We made the trip again to UCLA on Thursday to have a follow up appointment with Dr. Shields. Our appointments with him are always so enjoyable because he has such a wonderful sense of humor. He said that Jenelle looked the best he'd ever seen her and he was very happy with her recent progress. Her Thyroid test results were back, and of course one level was "slightly abnormal" but not abnormal enough to point to anything specific… this is the story of her life! We all laughed it off and said we didn't expect it to be anything other than that! Her bi-carb level is still low, so we will be increasing her bi-carb supplement due to her recent weight gain. Remember, a bi-carb measures the amount of carbon in your blood; your body needs just the right balance as too many carbons make you lethargic.
We've decided to take a chance and start altering some of Jenelle's medications to see if she can improve even more. At first we are going to increase her Tranxene at night to help her sleep and to get to a therapeutic level, then we will start to wean Topamax. I was concerned that Topamax might be the reason for Jenelle's awkward coordination and Dr. Shields said it can also have some cognitive side effects. Topomax is also the reason for her acidosis (bi-carb problems) so it would be good to get her off it completely. The problem is that we do feel it has been effective on some of her seizures, so weaning it completely is a big risk. We'll take it slow, and at least we know we can go back to what works if her seizures get out of control!
I asked Dr. Shields what would change if Jenelle tests positive for Rett Syndrome (I spelled it incorrectly in my last update, it does not have an "h" in Rett.) He said that Jenelle would still be considered to have a diagnosis of Lennox Gastaut Syndrome, however if the test for Rett is positive, then Retts will be the "underlying cause" of her Lennox Gastaut. Dr. Shields says that he highly doubts Jenelle is a Rett Syndrome baby, but she has been known to surprise us and it would explain a lot. We will see him again in 6 months!
Thanks for the continued prayers - I'll keep you posted!