Sometimes I wonder….. how much longer am I going to be falling down this darn rabbit hole?!!!?
And I guess the answer would be….until I know WHY these things are happening to Anthony. I just can’t be satisfied. I need to find out that deep down reason for why he has had to experience all his medical issues. And with the latest test results, we are that much closer.
Yes, yesterday I received Anthony’s 23andMe test results.
My head is spinning with all the info I see. From the very fun info, such as Anthony has a better memory than the typical person. The cautious information, like Anthony is oversensitive to epilepsy medication, and should never take an iron supplement. To the shake my core information like…..
Anthony has 3 homozygeous (2 copies) gene mutations…
Ironically which are not the MTHFR gene mutation.
He has CBS and BHMT mutations. Which in the simplest of terms means one thing…. Sulfur is BAD for him. VERY VERY bad!! Mainly because his body can not process it like normal. Also B6 supplements and chelators like a-lipoic acid (thank God we never did it!) , NAC, DSM, chollera, milk thistle…. not good for these genetic mutations. Here is a great website with some good information on the matter.
I think back to the Summer of 2012 when we tried doing a liver detox, and how bad Anthony reacted to it. The “gentle” epsom salt baths made Anthony incredibly hyper. Liver Life and NDF + were making Anthony irritable. His OCD was flaring so bad. The worst I had ever seen it. We pulled the detox plug and things started to settle down. But I wondered why such a bad reaction to gentle products?
I think back to the Fall of 2011 when we put Anthony on Kirkman’s Super Nu-thera multivitamin. Which is very high in B6. Something many kids on the autism spectrum need….. but Anthony got very hyper with it. He even started having apnea in his sleep and snoring horribly loud. When I finally put two and two together, we took him off of it. He calmed down, and no longer snored loud or had apnea. From that moment on I knew B6 was not for Anthony….. but why?
My brain is forever asking why……
Well, now I know……
With these mutations the following happens,
“While sulfate is less toxic than is sulfite, it will stimulate the adrenergic (fight or flight) limb of the autonomic nervous system and stimulate a cortisol stress response, revving you up into an unrelenting biochemical overdrive.”
No wonder Anthony can seem so anxious……. part of me wonders if this has anything to do with the PANDAS diagnosis we got a year ago?
So while my head is spinning, I’m trying to find the silver lining in this matter.
And that would be, I finally had the “instruction book” on Anthony. I’m also taking comfort in the fact that Dr. Sletten has had Anthony on TMG for the past 3 years. TMG is fantastic for these mutations. We also have Anthony on phosphtydlserine which is also good, and CoQ10 which is also needed with these mutations. These test results also tell me why Anthony had such a miraculous reaction to TMG supplementation. His body needed it badly!! I hate to think where Anthony would be right now if it wasn’t for TMG. If TMG was a person, I would be hugging him/her so tight right now. In my eyes it saved Anthony!
I’m waiting to hear back from Dr. Sletten on the next steps. I know we are going to have to make another giant change with diet, and do low sulfur foods. I’m going to have to start monitoring Anthony’s sulfur levels (pee sticks) weekly in the beginning to make sure we are on track. To be honest, I’m not looking forward to it. As I know how overwhelming it is going to be. But it needs to be done. I will not ignore this on-going medical issue, just because it is going to be difficult for me for a little while.
I’m sure as I learn more about all of this, I will share with you. But right now, I’m feeling like I just need to research, speak with our biomed doctor, and make a plan. Wish us luck!
If anyone out there has experience with CBS and BHMT mutations, I would love to hear from you. Leave me a comment below. THX!