Name: Isaac Washbourne

Sex: male

Date of birth: 02/08/2004

Now lives in: Sydney, Australia

Epilepsy info

Dravet’s Syndrome, SCN1A test (SMEI) 07/2006

type(s) of seizures:
Tonic Clonic, Myoclonic, Absence Seizure & Atonic ?

frequency of seizures:
Started with TC every 8-10 Days with 17 ½ wks the Record, now 3wks and counting, Absence Seizures Daily, Myoclonic & Atonic not sure?

Medications used

Topamax (Topiramate) & Epilim (Sodium Valproate)

Tegretol (Carbamazepine)

Alternative Treatments

Personal Notes

Blessed with two wonderful children Isabella (17/03/2003) and Isaac (02/08/2004). Isaac gave us a fright at birth not breathing and needing some assistance to get started but was soon ok and made us very happy parents for the second time. Had some minor problems with reflux and an umbilical hernia but no other problems to speak of. Then when he was 9 ½ months old (25/05/2005) he had a seizure whilst having a bath with his sister (lasting 15-20 min) with no family history and no obvious cause. It was treated as a febrile convulsion and hopefully would not re-occur. Three weeks later he had another (lasting 20-25 min) having a bath with his sister again not good news. This led to a diagnosis of epilepsy and Isaac was put on Tegretol to treat his condition. However he started having very long tonic-clonic seizures every week and now started to have clusters of seizures (not sure what was worse the seizures or having the doctors try up to 20 or more times in a sitting to get a canular/drip into him). Things seamed to go from bad to worse and no one could give us an explanation as to why it was happening (very frustrating). We or should I say Isaac had to have test after test and everything came back perfectly normal (MRI, EEG’s, Blood & Urine Tests, lumbar punch/spinal tap) nothing could explain why he was having seizures or why they were happening so often and lasting so long. Then we were referred to see a paediatric neurologist who with our paediatrician suspected SMEI and changed Isaacs medication from tegretol to epilim and later topamax with epilim this was after trying a few other different types of medication like Vitamin B12 (pyridoxine deficiency). We sent blood to Italy (November 2005) to be tested for SCN1A gene (SMEI) and have managed to decrease frequency of the tonic-clonic seizures and have set a record of 17 ½ weeks with absence seizures almost daily. We just received Isaacs’s blood results back from Italy and it was positive for SCN1A (SMEI). Now we are not sure what to expect for the future as we were hoping the test was only going to confirm that he didn’t have SMEI. This has come as a huge shock as he seemed to be doing so well and now we just need to find out more about his condition and love him every day as normal.
Ps his current development has been assessed as being approx 3-4 months behind and we have starting physical and mental development therapy with an occupational therapist to assist with his development.

Contact, Gary & Ricki Washbourne

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