13 WTHRNancy Irsay urges testing for genetic lung disorder
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Nancy Irsay
Dr. Kyle HogarthAnne Marie Tiernon/Eyewitness News
Carmel - There is a new push for patients who have breathing problems to see if their asthma, COPD or emphysema is really something else that could impact their family tree for generations to come.
In Carmel, Nancy Irsay knows the cost of a delayed diagnosis. A weekly infusion replaces a protein she lacks because of a genetic lung disorder called Alpha-1 Antritrypsin Deficiency, or Alpha-1 for short.
"What the therapy really does is it stops your lung from decreasing anymore," she said.
Her lung capacity is about 40 percent. A nationwide push is on to find and diagnose more patients like Nancy when they are younger so their lung decline can be diminished with treatment.
"You don't grow new lungs with this. We just protect what you've got. If all you've got is 20 percent, that is not great, is it? But if I found you 70, 85 percent lung function, phenomenal. We can keep you there," said Dr. Kyle Hogarth.
Dr. Hogarth from the University of Chicago heads up clinical trials for Alpha-1 treatments and travels the nation encouraging doctors run a simple a blood test on patients with breathing issue to find Alpha 1 patients earlier.
"If I had gotten on this sooner it would have been a lot better," said Nancy, who first had symptoms at 20 years old but got the diagnosis decades later.
"Either you have it or you don't," said Dr. Hogarth.
Hogarth says there are roughly 6,000 diagnosed cases nationwide, but estimates there are 100,000 Americans with the full on disorder and millions more who are genetic carriers.
"It puts your whole family tree at risk if you have this," he said.
To find them, now Hogarth wants patients to be proactive.
"If you have been told you have something wrong with your lungs, if you are taking an inhaler because someone said you have asthma; you have COPD; you have chronic bronchitis; you have allergic bronchitis; pick a term that someone says you ought to take an inhaler, and they say there is something wrong with your lungs, you should get this test," he said.
"I hope somebody goes to their doctor and says, look, test me for Alpha-1. It's just a blood test," said Nancy.
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