Update from our trip to UCLA!

Yesterday we made the trip to UCLA to visit Dr. Shields and Dr. Martinez in the Genetics Department. I don’t know why, but I always look forward to and enjoy these trips. Walking on campus and driving through Westwood; it just makes you feel like a young college student again (and no, I did not go to UCLA.) I also feel like the smartest minds in the world are working on my child, and that they truly want to help us. It could have been a little cooler yesterday, but overall our trip was great.

We saw Dr. Shields first and that visit was mostly uneventful. He is very happy with her seizure control and said it is “better than he ever imagined we could achieve.” He was also impressed with her developmental progress and felt it was due to the maintained seizure control along with coming off Topamax. I think I tend to agree. As I’ve mentioned, I’ve been worried that Jenelle may be showing signs of having a movement disorder. In the last 4 to 6 months (and more so since coming off Topamax) Jenelle’s movements have been out of control. She hurts herself; she injures us and is difficult to control. I brought some video clips of Jenelle’s movements for Dr. Shields to view. He is convinced that her movements are 100% behavioral, and not movements that are consistent with a specific movement disorder, nor do they look like seizures.

While it is a relief to hear that, it doesn’t help us much. Dr. Shields said that if we want to stop the movements then we need to discipline her. “Reward her good behavior” and “discipline her bad behavior” he said. I jokingly responded, “Give her more time outs?” to which he replied, “Exactly!” While it may sound like I’m joking, in all seriousness, we need to find a way “discipline” Jenelle so that she can learn to control herself. Not an easy task for anyone with a typical 3 year old child, let alone one with special needs. There are medications we could use to “drug” Jenelle and keep her from moving so much, but Dr. Shields feels they would also inhibit her development, and that is the most crucial thing at this time. Instead, he recommends we increase her Tranxene to add one pill in the mornings. The only time Jenelle is somewhat controllable is just after waking while she is still drugged from her Tranxene (valium), so we’ll add one pill during the day and see how it works. If she is too tired, we may go back down to our original dose. Our next appointment with Dr. Shields is in February.

After spending time with Dr. Shields, we met with Dr. Martinez in Genetics. He reviewed the results from our last visit last January and confirmed that everything was within normal limits, including the test for typical Rhett Syndrome. We were surprised to learn that since our last visit with Dr. Martinez, a new test for a different “gene” has been discovered to be the cause for “a-typical” Rhett syndrome. Dr. Martinez wants to re-test Jenelle for a mutation of that specific gene that was recently discovered. After mentioning our test for Rhett last time, I received many emails asking “which gene” we were testing. So for those of you who pay attention to specifics – Jenelle was previously tested for a mutation in the MECP2 gene; and her results were normal. This new test will test for mutation in the STK9 gene, and the results will take 8 weeks. Of course, we’re waiting for approval from insurance for this test, so it may be a few months before we get an answer. Amazing how science is constantly changing these days – and imagine where we’d be if they hadn’t mapped that human genome! ;) Also according to Dr. Martinez, we have ruled out some other possible genetic causes including PKU (Phenylketonuria), SCAD (short chain acyl-coa Dehydrogenase Deficiency), mitochondrial disease and Praeder Willi Syndrome.

Jenelle has been doing well with the exception of some increased seizures over the weekend due to the heat (110 degrees on Saturday!) She demonstrated a new skill this past weekend in that she put her lips around a straw. I had fluid in the straw and was putting lemonade in her mouth, and she enjoyed it. Hopefully she’ll learn to suck from a straw soon!

Thank you for the continued prayers – I’ll keep you posted!