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Ask anyone who has lived with a health problem and been frustrated in seeking an accurate diagnosis and they will tell you there is a moment of relief, a small spark of empowerment that comes with finally knowing exactly what’s causing their illness.

It may not be what they’d hoped to learn, but putting a name to an ailment is a big step toward dealing with it.

Julie Knutson experienced that when she was ultimately told she had inherited a widely undiagnosed disorder. She has leveraged that moment into doing something productive.

Knutson remembers being a school kid in the late 1970s and dreading days when students were required to partake in the President’s Physical Fitness program. She would be on her hands and knees at the end of the mile-run. “I was always told I could try harder,” Knutson painfully recalls.

She loved playing soccer but could not keep up.

She had repeated episodes with what was thought to be bronchitis.

It wasn’t until she was in her 40’s that she learned she inherited the gene combination that results in Alpha-1 Antitrypsin Deficiency. Her lung function is about 38 percent of what it should be.

The Alpha 1 Foundation estimates that it takes an average of three physicians to recognize and properly diagnose Alpha 1 and it takes seven years from the time symptoms appear before proper diagnosis is made.

“I was diagnosed....and I remember being up late that night, it was a beautiful night, tons of stars in the sky and snow on the ground. I was bleary-eyed from being on the internet for hours searching for anything I could find about this...I had a cup of hot tea and I went outside and I remember it was perfectly still, and quiet and I felt so totally alone,” she related.

It was then that Knutson decided to bring together people who have been diagnosed with Alpha 1.

She organized a support group and last Saturday was the group’s third get-together. Knutson has reserved a large conference room at Wyoming’s Fairview Medical Center, for the second Saturday, of each month, through 2005.

The support group welcomes anyone with Alpha 1 and their families to participate. They have food, sometimes a speaker, play a social game and spend time learning from each other’s experiences. Some have lived with Alpha 1 for a long time, while others are newly-diagnosed.

Last weekend there was a Bayer Direct representative visiting, asking about satisfaction with products and mail order services; she was loaded down with free samples of everything from anti-bacterial wash to pens.

The meeting attendance was down to about 15, probably due to busier holiday schedules, but there were 40 at the prior meeting. The support group’s first meeting was a Lake Minnetonka cruise.

Ron, a local resident, talked with the County Press about dealing with Alpha 1 and a lung transplant a year ago.

Through much of his life doctors thought he suffered from asthma until his sister was diagnosed with Alpha 1, which in her case was advanced and proved fatal.

Ron was advised that because it is genetic he should be tested.

Once he knew exactly what he had he began certain treatments that helped him feel healthier than he’d been before diagnosis.

Prolastin––a product that he self-injected for 10 years––aided him. The infusion maintains levels of protein in the blood which are reduced or eliminated when you have Alpha 1. The protein is alpha-1 antitrypsin (AAT) and people lacking it do not see the AAT normally produced by the liver fully released into the bloodstream.

Over time this liver malfunction damages that organ. The Alpha 1 Foundation reports this is the leading cause of liver transplants for children.

For Ron the disorder progressively impacted lung function, which was compromised to the point he became eligible for lung transplant. He’s now walking five miles a day and enjoys being outdoors and doing strenuous activities.

He says the transplant may not afford him a longer life, but it was more a question of quality of life for him.

“It’s not for everyone,” he explained of subjecting his body to a transplant.

“For certain people taking it easy, sitting quietly, is acceptable.

“I couldn’t do what I liked, so transplant was always an option for me.”

Ron attended Saturday with his wife and they described an on-going discussion with their children, “... who are not sure they want to be tested.” There’s concern about being identified and how it might affect insurance availability and premiums.

The Alpha 1 Foundation has a variety of materials that go into depth on this aspect of public education. Informed consent is the goal of the foundation and that includes understanding the good and the bad sides of diagnosis.

An estimated 10 million Americans have Chronic Obstructive Pulmonary Disease, which may be attributed to Alpha 1.

The World Health Organization recommends all individuals with COPD be tested by a simple blood test or mouth swab.

Tests identify people who have Alpha 1 so that resources can be directed toward research and treatment and studies gotten underway.

The foundation has a confidential registry and the numbers enrolled have gone from 119 in 1997 to 2,482 in 2004.

Under the direction of Dr. Charlie Strange the Research Registry Site in Charleston, South Carolina, is running a study. This study provides a way for family members of Alphas and others at-risk to learn their Alpha 1 gene type.

For questions or a free test kit, contact the study coordinator at 1-877-886-2383, or e mail to [email protected]. The test will be coded with a unique research number and results mailed to your home.

To find general information about Alpha 1 there are websites for the foundation at www.alphaone.org and the association at www.alpha 1.org. Or call 1-800-4ALPHA 1.

Al, who lives on the east side of Anoka County in Linwood Township, said he went for the test after his sister had been diagnosed following another bout with what she had always assumed was a bad cold.

The pulmonologist advised that her whole family should be tested, so everybody was, Al said.

Al still enjoys scuba diving, but takes precautions and he also self-infuses Prolastin.

The Alpha 1 diagnosis hasn’t drastically changed his ways and he is comfortable with seeking out the diagnosis.

His lung function is estimated about the level of a smoker even though he does not smoke, but it doesn’t appear to be worsening.

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