Miss Mira: Happy Birthday Mira!!

Thursday, June 28, 2007

Happy Birthday Mira!!

Mira turned 2 today! I was able to come home early from work and Sarah had her all dressed up, complete with a silver princess crown. Mira's big celebration will actually be on Sunday, with circus bounce tent and all. Yes, that's right, we are renting an inflatable bouncing tent for 4 hours, guaranteed to produce a minimum of three vomiting episodes and yield several temper tantrums, and not just by me.

Kudos to Sarah, for all of her hard work on the awesome invitations (a plug for her stamping blog http://sukisansblog.blogspot.com/) and coordination of the festivities for the party. I told her she was taking the 'circus' theme too far when she mentioned the dozen scary clowns* - she assured me that she would cut it down to no less than six.

I will post pictures after the party!

(*Disclaimer: No clowns will actually attend Mira's party. Please do not plan to attend the party and expect to be entertained by the aforementioned number of clowns, associated circus animals, or flamethrowers. When you really think about it, all clowns are scary and no one needs to be frightened by one clown, let alone a half-dozen. See complete rules for details or just look at the image below of Sarah with clown at age one.)

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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