Thursday, August 18, 2016

Complete Turnaround - Thanks Pyridoxine!


Mira has been doing unbelievably better these past 4 or 5 days and I suppose we owe it all to pyridoxine. She had been having such a miserable time over the past 2 weeks, that we had to try something different, if for no other reason that to break the irritability cycle she was lodged in. As history has shown, Mira always seems to respond well to higher level dosages of pyridoxine, particularly in the 15-20mg/kg range. I have had many theories about her being pyridoxine dependent (too many to count) but I can assure you, at an absolute minimum, she is pyridoxine responsive. Regardless of how, what, why, and for how long B6 works for her, I am convinced it does work for her, in some capacity. Even if she has never tested positive for the ALDH7A1 gene, you will have a hard time convincing me, after this past week, that she doesn't have some sort of genetic, molecular, mitochondrial, and/or enzymatic dysfunction that responds to pyridoxine. Her turnaround since giving her the equivalent of 20mg/kg, has been nothing but miraculous. I have not witnessed (although others have) her fuss, whimper, or cry for the last 5 days. Instead, I personally have heard nothing but vocalizing, dragon noises, and overall, utter happiness. She also has not had a major tonic-clonic for quite a while. She did have some brief myoclonics in her bed yesterday afternoon, but that has been about it. I don't care if this is short-lived or not - right now, Mira is very happy, doing well at school, and has had a minimal amount of seizures all this week. The driver and para on the bus said she was crying her eyes out yesterday on the ride home, constantly pulling on her chest piece in the process. The second Sarah got her in the house and out of her chair, she immediately stopped crying and was happy as can be. That to me is a sign of expression - her wanting something by communicating, rather than just crying non-stop, with every effort on our part, being an exercise in futility and frustration. The repeated chest piece grabbing is something new. She also has been clutching at her legs, chewing on her blanket, and consistently vocalizing every single day since starting at the this higher dosage. She had been on a dosage of roughly 8mg/kg since we tapered down last September, after being on a higher dosage last summer. We saw amazing results for a few weeks last year, but it slowly faded out within a matter of a few months, as she fell into her old patterns of heavy seizures and high irritability. I'm fully prepared to ride this out indefinitely, knowing there are 2 variables that differ from last year, that may or may not have an impact on her recent success. First of all, she is on a higher dosage of fluoxetine (we raised it several weeks ago, due to irritability) and second, she no longer has her toy, which was an enormous seizure trigger. So, the pyridoxine journey continues and we will again, take it day by day.

4 comments:

Anonymous said...

Hi!
Im curious about what a normal school day looks like for Mira? What are the subjects/training with her? Do they do individual schedules? How big is her class? Does she have a 1on1?

Kind regards!

Marc said...

Good question - her day is pretty structured. She gets vision, OT, PT and other therapies during the day through the public school system here. Some of her therapies are 1 on 1 and other times, they are done in a group setting. For instance, her teacher and/or paras get her in the Kidwalk nearly every day, which serves as part of her PT and OT - other times they will work with her on the mat 1 on 1. Sometimes she will have vision therapy with the entire class, but other times it will be on an individual basis. It just depends. She has 4 other kids in her class, all of who have pretty significant disabilities. The class operates the same as a traditional class in a sense, with doing some activities as a group and doing other activities individually, based on the child's specific needs - only the activities themselves are obviously different. Hope that helps!

Anonymous said...

Thank you so much for your answer! I hope mira enjoys her school! :)

Marc said...

Thank you!