Miss Mira: No GAMT - More Seizures

Sunday, March 15, 2015

No GAMT - More Seizures

I contacted Mira's neurologist yesterday via email regarding her GAMT panel and he responded that it came back normal. They had tested her levels of creatine, guanidinoacetic

acid, and creatinine, all of which came back within their respective reference ranges. I guess we can scratch that one off the list. I'm not sure whether the genetic panel they ordered passed through insurance or not. If it did, it will be a few months for the results to come back, probably around the time we have Mira's next neurology appointment.

Mira struggled with irritability all day yesterday. As the boys are have been battling a stomach bug all weekend, it is likely that Mira's stomach was giving her issues too. Eli said his stomach was bothering him Friday night and into Saturday morning, which led into Jonah catching the bug, which led to a lot of vomiting all day yesterday. Jonah seems to be doing much better this morning, which is a drastic change from yesterday, when he couldn't keep so much as a sip of water down all day long. Sarah and I ended up cancelling our dinner date, which was disappointing as it was one of only two different occasions this year that we actually had a babysitter available.

Mira had a steady flow of myoclonic seizures all day long yesterday, but heaviest in the morning. It is likely, with the stomach issues floating around and the constant seizure activity, she probably wasn't feeling very well. I got her in the swing yesterday afternoon and for the first time, she didn't care for it - she briefly smiled on her first push, but it quickly faded into more fussing, which was a good sign that she was probably feeling nauseous. I didn't want to press my luck with another vomiting episode in the swing, so I gave up pretty quickly.

This morning she woke up and had a huge seizure about 30 minutes ago and has been quietly resting. Hopefully, the rest of the day will be better. She ends up getting draped in her Hello Kitty snuggie, which at least makes her looks stylish while she is sleeping it off.

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Mira's Brief Story

Mira was diagnosed with Infantile Spasms (I.S.) in September 2005. Since her diagnosis is part of larger picture of issues, including developmental delay, and hypsarrhythmia, Mira was originally diagnosed with West Syndrome.

Hypsarrhythmia represents a completely chaotic and disorganized EEG background pattern consisting of high amplitude slow waves and spikes that are asynchronous, non-rhythmic, and variable in duration. The common combination of seizures/spasms, developmental delay, and hypsarrhythmia constitutes the form of infantile epilepsy, West syndrome.

Since Mira has what is described as a catastrophic epilepsy and has multiple seizure types, she has also been diagnosed with Atypical Dravet Syndrome (SMEI), Lennox-Gastaut Syndrome (LGS), and at even Atypical Rett Syndrome. While a host of early genetic testing failed to find a typical mutation, deletion, or mosaicism in the typical genetic markers for these syndromes, it does not rule out other possible associated genetic markers that have yet to be discovered. Mira has also been tested for a series of other random genetic syndromes, through partial genome sequencing and a few individual microarrays.

In 2015, a heterozygous mutation of TPP1 was found through a genetic epilepsy panel. We do not have a definitive answer as to whether this mutation (associated with NCL - Neuronal Ceroid Lipofuscinosis) is relevant to Mira's diagnosis.

Mira has tried nearly every anti-seizure medication, finding brief 'success' with Lyrica, her 14th medication. Mira was seizure free* for about 6 months in late 2007 and into early 2008.

*(Her EEG never improved during this period, which means that she was still clinically having seizures and that the Lyrica was simply masking the symptoms. Visible seizures slowly surfaced after about 5 1/2 months of being on Lyrica.)

She received weekly OT/PT, vision, feeding, aqua, and group therapy up until 2011. She now receives PT/OT and other therapies through the school district. Mira also did hippotherapy for the summer in 2008 as well.

For Mira's longer story, please visit the January 2007 Archive. For an explanation on this blog, visit the January 2, 2017 post.

Medications Tried - in Chronological Order