Grand Forks Mother Trying to Raise Awareness of Son's Rare DiseaseA Grand Forks woman is trying to get the word out about a commonly mis-diagnosed disease. The genetic disease, Alpha-1, can affect the liver and lungs in children and adults.
By: David Schwab, WDAZ
A Grand Forks woman is trying to get the word out about a commonly mis-diagnosed disease.
The genetic disease, Alpha-1, can affect the liver and lungs in children and adults.
Jennifer Compeau's four-year-old son Connor was diagnosed a year ago.
The disease is genetic and caused by the lack of protein that is made in the liver.
It protects the lungs and liver from damage due to things like infection or smoking.
Connor has a more rare and severe form of the disease where it has developed into cirrhosis of the liver.
"I want people to know about it. Because we didn't know that we were carriers of the disease. If we would have known I would have had him tested right away. He possibly wouldn't have had cirrhosis right now," Compeau said.
Since birth, Connor has been fighting off many illnesses including a four-month bout with jaundice. Doctors would make the Alpha-1 diagnosis only after it was discovered his spleen and liver were enlarged. Since then Connor has gone on medication and his condition has improved.
Doctors say he will have to have a liver transplant in the future.
"We go down to Rochester every three to six months, sooner if things get worse. We just really have to watch. Flu shots, pneumonia shots. He just can't get sick," Compeau said.
Because Alpha-1 is so much like asthma and other diseases, it can take a long time to identify. On average, patients with Alpha-1 will see three doctors over seven years before they are diagnosed. And that's way Compeau is working so hard to get the word out.
"Anybody with an unexplained liver function test, emphysema, should get tested for this, and their family members. It is genetic," Compeau said.