Miss Mira: Skunk + Spiderman Sightings!

Thursday, November 1, 2007

Skunk + Spiderman Sightings!

We had a great Halloween last night and have enough candy to be on a sugar high until early 2012. Mira was a skunk, which she seemed to get a big kick out of most of the time she had it on (despite the frown in the pictures). The tail was the kicker for the costume!

Eli was Spiderman with exaggerated muscles and all. We made it up and down our block before

he decided he didn't need to go door to door to get candy - we have plenty at home! I was even able to cash in on some of the candy, when Sarah picked up a bag of Bottle Caps. Now, my teeth hurt. Mmmmmmmmmm.........sugar.

We did finally get Mira's Kidcart on Wednesday as well. It is a three-piece interlocking system that has a seat, a 'cart' for around the house, and a stroller base, all for a mere $6,200 retail. We will find out from insurance how much of that we will end up paying. She was seen at the seating clinic at CMH over the summer to get fitted for it. She is just on the cusp of being too small for some of the straps, but she will grow into it.

Mira continues to do very well since being on the Lyrica. She had one seizure today, but was extremely active after dinner and even knocked her toy straight off the chair.

1 comment:

Melanie said...: They are so adorable! Love the skunk!
I am glad to hear that the medicine is working for Mira. She also looks really good in her seat.; November 4, 2007 at 8:48 PM

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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