Genetically Normal Male

>> Wednesday, December 23, 2009

We just received Bug's results. Go ahead and guess what they said. Don't read the title, that's cheating. And yet, I cried. He is genetically normal as far as we know. All the major genetic issues have been ruled out. Oh goodie. I am excited, I really am. I just need answers and so the search continues.

Dr. Rope - the new man in our lives that I am quickly beginning to think may be THE man. Our next test appears to be a 'sequence analysis of SCN1A, the gene associated with Dravet syndrome'. I am positive that this result will be negative for Dravet but let's do what we can to rule it out. Fingers crossed.

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Good nights and easy days

>> Tuesday, December 1, 2009

Bug has had two glorious nights. Not only did he NOT have any events, he slept REALLY well. Which means that, in turn, Glenn and I did too.

We took him to get his blood work for the genetic karyotype last week. He was a trooper, but then again, he always is. Hopefully we will hear back this week. If there is nothing apparent, I will ask to be referred to the NIH program that Glenn texted me about. I just can't believe that with his specific symptoms, there isn't something we can find if we look in the right places.

He has been so charming and fun the last few days too. Happy and playful, seemingly very attentive as well. As I drove him to school today, he was watching the route I was taking. He was watching the buses parked along the street, following them with his eyes and turning his head. This may seem like a small event but it's actually very big. It shows that he is interested in things outside of himself and what he is doing, that he is acknowledging things around him, coming more into the world. Do we evaluate too much? Do we project onto him? Maybe a little, but when he can't tell us what he is thinking, we have to guess and we have to be detail oriented. To look at what is different and what is consistent. When the child can say to you: I have a headache, you give him or her medication. When Bug, hides under a blanket in the middle of the day, or covers his eyes, what would any parent think? We think: He has a headache. And we give him medication.

His entire life is a guessing game. And he smiles about it.

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What a Seizure looks like (Graphic Content Included)

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Seizure Tracker.com

Seizure Tracker.com
Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on SeizureTracker.com include detail graphing capabilities and are easily sharable with caregivers.

Diamond Potential Awareness Award

Diamond Potential Awareness Award
Thank you Holly at Diamond Potential for this award. Awareness leads to understanding and acceptance. And let's face it, we all need to feel accepted for who we are. The battle has just begun!

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