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Dravet Syndrome: A Case Study

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The effects of a rare genetic disorder such as Dravet syndrome can greatly affect the way that a family functions as well as the conditions in which the family lives. Families handle the care of their child At the age of 3 months old, Charlotte Figi had suffered a seizure that was the first of many, her parents were instantly concerned because of the duration and intensity of the seizure’s that their infant was suffering from. Charlotte would suffer from an average of three-hundred grand-mal seizures a week which doesn’t include the numerous minor seizures that she would have everyday in between those more invasive seizures. She was hospitalized and went under numerous invasive procedures in order to confirm a diagnosis, the doctors found …show more content…

During the ongoing battle of diagnosing Charlotte, she would have seizures that would last two to four hours at a time that would, at times, cause her heart to stop. The doctors that were treating Charlotte suggested to the family to allow them to try “putting Charlotte in a medically-induced coma to give her small-battered body a rest” (Young, CNN). At the peak of Charlotte’s Dravet syndrome, she was on seven medications, “some of them heavy-duty, addictive ones such as barbiturates and benzodiazepines,” which includes phenobarbital (Young, CNN). The invasive medications that Charlotte was prescribed by neurologists as well as epileptologists were causing her to cognitively decline; Charlotte’s mother explained to CNN that “Charlotte had lost the ability to walk, talk, and eat” (Young, CNN.com). The severity of Charlotte’s Dravet syndrome became so lethal that her parents could not watch her go through this ongoing pain so they agreed to put a do-not-resuscitate order into her file. For years, Charlotte’s mother had voted against the legalization of medical marijuana until she had discovered a story of a young boy with the same condition as Charlotte who had improved …show more content…

Most families of children with Dravet syndrome do not learn that their child has a genetic mutation because of the high frequency of misdiagnoses; this is caused by seemingly normal EEG and MRI test results (Epilepsy Foundation). Dravet syndrome is possibly the most complex form of Epilepsy to which Dr. Scott Perry said, “if you can figure out the genetic cause of one and figure out how to fix it, there’s a decent chance we might apply the same thoughts to other things and figure out how to cure other epilepsies” (Perry, Scott checkupnewsroom.com). The long months of waiting and praying for test results to show of positive signs are difficult as well as torcherous in my personal experience, but what is worse is believing that your child will be okay but your mind knows that he or she is not, then to have a medical specialist confirm what you know is true is horrendous. One of the most unforgiving characteristics of Dravet Syndrome is that there are many secondary diagnoses which include Autism, ADHD, coordination disorders, nutrition and growth concerns, immunity problems, and sleeping issues (Dravet Family Guide). Most children are diagnosed with the secondary diagnoses of Autism and ADHD as

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