By Tracy Winn, as told to Kara Meyer Robinson
I was a wheezy sort of kid who got tired easily and seemed to catch every passing virus. It ran in my family. I remember one day my pediatrician sat me on his table and said, “Oh, you poor thing. You have asthma.”
Asthma might have been part of it, but no one really knew what “it” was.
In college, I took good care of myself and still caught every respiratory germ. I had shots for environmental allergies and took medication every day. In my 20s, as an elementary school teacher, I kept getting pneumonia and had to cut back my hours. My primary symptom was and still is shortness of breath.
Connecting the Dots
About 15 years ago, when I was 54, I had a CT scan for diverticulitis. To my doctor’s surprise, it showed emphysema in the lower part of my lungs. Since I’d never been a smoker, she had me tested for alpha-1-antitrypsin (AAT) deficiency, a genetic form of chronic obstructive pulmonary disease (COPD).
I was grateful I had a doctor who knew to test for such a rare disease. But beyond testing, she didn’t know much about it. She had another patient who was 10 years older, had no symptoms, and was doing fine. The doctor said I shouldn’t worry about it, but if I wanted to see a pulmonologist, she’d give me a referral.
Since it wasn’t anything to worry about, I didn’t get around to seeing a pulmonologist for about a year. He didn’t know much about AAT deficiency, either, but sent me to the internet to read about it. He also gave me a blood test that showed that I’m a piZZ – I have a type of severe AAT deficiency associated with early-onset emphysema.
Months later, he called to say he’d been talking to colleagues and recommended that I start augmentation therapy.
At the time, augmentation therapy meant going to the hospital for IVs every month for several hours, or every week for less time. I couldn’t imagine spending my time that way. Being outdoors hiking, birding, and canoeing is what I live for. But climbing hills was getting harder, and the more I read about alpha-1, the more necessary IV therapy seemed to be.
Starting Treatment
In 2014, my pulmonologist connected me with AlphaNet, a nonprofit resource that guides and educates people with AAT deficiency. They set me up with a visiting nurse for weekly IVs of an alpha-1 proteinase inhibitor, a medication used for augmentation therapy to treat alpha-1 and emphysema.
Ever since then, a coordinator from AlphaNet has checked in with me every month to share information, see how I’m doing, and make me laugh.
I wish more providers knew about AAT deficiency. Like many people, had I known earlier what I was dealing with, I would’ve started augmentation therapy much earlier in my life, and my chance for a long life would be better.
Managing AAT Deficiency
I’ve learned to be strict with myself about exercise and avoiding triggers. So far, I’ve been lucky and I haven’t been hospitalized at all.
I avoid situations that put me at risk of allergies or viruses that could bring on a flare-up or infection. Much as I love a bonfire, I’ve learned to avoid smoke. I avoid allergens. I can’t visit friends with pets I’m allergic to. The upside to avoiding dust and mold is that someone else has to do the housecleaning.
I feel better when I exercise. For the last 15 years, I’ve walked an average of 2.5 miles, six days a week. I do Pilates two to three times a week.
I can still climb the hills of Vermont at my own pace, but I can’t hike the mountains anymore or play soccer with the kids. For a while I couldn’t ride my bike, so I bought an electric bike. Now the hills just melt away.
I’ve been more isolated than most during the pandemic. At times it can be draining, discouraging, and lonely. But there’s always a bright side. Since I’ve been cooking so many meals at home, I’ve been playing with new recipes and we’ve been eating well.
My new pulmonologist makes sure I have liver ultrasounds and lung scans annually. He always says, “Whatever you’re doing, keep doing it.”
Managing the Ups and Downs
I’m aware as each year rolls by that I’m losing lung power and my heart has to work harder. My pulmonary function tests say I’m losing about 5% of my lung function every year.
When it’s summer, I sleep in a cabin that’s up a steep hill from our kitchen. I struggle a little more with the climb each year. If I pace myself and take time to catch my breath along the way, I arrive winded, but I also feel accomplished.
After about a year of seeing a visiting nurse for IVs, I learned how to set up the equipment, find a vein, and infuse myself. This has given me more freedom and autonomy.
There are times when I struggle for breath or feel dizzy after I walk too fast or carry too much. Sometimes I worry it’s a preview of what’s to come. I don’t really know what will happen next.
In the meantime, I find no advantage in thinking of myself as a “poor thing.” There’s too much beauty in the world not to keep wanting to breathe it all in.
