers and a treatment plan that works for me. Accepting EGPA as part of my life has taken some getting used to, but it became easier when I learned how to manage my symptoms. However, managing symptoms is not the same as “well.” There is no bell to ring, because treatment will never be over. There is the constant threat of symptoms worsening, and so much time and money spent to keep my body functioning. 

That being said, I’m extremely grateful to be at this point. A very short year ago I was in a wheelchair with a very uncertain path to doing even basic tasks for myself. In September, I hiked the Malpais lava flows in New Mexico, where an uncharted half-mile hike through the desert took three and a half hours. I played in the dunes of White Sands and biked nearby trails. For now, my disease is less active, and that gives me hope.