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A Question For Those Who Have A MTHFR Gene Mutation
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Is your red cell count (and associated red cell test numbers) almost always in the normal range?
Yes.
70%
 70%  [ 7 ]
Usually, but occasionally they're low.
10%
 10%  [ 1 ]
Frequently (but not most of the time), they're low.
0%
 0%  [ 0 ]
No, most of the time they're low.
0%
 0%  [ 0 ]
No, they're almost always low.
10%
 10%  [ 1 ]
No, they're occasionally high.
0%
 0%  [ 0 ]
No, they're frequently high.
0%
 0%  [ 0 ]
No, they're almost always high.
10%
 10%  [ 1 ]
I'm not aware that I have any MTHFR gene mutations.
0%
 0%  [ 0 ]
Total Votes : 10

Author Message
Lilja
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Norway

Joined: 25 Aug 2014

Posts: 894
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Food Intolerances : Gluten, casein, soy
Location: Oslo

PostPosted: Wed Nov 12, 2014 9:07 am    Post subject: Reply with quote

Hi,

Red blood cell counts... I can't find it on my test sheet. Is it erytrocyts? Why do we want to know if we have a gene mutation?

("There is no such thing as dumb questions")

Very Happy

Lilja
_________________
Collagenous Colitis diagnosis in 2010
Psoriasis in 1973, symptom free in 2014
GF, CF and SF free since April, 2013
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irisheyes13
Adélie Penguin
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Joined: 28 Jan 2011

Posts: 212
User's local time:
2017 Nov 19 - 4:31 PM


Food Intolerances : Gluten, Casein, Soy, Eggs & Yeast so far...
Location: Pittsburgh, PA, United States

PostPosted: Wed Nov 12, 2014 10:15 am    Post subject: Reply with quote

Hi Tex,
I wish I could say my absence from the board has been due to good health. Unfortunately that isn't the case. I spend far too much time trying to uncover my health issues by way of different health care providers (MD's, ND's, acupuncture, massage therapy etc) and testing. My job is very demanding and family keeps me very busy too so I don't spend a ton of time on the internet.

My last colonoscopy earlier this past summer showed no evidence of MC (CC) which was the last thing I expected because I have had consistent diarrhea for over 12 years now. I assumed it would still be very active. I requested that they stain slides to assess any possible histamine issues but this was negative as well. I guess a clean diet has assisted with healing one aspect of health issues. I eat primarily Paleo with some rice (and probably a few too many Paleo treats).

I've been undergoing treatment for severe adrenal fatigue, dysbiosis, SIBO, pancreatic insufficiency, autoimmune thyroid disease and low hormones across the board. It's amazing when you finally land a functional medicine physician who "gets it" and views attacking your treatment as a team. She is always open to my thoughts and ideas and doesn't dismiss any of my symptoms... now if only I could get myself out of this very deep rabbit hole.

I've tried LDN for a short period of time but didn't notice much improvement. We've put this treatment on hold for the time being due to the focus of building adrenals back up but may go back to it. Next up may be home FMT to address dysbiosis if I can find a suitable donor. Good times. Rolling Eyes

I hope all is well with you and everyone here at PP. I'm sorry I haven't given an update recently.
_________________
Kelly

Believe deep down in your heart that you are destined to do great things~ Joe Paterno
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tex
Site Admin
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Joined: 24 May 2005

Posts: 30710
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2017 Nov 19 - 3:31 PM


Food Intolerances : Gluten, casein, soy, and avenin, (avenin is the prolamin in oats, which is equivalent to the gluten in wheat), beef, grapes, peanuts, cashews, almonds, (but nut butters seem OK except for peanuts), citric acid, chocolate, and agar.
Location: Central Texas

PostPosted: Wed Nov 12, 2014 11:46 am    Post subject: Reply with quote

Lilja wrote:
Red blood cell counts... I can't find it on my test sheet. Is it erytrocyts? Why do we want to know if we have a gene mutation?


Yes, red bood cells are actually erythrocytes (in English). Most people in this country only know them as red blood cells, but erythrocytes is the medical name for them.

