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Tested positive: heterozygous MTHFR 1 copy of A1298C variant

 
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WhirledPeas
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2017 Sep 20 - 7:44 AM


Food Intolerances : Gluten, dairy, soy, eggs, high fiber, raw produce w/ exceptions pre- May 1 severe flare. 2013 I tested only sensitive to gluten/dairy. C1 test showed some items in 1 category like rice which never bothered me in past.

PostPosted: Wed Aug 30, 2017 7:07 pm    Post subject: Tested positive: heterozygous MTHFR 1 copy of A1298C variant Reply with quote

Hi all,

I'm making up for lost time (ha), so this is a long post. I've been productive and proactive to get well. PT twice a week nearby to keep my muscles strong and looser and once in awhile a lovely massage from a incredible lady who is in remission from ulcerative colitis (synchronicity!) Also, went to the dentist yesterday and no cavities and guess what? The hygienist also has MC and is in remission! (synchronicity!) FIRST person I've ever met IN PERSON with the same condition. Same for her. We exchanged emails. :) :)

It's been a rocky time since I was last on here, but happy to say I am less miserable/anxious than before. Sometimes it's hard to tell progress when it's so slow. My main issues now are: gastritis that gets worse with each meal especially after an early dinner, acid reflux (very sore throat/nasal passages, but no heartburn) and fatigue. Beyond baked turkey tenderloins in EVOO, boiled yellow potatoes, I have added very steamed organic carrots in last two weeks and roasted organic chicken breast in last 5 days for one meal a day (cooked with skin and bones to add more flavor). Baby steps. Haven't had painful acidic belching in about two weeks since stopping ZANTAC 150 per new primary care doctor that I really like and knows her stuff! Digesting better now, but continued gastritis and reflux (elevated bed with a medical wedge which is stopping the reflux cough in the morning).

Ordered a mattress elevator to go under the mattress to elevate my head 5 inches which will be better for my back. The wedge pillow puts pressure on your tailbone/back being at that angle. If the "elevator" helps, I'd be happy to report back if anyone else is considering something to elevate their bed.

Neuropathy in feet is less as well as carpal tunnel/wrist pain (PT helps), but still have tingling in finger tips and sensitivity at the ends of my fingers but not constant. I did get a rash on legs and arms two weeks ago that is now GONE from sunbathing mid afternoon for half an hour a few days in a row trying to get Vitamin D. I'm guessing the Budesonide makes you more prone to that. Now I only go in very late afternoon.

The main reason for posting today...
++++I tested positive for heterozygous MTHFR / 1 copy of A1298C variant. My new PCP who supported me on testing for this along with every other test that Wayne recommended as well as some others. Seeing her decreased my anxiety. Now I have someone to look out for me medically. My GI did not know about any of the tests that Wayne recommended. I won't say anymore... My PCP does not know how to treat methylation issues though. She gave me the name of a local biochemist who has a radio show that she has sent other patients to for other issues (not this one). Have to find out if he knows how...

I tested through Quest Diagnostics which my insurance covers except $75. When I went to 23andme.com it said it no longer tests for MTHFR. I don't know if that means for individual gene testing or for the family history full medical DNA report. I found out my nephew's wife has TWO copies of A1298C and is being treated for this through her apparently quite knowledgable primary care doctor outside of Atlanta. Waiting to find out what her treatment is. I do know she is taking a pill that has 5,000 mcg of Methyl B12 and 1,000 mcg of active folate (5-methyltetrahydrofolate). I can't imagine taking that much methyl B12 after what I experienced the first time I used it and didn't know how to measure it properly!

I would like to share my recent blood work results to give the full picture and perhaps get some impressions/advice on whatever I mention below that you might know about. Right now I am taking 400 mcg of methyl B12 every morning before eating (sublingual liquid). I tried 1,000 mcg and it made me extremely hyperactive, nervous and could not relax. Tried 600 mcg and had less side effects, but still hyped up. I hope to try 600 mcg (3 drops) again in a week or so. On D3 2,000 IU (1,000 with breakfast and lunch) and will probably increase to 3,000 IU in a week or so.

