Looking to raise awareness and find a cure for genetic disorder Alpha-1

Assistant scientist Karina Krotova works in the Alpha 1 lab at UF Health Shands Hospital in Gainesville, Fla. on Thursday, November 20, 2014. Erica Brough/Gainesville Sun

Deborah Labud was 36 years old, living in Virginia and working as a waitress when she began having trouble breathing.

The shortness of breath hit when she stood up, tried to climb stairs or carried trays at work.

“I got misdiagnosed with bronchitis a lot,” said Labud, now 59 and living in Gainesville.

Eventually, she was accurately diagnosed with Alpha-1 antitrypsin deficiency, a genetic disorder that can lead to lung or liver disease. At the time of her diagnosis, Labud smoked, and that worsened the lung disease she’d developed.

She was placed on a lung transplant list in 1997 and waited for years as her health deteriorated. Then, on Thanksgiving Day 2001, with her lung capacity in the range of 15 percent, she received a lifesaving transplant. The lung came from a young woman who died of a brain aneurysm just before her 29th birthday. Labud said she later met the donor’s mother.

Thirteen years later, Labud’s transplant anniversary fell on Nov. 22 this year, near the end of the annual Alpha-1 Awareness Month.

This year, researchers at UF Health Shands Hospital and Labud, a patient turned advocate, say progress still needs to be made spreading awareness among doctors and patients and making strides in research, treatment and, hopefully, the search for a cure.

Dr. Mark Brantly, who heads the Alpha-1 research program at the University of Florida College of Medicine, said about 6,000 people in the country are currently diagnosed with Alpha-1. But Brantley said estimates are that about 100,000 people in the United States actually have the disorder, making Alpha-1 the most common genetic form of chronic obstructive pulmonary disease.

“There are more cases of Alpha-1 in the country than cystic fibrosis,” Brantly said. “But the vast majority have not been identified. So they lurk out there in the COPD population, and often by the time they are identified, it is too late.”

Alpha-1 antitrypsin, or AAT, is a protein made in the liver that enters the bloodstream and helps protect the body’s organs, particularly the lungs, “from the harmful effects of other proteins,” according to the National Institutes of Health.

Alpha-1 antitrypsin disorder occurs when a person inherits two defective alpha-1 antitrypsin genes, most commonly two Z genes, according to the American Lung Association. Those genes then produce an abnormal alpha-1 antitrypsin protein that gets stuck in the liver.

It can lead to liver disease, most often in children, and lung disease in adults.

Brantly first became interested in treating Alpha 1 about 25 years ago, when he was treating a 35 year-old patient who smoked, but not heavily, and was dying of emphysema. The man was also diagnosed with Alpha-1.

“The picture of him is burned in my head,” he said.

While Brantly said a lot needs to be done in areas of research and treatment, he pointed to progress over the decades.

Nationally, research has moved ahead thanks to more than $40 million in grants from the Alpha-1 Foundation. UF now screens about 75,000 patients a year to see if they have Alpha-1, he said, and early diagnosis before liver or lung disease progresses is a key for patient care.

But researchers are still trying to determine why the disorder strikes some people while others who have inherited the two defective genes do not get ill.

“We don’t completely understand who gets liver disease,” said Virginia Clark, an assistant professor in the UF College of Medicine Division of Gastroenterology. “It’s genetic, and some people never get sick.”

For a child with Alpha-1 who gets liver disease, the only treatment currently available is a transplant, Clark said. For that reason, she said working toward a cure is the most important priority during awareness month.

“More people need to be diagnosed, and there needs to be more community awareness and physician awareness and a cure. I think we all want that,” Clark said. “To get that abnormal protein out of the liver, that’s the holy grail.”

Wildwood resident Lorraine Williamson’s son Brandon, now 12, was diagnosed with Alpha-1 at 8 weeks old. His liver disease progressed, and he nearly died at least three times, Williamson said. In November 2009, at age 7, he had a liver transplant. In the end, she said Brandon was “extremely lucky,” spending only 10 hours on the transplant list before his surgery.

With some potential drugs now in clinical trials, Labud and Brantly both said they remain hopeful for more strides in treatment and a potential cure.

For Labud, working to raise awareness and money for Alpha-1 care and research, has become a passion. She has been the head of a Gainesville Alpha-1 support group since the 1990s. Before her transplant, she spent 10 years disabled and out of work. She has now been back in the workforce 10 years, working at LifeSouth Community Blood Centers. She now takes part in fundraising events such 5K walks and weekend bicycle rides.

“We are really working hard on a cure,” she said.

By Christopher Curry
Gainesville Sun Staff writer

Published: Tuesday, November 25, 2014 at 11:10 a.m.

Last Modified: Tuesday, November 25, 2014 at 11:10 a.m.