That's a good question (about these gene mutations). MTHFR stands for Methylenetetrahydrofolate reductase, which is an enzyme used in the methyl cycle. Most people are not familiar with the methyl cycle, and it's actually a rather complex biochemical process, so let's just say that the methyl cycle is the supporting framework for our physical well-being. Whether or not it is functioning properly determines whether or not we have "normal" resistance to environmental pathogens or toxins. At any rate, a defect at any point in this network of cycles will inevitably affect the remaining processes, and our overall health will suffer as a result. Methyl cycle abnormalities/defects explain why we may be sick due to environmental toxins while no one else in the neighborhood seems to be affected. And though we may not be able to change our DNA, if we know our weak links then we may be able to work around the problems, by devoting proper attention to our special nutritional needs.

Most of us are already treating some of these special needs by withholding from our diet certain food peptides that we cannot properly digest. There's a possibility that the need to avoid certain food sensitivities may be prima facie evidence that we have MTHFR gene irregularities. The main point of all this is that it appears that methyl cycle abnormalities predispose us to health problems. So the bottom line is that if we do not address the issues caused by any methyl cycle abnormalities that we may have, then some of these issues may be contributing to any unexplained or chronic health issues that we are experiencing.

But to get back to the biochemical reason for the existence of MTHFR in the first place, methylenetetrahydrofolate reductase catalyzes (causes or accelerates) the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is a cosubstrate for homocysteine, which is then remethylated to create methionine. Though rather complex, in essence this refers to the way that vitamin B-9 (folate or folic acid) is processed in the body. If those methylation processes are not successfully completed, then intermediate products (such as homocysteine) can cause major health problems. Defects (or genetic variations) of the MTHFR gene are associated with a deficiency of methylenetetrahydrofolate reductase enzyme, and that deficiency may increase susceptibility to problems such as occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, colon cancer, and acute leukemia, for example. There are probably many other associations that have not yet been discovered.

To get to where the rubber meets the road, if we happen to have certain MTHFR gene defects, we cannot properly convert the common sources of folic acid found in food and supplements. As a result they not only provide no benefits for us, but these inactive forms of folate can build up to toxic levels in the body. To deal with this, we have to avoid conventional sources of folic acid (many foods are "fortified" with it), and we have to supplement our diet with the active form of folic acid, known as L-methylfolate in order to supply our needs. And of course there are other nutritional issues that may need to be addressed, but the description that I have presented here at least describes the basic problem of MTHFR gene defects.

I hope that this is helpful.

Tex
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cowboy

It is suspected that some of the hardest material known to science can be found in the skulls of GI specialists who insist that diet has nothing to do with the treatment of microscopic colitis.
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tex
Site Admin
Site Admin


Joined: 24 May 2005

Posts: 30710
User's local time:
2017 Nov 19 - 3:31 PM


Food Intolerances : Gluten, casein, soy, and avenin, (avenin is the prolamin in oats, which is equivalent to the gluten in wheat), beef, grapes, peanuts, cashews, almonds, (but nut butters seem OK except for peanuts), citric acid, chocolate, and agar.
Location: Central Texas

PostPosted: Wed Nov 12, 2014 12:36 pm    Post subject: Reply with quote

Kelly,

There are a lot of problems with the way that the medical community diagnoses MC (to say nothing of their treatment methods). The problem with their diagnostic criteria is that if our lymphocyte count falls below 20 lymphocytes per high-power field (under a microscope), then that no longer meets the criteria for a diagnosis of MC. But the problem is that a biopsy sample from a normal colon will only show 5 to 10 lymphocytes, at the most. So the spectrum between 10 and 20 lymphocytes per high-power field, is "no man's land". It's not normal, and technically (due to the arbitrarily-written diagnostic criteria), it's not diagnostic of MC. It's a hole that many of us fall through as we begin to heal. We still react, but our confused GI doc insists that we don't have MC. Rolling Eyes

The odds are pretty high that your lymphocyte count has fallen into that range, because of your diet. But something may be preventing the count from falling back down into the normal range. All of the issues that you are currently treating are almost surely due to your MC.

