A mother and daughter with a hereditary angioedema diagnosis
I credit persistence for my decades-long journey to learn I have type 3
What’s happening? Why can’t I fit into these pants? I just wore them last week. The waistband is so tight it’s painful! I ask my family, “Can you see how swollen I am?”
I had no idea what was happening to me, other than my sense that I looked fine in the morning and by afternoon my abdomen was distended and uncomfortable. Sometimes it’d last only a few hours, but sometimes it’d hang on for days.
Having various health issues my entire life, I was used to being sick off and on. As a child it was strep or tonsillitis from October to March every year throughout elementary school. During high school in the ’80s, I had trouble with my gastrointestinal (GI) system. When my parents took me to a renowned hospital and were told my issues were psychosomatic and related to stress, they heard, “It’s all in her head.” Eventually, after my constant pain, doctors found I had inflammatory gastritis.
We’d traveled overseas in 2013, but that was two years before this diagnosis, so it’s doubtful that I acquired some bacteria there that caused these issues. My symptoms became worse, with difficulty eating and vomiting. My doctor said it was my gallbladder, so I had surgery. Afterward, I had lightheadedness and vertigo for a month, which they assumed was caused by an electrolyte imbalance.
Later I was diagnosed with Ehlers-Danlos syndrome, which can come with several health issues. But I was still having inflammation, swelling, and other symptoms that could’ve been from allergies. Another general practitioner told me to try antihistamines and take them year-round if they helped. They did help a bit, but I was still having the swelling.
In 2015, our adopted daughter, Leah, became seriously ill with a nonstop daily migraine, which continues today. Her initial symptoms were soon compounded by chronic fatigue, nausea, gastrointestinal pain, rash, and inflammation to the point where she had difficulty swallowing and breathing.
Then, in 2018, an immunologist said she had type 2 hereditary angioedema (HAE).
And then it was my turn
I immediately dived into learning as much as possible about HAE. Interestingly, many of its symptoms seemed similar to what I’d been experiencing. Therefore, I booked an appointment with the same doctor. In 2019 he told me I had mast cell activation syndrome (MCAS), a diagnosis that Leah had also received.
With MCAS came all sorts of possible triggers, including stress, food, household and personal products, fragrances, seasonal allergies, and environment. I was taking antihistamines, and the doctor added medications, some of which helped a bit while others did nothing. Meanwhile, I was still dealing with swelling. How frustrating!
Through trial and error, I began to learn what foods and even physical activities might trigger me. The most elusive trigger was stress, both physical and mental. I learned there are negative and positive stressors. For example, a birthday party is fun and exciting, but it involves the stress of preparation and the exhaustion from the setup and cleanup. Trying to navigate the unknown stress was the worst!
Because I was having stomach and abdominal pain, they had to rule out GI issues, especially with my history and age. I endured the typical upper and lower GI series, which, along with genetic testing, confirmed a diagnosis of irritable bowel syndrome in 2021.
I finally became so annoyed by the continued, sometimes daily abdominal swelling, even when I was careful to avoid triggers, that I decided to document them with before and after pictures. I shared these photos with my doctor and had blood tests, which came back within normal ranges. Ugh!
The battle dragged out for another year with more symptoms, including genital swelling, which I was told could be from MCAS. Then there were multiple bouts of COVID-19, even though we’d received vaccines, and then a diagnosis of long COVID in 2022.
After a 2023 trip and many hours of travel, one foot swelled, and I documented it with more photographs. My doctor then said we might consider that I had HAE type 3, which can cause periodic swelling attacks.
As with the other types, HAE type 3 produces more symptoms in women than men. Unlike types 1 and 2, though, type 3 HAE has normal blood levels of C1-inhibitor. My diagnosis came after a trial of HAE medication that had an almost instantaneous effect. With my first dose, I felt as if my entire body were deflating. I’m now on a maintenance medication called Orladeyo (berotralstat) that keeps my HAE under control with rare episodes of breakthrough swelling. After a year, I’ve used rescue medications only two or three times.
The moral to my story is persistence. It was important to find a dedicated physician to stick with me to find an answer. I’m also thankful to my family for hanging with me through this arduous journey. Remember that we all know our bodies and the pain and feelings we’re experiencing more than anyone else, including the doctors.
Note: Angioedema News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angioedema News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to angioedema.
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