Thursday, April 7, 2016

MTHFR continued

Ayden Jane tested positive for a heterozygous mutation in two places. I have read a fair amount on what all this means, both very scientific and more anecdotal. In the end, I am still a bit foggy.

What I do know is that when the MTHFR gene mutation occurs it means the bodies ability to convert folic acid into a bioavailble form is down regulated. Typically, a person can work around this without too much struggle but, of course, those with PWS already seem to have something going on with the B12. So, if you need folate to properly use b12, but you aren't good at converting folic acid then you are not getting the full bang for your buck from the b12.

Now history shows how significantly Ayden Jane is effected by b12 and there have been lots of parents who report dramatic effects from it. So, I was scared to mess with this. Seriously, it could be wonderful, or it could make her crazy. Or, it could make her crazy on the way to being wonderful.

I looked at lots of options and settled on the Pure Encapsulations B complex. here. I went with a balanced approach because it just made sense to start there. This complex has 400 mcg of Metafolin. My plan is to start with this complex and then add a bit more of the straight folate very gradually over time.

If you have managed to hang in there this long, now it's going to get good!

Day 1 response: I received a text message from Ayden Jane's swimming coach. She has never texted me before so this blew my mind. Here is our exhange:

 "I wanted to tell you how impressed I was with Ayden Jane today. She listened so well, barely had to ask me twice with instructions, was focused and had no trouble keeping up! Really proud of her hard work."

I responded and thanked her for noticing. That we were tweaking something in the nutritional supplement arena and hopefully we are on to something. Her response:

"You are! I thought you may be trying something. She was a different child and I could tell she loved it and was so proud of herself that she could listen and then do it. It was like her brain was awake!!"

Day 2 response: Substitute in school so not sure how that went. Once home, she had a snack and then hit the ground running. We went to the beach and I offered her supper before the pool. She said she wasn't hungry and opted for pool first. After pool her friends knocked on the door so she chose to put it off again. By this time it was about 7:15. She came in after playing and too a shower. Then chose to walk the dogs because, "I still have wiggles." Finally, by 9:10 she was tired and ready for bed, but still had not eaten ANYTHING since 3:30. She just said she was fine and didn't need anything to eat. 

Now I am guessing that this will not last. That she is sort of on a high from being flooded by stuff she has been managing without. It will take time to adapt to a new and improved typical.

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