Another newbie begging for help on 23andme results!

[menelly]

Hi, I'm Lia. I'm 33 and have spent my whole life with Fibro, CFS, bipolar disorder, ADD, Aspergers, IBS, a history of blood clots, and probably many many more things I'm not thinking of right now due to brain fog and sheer information overload. I can't ever remember being healthy. I can't remember not being in pain or tired or... I'm sure my story is familiar to most of you. (Right?)

So, here's a list of my homozygous and heterozygous results from Livewello. I have NO CLUE which ones are important, what any of it means, and what, if anything, I can do to help myself feel better. From what I can tell following Livewello's links, my genes explain most of my issues, but I can't figure out what next? What do I do to HELP? I can't imagine "suck it up, cause it's in your genes" is the right way to go here. Any help? I'd love to feel better. Thanks!

Homozygous -
CYP4V2
F10
SOD2
SOD2 A16V
TRAF1
IFIH1 (HLA)
C3
RAG1
RAD50
GSTM3 V224I
ATG16L1
AGT M235T/C4072T
CBS A13637G
COMT H62H
COMT V158M
FOLR2
FUT2 (all 3 of them!)
GAD1
NOS3
NOS3 T786C
SLC19A1
SOD2
SOD2 A16V
MTHFD1L
PEMT
Hetero:
HLA
CETP
GP6
NR1I2
HRG
F11
F3
F9 G580A
CTH S4031I
CYP1A2 C164A
CYP1B1 L432V
CYP1B1 N453S
CYP2C9*2 C430T
CYP2C9*3 A1075C
CYP2D6 S486T
CYP2D6 T2850C
GSTP I105V
NAT2 A803G (K268R)
NAT2 G590A (R197Q)
NAT2 T341C (I114T)
IRF5
IGF1R
HLA-DQA2
MTC03P1
FCER1A
SOCS-1 -820G>T
C3
FCER1A / OR10J2P
FCER1A
TNFRSF13B
MUC21
Intergenetic
ADD1 G460W
CTLA4
IL4R Q576R
ACAT1-02
ACE Del16
CBS C19150T
CBS C699T
GAD2
MAO A R297R
MTHFD1 C105T
MTHFR A1298C
MTRR A66G
MTRR-11
NOS1
NOS3 G10T
SHMT1 C1420T
TCN2 C766G
TYMS
MTHFD1L
MTHFR rs12121543
MTHFR rs1476413
MTHFR rs3737964
MTHFR rs4846048
MTHFR rs4846049
MTHFS rs6495446
NDUFS7
NDUFS8
UQCRC2
SULT2A1
CTLA4

 

[minkeygirl]

There is a specific forum for this stuff. You should post this there.

http://forums.phoenixrising.me/index.php?forums/genetic-testing-and-snps.12/

 

[menelly]

Am I not in that forum? I thought I was...

 

[minkeygirl]

Oh you are. Hahah! Duh! There is my ME brain at work. Scuze me!

 

[menelly]

I know CFS is Chronic Fatigue. I know FM is fibro. What's ME? I can't seem to make heads or tails of what that stands for? Thanks.

 

[minkeygirl]

Myalgic encephalomyelitis. I'm too foggy to explain the difference, but ME has more cognitve issues

 

[menelly]

Thanks! Never heard of it. Now I have some reading to do while hoping to hear back from Experts Via Experience on my SNP's.

 

[minkeygirl]

CFS has been called ME everywhere in the world except the US. Google it.

 

[Valentijn]

I know CFS is Chronic Fatigue.

CFS is not "Chronic Fatigue" - CFS is "Chronic Fatigue Syndrome", of which chronic fatigue is a single symptom. Most people with ME/CFS probably would not consider fatigue to be their most prominent symptom, and personally I wouldn't describe any of my symptoms as "fatigue".

 

[minkeygirl]

My understanding is that ME and CFS are two separate diseases. I have ME and fatigue is my number one symptom. We are all different in how the disease affects us.

