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Diagnoses: An Update

2 October, 2012

We’ve had a few exciting developments in our house over the last few months, that I haven’t really shared with the blog yet.

The first is our diagnosis of Dravet’s Syndrome.  A few weeks ago we received the long-awaited results to the test for the SCN1A gene mutation that most people with the diagnosis of Dravet’s Syndrome have.  Josiah has tested negative to the gene mutation.  He still has epilepsy, that diagnosis doesn’t change at this point.  However, because he doesn’t DEFINITELY have Dravet’s Syndrome  and because his seizures are well controlled, we have now been told that there is a chance (approximately 50% according to his neurologist) that he may grow out of his seizures.  If this were to happen or be decided that he has outgrown them, it will be a LONG way down the track as he needs to be completely seizure free for a few years, whilst on medication, before any investigation is done as to whether he has potentially grown out of the seizures.  We still have a long road ahead of us but the prognosis is looking better.
Also, one of our children had been given the diagnosis of ADHD.  This diagnosis has now been reversed in favour of simply personality combined with behaviours associated with ongoing anxiety.  The progress this child has made this year with occupational therapy and us, as parents, understanding the behaviour better and therefore responding in a more helpful way, has made a huge difference and I think that without these changes we may still have this diagnosis.

We still have behavioural challenges in this house and the treatment and learning will be ongoing but the “labels” we are facing are smaller and more easily managable.

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