“Why should we get the test?”
Cassie’s mother was not convinced that we should test her daughter for genetic mutations that could cause epilepsy. In class at school, Cassie (whose name I’ve changed for privacy) had a generalized tonic-clonic seizure that lasted for 20 minutes. The next week, she started to have smaller seizures several times a day.
I am a pediatric neurologist, and every year we see more than 1,500 children with new epilepsy in our clinics and in our hospital. For Cassie, the important steps to understand and treat her epilepsy were to order an electroencephalogram – or an EEG; to get a brain MRI scan and to test for genetic mutations. We started Cassie on lamotrigine, a very effective and safe anti-seizure medicine.
These decisions about how to take care of Cassie result from cumulative learning and the passing on of information from one generation to the next. Sometimes the chain of knowledge gets lost.
Our current knowledge about epilepsy diagnosis and care; and the field of medicine in general; are guided by the scientific method, one of the great triumphs of the Enlightenment, an 18th century intellectual movement that emphasized reason over superstition. The scientific method holds that we can learn facts and make hypotheses about ourselves and our world; and critically, that the hypotheses are testable.
Our newest tool for epilepsy is genetic testing. Several months after her first seizure, we did genetic testing for Cassie and found that she had a mutation in the SCN1A gene. The SCN1A gene works in the neurons of the brain to maintain a normal electrical balance. It turns out that lamotrigine is not a good choice for people who have SCN1A mutations and can worsen seizures over time. We stopped the lamotrigine and started a different medicine (clobazam). The genetic testing was critical for Cassie’s treatment.
This power to understand and treat diseases like epilepsy is a triumph of our biomedical enterprise; which is an accomplishment of our society, guided by the values of the Enlightenment.
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