The last time I wrote on my blog I said I planned to send out updates more often, and then not too long after I wrote that post, we received the phone call that I haven't even been able to right about for the past 4 months. The phone call that we had been waiting to get for over 3 months. The phone call from Titus' neurologist with the results from the genetic testing that we sent off in December. The phone call that broke our hearts and rocked our world yet again.
We received the news that Titus has a very serious and very rare seizure disorder called Dravet Syndrome. Dravet Syndrome is a part of what they call the Dravet Spectrum Disorders. Dravet Spectrum Disorders describes a group of related epilepsies having a similar genetic cause, most commonly mutations in the SCN1A gene, which encodes a sodium ion channel found in the brain. Titus is on the severe end of the Dravet Spectrum Disorders because he has full blown Dravet Syndrome. This diagnosis is based on the fact that he has a mutation on his SCN1a gene and then due to his clinical presentation (the types of seizures he has been having).
The SCN1a gene contains instructions (the genetic code) for the creation of a protein that controls how sodium ions move into the cells in our bodies. A mutation in this gene leads to faulty functioning of this protein, called a sodium ion channel, in the brain. The movement of sodium ions in and out of cells help control electrical messages in the brain so a faulty ion channel causes seizures. That's a very simplified/basic explanation, so if you are more science minded and want to know more you can click here http://dravet.org/about-dravet/genetics.
So, what does all of this mean? That's the question everyone wants to ask and yet it's the question that I can't completely answer even after researching for hours and hours. Even though we know that Titus has a mutation on his SCN1a gene and that he has Dravet Syndrome, no two kids diagnosed with Dravet are exactly alike in the symptoms they exhibit, the medicine they respond to (or don't respond to), or the long-term outcomes they will experience.
Here is what dravet.org says about Dravet Syndrome (SMEI):
"Dr. Charlotte Dravet first described Dravet syndrome in 1978 as Severe Myoclonic Epilepsy of Infancy (SMEI). Dravet syndrome is at the most severe end of the Dravet Spectrum Disorders. The key features of Dravet syndrome are febrile seizures and status epileptics.