August 7, 2017 Blood test results:

White blood cell count:
6.8 (normal)
Red blood cell count:
4.54 (normal)
MCV:
91.6 (normal)
Absolute lymphocytes:
1320 (normal)
Absolute Neutrophils:
6917 (high end of normal)
All other CBC panels, normal but mentioned these in case it's pertinent.

++++Methylmalonic Acid Test (MMA):
August: 100 (normal range: 87-318)
***Does this mean I could possibly be folate deficient later down the line because it's close to the low range of normal?
Retest in 6 months? I recall Wayne saying if it's *below* normal range, it's folate deficiency and if it's above normal range (high), it's B12 deficiency. Or perhaps it's the beginnings of deficiencies in both because of the one copy of the MTHFR A1298C variant I have?

B6:
July: 41.7 (above normal range)
August: 24.1 (normal range)

B12:
307 (2015: 362 - no supplement); 2007: 736 - not sure if I was taking B12 then)

Folate:
July: 11.1 (it says > 5.4 normal)

++++Homocysteine:
March: 14.8 (before MC flare)
August: 17.1 (3 months after start of MC flare)
***Now it seems like I know why my homocysteine is elevated. I have 1 copy of the A1298C MTHFR gene. The cardiologist thought the MC inflammation could be contributing too, but it was a guess.

Magnesium RBC:
July: 6.8 (using topical spray and nightly epsom salt baths)
August: 6.0 (only nightly epsom salt baths)

Vitamin D:
March: 50
July: 34

Vitamin A:
50 (normal)

Selenium:
128 (normal)

Cholesterol/Lipids:

August:

Cholesterol Total: 248 (March: 296 BAD)
HDL: 43 (March: 42) GOOD
Triglycerides:
142 GOOD (March: 245 BAD)
LDL: 177 (March: 205 BAD)
Cholesterol Ratio: 5.8 (March: 7.0 BAD) ***5.0 or lower normal.
Non-HDL Cholesterol: 205 (March: 254)

I participated in a heart study with a local hospital this past March when I was healthy due to my climbing cholesterol numbers in the last ten years or so (due to lower fiber diet). Two weeks ago I had an appointment to review my copious studies and blood tests with the cardiologist/researcher who heads the study. Considering my considerable drops in high numbers, my MC flare and continued altered diet that will likely continue to help my cholesterol numbers, both he and my primary suggested against a statin now. All the non-blood tests showed a healthy heart and no plaque. In 3 years he wants me to do a coronary heart scan and repeat the HS-CRP blood test in 6-12 months or when I'm feeling better MC wise. One silver lining to this terrible disease... my cholesterol numbers have dropped. No wonder considering the limited diet I am on!

You get a lollipop for reading this far. Any commentary would be appreciated especially about the MTHFR test results and other related blood testing that has to do with it including the MMA test.

Wishing you all well,

Wen
_________________
1st severe flare 5/1/17 Budesonide started 6/7/17. MC/Gastritis 5/2013; IBS/GERD 2001nobiopsy. Celiac biopsy neg2013. Protonix2001-2006.
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tex
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Joined: 24 May 2005

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2017 Sep 20 - 6:44 AM


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 Aug 30, 2017 9:26 pm    Post subject: Reply with quote

Hi Wen,

The mattress is a good idea to help with the reflux issue. Your cholesterol, and more importantly, your triglycerides, are certainly headed in the right direction. I don't claim to be an expert, but I'm pretty sure that as long as your MMA result is in the normal range, that's a good, valid result. Your vitamin D seems to be headed south. High doses of vitamin D usually help to reduce reflux problems.

It would be nice if you could find a practitioner who was qualified to advise you on what to do about that homocysteine (and B-12 and folate) in relation to the methylation issue. You may eventually have a problem with your active B-12 level, especially if you have a problem taking the conventional form (methylcobalamin). I believe I recall that there are several different forms of active B-12. You may need to look at them, I'm not really familiar with them, and I have no idea whether they are available for supplementation or if supplementation with them is even practical.

