HOOVER, AL, November 20, 2013 – Nell Redmill, Amanda Salzman and the Alabama Alpha-1 Support Group acquired a proclamation this month from Governor Robert Bentley declaring November as Alpha-1 Awareness Month. This proclamation effort is lead by individuals throughout Alabama and the US affected by Alpha-1 Antitrypsin Deficiency (Alpha-1), a rare genetic condition that can cause life-threatening liver disease in children, and can also lead to severe liver and lung disease in adults.
According to Redmill, "For a long time, my husband (a non-smoker and non-drinker) was misdiagnosed by his General Practitioner as having COPD, asthma, bronchitis and emphysema. Finally, in 1990, he was diagnosed by a pulmonologist as having Alpha-1. Soon afterward, he was put on augmentation therapy, which are weekly IV infusions of alpha-1 antitrypsin derived from human plasma. The intention of Augmentation therapy is to slow or stop the progression of his lung destruction. I also made it as point to test my son when he came back home from college and found out he was a carrier of the Alpha-1 gene. We got this Proclamation because too many people in this world are either undiagnosed or misdiagnosed. Since my husband passed away in 2001, I have become an Alpha-1 Support Group Leader. From being a leader, I can learn more about Alpha-1, spread education and connect people to the resources that can help them live a healthier life. For all those that are newly diagnosed, join a support group, become involved with the Alpha-1 community, go online and visit alpha1.org and alpha-1foundation.org and take care of your health."
According to Salzman, "I was diagnosed in Alpha-1 in 1999 after my mother was diagnosed. As this condition is inherited, family testing is important. I hope this proclamation can help generate awareness which can help people become diagnosed and tested earlier. Awareness can lead to early detection."
Most patients and many physicians have never heard of Alpha-1, an inherited condition that may lead to deterioration of the lungs and liver. All too often, Alpha-1 causes permanent - and even deadly - organ damage because of delayed diagnosis. Alpha-1 affects approximately 100,000 people nationwide and less than 10 percent of those living with it have been properly diagnosed. An estimated 20 million people in the U.S. are undetected carriers of an abnormal gene that causes Alpha-1 and could pass it on to their children.
According to Michael Krowka, M.D. of the Mayo Clinic, "People with chronic breathing problems or unexplained liver disease, could be suffering from Alpha-1 and should ask their doctors about testing for Alpha-1." A simple blood test can determine if your family's lung or liver problems are due to inherited Alpha-1 Antitrypsin Deficiency. Individuals considering testing for Alpha-1 should call the Alpha-1 Association's genetic counselor at 1-800-785-3177.
Signs and Symptoms:
The World Health Organization (WHO), the American Thoracic Society (ATS), the European Respiratory Society (ERS), and the Alpha-1 Foundation's Medical and Scientific Advisory Committee (MASAC) recommend that individuals diagnosed with the following diseases should be tested for Alpha-1: Chronic Obstructive Pulmonary Disease (COPD), emphysema, bronchiectasis, chronic bronchitis, asthma that is incompletely reversible after aggressive treatment, chronic liver disease, unexplained liver disease in infants and children, the skin disease panniculitis.
About the Alpha-1 Foundation:
The mission of the Alpha-1 Foundation is to provide the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency. For information, visit www.alpha-1foundation.org.
About the Alpha-1 Association:
The mission of the Alpha-1 Association is to identify those affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improve the quality of their lives through support, education, advocacy, and to encourage participation in research. For information, visit www.alpha1.org.