Miss Mira: Back in the Swing of Things

Friday, September 21, 2007

Back in the Swing of Things

After some travelling last weekend and more this week for business, things are settling back down for this weekend. I was trying to come up with a witty title and all I could come up was this? Secretly I have the 1985 'hit' by A-ha stuck in my head. Yes, random, very random.

Mira has been doing well over the past week. She is still averaging about a seizure or two a day, but has really been in a good mood all week. She seems to be handling the tweaks with the diet, especially the MCT oil. We are gradually increasing her intake to get to 1 oz. daily. She has been off of the Lamictal completely for a week and we haven't noticed any negative changes yet. We will start weaning the Zonegran very soon.

We all had a great time in Saint Louis last weekend and especially at Siena's (Mira's cousin) birthday party. Thanks to Tom and Nikki for the animal farm fun!

(Pics from left to right: Eli and the tortise; Siena on a wagon ride; Sophia with the rabbits; Siena ready for some cake)

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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