What is Alpha One Antitrypsin Deficiency, how it can lead to COPD

PHILADELPHIA (WPVI) -- About 11 years ago, Ron MacGuire Jr. suffered a terrible fall while at work.

"I fell seven stories and survived," he said admitting that he is still stunned he wasn't killed.

His body went through a significant amount of trauma, including two collapsed lungs. But it wasn't until he left the hospital that he was dealt the next medical blow.

"I just couldn't breathe, I literally couldn't breathe," he said. "I didn't bounce back like I should have."

His at-home nurse suggested he go to the Temple Lung Center for a very specific test. It turns out he has Alpha One Antitrypsin Deficiency, which is a genetic disorder that causes COPD.

"You get one copy of an alpha one gene from your father and one copy from your mother to get the full blown disease," explains Dr. Matthew Gordon, who specializes in thoracic medicine and surgery.

Some people can maintain their health by simply avoiding certain risk factors. Don't smoke, and avoid occupational exposures like dust, fumes and smoky environments. That's not the case for MacGuire.

"The next step that we're looking at is at least predominantly for the lung is what we call augmentation therapy where we actually take pooled alpha one proteins and you get this through an infusion once a week," said Dr. Gordon.

The infusions plus having access to oxygen has helped MacGuire return to doing some of the things he loves, like riding his motorcycle.

Now, at 52-years-old, MacGuire knows eventually his next step is a double lung transplant. He's remaining optimistic.

"I am extremely grateful for just everybody who's been helping me with this," he said.

There are still many things that are being researched concerning Alpha One, like how some people who have it never develop symptoms, yet others, like MacGuire, have to get weekly infusions.

Another point is that you can also be a carrier of the disease, never have symptoms but still pass it on to your children.
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