Just wanted to let you all know we got some news from Luella's doctor at Mayo on Monday evening. All of the outstanding genetics tests have come back and we found out that Luella has Dravet Syndrome. This is not exactly good news and I'm having a hard time with it. Dravet involves a SCN1A gene mutation and it is a spectrum disorder - meaning that there are very mild cases and very severe cases and many in-between. We don't know yet where Luella will end up on this spectrum. We do know it's not the mildest of cases and probably not the most severe (we hope).
One of the hardest parts of all of this is now knowing that Luella will not simply outgrow her seizures. My hopes of having a "normal" life again are fading. Kids with Dravet usually have their first seizure before age one - usually because of a fever or illness (illness in Luella's case) and the seizures tend to get worse as time goes on. There is a whole list of secondary conditions that Dravet kids tend to have also and Luella has several - problems with automatic body functions such as temperature regulation, frequent UTIs, sleep disturbances, slow tooth eruption, and grinding teeth. Dravet kids sometimes see a regression of development after age 2 or 3 and some kids are just fine. I need to not think about the worse case scenario but we have a lot of questions as to what the future now holds for our little Luella.
www.Dravet.org has some great information but it also has lots of sad things to read. Last night I was up late reading things I probably shouldn't have and then had a awful time sleeping. Luella didn't sleep well - she was constantly tossing and turning and I was watching it all on her video monitor, scared that she was going to have a seizure or something. Luella has been twitching A LOT in her sleep and it has gotten worse. We just returned from a weekend trip to the Black Hills and Luella slept with me several of the mornings when she woke early and I felt every single one of those twitches! She will be doing a 24hr EEG at Mayo in August so they can see what she is doing and find out what is happening.
As far as the Ketogenic Diet goes - we will probably hold off starting that for now. We want to see what Luella's new "normal" is before starting and then we have questions as to how much the diet can help her now with the Dravet diagnosis.
My last email was so positive about going two weeks without a seizure, now I feel like everything is upside down. On our way home on Sunday night Luella did have another seizure - so we made it 2 1/2 weeks, which is still good news - the Depakote seems to be helping. The seizure on Sunday was probably due to the heat.
I'm sorry I won't be able to talk about all of this for awhile. I'm having a really hard time with it - can't really say "Dravet" with out breaking down. So if you see me please don't ask me any more details for now. Hopefully I'll be able to talk more later. I know that I just need to trust in the Lord and know that He will do what is best for Luella - but it is hard. I love my baby girl so much!! Please pray for all of us.