By Troyce Venturella, as told to Jodi Helmer
The first time my foot swelled up, it was so big that I couldn’t wear a shoe. I was 7 years old. My dad rushed me to the emergency room because it looked horrifying. The doctor who examined me thought it was a bug bite or a bee sting. He told my parents it was nothing to worry about.
A few months later, my hand was swollen. It looked like a Mickey Mouse glove. The swelling was so bad that I couldn’t bend my fingers and I went back to the emergency room where doctors told me the same thing: It was a bug bite or a bee sting. It was nothing to worry about.
But it kept happening. I always had stomach pains and experienced recurrent vomiting and diarrhea. I couldn’t hold food down. It got worse during my teenage years. There were blood tests and scans but all of the tests came back as normal. Everyone thought it was a mental issue — I was even admitted to a mental hospital on two separate occasions as a teenager.
Eventually, I stopped telling my family that I was sick. It became too exhausting to keep explaining myself. I knew I wasn’t making it up, but I was done trying to convince people.
‘I Had a System’
After high school, I left St. Louis and moved to Pennsylvania for nursing school. I’d always wanted to be a nurse because of everything I went through. I remember thinking, “I’m going to be the best nurse in the world because I’m going to listen.”
It took me a long time to finish nursing school because I was so sick that I was spending more time in the hospital than the classroom. Between flares, I took odd health care jobs, but there were times I couldn’t work at all.
I still didn’t have a diagnosis, but I had a system. When the abdominal swelling got so bad that I was dangerously dehydrated and in severe pain, I went to the hospital for IV fluids and nausea and pain medications. One night in 1984, I went into the emergency room at the hospital where I worked and a young doctor that I jokingly called Doogie Howser said, “I think I know what you have.” I didn’t believe him.
Long-Sought Answer Brings Relief
By that time, I was 22 years old and had seen more doctors than I could count. Still, I let him draw blood.
A week later, he called me and told me that I had hereditary angioedema.
I’d never heard of hereditary angioedema. There was no online search back then, so I went to the library and looked it up in medical textbooks. There was not a lot of information, but what I read terrified me. I should have been dead.
After I was diagnosed and learned HAE was a hereditary disease, both of my parents were tested. Neither one of them had it, which was strange. It turns out that I was the de novo, the starter defect gene.
Even though I had an official diagnosis, there were still no treatments available. My symptoms got worse. I started having dangerous throat swellings and was intubated multiple times. In 1989, doctors told me I needed a tracheostomy because I could open it up to breathe when I had swellings. It was much better than having to be intubated and on a ventilator for several days.
Not Afraid to Live
By that time, I had my nursing degree and the tracheostomy allowed me to work. I had it for 16 years.
I also participated in clinical trials for hereditary angioedema at the National Institutes of Health. In 2009, the first HAE medication was approved in the U.S. The difference was night and day. For the first time, I wasn’t afraid to live. I could travel. I could work anywhere. I could do medical mission trips to places like Haiti and Kenya — places with no running water, no electricity, no hospitals nearby — because I had preventative therapy.
I’m 62 now. I’m a nurse, I have a master’s degree in public health, and I work with the HAE Association where I hear stories that sound painfully familiar from people who are told their symptoms are due to allergies or anxiety or are all in their heads. Getting a diagnosis is a little better now than it was in the 1980s because there is more awareness of the disease, but it’s still not easy. HAE is ultra-rare — there are only about 10,000 people in the United States with the condition — and most doctors will never see a case.
Early Diagnosis Is Key
I tell patients and caregivers: Do not give up. You are not crazy. Find someone who understands. Find an expert. Early diagnosis changes everything, not just physically, but emotionally. For most of my childhood and young adulthood, I felt alone. I hid in my room. I stopped asking for help. I don’t want anyone else to feel that way.
HAE is a chronic condition. With the right diagnosis and treatment, you can live a full life. I’m proof of that.