 

[Erik Johnson]

Documentary "I Remember Me"

The description in the newspapers in the beginning of the video are perfectly accurate.

 

[minkeygirl]

I own this. Got it when it first came out. This is short and too the point.

 

[taniaaust1]

Myalgic encephalomyelitis. I'm too foggy to explain the difference, but ME has more cognitve issues

Not necessarily so. There are many different subgroups which come under CFS, it is quite possible that someone could have not ME but have more cognitive issues then some who do have ME or visa versa.

ME is a different illness thou often lumped with CFS. CFS usually isnt as extensive as ME and doesnt have as wide a range of symptoms, for those who have ME, graded exercise therapy can be quite harmful as there are negative things which happen in the body with exercise. For anyone who wants to know the difference.. I suggest to read the ME international consensus criteria. http://sacfs.asn.au/download/International Consensus Criteria.pdf

Anyone who has been diagnosed with "CFS" should work out what definitions of things they fit under so to better know what and what they shouldnt be doing with their illness. Note "Chronic Fatigue" is something which happens with lots of illness eg cancer or even something in obesity and isnt the same as CFS either.

 

[menelly]

Thanks! I appreciate the education very much.

 

[menelly]

Does anyone have any information on my question though? Which SNP's are important? How I can feel better? Etc? Thanks!

 

[Critterina]

Lia,
I am no expert here, and there are a lot of your mutations that I don't even know what they are. But there are a few that I recognize

Homozygous -
COMT H62H
COMT V158M
NOS3
SOD2
SOD2 A16V
PEMT
Hetero:
ACE Del16
CBS C699T
MAO A R297R
MTHFR A1298C
MTRR A66G
SHMT1 C1420T

Below is my sort-of stream-of-consciousness thoughts. Essentially, I would say that you'll want to consider supplementing with methylfolate and when you have done that for a while, add some hydroxycobalamin (a form of B12). With both, start will a small amount (you can open capsules or crush tablets and just try a tad) and increase to something you're comfortable with, like a whole tablet. The methylfolate should be swallowed on an empty stomach and the B12 should be absorbed sublingually or through the gums/inner cheek.

More detailed stream-of-consciousness comments.
The COMT and MAO A mean that you may be sensitive to supplements that contain methyl groups - maybe, maybe not, but it's something to watch for. You might have to start very slowly with them.
There's a lot of buzz about the C699T that's based on a misreading of the research. Some people have problems with sulfur, some don't, but it's not because of this mutation. It may be due to a mutation of the SUOX gene, but 23 and me doesn't report it. You have to go browse the raw data for individual rs numbers. If you're up to it, we can tell you what to look for.
The SHMT1 has not been studied with your set of other mutations. It affects people who have the MTHFR C677T, but those of us who are hetero for MTHFR A1298C - we just don't know. It's possible that folinic acid (not folic acid) will help. I take it. I think it helps. It's not where to start, though.
MTHFR A1298C - I'm hetero for this too. It means that you may benefit from methylfolate (like Solgar Metfolin) supplements. I would start with here, and start slowly. It will help you activate the enzyme that makes serotonin and dopamine and may help with mood swings.
MTRR - means you'll probably do well supplementing with B12. I wouldn't use the B12 that's cyanocobalamin that is so common but not natural. Probably hydroxycobalamin will be good for you. Methylcobalamin may work, but also may make you feel worse, have more mood swings, or you might feel great and then crash. One thing that supplementing one of these B12s will do is to speed up how fast you use up methylfolate. So, if you start with methylfolate then add hydroxycobalamin, you might find that you need to increase the methylfolate after a bit. I am homozygous, so I may have had a bigger response that you will: I got sores in the corners of my mouth and acne on my face and scalp that didn't go away until I increased the methlylfolate. You can search this website for "paradoxical folate deficiency" or "donut hole" and find out more about this phenomenon.
NOS3 - I have three homozygous mutations in this gene and one hetero, too. I'm not sure exactly what is what with this. One mutation is associated with open-angle glaucoma in women who use hormone therapy post menopause. Another is associated with increased risk of rheumatoid arthritis and cardiovascular mortality. What is really going on, I don't know. In my mind it is associated with cold intolerance and my fingernails turning blue at fairly normal room temperatures, since nitric oxide keeps your blood vessels dialated. And I think adenosylcobalamin helps - but I could be wrong there. Anyway, it's not the first thing to try.
SOD - There's a forum on this. Read what others have said at http://forums.phoenixrising.me/index.php?threads/sod2-a16v-homozygous-mutation-anyone-else.23147/
ACE Del 16 and PEMT - I have those too, but don't know what to do about them, if anything. I have several PEMT mutations. I hope someone knows what to do and will come along.
Good luck and I hope you do feel better soon.

