Amber Behrendt is a respiratory therapist at Boone Hospital who was surprised to learn about a genetic disease that caused irreparable damage to lungs, eventually leading to chronic obstructive pulmonary disease, often called COPD.
She, along with her friend and Boone nurse Jennifer Wyatt, co-founded of a non-profit called Alpha’s Voice which provides free testing for the public and support for people who test positive for Alpha 1.
Wyatt’s uncle lost his life only six months after testing positive for Alpha 1. Behrendt and Wyatt were worried their colleagues did not have enough information to recommend testing or provide care to people who have the disease.
“When I first found out about it, I started testing people in my family and we found five carriers,” said Behrendt. “My grandfather passed away from COPD and by tracing the genetics back, we found out he was a carrier. It’s sad to me that I was not able to help him out.”
The pair traveled to conferences and read everything they could find to educate themselves. Now they work with Dr. Mohammad Jarbou, MD, and other respiratory therapists to provide support for patients who test positive.
Alpha 1-antitrypsin deficiency, as it is officially known, is a genetic condition that affects the liver or the lungs. Alpha 1 is a protein that is mainly produced in the liver then secreted through the blood stream and goes to the lungs.
People who are born deficient of Alpha 1 don’t have enough protection for their lungs. During the course of many years the lungs deteriorate from smoking, irritants to the lungs, chemicals or pollution. The same protein can also back up into the liver and cause different problems such as jaundice.
“Most people don’t find out they have Alpha 1 until they see signs or symptoms,” said Behrendt. “By then you’ve already had so much damage done to the lungs that you don’t have as many choices along the lines of treatment.”
Since the disease is genetic, early detection is key to preventing lung and liver damage. Behrendt and Wyatt encourage people with COPD or a family history of lung disease to get tested. A test involves a simple finger-prick.
Treatments are available for people who test positive for Alpha 1. The type of treatment depends on the level of damage in the lungs and liver. Two of the options include blood infusion therapy and ultimately a lung or liver transplant.
Alpha’s Voice offers free testing with the help of Boone Hospital and other sponsors. If a person tests positive, Behrendt and Wyatt work with him or her to find a physician and other support.
“My nephew was four at the time he was diagnosed as a carrier,” Behrendt said. “I feel like we can offer him better choices and monitor him to see how he does and hopefully stay ahead of it.”
If you would like education or to get tested for Alpha 1, please contact Amber Behrendt at firstname.lastname@example.org.