When Elen came into the world, at first glance she was a healthy baby. However, in her fifth month, she suffered a long epileptic seizure lasting more than 40 minutes. After several more seizures and hospitalisations, genetic tests revealed that she suffered from a rare and severe form of genetic epilepsy - Dravet syndrome, also called Severe Myoclonic Epilepsy of Infancy (SMEI). Although the disease is genetic, she did not inherit it from either parent; it was just a "gene error" early in pregnancy. Dravet syndrome is also accompanied by many other associated diagnoses, such as delayed psychomotor development, hypotonia, attention deficit disorder, unsteady gait, etc. Although Elen looks like a healthy four-year-old girl, she has many limitations in her life. For instance, she has to follow a strict and regular regime, she has to be constantly under control, she cannot stay with the children in the playground, she cannot have too much fun and she cannot go outside in summer when it is hot outside. All this can lead to an epileptic seizure with unconsciousness, which can further delay her development.
Unfortunately, despite all precautions and four different anti-epileptic drugs, Elen has a large epileptic seizure (Grand Mal) every week. She also may have seizures during sleep, so that is why we are glad we are now using NightWatch.
All these conditions affect the life of our whole family, who have to adapt our lives to Elen's needs. Elen cannot attend kindergarten because she tires easily and often sleeps during the day. Despite all the complications, Elen is a very bright and clever four-year-old girl who energises the whole family with her enormous strength. As her parents, we are happy that she has shown us a new path.
Author's note: according to the ILAE, West syndrome has been recognized as a childhood epileptic syndrome since its first appearance (1841) (ICD-10 classification: G40. 4, other generalized epilepsy and epileptic syndromes) and is considered a paradigm of an epileptic syndrome leading to neurological deterioration (epileptic encephalopathy) and has been the subject of numerous studies aimed at understanding the complex relationships between an epileptic disorder and neurodevelopment. BNS refers to "flash seizures, nodding seizures, and salaam seizures."
About Thomas Porschen
Thomas Porschen has been the contact person of the German Epilepsy Association for the International Bureau for Epilepsy (IBE). The international umbrella organization of self-help and lay organizations for epilepsy and Vice-Chair of the European Regional Executive Committee (EREC) of the IBE as well as the contact person of the German Epilepsy Association for questions regarding sudden death from epilepsy (SUDEP) since 2021. Since 2022 he is a stopSUDEP ambassador for the Oskar Killinger Foundation. As of December 2022, he is also a NightWatch Ambassador for Germany. He likewise leads a regional epilepsy support group (currently digital meetings) and is also involved nationally with the Hesse state association, among others. Direct email contact to Thomas: firstname.lastname@example.org
Dear Thomas, thank you very much for your much-appreciated story and effort!
Story by Birgit-Elisabeth Langen