"Okay Punky, it's time to go night-night's again," I said to her Daddy was in the washroom. I laid Zoe down on her side, and laid down next to her. 30 second later, at 3:20am, Zoe turned to face me with a fearful look on her face. Her eyes were wide and unblinking, her expression was that she was afraid, and then it happened. For the next 15 seconds, her hands twitched rapidly, while her body thrust. She appeared to be attempting to gain control of her body by trying to place one twitching hand on top of the other. Her hands were twitching more rapidly than the rest of her body. I placed my arm around her, and said her name, but there was no response. Just the blank stare of fear across her face, unblinking. And just as quickly as it started, it was over, followed by the high-pitched, strange cry she produced, that I had never heard before. She immediately reached for me, and less than 10 minutes later, was sleeping again.
Now, if you know Zoe, when she wakes in the night, it takes at least two hours before she goes back to sleep.
So, after seeking some assistance and opinions of other Micro parents, I took Zoe to the hospital out of town, a Children's hospital. En route, Zoe had another "episode", like the first, about the same length. We arrived at 8:30am, and around 10am, were seen by a resident doctor. By this time, we had two nurses see her and tell us it sounded like a seizure. The resident doctor said the same, and FINALLY, called up to pediatric neurology. The doctor took down our family history, Zoe's medical history, etc, and decided she needed to consult the head neurologist. She was also convinced that Zoe was having seizures.
Three hours later, the head neurologist came to see us. He had taken a look at Zoe's MRI scan from December, and shed a little more light. He explained that she is missing or has damaged myelin, a white coating over some nerves in her brain, and that the connection between her white matter, which sends the signals to the brain and body, and the gray matter, which holds the cells in the brain, is severelyy disrupted, and it is definitely being caused by a genetic condition. Which one, we do not know yet. He told us that this signal is disrupted in both hemispheres of her brain, and most affected is the cortex. This does one or both of two things: Causes developmental delays, and causes seizures.
He said by what I described, she definitely did have a seizure, and given that both sides of her body were affected, it was a generalized seizure. He mentioned that he wasn't convinced she was having absence seizures, as we have suspected, as this would mean she would have to have a second, unrelated genetic disorder, but that it's not impossible.
He also tested a few reflexes and found her to have a clonis reflex in her left leg. This means that rather than a smooth reflex, her reflex has an extra set of "beats" to it, and is more jerky. She also has an issue with her eyes, saccadic eye movements, meaning that when she's following an object, rather than following it smoothly, her eyes tend to jump in position to follow it. He says both of these are related to the unknown genetic condition that she has.
As a follow up, Zoe will be scheduled in for an EEG within the next two weeks and we will receive a call based on those results. The neurologist did not want to pursue any testing, as Zoe's microarray will be back on the 19th. He also does not feel that seizure medications are necessary at this point.
Welcome to the Seizure Club!