Dravet Syndrome Stories From Those Who Know

Sean Sean's Story

Sean was born in July 2004 when I was just 16. On the 22nd oh July 2005 and within 24hours of having a routine 12 month old vaccination, Sean had his first of many febrile convulsions. In the next month, Sean was admitted into hospital a further 3 times, each for low-grade temperature febrile convulsions. It was at this time he was put on Phenobarbitone. In the next few months, Sean regressed with what skills he had. He no longer spoke, wasn't as happy within himself and his behaviour went from angelic to devilish. In the next 10 or so months, Sean had hundreds of febrile convulsions requiring numerous hospitalisations.

He had two EEG's both of which came back normal. Just before his second birthday, he was put on Epilim. Not long after, he had bilateral grommets inserted. He then went 9 months seizure free, the longest ever gone since his seizures had begun. At the end of 2007, making Sean a few months over three, he started having afebrile generalised tonic clonic seizures. In March 2008, he had ten tonic clonics - I thought that was bad. With each passing month, his seizure activity increased. In May, he began having drop attacks and had his first instance of Non Convulsive Status, where he could not walk, talk, eat or drink or hold his head up unaided. It was during a hospitalisation for this case of NCS that Sean had his first abnormal EEG.

His neurologist began to suspect Doose Syndrome (Myoclonic-Astatic Epilepsy). In June 2008, Sean had his worst month to date with over 100 Tonic Clonics and an uncountable amount of drop attacks. In July 2008, after trialling Phenobarbitone, Epilim, Tegretol, Topamax and the dreadful Lamictal and Phenytoin, Sean commenced IV Infusions of steroids - 500mg a month. In that month alone his tonic clonics dropped to 54 and cut in half again the month after. Now Sean has approximately 30-40 Tonic Clonics per month. By this stage he also began experiencing horrible myoclonic clusters, leaving him unable to hold his head still or be able to drink from a cup. Then came the absences, followed by tonics and atypical absences. In September 2008, Sean also began on daily steroids at a dose of 20mg.

His seizures kept continuing well into the 100's each day. It was around this time, I began to suspect Dravet Syndrome. His seizure activity, the regression and delayments plus his seizures being hard to treat struck a cord with me. In March 2009, Sean was admitted for a 48 hour EEG. It showed that once again, Sean was in NCS. I felt horrible, because he had been that way for months, I thought it was just him regressing and something that was now normal for him. I told his neurologist that I didn't believe Sean had Doose Syndrome and that it was infact Dravet. He agreed. We are still waiting for the SCN1A gene mutation analysis, but have been given a clinical diagnosis of SMEI.

Sean now attends a special needs school. His gross motor skills have improved dramatically, especially on his good days. He is still quite developmentally delayed, with his speech assessed at a global rate at that of a 19 month old, his behaviour is improving slowly, as are his fine motor skills. He still has daily seizures and goes into NCS at least once a month, often once a fortnight. I wish Sean didn't have epilepsy, but I cannot change that. All I can do is hold his little hand and help him on his journey. I think of myself lucky in ways that, I have met some wonderful people because of his epilepsy.

I get to notice all the different colours of his eyes when he has an absence. I can count all the freckles that sprinkle his face when he is post ictal and everytime a new one appears I know that is recently accquired. It is music to my ears when he says three little words - I la you (I love you) and I don't take them for granted. I am now 21 and he has recently turned 5. He is my little Peter Pan, my absolute hero and I love him with all of my heart and soul.

14th July 2009. Submitted by Tara Jeffery .