I was going to send this update last Friday, but forgot! Here is a quick update on our girl. Jenelle is doing well these days and still amazing us with her progress. She is "fully" sitting up now in the "normal" fashion (not side sitting like before) but she only lasts a few seconds in this position so its been difficult to get a photo. She is also doing better with crawling and overall is very happy.
We had a set back last week. As you know we are weaning Jenelle off of Topamax. Originally she was taking 125 mg a day, and has been taking this drug since January of 2004. I would like to get her off Topamax to see if it would help her development. Also, we think it has been causing her acidosis, so we decided this was the first drug we'd try to wean. Jenelle had been doing well with the wean until last Monday when we reached 25 mg a day. By the evening, I really noticed Jenelle having more seizures than normal (9 just that night at home!) She was lethargic and seemed to be really affected by the sudden increase in seizures. A couple of the seizures were head drops and atonic jerks (where her whole body jerks quickly then goes limp.) We honestly haven't seen seizures like that for about 9 months. The next day I asked her daycare provider if she had noticed any seizures, and she reported that on Monday Jenelle had at least 12, so my suspicion that she was having more than normal was confirmed.
Being that I am now an expert on weaning seizure drugs (ha!) and because Brett and I have plans to go away for a weekend without kids for the first time since before Jenelle's seizure diagnosis, I decided it was best to increase the Topamax back to 50mg a day - a dose where Jenelle's seizures are under control. By Wednesday, Jenelle was back to normal and we haven't seen the seizures we were seeing Monday, and she is happy again. I'm such a Neurologist! ;)
It is sad to me because I was hoping that maybe these seizures had gone away, or that maybe Jenelle had grown out of them or something. But sadly, without her medication, our girl would still be seizing. Once we get back from our weekend away, I'll try to decrease the Topamax again. If she can't handle it, then I'll make a call to the real experts at UCLA to see what they want us to do. If anything, it’s a good feeling to know that she is stable with less than half of the drug she was taking!
That is all for now. I am still waiting for the final word on that last genetic test for Rett. As always thank you for your thoughts and prayers - I'll keep you posted!