Yesterday, we had a full and very busy day with Jenelle. In the morning, we had an appointment to get her new AFOs! What normally takes a few minutes of trying them on, ended up taking two hours to make all sorts of size adjustments. Once they finally fit, Jenelle stood up and was able to take a few steps down the hall - with my help of course! The new AFOs are cute and are blue with butterflies! To show you how much she's grown, take a look at the photos below of Jenelle's AFOs, since her first pair back in 2003.
As soon as we finished with the AFOs, we made our semi-annual trip to UCLA to see Dr. Shields. As always, he was pleased to see us and was very pleased with Jenelle's progress. We told him about her "attitude" lately and he watched some of the video clips of her crying episodes. Dr. Shields agreed that it could be the Tranxene wean. He did not feel she was in withdrawal, because the behavior would be getting better at this point. But, he feels it is apparent that Jenelle needs something to help with behavior and he thinks Tranxene may be her "Happy Drug". So, last night we started a low dose of Tranxene again to see if it would help her attitude and the crying spells. We can raise the dose in a week or so if the crying spells do not subside, but we are to call him in three weeks if she is not completely better. At this point, the Tranxene is not being used for seizures but rather as an anti-psychotic. If it doesn't work, there is another drug we can try.
After our time with Dr. Shields, we had a meeting with UCLA Genetics to follow up on the results of the test for Rhett Syndrome. This time we met with Dr. Cederbaum, a doctor we have not yet met. As I suspected, the Genetics Team basically informed us that they were out of ideas. We discussed some of the tests mentioned by our metabolic specialist Dr. Chang, and they agreed our next test should be the spinal tap to test for neurotransmitter disease. Apparently, Dr. Cederbaum and Dr. Chang meet once a month with other area metabolic doctors to discuss recent trends and cases. So, with our permission they will discuss various tests for Jenelle at their meeting next week. Once they agree on the next test, then we will be waiting for insurance authorization. It is a long, tedious process for sure. Genetics did have some good news for us in that they are very confident that the issues with Jenelle are not genetic in nature. This means the likely hood of her issues being genetically passed onto any future children or to Jack's children is practically nil (3% at most.) So for now, we do not need to meet with genetics again unless the spinal tap gives us new information about possible neurotransmitter disease.
That is all for now! Thank you for the continued thoughts and prayers - I'll keep you posted!