Having that many issues raises a question in my mind. Have you checked your vitamin D level lately? It needs to be well up in the sufficient range for anyone who has MC. We need more vitamin D than "normal" people, because the MC rapidly depletes our vitamin D level. And as our vitamin D supply goes down, this causes all sorts of other autoimmune issues to become active. This is so important that I've written a book about Vitamin D and Autoimmune Disease. It's available on Amazon in either digital or printed form, and from most other booksellers in digital form, but I'll be happy to email you a free digital copy if you will tell me what type of digital reader you have (they all use different formats), or I can email you a PDF version of the book that you can read on a PC or any other device that uses Adobe Reader or any other PDF reader.

My take on LDN is that it seems to work relatively well for many AI diseases, but for some reason or other, very few MC patients have found that it is helpful for resolving MC. For some of us, for whom other AI issues have been preventing us from reaching remission with MC, LDN can be helpful. But for MC itself, LCN doesn't seem to be able to resolve our symptoms in the majority of cases.

Regarding fecal transplants, more than a few members here have tried those treatments (some have tried them many times), but so far at least, absolutely no one has had any success with them for treating MC. Those transplants are great for treating C. diff, and possibly other intestinal infections, but unfortunately they appear to be useless for treating MC. And with MC, the dysbiosis is typically caused by the MC itself (rather than the other way around), so when the MC is successfully treated, the dysbiosis (and all the other satellite issues) are virtually always resolved, also.

Other than a couple of recent kidney stone incidents, I seem to be doing OK, thanks. And thank you for the update. Please let me know if you want a copy of the vitamin D book.

Tex
_________________
cowboy

It is suspected that some of the hardest material known to science can be found in the skulls of GI specialists who insist that diet has nothing to do with the treatment of microscopic colitis.
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irisheyes13
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Joined: 28 Jan 2011

Posts: 212
User's local time:
2017 Nov 19 - 4:31 PM


Food Intolerances : Gluten, Casein, Soy, Eggs & Yeast so far...
Location: Pittsburgh, PA, United States

PostPosted: Wed Nov 12, 2014 3:01 pm    Post subject: Reply with quote

Thanks for your thorough explanation Tex. I'm very consistent with my Thorne Vitamin D/K2 drops daily. My vitamin D level hovers right around 60 (ranges 55-70) in the last 2-3 years. It doesn't seem to effect how I feel but my thyroid antibodies have been slowly coming down but it is taking years.

Regarding my colonoscopy, it was performed by the same group who has done my last 2 which were positive however I don't know about the radiologist. He is one of the top GI's, certainly in Pittsburgh and probably beyond but again, he's a GI. If I have colon or liver cancer, he's my guy but beyond that I don't have much need for him. I wouldn't be surprised if I still have inflammation and I'm addressing it with diet and supplements. I haven't had much luck with pharmaceuticals. Stress is the one component of healing I can't seem to get control over and it's probably the most important. Sad I need a new job or better yet, I need to hit the lottery. Cool

I wasn't expecting miracles with LDN. The main thought was to help bring down my thyroid antibodies and keep my migrating motor complex moving. I was having side effects and we weren't sure what it was coming from with all the supplements I was on so we stopped LDN for now (although I don't think it was LDN that was the cause.)

I'm not thrilled about tackling home FMT but I would love to hear your thoughts on correcting dysbiosis via successfully treating MC. I have your book by the way and it's great. I bought it on Amazon when it was first released. I was unaware of your vitamin D book. I would love a pdf version for an Ipad or regular PC. Thanks!

I'm so sorry to hear about your kidney stones... I've never experienced them but hear they are seriously painful. Eek. Glad you are on the mend.
_________________
Kelly

Believe deep down in your heart that you are destined to do great things~ Joe Paterno
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tex
Site Admin
Site Admin


Joined: 24 May 2005

Posts: 30710
User's local time:
2017 Nov 19 - 3:31 PM


Food Intolerances : Gluten, casein, soy, and avenin, (avenin is the prolamin in oats, which is equivalent to the gluten in wheat), beef, grapes, peanuts, cashews, almonds, (but nut butters seem OK except for peanuts), citric acid, chocolate, and agar.
Location: Central Texas

PostPosted: Wed Nov 12, 2014 10:27 pm    Post subject: Reply with quote

Kelly,

I sent you 3 files (using the email address listed at the bottom of your post). Hopefully they will work on your machines. If you can't open them, or that's an obsolete email address, please let me know.

