A Myrtle Beach mother who lost her son more than 10 years ago after he died from a seizure is now suing the company she believes misclassified the boy's genetic condition.
Amy Williams thought for years that her son, Christian Millare, suffered from a mitrochondrial disorder. Only after his death did she discover a gene mutation that causes Dravet syndrome was responsible for his death.
Also known as Severe Myoclonic Epilepsy of Infancy, Dravet syndrome is considered a "genetic dysfunction of the brain," according to the Epilepsy Foundation.
Williams has filed a lawsuit against Quest Diagnostics, a national genetic testing lab, for its alleged failure to correctly classify Christian's mutation when his DNA was first examined. She argues in her complaint that the error prompted Christian's doctors to recommend a counter-productive course of treatment.
John Moylan, a Columbia attorney representing Quest Diagnostics, told The Post and Courier last month that genetic testing technology wasn't advanced enough at the time to recognize Christian's gene mutation was harmful.
The company originally categorized it as a “variant of unknown significance.”
Williams contends the company wasn't up-to-date with medical literature and therefore failed to classify this particular mutation. Then, she said, Quest Diagnostics updated Christian's records to reclassify his mutation as "pathogenic," but never told her or Christian's doctors about the change. She has argued that the lab violated its own guidelines.
Moylan said this week that Quest Diagnostics strongly disputes Williams' allegations.
Quest Diagnostics has asked a federal judge to dismiss the lawsuit. The S.C. Supreme Court recently answered a question related to the case, concluding Quest should be considered a "health care provider" and could be held liable under the state's medical malpractice laws.
That answer posed a problem for Williams' case because the legal window to file a malpractice lawsuit has already passed. The case may still proceed pending the federal judge's decision.
Williams is hopeful it will. She wants to establish an endowed scholarship for genetic counselors and to share her son's story.
"Christian would have been 13 years old next week," Williams said. "This is about change. This is about lobbying for accountability."
Quest Diagnostics is headquartered in Madison, N.J.