Having a child with Dravet syndrome always comes as a burden to the family. Even if your child’s neurologist has explained the cause of the disease, meeting a geneticist might be a good way to more clearly understand it.
The geneticist will explain in details the usual mechanisms of genetics and the significance of the de novo SCN1A mutation. During this meeting, do not hesitate to ask questions regarding future pregnancies, risk factors for other members of your family, etc.
Routine SCN1A test may now be available in your country. It can take several months to get the results but this should not be a reason to postpone the initiation of a treatment.
Confirming the diagnosis with a test may prevent further unnecessary investigations. This test is usually performed from the DNA in a blood sample.