Dravet Syndrome Stories From Those Who Know

Sophia's Story

by Darren Gibson

Sophia, who has Dravet Syndrome

Sophia is 5 years old but I would like to tell yous a bit more about Sophia 's diagnosis. At 5 months old Sophia took her first seizure and because she was unwell the doctors put it down as a febrile convulsion which are quite common in childhood due to high temperature. At 6 months old Sophia took her first status seizure (a seizure lasting longer than 30minutes) we felt so helpless standing watching a team of doctors, nurses, consultants and anaesthetists working on our baby and a nurse came over, put her arm around me and said we have to prepare you that it's not looking great but we are trying. My heart sank being told our beautiful baby may not survive.

After this we were in and out of hospital numerous times, many tests, appointments and still no answers. Before Sophia turned 1 she had a blood test to test for a syndrome and after 3 months it came back positive for a mutation in her SCN1A gene.......DRAVET syndrome.

Dravet syndrome is a rare genetic form of epilepsy which is regressive and doesn't respond well to anti convulsive drugs. Currently Sophia gets 3 anti convulsive drugs and is on 58 1/2 mls daily just to try and help her. We also have to carry a rescue medication every where to try and stop a seizure. During winter months which she is currently getting she has to take an antibiotic to try and help her fight bacterial infections.
Dravet syndrome can affect walking, swallowing, speech, fine motor skills and Sophia currently attends a great special needs school that she really enjoys and has progressed through this but the syndrome and seizures have taken its toll on her development.

Sophia takes many different kind of seizures which include tonic clonic- these are the ones that most people have seen on t.v were all 4 limbs shake, myoclonic, absence, partial complex and is prone to status epilepticus. These seizures happen every day some worse than others and can happen at any time. When Sophia is excited, too hot, too cold, high temperature, tiredness or for no reason at all.

Anyone that has had the privilege to meet Sophia will know that Sophia is such a happy little child who always smiles and would make everyone else smile around her. Even though Sophia has a lot of complex needs she is such a clever little girl with a thirst for learning and exploring the world around her. Sophia is such a musician and loves musical instruments and singing. She would also give Picasso a run for his money with her beautiful artwork that she likes to paint everything we like to teach Sophia that it's not about what you can't do that it's about putting your heart into what you can do in life and trying your best. Our baby doll has certainly exceeded a lot of expectations. #ourweefighter don't forget to sign and share the petition link at the top of the page https://petition.parliament.uk/petitions/168130

Submitted 14 October 2016 (by Darren Gibson).

Recommended Links

What is Dravet Syndrome? In Shazza Language A laymen's guide to Dravet Syndrome symptoms, treatment options and more importantly what drugs should likely be avoided.

What is SMEB? In Shazza Language The sister article to What is Dravet Sydrome? In Shazza Language describing SMEB (Severe Myoclonic Epilepsy Borderline) and the differences between SMEB and SMEI / Dravet Syndrome.



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