Actually, I don't have a long, detailed analysis of how dysbiosis is associated with MC, but generally speaking, many/most of us have dysbiosis at one time or another while we are reacting. When MC develops, digestion becomes so compromised that many foods are only partially digested. This allows opportunistic bacteria to thrive as they ferment the partially-digested food, producing gas, bloating, cramps, and D. This most commonly occurs in the colon, because the chyme (partially-digested food) moves much faster through the small intestine, and so it doesn't allow much time for fermentation to occur, but dysbiosis can sometimes occur in the small intestine, especially if the cecum fails to work properly, allowing bacteria from the colon to back-flow into the small intestine.

As we begin to recover, and our digestion improves, those bacteria colonies are slowly starved out by the loss of the partially-digested food that once supported them, and our gut bacteria profile slowly returns to normal (normal for the specific foods that we include in our diet). Major shifts in our diet can result in major shifts in gut bacteria population demographics (different types of bacteria prosper, while once-dominant species tend to depopulate). But that's not dysbiosis. Dysbiosis, as you are well aware, only occurs if the species that take over cause adverse consequences.

The main thing that bothers me about treating dysbiosis is the fact that over the years, many members here have described how they (and their doctors) have tried to treat dysbiosis by using either this antibiotic or that one, but I don't recall anyone who actually ever noticed any improvement in their condition for more than a few days by doing that. Many GI docs recommend treatments with rifaximin for that purpose, for example, and a few members have gone through that treatment 2 or 3 times, but each time the benefits never lasted longer than a few days.

IMO, this is because the bacteria are not the cause of MC. Instead, MC is the cause of the poor digestion that allows these bacteria to prosper, and therefore they are there because of the MC (not the other way around). And that's why killing those bacteria will not "cure" the MC (because the bacteria didn't cause the MC in the first place).

At least those are my thoughts on the futility of trying to treat dysbiosis with antibiotics when MC is active. Diet always has a major effect on gut bacteria populations, but antibiotics only disrupt bacteria populations temporarily. And while antibiotics can cause major long-term damage to synergistic bacteria populations, the effect of antibiotics on pathogenic bacteria is usually transient, because they tend to bounce right back, as long as the overall state of our digestive environment hasn't significantly changed (and the Catch-22 part of it is that our digestive environment won't significantly change until the inflammation is eliminated, so that normal digestion can return, and that will put an end to our MC symptoms).

I hope that some of this is helpful.

Tex
_________________
cowboy

It is suspected that some of the hardest material known to science can be found in the skulls of GI specialists who insist that diet has nothing to do with the treatment of microscopic colitis.
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Lilja
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Norway

Joined: 25 Aug 2014

Posts: 894
User's local time:
2017 Nov 19 - 9:31 PM


Food Intolerances : Gluten, casein, soy
Location: Oslo

PostPosted: Thu Nov 13, 2014 10:38 am    Post subject: Reply with quote

tex wrote:


And of course there are other nutritional issues that may need to be addressed, but the description that I have presented here at least describes the basic problem of MTHFR gene defects.

I hope that this is helpful.

Tex


Thank you, Tex. I will have to read this several times to get the full understanding of it.

Lilja
_________________
Collagenous Colitis diagnosis in 2010
Psoriasis in 1973, symptom free in 2014
GF, CF and SF free since April, 2013
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Zizzle
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Food Intolerances : gluten, dairy, soy, sesame seeds, buckwheat, amaranth, walnuts, peppers, CORN!

PostPosted: Tue Nov 18, 2014 4:01 pm    Post subject: Reply with quote

OMG!! Just got my 23 and me results! Haven't gotten to the health stuff yet, but I am about to blow my family away!! My grandfather who was adopted in Chicago and went on to become a very high profile Protestant Minister was in fact.... an Askenazi JEW!!!!!!!!!!!!!!!!!

