The Beginning

Our first recap of this whole thing, working on talking about this without getting emotional, but I’m not there yet, so email is better.

Last week, Nora started having weird jerky arm movements and had odd eye movements at the same time. We thought she was just getting startled. Then throughout the week we noticed that she was having clusters of these movements – 10–15 of the movements in a 5-10 minute period.

We called the pediatrician on Friday, she said go to the ER, so we did.

Nora was admitted on Friday and brought up to the Epilepsy Monitoring Unit. By now, we were looking for the movements, and she was having 5-6 of these 10-15 minute episodes per day.

Saturday morning, they put Nora on 24-hour EEG monitoring with video (a lot of wires on her head) and a video camera. At this point, the testing was to confirm or deny infantile spasms.

Sunday evening the neurology team came in to tell us that they were indeed infantile spasms, and then gave us two possible causes:

1. Syptomatic, which means the spasms are a result of a structural problem in her brain
2. Cryptogenic, which is a fancy way to say they don’t really know the cause, but could be vitamin deficiency, metabolic issue, or just unknown.

To determine the cause, they did an MRI (look at the brain) and a Spinal Tap (look for vitamin / metabolic issues). Those tests happened on Monday morning – under anesthesia.

The MRI showed a cortical dysplasia in the left occipital lobe, which is causing the spasms. Essentially means that her brain didn’t develop correctly in this area.

1. First goal now is to control the seizures so that they don’t further damage her brain. She’s going home on significant steroids and other drugs related the effects of steroids
2. Second goal is to figure out what the root condition is that is causing these problems. Genetic testing will be key to determine what’s next, and what Nora’s outcome will be. One possibility is Tuberous Sclerosis, but we’re not sure yet; testing takes 4 weeks.