Miss Mira: Christmas Images

Sunday, December 30, 2007

Christmas Images

Here are some highlights from our Christmas. Mira and Eli got to see Santa once again on Christmas Eve, getting out any last toy requests before the big day. Somehow, Santa looked a little different from the last time they saw him a few weeks ago at Mira's program, but who can tell. He brought gifts and cookies for all the kids. The week flew by too quickly, but we were able to spend lots of time with the Floras and grandma.

Anyway, the images above include the Christmas photo we sent out, Mira and Eli each with Santa on Christmas Eve, the kids at Union Station to see the trains, Eli, Addy, and Truman horsing around in the pack-n-play, and the three amigos watching TV.

Last but not least, Eli got a tiny bit of a raw deal for Christmas. Sarah frantically searched for 'old-school' G.I. Joe action figures and an army jeep, finally outbidding someone on EBay the week before Christmas. Only, the shipment didn't make it in time and Eli had to settle for a late delivery from Santa a few days later.

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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