Last Friday, I received a call from Dr. Chang, Jenelle's metabolic doctor at CHOC. If you recall, when we last met with UCLA Genetics, the metabolic doctor there wanted to speak to Dr. Chang about some tests for Jenelle. I sent an e-mail to Dr. Chang after our visit to UCLA in September, and called to remind him last week that I hadn't heard from him and that we had an appointment later this month. So it took a while, but we finally connected!
Both Dr. Chang and Dr. Cederbaum at UCLA would like to test Jenelle for Neurotransmitter Disease. This would involve a spinal tap. Normally, a spinal tap is done as an outpatient procedure, but we're talking about Jenelle who is very wiggly giggly. She will need to be sedated for the procedure, and Dr. Chang would prefer to have her stay overnight in the PICU for this test. I told him it was better to be in the PICU as a precaution, as opposed to actually needing to be there. He will submit an authorization request to our insurance, and we should have a date for the procedure once it is authorized. Admission may also depend on bed availability, so it may be a while.
Neurotransmitter disease is an umbrella term for genetic disorders that affect the synthesis, metabolism and catabolism of neurotransmitters in children. These inborn errors of metabolism affect the central nervous system in children and if left untreated can lead to severely compromised neurological function. The symptoms of some pediatric neurotransmitter diseases can be completely treated whereas in other pediatric neurotransmitter diseases treatment can sometimes improve quality of life. Now, the last part where it says "some can be treated" is exciting to hear, but we realize the chance of Jenelle having a treatable form of Neurotransmitter Disease is probably very slim (if she even has it at all), and we don't want to create any false hope. This is one thing that has never been tested on Jenelle, so it is a logical next step.
Jenelle is doing really well and has been standing by herself for up to 5 seconds, and making efforts to take steps on her own. In fact, sometimes when I go to lift her, I hold out my hand and Jenelle reaches for it in turn, then pulls herself to a stand! Finally, some help to save my poor back!
Thank you for the continued prayers and positive thoughts! I'll keep you posted!