 

[menelly]

Thanks so much! I really appreciate the run down. I've been researching the low sulfur diet idea and it's already sounding like no fun at all, so if that's based on a misreading of the research, that's awesome. Cause that sounded yuck. I'm happy to go look for the SUOX thing, cause I'm not seeing it on Livewello anywhere, but yeah, I'd need to be told where to look!

I've been taking a methylfolate/methylB12 supplement, and it doesn't appear to be helping much. I don't know if I need to up the dose or if I am being sensitive to it, or what, but it doesn't seem to be doing much of anything. Maybe I'll try taking two tomorrow, just to see if it helps? Or 1.5? I don't know...

I think I may make an appointment with a local naturopath, see what he thinks of my results. Thanks so much for your help! I really do appreciate your time on that!

 

[Critterina]

So, yes, that research was good but misinterpreted. That said, some people do have sulfur problems. I did a low sulfur diet for 7 days. You are right - it is no fun. I felt a whole lot better, but that's really because a low sulfur diet cuts out a lot of everything - I mean, gluten, histamine, soy, dairy, anything that anyone may have trouble with. So, yes, it's a pain, but if a dietary change is going to help you, chances are the low sulfur diet will help. I just wouldn't stay on it too long as it's hard to get much protein on it. But if it doesn't help, I'm guessing that you can stay on your normal diet.

If you can tolerate the methylfolate/MB12, yeah, go ahead and try two of the methylfolate. Just try increasing one type of supplement at a time. That's the key to everything - just make one change at a time. Or if you're like me, you'll end up mis-attributing whatever happens to the thing that didn't cause it. And it's so hard to get those incorrect ideas out of your thinking.

Good luck with the naturopath! It's hard to find people who know this area thoroughly. I seem to be histamine intolerant, so I asked my allergist if he could diagnose and treat that condition. He called me to say that there is no diagnosis and no treatment...but if you search on this site, there are references to articles that describe both. I've sent them to him, now I just have to see what he thinks when he reads them. This site has been the biggest help to me.

The SUOX mutations are at these rs #s:

rs11171718 (A = 4%)
rs705703 (T = 2%, TT = 0)
i5000977 (A is normal)
i5000976 (A is normal)

 

[taroki]

Wow, you've got the exact same ailments as me! Except for the blood clots (that I know of).

Just curious, what are your 23andMe results like? Mine are here : http://forums.phoenixrising.me/inde...ts-my-story-of-depression-and-recovery.26192/

 

[PennyIA]

My understanding is that ME and CFS are two separate diseases. I have ME and fatigue is my number one symptom. We are all different in how the disease affects us.

Guess it depends on where you live. Here in the US, getting diagnosed with ME will never happen. If you get a diagnosis at all, it will be under the CFS bucket. It's only outside the US that you have two distinct diagnosis terminologies.

To be perfectly honest, I wouldn't doubt a bit that there aren't probably a DOZEN or more different conditions that are already testable and treatable but the patients are getting lumped under ME/CFS because the doctors beleive it's in their patients heads and don't bother to try to find a true source. And I also wouldn't doubt a bit that in a hundred years or so, we won't discover a DOZEN or more different conditions that are currently ME/CFS because of lack of understanding of the different subtypes - because our symptoms are unexplained and similar - we'll all be lumped together until we learn more.