Category Archives: Nutrition

METHYLATION MAZE: MTHFR Diagnosis

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I was tested for MTHFR gene defect in November. MTHFR stands for methylenetetrahydrofolate Reductase and is an enzyme. My test came back positive (+) for the MTHFR gene mutation, specifically, I have two copies of the C677T variation (C677T/ C677T). My friend tells me this is “the worst” diagnosis. I don’t know if it’s “the worst,” but am focusing on what it means and what I can do to help my body deal with this abnormality.

I am still sorting through information on the Internet. What seems to be consistent is that it is a fairly common gene mutation and it can adversely affect the homocysteine levels in the bloodstream, thereby having cardiovascular implications , such as stroke and cardiovascular disease. It also seems to have a role to play in the risk for colon cancer, as well as possibly for depression and other health problems.

I found the Ben Lynch’s MTHFR.net Web site to be helpful, but a bit complicated. Joe Leech’s YouTube videos provide more accessible information on implications of an MTHFR gene mutation.

I tried adding a MTHFR-5 (methylfolate) supplement to my diet and did not tolerate it well. I experienced a lot of anxiety, agitation, and insomnia with a methylfolate supplementation. I reduced the dose, but continued to have side effects. What has worked best, so far, is to add folate-rich foods to my diet. MTHFR Living site gives a summation of natural sources of nutrients that are good for people with an MTHFR defect, but it seems like a sensible list for everyone to follow.

I suspected I would test positive for the genetic mutation because I do not seem to metabolize well the B12 (methylcobalamin) injections I take for pernicious anemia (Pernicious anemia is an inability to absorb the Vitamin B12 in food because of an autoimmune disease.). Although my serum (blood) levels show high levels of B12, I feel like I don’t metabolize the injections very well, and I seem to need them more often than a PA diagnosis would indicate. My body also reacts strangely to the numbing agent used during dental procedures. The last time I had dental work, much to the surprise of my dentist, I had to have more numbing agent injected about halfway through the procedure. I suspect this might be related to the MTHFR mutation.

There is conflicting information on whether folic acid or folate is recommended to treat this variation. This medical source implies there is no difference between folic acid and folate (both are Vitamin B9).  Other sources recommend avoiding folic acid in favor of more bio-available folate.

I have a lot of learning to do, but am starting to get a sense of what will work best for me. The good news is perhaps not surprising: some of the most folate-rich foods are ones I crave the most, such as spinach, asparagus, beans, beets, broccoli, mangos, and romaine lettuce. I keep a list of folate-rich foods on my fridge and make it a point to enjoy food with folate every day.

Be well!

cruciferous

Famous People with Pernicious Anemia

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A friend of mine sent me a link to the New York Times article: ” Was Mary Todd Lincoln Driven ‘Mad’ by a Vitamin Deficiency? ” It turns out she had a lot of the physical and psychological symptoms that fit with pernicious anemia.

In 2012, shortly after my diagnosis of pernicious anemia, a friend in Chicago said she thought Annie Oakley died from pernicious anemia. A quick search online seems to bear this out.

The article about Mary Todd Lincoln states “Severe cases are not often seen now because blood tests can diagnose the disease early and doctors can treat it. But that was not so in Mrs. Lincoln’s day.”

This was an unsettling statement because, although pernicious anemia is now an easily diagnosed disease, it is not always readily diagnosed. I think much of this is due to doctors not being aware of the symptoms and are mistakenly looking at red blood cell enlargement on a CBC (complete blood count) as the indicator of whether to test a patient’s serum vitamin B12 level.

A woman I know has symptoms of orthostatic intolerance and many symptoms of vitamin B12 deficiency. She is not quite vegetarian–but she eats very little meat (vitamin B12 is mostly found in meat and eggs), so is squarely in the risk group for low B12 levels. Yet, her physician refused to check a baseline vitamin B12 level because her other labwork results didn’t warrant it. My guess is that the doctor didn’t see the enlarged red blood cells that indicate severe and late-stage B12 deficiency. This doctor apparently doesn’t know that B12 levels on the low side of normal are sometimes an indicator of vitamin B12 deficiency. Without visible blood cell changes, there can be severe nervous system damage taking place.

