According to a story from rekordmoot.co.za, the du Plessis family of Moot, South Africa couldn’t believe it when two year old Barry du Plessis was diagnosed with Dravet syndrome, a rare epileptic disorder. As far as the family knows, Barry is just one of three kids in the country that are currently known to have it. Barry’s symptoms suddenly began to appear when he was around 21 months old; before then, he appeared to be developing normally.
Dravet syndrome is a form of severe epilepsy that usually begins by the sixth month of life. The disease is most characterized by frequent seizures that are sometimes triggered by fever or hot temperatures. In most cases, the syndrome is caused by mutations of the SCN1A gene. Most of the time, these mutations are not heritable and appear spontaneously. The predominant symptom of Dravet syndrome is seizures; varying types of seizures often occur as the disorder progresses, as well as ataxia, developmental delays, behavioral disorders that may resemble autism, and cognitive impairment. Seizures can be potentially lethal. Management strategies for Dravet syndrome may include a ketogenic diet, anticonvulsant medications, cognitive rehabilitation therapy, and cannabidiol. This rare disorder is estimated to appear anywhere from 1 in every 20,000 to 1 in every 40,000 births. To learn more about Dravet syndrome, click here.
The diagnostic process was difficult and expensive as there were no facilities in South Africa with the proper equipment to conduct the needed tests; blood samples had to be shipped all the way to the UK. The family is asking for donations to help with the financial burden they face; they also want Barry’s younger sister to be tested for Dravet syndrome also.
Barry hasn’t been going to school since his diagnosis for fear of seizures and is currently under the care of Eloma, his grandmother. Laverne, Barry’s mother, said that Barry will need treatment soon to stave off progression of the disease. However, the characteristics of the illness are not the same for everyone, and the child’s future remains uncertain.