Amy Williams believes her son didn’t have to die from a rare genetic condition. Now, she’s suing one of the world’s largest laboratories.
Amy Williams is a 31-year-old living in Myrtle Beach, South Carolina. In August 2005, she gave birth to a healthy baby boy, Christian Millare.
But Christian didn't live long. He died in January 2008 at age 2 of a fatal seizure, after suffering from them for most of his life.
Now, his mother believes his death could have been prevented if not for what she calls an erroneous DNA test result by one of the world’s largest laboratories — which she’s suing.
The lawsuit was filed in February, and of last week is pending in U.S. District Court in South Carolina.
The year before he died, Christian took a DNA test made by Athena Diagnostics (now owned by Quest Diagnostics), according to the complaint.
Doctors were wondering if Christian had Dravet syndrome, a rare disorder usually caused by mutations in a gene called SCN1A, according to the lawsuit.
The test result said Christian had a “variant of unknown significance” on that gene. By Athena’s definition, such variants can affect normal gene activity but “often have no effect.”
So doctors thought Christian might have had a mitochondrial disorder, a type of disease that's partly or fully inherited from the mother, according to Williams' lawsuit.
They kept giving him sodium channel-blocking medications, which help with non-Dravet seizures — but have been found to worsen Dravet in people who have it.
Although Christian’s doctors saw the 2007 lab report, Williams says she didn’t at the time. For years, she thought that she had given a mitochondrial disease to her son.
“I didn’t think I had a right to grieve for Christian — it was my fault he died,” she told BuzzFeed News.
Then in late 2014 and early 2015, with the help of a friend knowledgeable about biology, Williams got a copy of the 2007 report, as well as a copy of a new, revised version. The 2015 report officially stated that he had a mutation that could cause disease, which is a more urgent classification than a « variant of unknown significance, » according to the complaint.