It’s been three weeks since we went to the hospital with Nora. The next Monday, Jackie’s birthday, the neurologist came into Nora’s room and told us that the infantile spasms were symptomatic. Then he asked us to have a seat.
Most of the time at the hospital, the lights in Nora’s room were off. They were off when he talked to us about Tuberous Sclerosis. They were off when he and the other neurologists offered to show us the MRI, and then they did a wood lamp examination (it’s a black light) to look for the “ash-leaf” lesions that typically go along with TS. They saw one on Nora’s belly.
In my memory of that morning (afternoon? jeez.), they all looked at each other with frowns in the dark and nodded. I’m sure that’s an exaggeration, but I thought they were certain. We were certain. We looked at the MRI.
Later that night, I emailed the Tuberous Sclerosis Alliance. They emailed me back two hours later and told me to watch out for infantile spasms. No shit. But also, thanks for emailing back so quickly. Then I followed them on twitter. TS is the leading cause of autism and epilepsy, did you know that?
We waited, scared, for the results of the genetic testing to confirm or deny TS.
Then we talked a cousin of my best friend who happends to be a neuroradiologist. He took a look at the MRI and didn’t think it looked like TS.
I talked to a client, who is the former CMO of one of the biggest labratory companies in the country, who reassured me that the genetic testing procedures were sound. She questioned some of the assumptions of the neurologist who talked to us about TS.
We got an opinion from Duke pediatric neurology. She didn’t think it was TS.
We finally got to see our epileptologist at UNC, and she didn’t think it was TS either. We couldn’t find the ash-leaf lesion.
We waited, a little less scared, for the results of the gentic testing.
And then they came to me with the news we were hoping for – the genetic testing doesn’t show the mutations that are typically seen with TS. They’re there in 80%-85% of patients with other TS characteristics.
So, that’s awesome. A-W-E-S-O-M-E.
Nora is continuing to wean off of the steroids and is ramping up on her Topamax. She is super-duper smiley and doing a lot of cooing. She’s quite the trooper. She’s still eating and eating and eating, but we expect that to subside (please) when the steroids go away (11 more days), and then we have another EEG on the 21st.