23&me results.

[Guest]

Several people have suggested I post my results, as I am way WAY too sick to read and learn how to interpret myself. I hesitate to do this b/c I don't want it to be a disposition or burden. If you don't have time or energy, that's fine. I am able to learn certain things still even with a sleep deprived and extremely fatigued and painful ocd brain, but this is one that I could not grasp.

 

 

Gene & Variation rsID Alleles Result

COMT V158M rs4680 GG -/-

COMT H62H rs4633 CC -/-

COMT P199P rs769224 GG -/-

VDR Bsm rs1544410 CT +/-

VDR Taq rs731236 AG +/-

VDR Fok-I not found n/a n/a

MAO A R297R rs6323 TT +/+

ACAT1-02 rs3741049 AG +/-

MTHFR C677T rs1801133 AA +/+

MTHFR 03 P39P rs2066470 GG -/-

MTHFR A1298C rs1801131 TT -/-

MTR A2756G rs1805087 GG +/+

MTRR A66G rs1801394 AG +/-

MTRR H595Y rs10380 CC -/-

MTRR K350A rs162036 AA -/-

MTRR R415T rs2287780 CC -/-

MTRR S257T not found n/a n/a

MTRR A664A rs1802059 GG -/-

BHMT-01 not found n/a n/a

BHMT-02 rs567754 CC -/-

BHMT-04 rs617219 AA -/-

BHMT-08 rs651852 TT +/+

AHCY-01 rs819147 TT -/-

AHCY-02 rs819134 AA -/-

AHCY-19 rs819171 TT -/-

CBS C699T rs234706 AA +/+

CBS A360A rs1801181 AG +/-

CBS N212N rs2298758 GG -/-

SUOX S370S not found n/a n/a

NOS3 D298E not found n/a n/a

SHMT1 C1420T rs1979277 GG -/-

You have 1 homozygous (red) mutation(s). These are the worst type of mutations. They include:

MTHFR C677T

Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):

MAO-A R297R

MTR A2756G

BHMT-08

CBS C699T

Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):

VDR Bsm

VDR Taq

ACAT1-02

MTRR A66G

CBS A360A

Thanks again for any feedback.

[searching_for_help]

Hang in there for a bit. I just got home and I don't know much, but can print out some things from Yasko's book a bit later on when I get time. I know LLM and others on here are really pretty knowledgeable (considering this is new stuff, even to the medical community!) They have been amazing helps.

 

I've thought, before seeing your results, that with all your health problems, you MUST have an MTHFR mutation, and now I see you do. So you can bet you'll need to start taking some type of L-methylfolate, and NOT regular folic acid. We order Folapro off of Amazon, but your doctor could write you a script for Deplin, if you are more comfortable with that. Hopefully others will jump in and will be able to determine if you need, or should avoid methyl groups. If you can tolerate them, there is a prescription that combines methylfolate with P5P and methylcobalamin - it's called VitaCirc B - but as I said it would be best to see if you can tolerate the methyl groups. I think since you don't have any COMT problems, it might be OK, but wait until someone else chimes in on that. ALSO, from what I've been reading about MTHFR - you need to start low and slow.

 

I do have to run, but will be back on later. I have been so concerned about you, and think of you often. I really feel like these results can start you on the road toward much better health when you are treated appropriately!

[searching_for_help]

I think your best bet is to take the genetic genie report to your doctor. (Did you find one yet?) It would be best to find a doc willing to do some testing. The genetic genie results pretty much take you through, step by step. I'm assuming your results addressed the MTHFR mutation first, then maybe the ACAT?, then your CBS. You'll notice it says the CBS should be addressed BEFORE adding in other supplements, as they can lead to nowhere, or deplete the rest of your cycle. I never have the patience to wait, so I'm curious how others feel about this.