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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brandy
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Joined: 16 Oct 2011

Posts: 1912
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2017 Sep 20 - 6:44 AM


Food Intolerances : gluten, dairy, soy, corn, sugar, quinoa, rasberries, blackberries
Location: Florida

PostPosted: Wed Aug 30, 2017 9:31 pm    Post subject: Reply with quote

The Thorne Methylguard B vitamins (I took 1 per day) brought my homosysteine down from 15 to 9.9 over a 6 month period. I do not have the MF gene (I was surprised) but think I just don't absorb the standard B vitamins well due to MC.
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brandy
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2017 Sep 20 - 6:44 AM


Food Intolerances : gluten, dairy, soy, corn, sugar, quinoa, rasberries, blackberries
Location: Florida

PostPosted: Wed Aug 30, 2017 9:39 pm    Post subject: Reply with quote

I think the Thorne Methylguard is for the methylation issue. I believe the label says to take 2 pills per day. My MD/functional medical doc has me taking 1 per day.

I don't have the reflux issues but it does come up on the forum. Perhaps you can report back in 3 months on how the wedge pillow and the bed are working?

Carpal tunnel--the worst pain I've ever had in my life. I would end up submerging my fingers, hands and wrists in buckets of ice water every couple of hours to numb the pain. I did this for weeks. My hands are normal now. No surgery. I have to be careful not to overdo on keyboard.
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WhirledPeas
Adélie Penguin
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Joined: 22 May 2013

Posts: 135
User's local time:
2017 Sep 20 - 7:44 AM


Food Intolerances : Gluten, dairy, soy, eggs, high fiber, raw produce w/ exceptions pre- May 1 severe flare. 2013 I tested only sensitive to gluten/dairy. C1 test showed some items in 1 category like rice which never bothered me in past.

PostPosted: Thu Aug 31, 2017 11:06 am    Post subject: Reply with quote

Thank you for all your replies...

With getting easily fatigued, researching all this is really making me tired. It's hard to limit research to 15 minutes! My primary care doctor referred me to this biochemist, but I searched his products and I don't see anything related to MTHFR or methylation issues. He sells folic acid and not the 5-MTHF version that you all talk about. I will send an email or call them, but it's not looking like a good lead. His digestion supplements don't say anything like soy free, etc. Maybe they are, but I didn't see that listed.

http://www.1800chemist.com/

My a family member's wife has TWO copies of the C677T. I have ONE copy of A1298C. I don't know if courses of treatment are different for the variants and whether having one or two copies alters the treatment/dosages. She doesn't have an IBD or at least a diagnosed one.

Her course of treatment through her primary care doctor is:
Methyl B12 5,000 mcg and folate 1,000 mcg (5-MTHF kind) capsule once a day. (Once her levels are normalized she is going to put on Methyl CPG supplement indefinitely whatever that is.)
B12 1,000 mcg cyanocobalamin injection monthly.
D3 50,000 IU capsule once a week. (Her D level is 29; mine 34 and her homocysteine is 22.1 which is higher than my 17.1).

In May of this year...
Her B12 serum is 290. Mine was 307 in July.
Folate serum is 2.4 Below normal. Mine was midrange normal in July.
My MMA (methymalonic acid test showed me in lower end of normal range at 100 (below 87 is low). She did not test for that.

I'm going to go to something else for awhile and take a break from all this. :)

Wen

P.S. I'm scheduled for an upper endoscopy in 5 weeks and on wait list for a cancellation. Crossing fingers.
_________________
1st severe flare 5/1/17 Budesonide started 6/7/17. MC/Gastritis 5/2013; IBS/GERD 2001nobiopsy. Celiac biopsy neg2013. Protonix2001-2006.
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WhirledPeas
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Joined: 22 May 2013

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2017 Sep 20 - 7:44 AM


Food Intolerances : Gluten, dairy, soy, eggs, high fiber, raw produce w/ exceptions pre- May 1 severe flare. 2013 I tested only sensitive to gluten/dairy. C1 test showed some items in 1 category like rice which never bothered me in past.

