Miss Mira: All-Star Weekend

Tuesday, July 14, 2015

All-Star Weekend

Mira woke up in a great mood this morning, despite having a ton of myoclonics. Ironically, this weekend and yesterday, she didn't have any seizures - no myoclonics, no tonic-clonics, and no twitching at all since the two big seizures on Friday. Her streak ended this morning by having a steady stream of myoclonics, then ended up having 2 big tonic-clonics - one this afternoon and another during dinner. Regardless, it was nice to to see her have a few consecutive seizure-free days. Despite all of the seizure activity today, she remained in a positive mood, having only one fussy spell at school, when she was in her Kidwalk.

She was fairly fussy over the weekend, probably because we were trapped indoors most of the time. The sweltering heat and humidity here has been going strong for 4 or 5 days and it is supposed to last through the end of the week, at a minimum. We went outside a few times on Sunday to spend some time in the park, but the swings were so hot, you couldn't even sit in them. Mira didn't care for the heat either - she was sweating up a storm after only a few minutes.

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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