 

If you can't afford testing, or can't find a doc willing to do it, I would at least start on the L-methylfolate I mentioned in my earlier post, for your MTHFR. I've read of people with lifelong depression, (that psych meds never helped), suddenly feeling better after starting Deplin or another form of L-methylfolate. It could, and probably is, causing your chronic fatigue (I can't remember all your symptoms, but I remember they were both physical and mental, and this nasty mutation can cause BOTH.) Also, skimming through the genetic genie stuff, it looks to me like you should be OK with methyl donors, and it also looks like you'll really need B12. So even the VitaCirc B might be good for you. That's the one that combines the methylfolate, special form of B6(p5p), and methylcobalamin (B12). VitaCirc B is the generic for brand name Metanx. Deplin is just the L-methylfolate.

 

I don't know if you've had your B12 tested, but my dd's doc just told her that even if B12 levels are OK or high, doesn't necessarily mean your body is using it correctly. And you've got several mutations that look like they can mess up your B12. Your ACAT can deplete B12. "Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency." (That quote should be in your genetic genie info, and methylcobalamin is a form of B12.) So basically you have several mutations affecting your B12. That can cause I'll kinds of problems.

 

Hopefully someone else will respond and tell you (and me!) if it's OK to treat the MTHFR FIRST, or if the CBS needs addressed first. I've read many wonderful reports by those just treating the MTHFR with the L-methylfolate, that I'm guessing that might be where you want to start. Here is an interesting site if you feel well enough to check it out: http://mthfr.net/read-this-first/2012/01/25/

 

Also thought this was well written. I sure wish this psychiatrist was local. (She's in Springfield, IL, and does genetic testing.) She sounds AWESOME! You'll have to scroll down to get to the article on MTHFR. http://macrobioticdoctormom.blogspot.com/2013/05/chemistry-you-should-know-understanding.html

[LNN]

Because you don't have the energy to delve into this with both feet, these are the snps I'd probably concentrate on first if I were you:

MTHFR +/+

MAO-A +/+

CBS +/+

VDR Taq +/-

 

Understanding and addressing these will probably bring you the biggest bang for your buck. Then, when you're feeling stronger, go back and look at the whole picture and tweak for the other snps as your energy and funds allow. Not saying to never address them, just come back to them later.

 

Searchingforhelp is right - Yasko and others say to address CBS first. Think of two important cogs in a clock. The cog on the left is the methylation cycle. The cog on the right is the detox cycle. CBS sits where these two cogs meet. Being CBS +/+ means this gene is upregulated - it works in overdrive all the time. Yasko's thinking is that if you toss supplements into the cog on the right (the methylation cog) before you address the CBS issue, you're going to start one cog spinning before the second cog can handle the added toxins you start sending down the pipeline. As frustrating as it is, you do need to treat CBS first, or at a minimum, start it for 2 weeks and then slowly, slowly add some methylfolate and methylB12 (for MTHFR) while you still go heavy on treating CBS/detox issues.

 

Now, keep in mind I am not a doctor, I have zero medical training. I make mistakes. I'm assuming you're going to read this document http://www.heartfixer.com/AMRI-Nutrigenomics.htm and the links in this post #18 http://www.latitudes.org/forums/index.php?showtopic=3928&page=2, if possible, get your mom to read it too - before you start any supplement program. Since I have no idea what medications, supplements or diet you're on, you need to be your own advocate and take all these things into consideration. But I'm hoping that the following will get you to a place where you will feel better enough to then be able to study more of this on your own.

 

If I were you, (again, not knowing how your medications and medical conditions come into play here), I'd spend a few weeks treating CBS first.

1. For CBS, I'd add molybdenum and avoid/restrict foods & supplements that are high in sulfites (see heartfixer doc for specifics)

(buy the liquid form http://www.holisticheal.com/molybdenum-drops.html so you can easily adjust dosing). Molybdenum helps your body break down sulfites into sulfates. Read the heartfixer link in the paragraph above for dosing info and other suggestions. You can go to the fist page and click on the CBS hyperlink and it'll bring you right to the CBS section.