He always wondered if he might be jewish based on his looks. I just confirmed it! HOLY COW!!

I can tell because my grandma was 100% Swedish and both my maternal grandparents were 100% Guatemalan (native american and perhaps some southern european)

Quote:
Ancestry Composition tells you what percent of your DNA comes from each of 31 populations worldwide. This analysis includes DNA you received from all of your recent ancestors, on both sides of your family. The results reflect where your ancestors lived before the widespread migrations of the past few hundred years.


71.4%
European

Northern European
12.6%
Scandinavian
6.5%
British & Irish
1.6%
Finnish
11.3%
Broadly Northern European

Southern European
7.3%
Iberian
0.1%
Sardinian
12.6%
Broadly Southern European
12.6%
Ashkenazi

6.8%
Broadly European
24.4%
East Asian & Native American
18.6%
Native American

East Asian
0.2%
Broadly East Asian
5.6%
Broadly East Asian & Native American
1.9%
Sub-Saharan African
1.8%
West African
0.1%
Broadly Sub-Saharan African
< 0.1%
Oceanian
2.4%
Unassigned
_________________
1987 Mononucleosis (EBV)
2004 UCTD post-partum
2009 Lymphocytic Colitis
2010 GF/DF/SF Diet
2012 Dermatomyositis
2013 Modified Paleo Diet
2014 Low Dose Naltrexone
2015 Megaspore and Culturelle probiotics
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Deb
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unknown IP

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2017 Nov 19 - 3:31 PM


Food Intolerances : Gluten, still determining others
Location: Minnesota

PostPosted: Tue Nov 18, 2014 5:56 pm    Post subject: Reply with quote

Interesting, isn't it Zizzle? Are you electing to communicate with your relatives? I haven't yet (I'm a paranoid internet user) but may change my mind!
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Zizzle
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Food Intolerances : gluten, dairy, soy, sesame seeds, buckwheat, amaranth, walnuts, peppers, CORN!

PostPosted: Tue Nov 18, 2014 10:13 pm    Post subject: Reply with quote

Got my genetic genie analysis! I don't have the worst MTHFR mutations, but the ones I do sure explain a lot!! They explain my organic acids urine test abnormalities in neurotransmitters, potential metabolic acidosis, etc. Wow!!

QUOTE:

You have 2 heterozygous (yellow) mutation(s). These are generally not as bad as red homozygous mutation, but they may still worth paying attention to. They include:

MTHFR 03 P39P
MTHFR A1298C

Now let's move on to discuss what these MTHFR mutation(s) mean.
MTHFR 03 P39P
There is currently not enough research or data to draw conclusions from this SNP.

MTHFR A1298C
MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, the A1298C mutation does not lead to elevated homocysteine levels. This reaction helps generate BH4. BH4 is important for the detoxification of ammonia. The gene is compromised about 70% in MTHFR A1298C (+/+) individuals, and about 30% in people with a heterozygous (+/-) mutation.

BH4 acts as a rate limiting factor for the production of neurotransmitters and catecholamines including serotonin, melatonin, dopamine, norepinephrine, and epinephrine. A MTHFR A1298C + status may cause a decrease in any of these neurotransmitters or catecholamines. BH4 is also a cofactor in the production of nitric oxide. A dysfunctional BH4 enzyme may lead to mental/emotional and/or physical symptoms. Mercury, lead, and aluminum may act as a drain on BH4.
_________________
1987 Mononucleosis (EBV)
2004 UCTD post-partum
2009 Lymphocytic Colitis
2010 GF/DF/SF Diet
2012 Dermatomyositis
2013 Modified Paleo Diet
2014 Low Dose Naltrexone
2015 Megaspore and Culturelle probiotics
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ldubois7
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Joined: 19 Feb 2013

Posts: 1269
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2017 Nov 19 - 3:31 PM


Food Intolerances : Gluten, dairy, eggs, soy
Location: Pennsylvania

PostPosted: Wed Nov 19, 2014 8:11 am    Post subject: Reply with quote

Zizzle,

I went to the 23 & me website. So, there are 2 tests...one DNA and the other health? But, the latter is not available because? Did you do both?

