I realize I haven't posted a medical update in a while, and mostly it's because she's doing pretty well. But, also because it's just hard to write about most days. The reality is, Emily is never "OK". She has a chromosome disorder for which a prognosis can not be given. It will never be cured or fixed. She has wrong information in every chromosome of her entire body. She has epilepsy everyday, even though she has not had seizures on a daily basis since March. Everyday she also has hypoglycemia, hypercalcemia, g tube dependence, cortical visual impairment,
kidney reflux, gastric reflux, and constipation issues.
Will some of these conditions get better?
Will she grow out of some of these issues?
Are some of these conditions improving with medications?
But any day, any moment, we live in fear that something new and scary could "attack" her and make this stable period we are in right now feel like a distant memory.
As far as right now goes, Emily recently had an EEG, prompted by a few break through spasms 5 days in a row in July. She had one cluster of spasms in May (after being seizure free for 103 days), and one cluster of spasms in June. She has also recently been sleeping more during the day, and having difficulty eating again, so her neuro thought maybe her EEG was getting worse. It turns out that her EEG has changed. She is not in hypsarrhythmia now (for the first time since being on ACTH 12/07-2/08!), but the EEG showed a slowing pattern according to the docs. This could mean that she is developing Lennox Gastaut Syndrome, which means she will probably have some type of seizures for the rest of her life.
The plan was to wean her off of Zonegran, keeping her on Keppra and the keto diet. If the seizures were to start back up again, we would start Lamictal, most likely.
She has been finished with the Zonegran for a week now, and we have seen no seizures, so we are holding off on starting any new meds for now.
In other areas; she is still smiling a lot, laughing some, blowing raspberries some, eating a little bit better, rolling all over the floor, holding her head up pretty well, and sitting fairly well in a supported position.
And as always, she's absolutely adorable!