Miss Mira: Ready for Relief

Thursday, October 1, 2015

Ready for Relief

It's been a long week for everyone. Mira has been having more seizures than usual, with today being probably the best day she has had all week, only having a few myoclonics this morning. She didn't have any tonic-clonics and has been in a positive, yet quiet mood most of the day. She had a fair amount of time with her toy this afternoon and she wasn't interrupted by her usual stream of head drops and seizures. It was nice to see her having some relief after a stressful week of seizures.

I have been putting in a fair amount of overtime at the office over the past two weeks, which hopefully my schedule will be returning to normal soon. With travel and juggling three different projects, September proved to be a tiring, blur of a month. It will be nice to be at home this weekend and not have to worry about deadlines, at least for a bit.

Mira has school pictures tomorrow, which is always a guess as to what sort of mood she will be in when it's her turn to be in front of the camera. Some years she is completely out of it, either slouched over or taking a nap. Other years she is just irritable, posing for the lens wearing the longest frown you can imagine. Whatever tomorrow brings, just know that she will be wearing the beautiful outfit she can, thanks to Sarah's great taste in fashion.

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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