PostPosted: Thu Aug 31, 2017 11:11 am    Post subject: Reply with quote

brandy wrote:
The Thorne Methylguard B vitamins (I took 1 per day) brought my homosysteine down from 15 to 9.9 over a 6 month period. I do not have the MF gene (I was surprised) but think I just don't absorb the standard B vitamins well due to MC.


Good for you! How much B12 is in your capsule? I don't know how to overcome the physical anxiety and hyperactivity that methyl B12 causes me beyond 400 mcg. I took cyanocobalamin liquid about ten years ago or maybe less when I was healthy and not having MC flare. Diagnosed in 2013. In 2002, diagnosed with IBS and GERD (no biopsy for MC). I did not have any hyperactivity or anxiety issues immediately after taking. Maybe my body has changed.

Yes, CTS sucks! In 2002 I had it bad. I only had annoying symptoms a few months ago after my flare. I just need to not over do it on computer or texting or coloring with pencils (which flared it awhile back). It was supposed to be a relaxing activity! Ha~

Wen
_________________
1st severe flare 5/1/17 Budesonide started 6/7/17. MC/Gastritis 5/2013; IBS/GERD 2001nobiopsy. Celiac biopsy neg2013. Protonix2001-2006.
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tex
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Joined: 24 May 2005

Posts: 30455
User's local time:
2017 Sep 20 - 6:44 AM


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: Thu Aug 31, 2017 12:05 pm    Post subject: Reply with quote

Note that folate occurs naturally in foods while folic acid is a synthetic "B" vitamin sold as a supplement and used to "enrich" certain foods. Folic acid's use is highly promoted by the government, despite the fact that it has been associated with cancer.

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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WhirledPeas
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Joined: 22 May 2013

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2017 Sep 20 - 7:44 AM


Food Intolerances : Gluten, dairy, soy, eggs, high fiber, raw produce w/ exceptions pre- May 1 severe flare. 2013 I tested only sensitive to gluten/dairy. C1 test showed some items in 1 category like rice which never bothered me in past.

PostPosted: Fri Sep 01, 2017 7:07 pm    Post subject: Reply with quote

Why in some does Methyl B12 cause major jitteriness/anxiety and hyperactivity (inability to sit still or relax)? I took cyanocobalmin in sublingual form when I was healthy maybe 10 years ago and didn't have any issues. Don't recall how much I took though. This side effect is completely different than regular anxiety or stress. The only thing I can compare it to is drinking way too much Cuban coffee, but worse. I can't handle caffeine beyond green tea and even some green teas have more caffeine than others.

Does taking folate with the methyl B12 have any kind of calming effect to negate it or any other supplement? I recall some saying they had issues trying to increase their B12 through supplements and injections. Curious what other people have experienced whether they have one or two copies of a MTHFR variant or not.

Wen

P.S. I looked closer and that biochemist sells folic acid AND the folate that everyone on here talks about. Somehow missed that product. It lists stearic acid as an ingredient and does not say soy free. Hoping I get a reply to my email inquiry. Although my nephew's wife's MD doctor in Georgia wrote her back after detailing my test results (I told her what to say) and MTHFR details and she wrote her back with her recommendations, but not amounts to take of each supplement Methyl B12, folate, Vitamin D, probiotics, fish oil gel tabs (never had luck taking those without after taste) and eventually Methyl CPG supplement after getting B12 serum level to at least 450 (I was 307 in July and 368 I think in 2015 - no supplements except a minor gummy vitamin) and folate up to 20 (I'm 11.1).

Biochemist website that my primary told me to look into. Found this folate listed: http://www.1800chemist.com/product/star-folate/
_________________
1st severe flare 5/1/17 Budesonide started 6/7/17. MC/Gastritis 5/2013; IBS/GERD 2001nobiopsy. Celiac biopsy neg2013. Protonix2001-2006.
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WhirledPeas
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Food Intolerances : Gluten, dairy, soy, eggs, high fiber, raw produce w/ exceptions pre- May 1 severe flare. 2013 I tested only sensitive to gluten/dairy. C1 test showed some items in 1 category like rice which never bothered me in past.

