The Clinton Herald, Clinton, Iowa

May 18, 2013

Nancy Holt

Samantha Pidde Herald Staff Writer
The Clinton Herald

---- — CAMANCHE — Nancy Holt, 65, of Camanche, had a port placed in her chest this week to facilitate weekly plasma infusions. She said this is the best way to treat Alpha-1.

For the past few years, Nancy’s health has been declining. At the same time, her youngest daughter seemed to have bronchitis all of the time. In December 2011, doctors found she had the genetic condition Alpha-1 Antitrypsin Deficiency. In March 2012, a genetic test revealed that Nancy has the disease as well. She believes her mother, who died at 67, probably had it too.

According to the Alpha-1 Foundation, this condition occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT), mainly produced in the liver. This protein’s main function is to protect the lungs from inflammation caused by infection and inhaled irritants. This condition is caused when the AAT is abnormal and can not be released from the liver at a normal rate. This can result in serious lung or liver disease.

“With this, you go to bed tired and you wake up tired,” Nancy said.

Nancy said her condition manifested later in life than her daughter’s because she never smoked. The disease has slowed her down. She said people will tell her she does not look sick; however, just carrying a bag of groceries inside will take her breath away.

Nancy has only been on the treatments for 10 weeks. Every week she receives plasma infused with AAT. Nancy said this will not cure her, but hopefully it will halt the progression of the disease. She added that if she was not on the treatments, she could eventually need a lung or liver transplant.

Nancy hopes to get the word out about Alpha-1. The Alpha-1 Foundation website estimates that there are approximately 100,000 people with the condition. The website suggests that as much as three percent of those diagnosed with Chronic Obstructive Pulmonary Disease may actually have undetected Alpha-1.

“But if you haven’t heard of this you don’t even know it exists,” Nancy said.

She encourages people who have experienced symptoms of Alpha-1 or has a family history of the disease to get tested for it.

Common symptoms of Alpha-1 Symptoms related to the lungs: Shortness of breath Wheezing Chronic cough and sputum (phlegm) production Recurring chest colds Symptoms related to the liver: Eyes and skin turning yellow (jaundice) Swelling of the abdomen (ascites) Vomiting blood or passing blood in the stool