“My mom’s family has a history of breathing problems, and we have lost several members to emphysema and COPD-like conditions, but never could find the exact causes. Both my mom and myself have always been told we had COPD of unknown origin,” said Diana.
Last year my Mom was diagnosed with emphysema and had to start using oxygen. Last year, after being diagnosed with emphysema, the doctor finally decided to run some test on Diana’s mother for some of the more rare conditions that would cause her symptoms. When the tests came back, Diana’s mother found out she had a condition called alpha-1 antrypsin deficiency on both genetic markers and needed to start treatments right away
The treatments are actually a plasma infusion given weekly for the rest of her life. If we had discovered this when she was younger it would never have gotten so bad, it will not cure her but at least she will not get any worse.
“She, of course, was very nervous and confused about the whole process and treatments, but after all my years of working in blood services, I was able to give her more information and helped her understand the process and treatments,” said Diana. “It was so comforting to me to be able to provide her with the information and assurance she needed to take this step.”
“Now we are able to have other family members be tested at much younger ages and get the treatments they need in order to not have to suffer with these conditions.”