Connecticut’s own learn getting the right diagnosis takes effort, patience
John Morthanos is doing fine now. He received a lung transplant to treat his idiopathic pulmonary fibrosis, a rare, fatal, lung disease. He’s back to a normal life.
It took a while to get to that point, though, with doctors referring him to others who really didn’t recognize the disease or its seriousness.
It’s a medical journey with a lesson: Work with your doctor, take an active role in your care, and if you don’t feel you’re getting any better, find a doctor who has the expertise to diagnose and treat your disease.
Right. It’s not as easy as it sounds. But it can be done.
“The primary (doctor) that I’ve been using the last six years kept sending me to different specialists, partly because of my insistence and partly because of his concern that there was a problem that was not being diagnosed,” said Morthanos, 64, of Stratford and a self-employed magazine consultant.
Idiopathic pulmonary fibrosis is similar to other types of PF; idiopathic means the cause is unknown. Diseases like scleroderma and rheumatoid arthritis are risk factors. “There’s some fibrotic lung diseases that can be caused by exposures,” such as to animals, said Dolly Kervitsky, vice president for patient relations and medical affairs for the Pulmonary Fibrosis Foundation in Chicago.
Morthanos’ story actually starts in 2001, when he went to Milford Hospital’s emergency room with what he thought was a heart attack. “They didn’t find anything” but told him, “You’ve got a spot on your lung.” He became increasingly short of breath and dizzy, but his primary physician told him “Oh, don’t worry about it.”
To that, the ER doctor, who had ordered a follow-up, said, “Find a new doctor,” Morthanos said. Which he did. But the referrals from that doctor weren’t the right ones either.
After a while, he was clearing his throat constantly and reflux was suspected.
By 2006, “when I went up a flight of stairs or took a shower I’d become short of breath” and his fingertips would turn white while standing. A pulmonologist told him he was overweight — he’s 6 feet tall and 228 pounds — or allergic to cats, which he and his wife, Paula, have had for 20 years.
His new internist “saw some activity in my chest that concerned him.” A biopsy was done, but only one sample was taken instead of the standard three.
“In 2011, I was really having a hard time breathing … I’m unhappy with what’s going on with the pulmonologist.” He was referred to a cardiologist, who told him his heart was fine. Ironically, it was the heart doc who made the referral for Morthanos’ lung disease that saved him: it was to the Winchester Chest Clinic at Yale-New Haven Hospital, where he met Dr. Erica Herzog and Dr. Mridu Gulati. They accurately diagnosed his condition and told him that if he didn’t get a lung transplant, he’d die within two or three years.
It got so he couldn’t screw in a wall plate without being out of breath, even on oxygen. Finally, he got the transplant at New York-Presbyterian Hospital.
Ego in the back pocket
Morthanos believes many doctors don’t know enough about uncommon conditions but are unwilling to admit it. “They have to put their egos in their back pocket and say, ‘Let me talk to somebody else,’” he said.
He blames himself too, for not catching on to clues that he had a more serious condition, especially when a doctor confused him with another patient in the waiting room who was in a wheelchair. “In hindsight I should have said, ‘What the hell is going on?’ My ego was too big.”
He’s lucky too. In seminars about treating IPF, “I’m sitting with 200 people, all on oxygen, waiting for a transplant. It’s a waiting game.” Only 68 lung transplants were performed in 2012.
Herzog, director of the Translational Lung Research Program at the Yale School of Medicine, said it’s common for IPF patients not to come in until their disease is advanced, because of “the non-specific nature of the symptoms and the delay in diagnosis. … Shortness of breath and cough — that could be almost anything.”
There is no approved treatment available for IPF either, although gene research at Yale may help determine whether a patient will have a short or long survival time, which could help determine when the patient should undergo a lung transplant.
“John was close to what we called end-stage, meaning his lungs were barely functioning,” she said.
Specialists like those at the Winchester clinic are more likely to diagnose IPF because “all we do is take care of various patients who have scarring of the lung,” at least half of whom have IPF, Herzog said.
She emphasized the patient’s vital role in care. “John was the ideal patient. … When he was diagnosed he became very motivated to stay alive. He worked with us to maximize our ability to support him.
“I think the patient really has to be an advocate for themselves and work with the physician to come up with a treatment plan he can follow.” Paula Morthanos was also a key support, both Herzog and John Morthanos said.
To find a specialist like Herzog and Gulati, the web is invaluable. “The Pulmonary Fibrosis Foundation has designated a network of care centers across the United States,” Herzog said. “These care centers will work closely with the community physician who lives in the patient’s town.
Asking for a second opinion is important too, she said. “In terms of finding a doctor who can give you a second opinion, first ask your own doctor (for names). … That’s actually most of our referrals,” Herzog said.
Kervitsky said, “Our website basically encourages people to look for certain signs … Many people think, ‘I’m breathless; I’m getting older.’ … It usually progresses to the point where people are more breathless with less exertion.”
PFF also lists specialists and other resources, such as guides and booklets that can be downloaded.
Orphan Drug Act is 30
Mary Dunkle, spokeswoman for the National Organization for Rare Disorders, which is based in Danbury, said this year is the 30th anniversary of the Orphan Drug Act and NORD, which supports research into treating rare diseases, those that affect fewer than 250,000 patients.
Since 1983, 447 new treatments have become available and research has begun on 2,907 potential treatments for rare diseases, Dunkle said. In 1983, there were 10.
While IPF now affects more than 250,000 people, it’s still listed on NORD’s website, where there is a report on the disease and resources. In all, NORD supports research into 7,000 rare diseases, so it’s a place to check out if a patient isn’t getting better.
“It’s become increasingly clear to us at NORD over the past year that diagnosis is still a really big issue … for rare diseases,” Dunkle said. “We’ve launched a new website where we’re posting information specifically for physicians and other medical professionals.”
She said patients should keep detailed notes and bring them to their doctor, and be sure the doctor will take time to discuss your symptoms. “You always want to feel like you have a physician who’s willing to listen,” Dunkle said. Not only should patients be advocates for themselves, but spouses should advocate for their loved ones, too.
So, how does Morthanos feel now? He reported, “At this point in time I feel like it’s 1982, except I’m not wearing paisley and polyester pants.”
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