23 and Me and my DS--Mind exploding messily

[lynn]

So as I sort of expected, DS17 has both CBS and BHMT hetero mutations, hence the failure of my attempts to give him "nice soothing epsom salt baths" that turned him into a furious ball of anger looking for a target. He has a bunch of other mutations too, some of which require conflicting support (both push and restrict taurine, for example.)

 

I really wish there was a doctor where you could just go up to them and say, "Here are DSs 23andme results, please tell me what to do," and he would know, as opposed to asking what I want to do. (What I want to do is have several large gin and tonics, but that doesn't seem helpful to anyone but me.) I know that I need to go to all of the references that LLM has very very helpfully provided and read through them and figure it all out, (and then break through DH's wall of denial and disbelief) and I will do that, but is there actually a doctor anywhere near NYC or available on Skype who can work with me on this?

 

OK, whine is over. I should actually be happy, since now I have an actual clue as to what is going on, and that puts me ahead of 90% of the doctors that I have worked with!

 

Thanks to all the hardworking people on this board who figured this out (LLM) and who fearlessly post about it so the slower of us can catch up and get it!

 

Lynn

[Mayzoo]

I am a rum and coke or wine kinda gal, but sometimes my drinking one does help a few around me . Good luck and I will be following behind you soon........

 

I don't have my kiddo's results yet, but they are in the works. I also remembered she had very extensive testing through a hospital we went to. They did a first pass analysis, then later when a micro analysis was available, they did that. I am trying to get her results for that too now. Then I will be wading through those for a while I am sure.

Edited May 15, 2013 by Mayzoo

[LNN]

My vote is for a pina colada with a little umbrella on a Caribbean island..even if some gene says pineapple is bad for me.....

 

There are a few practitioners on the FB MTHFR Support page or you can go to www.mthfrsupport.com to their find a practitioner section. The main contributors to the facebook page are not MDs - one is a chiropractor, one a nutritionist, one a PhD in physical therapy. They seem to be well versed in methylation issues but my impression (I have not spoken with any of them) is that they deal more with adults and adult chronic health problems (arthritis, CFS, thryoid, cancer, etc). I don't see mental health issues addressed as often and while I know Pandas is mentioned, it's mentioned by the parents who post and not necessarily the practitioners. So I think they might be able to offer a perspective and guide you regarding supplements, I don't know how well they'd be able to incorporate that into the saw-tooth pattern of Pans flares where sometimes you need more or less of something.

 

Their value I think depends on your comfort zone. If you're the kind of person who really wants the reassurance that a trained professional can give, then it's probably worth a phone consult at least. I know a few people here have done consults and maybe they'll post about their experiences. I did not do a consult in part because I'm pretty happy with what I've been able to do on my own thus far. But if I get stuck, that view may change.

[ptcgirl]

Wine is helpful for sure.....

 

I just got my DD's back. Just posted it to LLM privately but in case any one else has any insight....

Are these pretty typical?

 

 

My daughter's results showed homozygous mutations in:

VDR Bsm

MTRR A66G

SOD2 A16V

Which I'm guessing means to supplement with Vitamins B12 and D??? I don't really know what else to do. What kind of doctor could help look at this stuff or is it all up to us.... (as usual).....

And the heterozygous mutations were in:

COMT v158M

COMTH62H

MAO A R297R

MTHFR C677T

MTR A2756G

BHMT-04

BHMT-08

CYP1A2 164A>C

Cyp2C9*3 A1075C

CYP2D6 S486T

CYP2D6 2850C>T

GSTP1 I105V

NAT2 I114T

NAT2 K268R

Any opinions greatly appreciated....

[Mayzoo]

Wine is helpful for sure.....

 

I just got my DD's back. Just posted it to LLM privately but in case any one else has any insight....

Are these pretty typical?

 

 

My daughter's results showed homozygous mutations in:

VDR Bsm

MTRR A66G

SOD2 A16V

Which I'm guessing means to supplement with Vitamins B12 and D??? I don't really know what else to do. What kind of doctor could help look at this stuff or is it all up to us.... (as usual).....

And the heterozygous mutations were in:

COMT v158M

COMTH62H

MAO A R297R

MTHFR C677T

MTR A2756G

BHMT-04

BHMT-08

CYP1A2 164A>C

Cyp2C9*3 A1075C

CYP2D6 S486T

CYP2D6 2850C>T

GSTP1 I105V

NAT2 I114T

NAT2 K268R

Any opinions greatly appreciated....

 

My only input so far is it looks like a toddler got a hold of your computer .

 

The MTHFR C677T I believe is a methyl folate mutation. LLM will be more helpful I am sure . Maybe, I can be more helpful in a few months, or maybe you can help me in a few months

[Dedee]

I just got results for my 3 children back over the past week. I have read and studied until my brain hurts. Amy Yasko's book is very helpful and it's a free download on the internet. Also, she has several free online video's that are both helpful and confusing at the same time. If you go to her forum (you have to become a member), there is tons of information there you can read also. I have found that watching her videos and reading the information there has helped me. Also, LLM has been a great resource.

