Benefit to aid victim of progressive illness

Justina Davis, left, sits beside her mother Donna Williams, right, inside Williams' home in Maurertown. Williams suffers from alpha-1 antitrypsin deficiency, an inherited disorder that may cause lung and liver disease. Davis is organizing a benefit for her mother with a silent auction, bake sale and a dance that will be held at the American Legion Post No. 77 in Strasburg on Saturday. Rich Cooley/Daily

MAURERTOWN — Donna Williams, of Maurertown, was 24 years old when her left lung collapsed the first time.

She was treated in Woodstock, but the lung collapsed again that year and a third time three years later.

“It’s like someone is standing on your chest,” Williams said. “It’s like a ton on your chest and you can’t breathe.”

Chest tubes were inserted, and her lung collapsed a fourth time. Doctors in Winchester removed the diseased lower lobe of her left lung, but since then the disease has spread to her right lung, too.

Things might have gone differently if she had been diagnosed then with alpha-1 antitrypsin deficiency, instead of 15 years later.

Donna Williams, of Maurertown, suffers from alpha-1 antitrypsin deficiency, an inherited disorder that may cause lung and liver disease. Rich Cooley/Daily

“It’s hard to say,” said Williams, 51. “It’s a progressive lung disease is what it is.”

Williams lives on oxygen and said Medicare covers her $10,000-a-month weekly infusions of the enzyme prolastin-c, to stall progression of the disease.

The disease prevents her from working, and she needs more continuous care at home than her 31-year-old daughter Justina Davis can provide for her.

So to offset the addition of an in-home nurse, a benefit from 4 to 10 p.m. this Saturday at the American Legion Post 77 in Strasburg will include a bake sale, a dance with deejay Chilly Willy and a silent auction of 75-80 items donated by community members and area businesses.

“It’s amazing, the people who have donated,” said Williams, whose her daughter had a time convincing her to let the community do this for her. “It’s overwhelming how a community will come together when something like this happens,” Williams said.

Alpha-1 isn’t anything new, said Dr. Jeffrey Lessar, a Winchester pulmonary care specialist, and a free test offered at health fairs or at physicians’ offices can help even the genetically predisposed to avoid most symptoms.

“It’s an easy screening test to be done, and it [takes] a couple drops of blood,” Lessar said.

But alpha-1 is also easily misdiagnosed, especially for those without the risk factors.

Smokers with alpha-1 have an increased risk of chronic obstructive pulmonary disease, emphysema and cirrhosis of the liver, Lessar said. But non-smokers might not realize an underlying cause of symptoms that include signs of lung trouble or liver trouble, such as shortness of breath, wheezing, chronic bronchitis, recurring chest colds, lower exercise tolerance, asthma, year-round allergies and bronchiectasis, unexplained liver disease, elevated liver enzymes, jaundice, swelling of the abdomen or legs and vomiting of blood.

Alpha-1 may result in a serious lung disease in adults and/or liver disease at any age, the Alpha-1 Foundation reports at its website http://alpha-1foundation.org. The disease affects an estimated one in 2,500 Americans in nearly all populations and ethnic groups. Another 19 million carriers have one normal and one defective alpha-1 gene.

Alpha-1 affects Williams because both of her parents were carriers of defective alpha-1 genes. Her mother, a longtime smoker, was diagnosed with emphysema.

Once a smoker, Williams was told at age 43 she had the lungs of a 70-year-old. Now she’s been smoke-free for 2 1/2 years.

“It was a shock to find out that I have a genetic disease,” she said, “and more of a shock to find out I won’t live without a transplant.”

But her transplant isn’t a certainty.

Tricky operations, lung transplants pose as great a risk as they do a solution, Lessar said.

“It’s not a technically difficult surgery,” he said. It simply requires the attaching of airways and blood vessels, but a transplanted lung has challenges that other organs don’t.

“Your lungs aren’t sterile,” Lessar said. “They’re exposed to the environment.”

Everything a person breathes can affect the lungs, and after three or four years the body can successfully begin to reject a transplanted lung.

“But we are making great strides very quickly,” Lessar said.

Williams’ surgery at Inova Fairfax Hospital’s transplant center is contingent on her doctors first determining if a recently detected suspicious nodule in one of her lungs is cancerous. If so, she won’t be approved for a transplant until classified cancer free. For now, she can only wait and live as healthy a life as possible to give herself her best chance.

Because she’s a match, Williams said her children have been tested. Davis has learned she’s a carrier.

Classified as “not deficient,” Davis needs to remain vigilant in case her condition progresses, her mother said.

“They’re thinking hers is [related to the] liver,” said Williams.

The presence of alpha-1 has also increased Williams’ susceptibility to other diseases.

She takes 2,000 international units of Vitamin D to counteract a deficiency and receives treatment for a thyroid condition, but said she has refused medication for fibromyalgia.

Instead, she said, “I try to exercise and stay away from stress.”

“I try to live as normal a life as I can,” she said. “Take advantage of every day.”

The Benefit for Donna Williams will be held from 4 to 10 p.m. Saturday at the American Legion Post 77, 157 E. Washington St., Strasburg. Admission is $5. For information or to donate to the effort, call Justina Davis at 540-335-0553 or Val Spiker at 540-335-5474. Contact Dr. Jeffrey Lessar at Winchester Pulmonary, 1400 Amherst St., Winchester, by calling 540-662-4263.

Contact staff writer Josette Keelor at 540-465-5137 ext. 176, or jkeelor@nvdaily.com