Miss Mira: Merry Christmas!

Sunday, December 25, 2016

Merry Christmas!

Our day started at around 5:45am, when both of the boys woke us up, ready to open presents! Not surprising - Eli has been wanting to build his own computer for months, earning and saving money so he can slowly buy all of the parts he needs. His hope was that Christmas was going to get him one step closer to that goal, by hopefully getting additional cash to buy more parts. Jonah
has been talking about Minecraft toys and telescopes for a while as well. They both were not disappointed, as Santa delivered the goods this year. Mira got a ton of outfits, a new winter coat, a new Gap zip up jacket, and a huge pink cozy blanket. This is the third one that we have bought for her, since the boys tend to take her blankets and run off to their respective rooms with them. This one is all hers.

Mira has been having a decent week, up until today, where she became irritable most of the afternoon. The toy helped alleviate some of her crankiness, but her time with it has been fairly limited. She seems to be interested in it for less and less time - she tries to shove it off her tray after less than 10 minutes each time. We have been on quite a few walks, including today, to help break up the day and to take advantage of the spectacular weather. We went from below zero temps last week, to 62 degrees today - it has been crazy around Kansas City and the midwest for that matter. Overcast and breezy for Christmas made it feel like Northern Florida.

We won't be doing much this week but relaxing after a great day with family, cooking, and presents. Hope everyone had a Merry Christmas!

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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