Health Check: Alpha-1 antitrypsin deficiency
By Barbara Morse Silva
For Peter Cook, walking a short distance leaves him breathless.
"Any kind of activity that you might consider mild is strenuous for me," Cook said.
Fourteen years ago, Cook was diagnosed with a genetic disorder known as alpha-1 antitrypsin deficiency.
Pat Hegnauer, a mother and grandmother, was diagnosed 26 years ago.
"I'd walk down the street and I'd have to stop, and I would pretend to look in store windows and I hear a lot of alphas do this, but what you're trying to do is catch your breath," Hegnauer said.
Cook and Hegnauer thought they had asthma or some other lung condition. But Cook said his symptoms worsened considerably.
"A serious shortness of breath. Heavy, heavy wheezing. Lots of mucous," Cook said.
His doctor tested him for almost everything, then during one face-to-face with him.
"He had a pencil in his hand and he turned it over eraser side down and he was bouncing on his desk and I remember him going, 'Boing. What the heck? You couldn't possibly have it. OK, we'll test you anyway," Cook said. "It was the alpha test.'
Cook tested positive. The problem is many doctors don't think to test for this genetic disorder that can attack the lungs or the liver.
"We're missing a protein in the lungs," Cook said.
The liver usually makes the alpha protein, and its main function is to protect the lungs. But because it's lacking in people like Cook and Hegnauer, a common treatment involves adding to or replacing that missing protein by way of infusion. Cook and Hegnauer have this done. In Cook's case, it's biweekly. Hegnauer has her infusions done every week to help slow the deterioration of their lungs.
According to the Alpha-1 Association, the genetic condition affects one out of 2,500 people in the United States. On average, it takes three doctors and seven years to get a correct diagnosis.
Who should be tested? People with unexplained lung problems and a family history. All it takes is a simple blood test.