 

Dedee

[Mayzoo]

I just got results for my 3 children back over the past week. I have read and studied until my brain hurts. Amy Yasko's book is very helpful and it's a free download on the internet. Also, she has several free online video's that are both helpful and confusing at the same time. If you go to her forum (you have to become a member), there is tons of information there you can read also. I have found that watching her videos and reading the information there has helped me. Also, LLM has been a great resource.

 

Dedee

 

What is the name of the book you refer too? Do you happen to have a link? I may need an advanced genetics deciphering book for dummies .

[LNN]

PTCgirl - I am CBS +/- so I ca't join in any wine tasting. High sulfur But that's ok, I'll sip my umbrella drink instead.

The good news for you is there's no CBS and no VDR Taq - makes life a little simpler, tho I'm sure you don't feel that way. A quick summary of your results says you have trouble with neurotransmitters! Shocking, I know.

 

The best way to start (for me) was to cut and paste this entire document http://www.heartfixer.com/AMRI-Nutrigenomics.htm into Word. Then delete the gene sections that don't apply to you (and the recipe fluff at the end). Then go back and really read what's left, highlight or bold things you think are important. In some cases, it can feel conflicting, especially for those of us with VDR Taq/COMT combos. But you don't have that. The other stumbling block will be when you have some genes that talk about needing methyl donors and others suggesting you need methyl users. So trying to figure out that balance requires some gut guesses based on knowing your child's personality and then being prepared to screw up along the way.

 

Mayzoo here's the Yasko links:

http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf

and a helpful 1.5 hr video

http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1-

 

The best "quickie" intro to methylation is the first few pages of the heartfixer link I pasted above in this post. But it gets very complicated and will require some studying. I've read Yasko's book twice and will now re-read it for a third time with my results in hand. But IMO, it's worth the investment.

[Mayzoo]

PTCgirl - I am CBS +/- so I ca't join in any wine tasting. High sulfur But that's ok, I'll sip my umbrella drink instead.

The good news for you is there's no CBS and no VDR Taq - makes life a little simpler, tho I'm sure you don't feel that way. A quick summary of your results says you have trouble with neurotransmitters! Shocking, I know.

 

The best way to start (for me) was to cut and paste this entire document http://www.heartfixer.com/AMRI-Nutrigenomics.htm into Word. Then delete the gene sections that don't apply to you (and the recipe fluff at the end). Then go back and really read what's left, highlight or bold things you think are important. In some cases, it can feel conflicting, especially for those of us with VDR Taq/COMT combos. But you don't have that. The other stumbling block will be when you have some genes that talk about needing methyl donors and others suggesting you need methyl users. So trying to figure out that balance requires some gut guesses based on knowing your child's personality and then being prepared to screw up along the way.

 

Mayzoo here's the Yasko links:

http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf

and a helpful 1.5 hr video

http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1-

 

The best "quickie" intro to methylation is the first few pages of the heartfixer link I pasted above in this post. But it gets very complicated and will require some studying. I've read Yasko's book twice and will now re-read it for a third time with my results in hand. But IMO, it's worth the investment.

 

Thank you very much. I had the book already downloaded, but have not read it all, but at least I have started that one. The videos I did not have the link to yet. I have looked over the heartfixer link very briefly, and will continue to scour it. I have my homework cut out for me I am sure .

[lynn]

OK, so rereading, DS is homozygous for VDR taq, BHMT-08, and CBS A360-A, and heterozygous for MTHFR C677T, a couple of COMTs, a couple of MTRRs, a few more of the BHMTs and SHMT C1420T. The treatment for these is to go on an animal protein-free diet (oh how popular I will be in my house) and supplementing with a number of different vitamins. I am supposed to take care of the CBS first although this CBS mutation is not the worst one. (yay?) This is quite complicated.

[ptcgirl]

LLM, even more confusing to me is that my DD's homocysteine levels are low instead of high which I know is better in some ways but how do I supplement when all the info I find is for high homocysteine levels.

 

I'm going to read up like you suggested. So tricky but interesting too...

[sf_mom]

There is a Dr. in the Bay Area that does this type of testing regularly although with a different company. Her primary focus has been Autism due to her son's own recovery but has branched into treating PANDAS/PANS. Several years now.

 

She does offer hd IVIG if needed for PANS but is also very versed in IV chelation for children (not many Dr.s will provide), other IV mineral/vitamin treatments and understands chronic infection, etc. For those in the Bay Area or close she is good choice for PANDAS/PANS or supportive care to LLMD/PANS Dr. I am not sure if she will do phone consults but it might be worth making the call for guidance with results on 23andMe testing if needed.

 

http://www.developmentalspectrums.com/index.php?option=com_content&view=article&id=1&Itemid=168

 

Over the course of her career she found many mother's to be sick along side their kids (sound familiar?). Anyway she also treats adults.

 

http://www.optimalhealthspectrums.com/

 

We do not see her because we have someone similar closer to our home and is now closed to new patients. A good friend see her for both her and her son "PANS" and she has been very helpful to both.