Monday, May 18, 2015

Epilepsy Panel Results + More

Today was a busy day. First and foremost, Mira's comprehensive epilepsy panel results came back and while they did find a mutation, it is not likely that this is the cause of Mira's relentless seizures. The exact report was: a heterozygous missense sequence variant in exon 11 of the TPP1 gene, p.His435Asn (c.1303C>A). I don't understand the significance of the location of the variant, but I do understand that since it is a heterozygous mutation, she still has one functioning gene, thus making it unlikely that the variant in the TPP1 gene is relevant to anything. The complete profile on this particular gene can be found here.

On a completely different note, I have been inquiring with the endocrinology clinic, as well as neurology, in regards to GSD-1. GSD (Glycogen Storage Disease, Type 1 in particular - there are 9+ variations on this disorder) is an issue where the body cannot properly process glucose, which leads to an almost constant state of hypoglycemia. I have been reading one of former neurologist's notes from way back, which I have mentioned before. All of his notes, along with observations of Mira's demeanor and seizures, has led me to discuss the possibility that she has some sort of GSD. Based on her symptoms, I would guess that it would be most closely related to GSD-1 or GSD-0.

One of the biggest 'clues' I suppose is the fact that Mira wakes up every single morning, without fail, having seizures. Most of the time they are myoclonics and often they lead into bigger tonic-clonics, but they are always present. I have often questioned whether this has something to do with her potentially being hypoglycemic, which is a huge factor for those with GSD.

After some correspondence with endocrinology and neurology, we have decided to conduct some glucose and ketone monitoring at home with Mira over the next week, using a glucometer and Ketostix. We will see where all of this might lead.

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