Alpha-1: Family Diagnosis

by Dawn McGee, MS, CGC

When we talk about testing family members for Alpha-1 after an initial diagnosis in one member, most stories focus on the hurdles of discussing testing and the unwillingness to test by family members. It is not often we hear of a true success story in terms of discussing family health history and having family members follow through with testing. However, for one couple, their efforts have truly been successful.

 

Darin and Megan Chittick first learned what Alpha-1 was in July 2007 when their beautiful daughter McKinley was born with jaundice. According to them, “our pediatric gastroenterologist, who had previously worked with Dr. Jeffrey Teckman, ordered a battery of tests, one of which was for Alpha-1. When we were given the results, he handed us a piece of paper with information aboutAlpha-1 and instructed us to go to the Alpha-1 Foundation website. We also contacted Alpha-1 Kids, who then led us to Cathey Horsak who ultimately guided us to contact the Medical University of South Carolina where we ordered the Alpha-1 Foundation’s Alpha-1 Coded Testing (ACT) kits for ourselves.” Testing through the ACT Study is free and completely confidential.

 

“We were always upfront with both of our families about McKinley’s diagnosis and what it means for the family,” said Darin and Megan. “However, we did not press the issue of testing, and told our family members they should make that decision on their own.”

 

A defining moment in Megan’s beliefs about family testing occurred at the Alpha-1 Association’s National Education Conference in June 2008 when she heard one of the speakers say, “you have to be smart about your genes so you can be smart about your health.” “For me, that statement really made me realize the value and importance in family testing”, stated began. After the conference, Darin and Megan talked with both of their families about testing and why it is so important. “We told them that sometimes carriers can have symptoms and it is

important to know ahead of time about your health so that you can make the most informed decisions and lifestyle choices.”

 

Darin and Megan were very surprised at the lack of opposition from both of their families and how willing almost everyone was to test. “So far, only one family member has refused to test,” they stated. “We believe our family’s willingness to test is because they trust us and know that we have done much research about Alpha-1. We also explained how wonderful it would be for McKinley to know her family tree when she grows up and to be able to give this information to her doctors to explain where Alpha-1 is in the family.”

 

“We credit the Alpha-1 Association’s Genetic Counseling Program as contributing to the success of our family testing”, according to Darin and Megan. “They knew much more about Alpha-1 than some other medical resources we tried and it was very helpful in providing additional information and reassurance to family members who may have been wary of testing. When you receive a diagnosis of Alpha-1, it is really a family diagnosis and all family members should monitor their health early and have information upfront that is important in medical and family decisions.“

 

The Alpha-1 Genetic Counseling Center promotes the understanding of Alpha-1, its genetics, inheritance & symptoms, how Alpha-1 affects the entire family and explains the importance of testing and early diagnosis for family members.