Take a deep breath in. Feel your lungs expand easily, allowing the oxygen to flow freely through your body. Let out a slow, calming breath.
Most of us take breathing for granted, but for those with the rare genetic disease Alpha-1 antitrypsin deficiency, simply breathing in and out is a function which takes enormous effort. Alpha-1 is a genetic disease that affects both the lungs and liver. When the liver doesn’t create enough of the Alpha-1 protein, the white blood cells in your lungs attack the healthy organ, creating holes. This can lead to various chronic obstructive pulmonary diseases, or in severe cases, a single or double lung transplant.
“It’s not a rare disease, but one that’s rarely diagnosed,” says Bill Jollie, member of Alpha-1 Village Foundation, a 501-C3 nonprofit organization in Charlotte which supports patients of the disease. “Only 10 percent of patients know they have Alpha-1 because the symptoms are so common to other diseases, that they are usually not tested.”
The overall goal of the nonprofit is to bring together Alpha-1 patients for support and education. It was named Alpha-1 Village because Jollie, along with founder Ben Hund, hope to create an actual Alpha-1 village in Asheville next summer, where patients can come for relaxation and education. They hope to have doctors, nutritionists and physical therapists on site to have individual consultations with patients.
“We’d like to have the event in Asheville because the higher elevation makes it easier for us to breathe,” says Jollie. “In the summer, most Alphas are confined to their homes because the air quality is so bad and the temperature is so high. This would give them a chance to get away, all expenses paid, for them and their caregivers.”
A tough family history
Jollie, 39, was diagnosed with the disease two years ago while working for Griflos, a company which makes a protein replacement therapy for Alpha-1 patients. He suspected he might have the disease after becoming familiar with the symptoms and after doing some research into his past.
“The disease originated in Scandinavia, and my brother and I traced our roots back to the region,” says Jollie. “It’s also a hereditary disease, and my father passed away at age 39 from what we think was lung cancer. Alpha-1 patients are twice as likely to develop lung cancer, and although we can’t know for certain, we think he must’ve had it.”Jollie did an at-home test for Alpha-1, which was available for free online and sent to his home. He told his wife, Traci, he was sure it would come back positive. “It’s eerie, because my father died at 39 – probably from Alpha-1 – and he had two children,” says Jollie. “Here I am, 39 with two children, going through the same thing he was. It makes me a little scared.”
Like his father, Jollie also has cancer. He was diagnosed with non-Hodgkin’s lymphoma in August 2011. In January of this year, Jollie saw oncologists at Duke University Hospital who gave him a bright outlook.
“Even with the Alpha-1, I’m actually feeling great,” says Jollie. “The doctors said they have every reason to think that I’ll respond well to the treatment.”
An emotional diagnosis
Breathing is something 49-year-old Ben Hund says he’ll never take for granted again. Hund was diagnosed three years ago but considers himself lucky.
“I was diagnosed within three months of showing symptoms,” he says. “That almost never happens. Most of the time, people are diagnosed when they are at the end game. They almost immediately go on disability because it was caught so late. ”
Three years ago, Hund was flying to New York with a friend when he noticed he was having difficulty breathing. He chalked it up flu symptoms and stocked up on over-the-counter medication when they landed.
“When I met my wife in New York, I told her to go out with our friends, that I was just going to take some nighttime medicine and sleep it off,” Hund says. “When I woke up in the morning, I took one step and fell to my knees. I told my wife we needed to go back to Charlotte. I thought, if I’m going to die, I want to be in my own bed.”
Hund was diagnosed with pneumonia, but even after it cleared up, his doctor said his lungs still didn’t sound right. It was in March 2008 that Hund was diagnosed with Alpha-1 and emphysema.
“I was completely shocked,” says Hund. “I went through every emotion a person can go through; I mean, I found out I had an incurable disease and a rare genetic disease all at once. It’s just now that I have finally come to terms with it.”
Hund was a smoker, and symptoms show up more in smokers than in non-smokers. He and Jollie believe that’s the reason Alpha-1 often goes misdiagnosed.
“Most of the time, doctors assume the patient has a hard time breathing because they smoke,” says Jollie. “Most never even get tested for Alpha-1 for that reason alone.”
Sandra Cook, 51, was one of those patients. She had difficulty walking short distances without becoming out of breath, but thought it was because she smoked. In July 2008 she quit smoking and expected to be able to breathe easier, but when she couldn’t, she saw a pulmonologist.
“I was devastated," says Cook. "I used to love swimming in the ocean, taking walks at night and gardening with my husband. I knew I would never be able to do those things again.”
In the summer of 2010, Cook received the news that she would need a double lung transplant, but was taken off the donor list because of a high antibody count in her bloodstream, making surgery too risky.
“For a moment, I had a glimmer of hope,” she says through tears. “I saw myself chasing my granddaughter around the yard and walking on the beach with my girls. And just like that, it was taken away.”
Duke University Hospital gave Cook her hope back when they told her she’d eligible for the transplant if they were able to lower her antibody numbers with treatment. They also informed her it would cost nearly $85,000 out of pocket.
Since September 2010, Cook has been able to raise $72,000 through fundraisers and the charitable organization Children’s Organ Transplant Association. All the money raised is in a bank account set up by the organization, and if for some reason Cook can’t have the transplant, the money will be donated to another transplant patient.
Cook says she’s thrilled Alpha-1 Village is part of her life. It’s the first organization in the Charlotte region for Alpha-1 patients, and most are excited simply because they’ve never met anyone else with the disease.
“We started our support group in November (2010) and had about 15 Alphas show up,” says Jollie. “It was amazing to hear everyone’s different stories, because the disease affects each patient differently.”
Hund adds, “Everyone was there to support one another, which is so important. We want them to learn how to live life, instead of life living them.”
On March 16, the nonprofit will be holding the Birdies and Bagpipes golf tournament at the Ballantyne Hotel and Resort, where they also hold their support group meetings. The tournament will feature live entertainment, dinner, awards and a silent auction. Individuals are $150 and foursomes are $525, and all proceeds will go toward the creation of the village event in Asheville.
“We can make it, as long as we do this together,” says Jollie. “We want patients to know that this is the end. Alpha-1 is not a death sentence. We’re here to support you.”
More InformationFor more information on Alpha-1 Village Foundation, visit their Facebook page.
To register for the Birdies and Bagpipes golf tournament, visit http://birdiesandbagpipes.eventbrite.com.
To donate to Sandra Cook, visit her website.