PostPosted: Fri Sep 01, 2017 8:07 pm    Post subject: Reply with quote

This is the product that the MD that my niece-in-law goes to. She recommends this once your B12 and folate levels are elevated to the numbers I mentioned in my prior post. This is maintenance once those levels are higher. Sure is pricey for 60 day supply. Is this similar or the same thing as the MethylGuard that Tex and some of you take?

https://squareup.com/store/pandyamedicalcenter/i...e_lead=item_embed

Methyl Cpg 60ct
$38.40
Regular Price

Methylation is a vitamin-requiring biochemical process in the body that is critical for supporting many aspects of mental and physical health including regulating gene expression. Methylation occurs billions of times every second and helps the body to repair DNA on a continual basis. However, when methylation processes in the body slow down, an increase in the breakage of DNA strands can occur. In addition to maintaining DNA repair, methylation reactions help maintain optimal neurotransmitter production, homocysteine balance for cardiovascular health, and the recycling of molecules that are required for detoxification and healthy inflammatory response. Methylation is also required for proper energy metabolism, immune and nerve cell function. Proper methylation can be inhibited by nutrient deficiencies including folate, and B2, B6 and B12. Certain medications such as acetaminophen, aspirin, ibuprofen and oral contraceptives can also deplete blood levels of these crucial B vitamins.

Methyl CpG is a comprehensive formula that includes targeted amounts of five key nutrients designed to aggressively support methylation and homocysteine balance in the body. Methyl CpG provides high-concentration folate as Quatrefolic® - 100% 5-MTHF, the biologically active form, and trimethyl glycine. The formula includes key methylation vitamins B2, B6 and B12 (methylcobalamin). This specific blend of methyl donors promotes DNA repair, homocysteine balance, neurotransmitter production, hormone balance and optimal detoxification.
_________________
1st severe flare 5/1/17 Budesonide started 6/7/17. MC/Gastritis 5/2013; IBS/GERD 2001nobiopsy. Celiac biopsy neg2013. Protonix2001-2006.
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Gabes-Apg
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Food Intolerances : Gluten, Yeast, Caesin, Soy, salad/raw veges and fruit
Location: Hunter Valley NSW Australia

PostPosted: Sat Sep 02, 2017 1:21 am    Post subject: Reply with quote

Wendy
first thing - you may have tested positive to that Gene SNP - but that does not guarantee that it is 'active'

in regards to your reaction to active B12, I struggled with active B12 supplementation at first - until I fixed issues with other deficiencies such as B6, magnesium etc.
the thorne methyl guard product is fantastic product as it has active forms of multiple B's that the body needs to absorb B12.
yes, supps of active forms cost more, because they are a better grade/quality of product.


in regards to 23andme, they no longer provide methylation reports - but you can use the 23andme result data via other web site reports, to get full methylation cycle genetic information - livewello, genetic genie, nutrihacker are some

in regards to your blood test results - as I have previously mentioned to you - the blood test result for B group vitamins is based on total B6 or B12. It does not identify how much of the result is 'active' form of that B vitamin. ie the test result may be in the 'normal' range, but it may be up to 80% of inactive forms of that B vitamin.
my suggestion is do not 'over think' test results, they are an indicator per say, not a factual representation of what is really happening.
and don't go comparing to others.

most of all be patient, it will take time for you body to heal.
your Vit D3 dose is still on the low side for someone with IBD and recent flare. and that your recent test result is down to 34.
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"Anything that contradicts experience and logic should be abandoned"
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brandy
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Food Intolerances : gluten, dairy, soy, corn, sugar, quinoa, rasberries, blackberries
Location: Florida

PostPosted: Sat Sep 02, 2017 9:12 pm    Post subject: Reply with quote

Hi Wen,

I'm actually taking Thorne Methylguard PLUS, https://www.amazon.com/Thorne-Research-Methyl-Gu...orne+methyl+guard

Above are the ingredients.

It gets confusing. They have the "Methylguard" and they have the " Methylguard Plus"
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