Just a short update

Here is a photo of Jenelle on Thanksgiving with her Daddy and Godmother Shelly in the background. She had a wonderful day and enjoyed playing with her cousins and getting in the middle of things. I love this photo because her hair looks perfect - Normally it is a messy mop! Lately she really likes for me to dry her hair with the hair dryer (with the attached diffuser for the curls.) She hangs onto the sink and watches in the mirror.

Last Friday we went to the family cabin in Lake Arrowhead, and by Saturday it seemed the altitude brought on more seizures than normal for Jenelle. She also had a difficult time falling asleep so the weekend was rough for her. The weather was cold and both she and Jack have red cheeks.

Tomorrow is Jenelle's IEP at school. I'm not worried about a thing and am rather excited to hear all the good reports I am expecting from her teachers and therapists. I hope we can increase some time for speech therapy, or maybe incorporate assisted technology like switchboards. Over the weekend, whenever Jenelle was hungry, she would crawl to her highchair and wait. While in Lake Arrowhead, we went to church on Sunday. As we opened the door to go outside, Jenelle made for the door and was so quick, she almost got out the door on her own!

We're still waiting on the Neurotransmitter authorization. I spoke with Dr. Chang's office, and we should be hearing from them soon. Today was supposed to be a follow up appointment and they have rescheduled us for January 2. I guess that means we'll get the LP done sometime before the end of the year!

We hope your Thanksgiving was wonderful.

Test for Neurotransmitter Disease

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!

Super Girl Standing!

This is a photo Jenelle's teacher took of Jenelle standing during the class Halloween party.

Isn't she amazing?

And please ignore the little boy in the background picking his nose. ;)

November is National Epilepsy Awareness Month!

November is National Epilepsy Awareness Month. The color for Epilepsy Awareness Month is purple.

The last two years in honor of this month, I've shared with you our experience with Epilepsy while also providing the basic facts about epilepsy and seizure first aid. Feel free to re-read those posts here and here. This year, I want to literally show you what Jenelle's seizures look like. Below you will find a series of older videos I uploaded to You Tube so you can literally see what we are fighting.

Video #1 - Grand Mal:

This video shows Jenelle's Grand Mal. Jenelle hasn't had many Grand Mals in her life, maybe 10 at the most. When she was 18 months old she was tested at UCLA to see if she was a brain surgery candidate. During the testing, we were lucky to capture her Grand Mal on video. This clip is a video of the actually VHS tape from UCLA, which is poor quality. This is only 2 1/2 minutes into the seizure that went 10 minutes requiring oxygen. It starts as a Grand Mal, then moves into an Absence Seizure about 40 seconds into the seizure. The "screaming" you hear from Jenelle during the seizure is involuntary - she was never in any pain. I will caution you, the first few seconds are graphic.



Video #2 - Absence Seizure:

This is a short video clip of Jenelle's Absence Seizure. Jenelle was approximately 3 years old in this video. The typical presentation of an Absence Seizure is that the patient appears to be dazed and confused. Sometimes you can see twitches here and there and sometimes patients pick at their clothes, grind their teeth, or smack their lips during an Absence Seizure. This is one of many seizures Jenelle had that evening during a very bad "cluster." Jenelle suffers from "Cluster" seizures where her seizures come on one after another without much relief or down time. If clusters are not controlled, they can eventually lead to Status Epilepticus, or constant seizure state.



Video #3 - Absence Seizure with Hand Twitch:

This video is of another seizure taken the same night as the above video clip. This was later into the cluster. As you can see, Jenelle is completely out (almost like being asleep) and her hand is twitching.



Video #4 - Infantile Spasms:

This is a very short clip from Jenelle's first Video EEG when she was 10 months old. We were pretty new to seizures, and as you can see I'm practically oblivious to her spasms. The "arching" you see in this video is the infantile spasms, and she did it repeatedly. Infantile Spasms is diagnosed when a specific pattern of hypsarythmia is seen on the EEG.




Video #5 - Tonic/Absence:

This is a video we captured to show Jenelle's neurologist when she started having Tonic (stiffening) seizures and longer absence. The clip ends at 3 minutes, but this seizure went longer and we eventually used Diastat.