Ivan’s Story

Even though they both worked in the medical field, Ivan and his wife Nora knew very little about a disease called transthyretin amyloidosis (ATTR) until Ivan was diagnosed with it. As with other rare diseases, finding answers about ATTR can be challenging for patients, not only because disease awareness is lacking, but because symptoms often appear over time and can easily be attributed to other conditions.

Ivan, a longtime physician, mistook the initial signs of ATTR for benign effects of aging. But after feeling out of breath from routine activities such as climbing stairs, Ivan suspected something more serious was going on. Up until then, he never had any trouble leading an active lifestyle—he and Nora enjoyed hiking, traveling, cycling, and cross-country skiing.

As his energy levels declined, and then after experiencing heart palpitations, he visited his doctor. A cardiogram test revealed a form of heart arrhythmia known as apical premature contractions, which is common in older patients: “it means you get an extra beat now and then,” Ivan says. He didn’t think much of it. However, over time, his arrhythmia became more frequent and his blood pressure gradually increased.

Five years after the initial presentation of his symptoms, Ivan’s cardiologist diagnosed him with a more serious heart condition, atrial fibrillation, which can lead to increased risk of stroke, heart failure, and other complications. The possibility of having ATTR still wasn’t on Ivan’s radar, though he soon learned that atrial fibrillation is common among patients with the disease.

Looking for answers, Ivan’s cardiologist ordered more tests: an angiogram and a cardiac biopsy. The results finally revealed the source of Ivan’s health problems. At 65 years old, he was diagnosed with the non-hereditary form of ATTR, called wild-type ATTR cardiomyopathy or wtATTR-CM. The disease affects roughly 300,000 people in the U.S.—although it is likely significantly underdiagnosed due to its nonspecific symptoms and a historical reliance on biopsy testing.

Ivan’s background in medicine has given him an edge in understanding the latest scientific literature about ATTR, including new therapeutic approaches that may one day treat the disease. For now, there is no way to slow disease progression. “The disease is inexorable,” he says. “It will continue to march on, no matter what you do.”

Although he is no longer able to scuba dive or walk miles while traveling with his wife, Ivan says he still finds intrigue and adventure in different, more accessible ways. Together, he and Nora enjoy reading, spending time outside in their backyard, and keeping up with their two-year old granddaughter. “If anything, the disease has brought us closer,” says Ivan. The couple recently celebrated their 41st wedding anniversary.

“It’s disappointing that we can’t do some of the things we used to do,” he says. “But we still do interesting things together. We’re both still interested in biology—we can come out in the yard and find a jumping spider that’ll interest us both, and that means a lot to me. If you can take small things and enjoy them, you don’t have to hike the Appalachian Trail.”

Ivan has learned to embrace a slower pace of life, but says he has no plan of giving in to the disease.

“You do what you can to fight it, and hope that along the way you’re going to get some help,” he says. “So far, I’ve had help from my wife, my cardiologist and my internist. And, from what I’m reading, I think the pharmaceutical world is going to come up with some new medications that may help me even further.”