Alpha-1 Awareness Month hits home for one local family
Updated On: Nov 21 2012 11:46:42 AM CST
Eight-year-old Saddie Bruderer brought out her American Girl doll she made to look like her. In the kitchen, her mother Misti Bruderer flipped through pamphlets with information regarding a rare disease known as Alpha-1.
A typical third-grader, Saddie is a dancer and appears as physically strong as is her spirit. But she has been diagnosed with Alpha-1, a genetic disease that attacks the lungs and liver.
With Idaho Gov. C.L. "Butch" Otter formally announcing Idaho will join the nation in celebrating National Alpha-1 Awareness Month, Bruderer decided it was time to raise awareness about the disease that has made its way into their family's home. Like most people, the Bruderer family had not heard of this disease before the diagnosis.
"Already I had Googled so many things...like what do elevated liver enzymes mean?" Bruderer said as she described her reaction when Saddie's doctors told her the news. "What could this be? Never once did Alpha-1 pop up."
It all started when Saddie came down with the flu in 2009. After bloodwork tests came back, doctors discovered she had more than just the common flu, but one of the most misdiagnosed diseases in the United States. People often mistake Alpha-1 for emphysema or asthma.
Bruderer says there are 20 million carriers of the Alpha-1 gene, and 100,000 people actually have the disease. Her doctors in Utah said 95% of people with the disease have never been diagnosed.
People who have Alpha-1 means they do not have the proper Alpha-1 proteins in their body to protect the lungs and liver from diseases and infections. This can be fatal if untreated, resulting in liver and lung disease.
"You think, my kid has something that the only real cure is that a liver transplant or lung transplant, which really isn't a cure," Bruderer said.
This is true, since transplants are usually a costly procedure for most families. However, doctors are currently in the process of finding a way to inject the Alpha-1 proteins into the body of patients with the disease.
As for Saddie, she's not only staying brave, but excited to be a shining example for her two heroes: her doctor and family.
"When I grow up I want to be a doctor because I want to be able to help kids who also have Alpha-1," Saddie said.
Once every couple months Saddie has to go in for treatments and sometimes complicated surgical procedures. She and her family have to go to lengths in order to keep her lungs protected from outside environments that could cause infections.
In the meantime, Saddie will continue to play princess, go to dance practice, and live her life as a normal girl.