Thursday, November 11, 2010

Negative....

The results are in.... she tested negative for the gene mutation....

I am still not sure how I feel about it.  I was hopeful, REALLY hopeful, to finally have a name...

So, according to Dr. Neuro, she will not have the diagnosis (meaning, he is not going to clinically diagnose her with Dravet Syndrome), but he is going to medically treat her like she has it....   hmmm....  not sure I totally get that. 
We are going to continue to increase her Depakote to try and maximum effect from it.  And, she is now taking it 3 times a day. We may be increasing her Klonopin at night as well... 

The good news is.... we have seen (in the last 4 days) a huge decrease in seizures!!!  She had a big whopper of a seizure last night, but before that, she hadn't wet herself in 3 days!!!!  So I am hopeful this much loved freedom, will last.  Chances are, because of knowing her past, it is honeymoon period from raising her meds.   But, even if it is, I WILL TAKE IT!!!!
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1 comment:

Danielle said...

Sigh...

the hunt continues. I'm sorry, hon. Not that she doesn't have Dravets...but that you have to stay in the guessing game.

xoxo

...d

November 13, 2010 at 3:50 PM

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Beautiful Hannah...

How this journey started....

Hannah was born prematurely at 34 weeks gestation. She was a relatively healthy preemie; initially having difficulty maintaining body temperature and needing to grow. She weighed 4 pounds 9 ounces at birth. When she was four months old she began to drool, non stop. We were told the first year she was "teething." At 18 months old, we really started searching for reasons of why her shirt was always soaking wet. We saw various specialists who always sent us to another specialist, saying "everything looks okay." She spent years in oral motor/feeding therapy to help her not to drool. It wasn't until she was four years old and in preschool that we started to get some answers. Her preschool teacher commented one day that she wasn't reponding when her name was called. I took this information to her pediatrician who then orderd an EEG, "just to rule it out." Much to our shock and amazement, the results showed, she was having seizures. That is the day our journey REALLY began. Once she began taking seizure medication the drooling almost stopped completely. (She will still drool to this day when she is having seizure activity). Since then, it has been a roller coaster; countless medications and medication changes. She has never really reponded well to any medication.

About two years after she was diagnosed with epilepsy, the doctors noticed that her blood pressure was running high. After many tests, she was diagnosed with hypertension. We still are not sure why, but her cardiologist feels her blood vessels are thicker than normal.

About this same time, we also began looking into why Hannah was such a horrible sleeper. She would thrash, talk, move every which way, during her sleep. The sleep studies revealed that she has alveolar hypoventilation sydrome, which means she has too much carbon dioxide in her system when she sleeps. To help this, she wears a BI-PAP at night. This has been monumental in giving her more effective and quality of sleep.

Every day is a challenge for Hannah and our family as a whole. Blitzen has been an absolutely wonderful addition. She calms herself sometimes just by petting and loving on him. He has been trained in behavior disruptions and will sometimes be able to stop a meltdown from getting out of control.
It has been extra hard on the whole family since daddy is deployed to Iraq. He has been gone since January 09 and will gone until Jan 2010. We get to talk with him by phone and on the web cam; which is nice, but not the same!! Blitzen has helped to make his absence go just a little smoother....