Miss Mira: 'Aaaaaeeeyyyyy, Sleep on it!'

Saturday, May 12, 2007

'Aaaaaeeeyyyyy, Sleep on it!'

Last night was pure hilarity for Mira for some reason. Every night, we have a ritual that involves a bath, pajamas, and laying her on the bed with 'The Bunz' before she goes into her crib. The Bunz (a pink bunny nicknamed after perhaps one of the best characters ever to hit 70's prime-time, 'The Fonz' - why I don't really know, these things just happen) has a string, that when pulled, produces a quiet lullaby that Mira tunes into, usually resulting in some smiling and brief visual tracking for her. She usually stops fidgeting immediately when she hears the song and will focus in on The Bunz to hear the song.

Last night, Mira was so excited, she ripped out a great extended belly-laugh and was really digging The Bunz, laughing loud and smiling at him, her arms and legs flying around. Rare form for Miss Mira - we haven't heard her laugh like that in a long time.

So, Bunz, thanks for the memories........sure wish we got it on tape!

1 comment:

Sophie's Story by Elaine said...: That story warms my heart. It is moments like these that get us through the hard times.; May 13, 2007 at 12:19 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