Miss Mira: Weekend Events

Monday, February 11, 2008

Weekend Events

Aura, Addy, + Truman came into town for Eli's 'Batman Bowling Party Extravagganza Weekend'. (Eli turns 5 on Wednesday!) The festivities continued into Sunday when I took the boys to Monster Jam at the recently completed Sprint Center. Having never attended any sort of racing, car, truck, or motorcycle show, it was an eye-opening (and ear-ringing) experience to say the least. Eli and Addy were reved up for most of the show, but after 90 minutes of trucks, dirt, and noise, they were both pretty much spent. I'm not sure how anyone could possibly fall asleep during Monster Jam, but Addy managed to.

All things considered, it has been a quiet week for Mira. I plan on talking to neurology toward the end of the week so that we can make sure we have the remaining Rett's results for her appointment at the end of the month.

1 comment:

JSmith5780 said...: Happy Birthday Eli!

My oldest, Austin, LOVES Monster Jam. He would be very jealous right now!; February 13, 2008 at 9:08 AM

Post a Comment

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