What were you hoping to gain by doing the DNA?

My husbands father was adopted. When he passed away a few years ago, my husband tried to find his bio grandfather, but was unable. Would this be a good Christmas gift for my husband????

Thanks!
_________________
Linda :)

LC Oct. 2012
MTHFR gene mutation and many more....
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Zizzle
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Food Intolerances : gluten, dairy, soy, sesame seeds, buckwheat, amaranth, walnuts, peppers, CORN!

PostPosted: Wed Nov 19, 2014 9:31 am    Post subject: Reply with quote

Linda,
23&Me is no longer allowed to provide medical interpretation on their data, so you have to upload your raw data from them onto another website. Genetic Genie will analyze your methylation mutations for free, whereas others charge a small fee for a complete health-related report (LiveWello or Promethease). I think it would be a fun gift for your husband, because you learn a lot about your ancestry and can even connect with other 23andMe members that might be related to you. Males can get their paternal Haplogroup, which will be especially informative about his father. I could only get my mom's, and she's 100% Guatemalan, so not too exciting.

Here's a good link explaining the various mutations related to methylation. Apparently I should have ADHD and mood swings!

http://snpedia.com/index.php/Yasko_Methylation
_________________
1987 Mononucleosis (EBV)
2004 UCTD post-partum
2009 Lymphocytic Colitis
2010 GF/DF/SF Diet
2012 Dermatomyositis
2013 Modified Paleo Diet
2014 Low Dose Naltrexone
2015 Megaspore and Culturelle probiotics
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Zizzle
King Penguin
King Penguin


Joined: 22 Jul 2010

Posts: 3483
User's local time:
2017 Nov 19 - 4:31 PM


Food Intolerances : gluten, dairy, soy, sesame seeds, buckwheat, amaranth, walnuts, peppers, CORN!

PostPosted: Wed Nov 19, 2014 10:39 am    Post subject: Reply with quote

I think my issues may boil down to low BH4, which appears to cause Mast Cell Activation.

http://geneticgenie.org/blog/2013/01/31/mast-ce...e-in-methylation/
_________________
1987 Mononucleosis (EBV)
2004 UCTD post-partum
2009 Lymphocytic Colitis
2010 GF/DF/SF Diet
2012 Dermatomyositis
2013 Modified Paleo Diet
2014 Low Dose Naltrexone
2015 Megaspore and Culturelle probiotics
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ldubois7
Rockhopper Penguin
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Joined: 19 Feb 2013

Posts: 1269
User's local time:
2017 Nov 19 - 3:31 PM


Food Intolerances : Gluten, dairy, eggs, soy
Location: Pennsylvania

PostPosted: Wed Nov 19, 2014 11:37 am    Post subject: Reply with quote

Thanks, Zizzle! Cool
_________________
Linda :)

LC Oct. 2012
MTHFR gene mutation and many more....
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Gabes-Apg
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Joined: 21 Dec 2009

Posts: 7210
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2017 Nov 20 - 7:31 AM


Food Intolerances : Gluten, Yeast, Caesin, Soy, salad/raw veges and fruit
Location: Hunter Valley NSW Australia

PostPosted: Wed Nov 19, 2014 9:50 pm    Post subject: Reply with quote

Linda
I just sent my 23andme saliva test off today.

as Zizzle mentions, 23andme can no longer provide a 'full health report' albeit thanks to sites like genetic genie once you can expand the base info from the 23andme genetic report, and research health issues.

Once you start googling the results that apply to you, it is easy to find information/studies/ articles that will provide information as to what that gene mutation (s) mean regarding health etc.

Quite a few of the MTHFR info sites, Thyroid sites etc mention gene mutations that are linked to issues.

In cases like Zizzles, I dont think there is an available (or affordable) blood test that would provide the same info regarding that gene mutation, its linkage to methylation issues and the BH4 and its impact on her mast cell issues.
_________________
Gabes Ryan

"Anything that contradicts experience and logic should be abandoned"
Dalai Lama
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