 

You can pursue the ammonia component of CBS if you want - I did not. So I can't advise on that part, other than to caution you on at least one of the supplements Yasko suggests - Yucca - which raises estrogen. I personally wasn't comfortable with the supps she suggests for ammonia. If you use any, make sure you have the energy to research side effects, contraindications, etc. I've read that Yasko is chaging her views on CBS and ammonia but I don't know what she now recommends.

 

2. After 2-3 weeks, if you feel you can't wait as long as Yasko recommends, then I'd treat MTHFR. You need to add both methylfolate and methyB12 for this snp. Given how sick you are, I'd start with drops so you can start at super low doses and then build up. If you've been sick a long time, you're body will probably go thru a lot of detox, so don't jump in at adult doses right off the bat. I use this http://www.holisticheal.com/methylmate-b-nutritional-supplement.html I'd start with one drop/day for at least a week and then titer up slowly based on how you feel. At the same time, consider adding this http://www.amazon.com/Source-Naturals-MethylCobalamin-Flavored-Sublingual/dp/B001G7R8J2/ref=sr_1_1?s=hpc&ie=UTF8&qid=1377298454&sr=1-1&keywords=methylcobalamin It's strictly methylB12 and you may find you do better on a blend of methyl and hydroxyB12 down the road (Perque is a brand Yasko once recommended as a good blend but now she has her own supplements). For now, given your extreme fatigue, I'm gonna guess methylB12 w/o a blend will help. You may even find you do better on more than one sublingual, maybe 2-3 times a day. But try to avoid taking in the evening. B12 is an energy vitamin. You don't want it causing insomnia. This is all trial and error. If you can find a doctor who will help, that's great. I only write these suggestions in case you con't find a doctor. One note of caution - any doctor who wants to put you on a high dose of anything right away - question them. Think of yourself as a rusty 'ol car and you're going to need some TLC before you're ready for drag racing. You may end up on a very high dose - in the mg range. But start in the very low mcg range and give yourself months to build up. Go slow. I can't say it enough. Go low and slow. If you start to not feel right, stop. Wait a few days, then re-start at a lower dose. No medals given for speed.

 

3. Next up I'd suggest tackling VDR - this is the gene that helps your body convert Vitamin D into dopamine. Being VDR +/- and COMT -/-, you should be able to tolerate Vitamin D3 supplements. Because of this combo, the gurus say you're prone to running low in dopamine and that would seem to be true given your horrible depression. The "good" news is that your MAO-A means you degrade what dopamine you do have more slowly. Having MAO-A is like having a built-in MAO inhibitor. But when you do het your cycles (cogs) moving again, if you're on an antidepressant that's an MAO-I, you'll need to re-look at dosing. you may need less or none at all. When it comes to D supps, I know some docs suggest one large dose once a week (50,000 IUs). It makes more sense to me personally to do lowers doses (1,000 - 5,000 IUs) a day. It just seems more like how the body gets its needs met naturally. But that's JMHO.

 

4. With these three things treated and at a stable dosing, you may not need to do as much for the other genes. But by then, hopefully you'll feel strong enough to take a deeper look at the whole picture. I'm in no way trying to be some sort of expert or doctor. If you do find a doctor to help, disregard all of this. It's just that I know how hard it is to find medical support and if you're so disabled that you can't take on this challenge alone, these steps might help you regain enough strength that you can then become your own expert.

 

 

[PowPow]

Ophelia,

I am so glad to read all of these ideas that LLM and searching for help are offering you. I know NOTHING about these tests, but it looks like there maybe a lot of room for improvement given all these SNP's!

 

My daughter was put on a boatload of seeming very obscure supplements, when she was under the care of the integrative LLMD rheumatologist she saw before I was even on this forum. Many of these were based on her results from a Genova DetoxiGenomic panel we did (for over $400!!) and I do think the supplements helped. It is something I may address in the future, if I can make room in my brain for it.

[Guest]

Thanks so much. Printing now!!

 

Really appreciate y'all taking the time.