Deborah and Chris Heine did everything they could to ensure that their second child would be born as healthy as their first.
In addition to living a wholesome lifestyle, the California couple even got tested for genetic diseases like cystic fibrosis and Tay-Sachs disease before they conceived. In January 2004, the Heines joyfully welcomed Claire, a beautiful baby girl, into their lives.
Their joy was short-lived. When Claire was just nine weeks old, the couple received the heartbreaking news that their daughter had spinal muscular atrophy (SMA). Babies, like Claire, who have the most common form of SMA usually die from respiratory failure before they reach the age of two. Claire died when she was just nine months old.
What makes the Heines' experience especially tragic is that it might have been avoided. For years, there has been a blood test that will tell couples who are planning a pregnancy or are expecting whether they carry a genetic abnormality, or mutation, that causes SMA.
"Had we known how common this disease is, and that there was a test to screen for people who carry it, we certainly would have requested it," says Deborah Heine, a strong advocate of SMA carrier testing.
To read the Heines' story and learn about SMA carrier testing, click here.
Athena Diagnostics thanks Deborah Heine, Executive Director of the Claire Altman Heine Foundation, for permission to post her personal story.
News & Events