This lack of knowledge will continue to be detrimental and, in some cases, devastating to the lives of people with undiagnosed/ misdiagnosed vitamin B12 deficiencies.  Medical schools need to start teaching about the damage that can be done in the human body with “low-normal” vitamin B12 levels and health care practitioners need to start sharing this information.

The Big POTS Study

I recently ran across the Big POTS Study questionnaire on the Dysautonomia International Facebook site. They also have a link to the survey on their Web site. Dysautonomia International can also be found on Twitter at @Dysautonomia. The Big POTS Study is sponsored by Vanderbilt University and Dysautonomia International and means to study the impact of Postural Orthostatic Tachycardia Syndrome (POTS).

The survey took an hour or two to complete. The questions brought up a lot of emotion; it was a bit like picking at the scab of a wound I thought had healed. I don’t think it’s giving too much away to say that there is a question that asks what you think caused your POTS. According to the doctor who finally diagnosed my pernicious anemia, the autoimmune disease pernicious anemia was the cause of all of my POTS symptoms. Pernicious anemia blocks the uptake of vitamin B12, which is critical for myelin sheath formation, so it makes sense that, if someone is not getting enough vitamin B12, their autonomic nervous system is not going to be happy. My blog post POTS vs. Vitamin B12: a Venn Diagram, explains this further.

To complete the survey was a time and emotional commitment, but my hope is that my input will help others. If you have received a diagnosis of POTS, I encourage you to complete the 29-page survey.

October is Dysautonomia Awareness Month.

Be Well & B12!

 

Sally Pacholok: the Movie

Sally Pacholok the Movie:

 

Those of you who have read my previous blog posts will be familiar with the name “Sally Pacholok” and will recognize the name of the author of Could It Be B12?: an Epidemic of Misdiagnoses.  Ms. Pacholok is a nurse whose mission is to educate patients, doctors, and the general population about the prevalence of vitamin B12 deficiency. Hopefully, this movie that was inspired by Sally Pacholok will extend the reach of this critical message.

Even marginally low vitamin B12 levels can cause damage to the nervous system and can have deleterious effects on the body and mind. I have mentioned specific symptoms in previous blog posts.

There is also a Facebook site for Sally Pacholok, the Movie.

Please spread the word and…

… Be Well and B12!

Sunshine Vitamin

Sunset at Schwiebert Park, Rock Island, IL

Sunset at Schwiebert Park, Rock Island, IL

The sun, our life-giving star, sank beneath the Centennial Bridge, and then below the Mississippi River horizon line. Three blue heron had just flown overhead. I was taking in the last rays of the days, and thinking about the shortening days. This lead me to think about “the sunshine vitamin,” vitamin D, which isn’t a vitamin at all, but is a stem-cell regulating hormone.

I first realized how common vitamin D deficiency is from an evening newscast. Dr. John Whitcomb, a member of Aurora Hospital’s Emergency Department, said he gives most patients who walk through the ED doors, a shot of 50,000 units of vitamin D (cholecalciferol). Vitamin D, formerly thought to mainly help with bone formation and healing, has benefits for many body systems. Adequate amounts have been shown to ward off depression and most types of cancer. It is key in cardiovascular, bone, and immunological health.

Arthritis is only one of many conditions that can be ameliorated with the correct level of Vitamin D; read about other conditions that call for more of this sunshine “vitamin” and  other valuable information about Vitamin D.

According to Dr. Whitcomb, even if you spend time outdoors in the sun during the wintertime, the sun angle, at the latitude of Milwaukee, is such that your body cannot manufacture vitamin D. It relies on vitamin D stores in the body, accumulated during late Spring through Summer. There are a few foods that naturally provide vitamin D; they include mostly wild-caught fish, meat, and eggs.

It’s interesting to me, that if you consider indigenous diets, those in Northern latitudes contain a lot of fresh fish.

How much is enough? My primary physician, in Wisconsin, took a 4,000 IU (unit) supplement. At the cardiologist’s office I went to in Milwaukee, one of the cardiologists had all his patients take 4,000 IU. The American Cancer Society recommends 4,000 IU. Dr. John Whitcomb goes into detail about vitamin D and heart health. Here is an explanation of his 20/20/20/20 “rule.” The current RDA is only 400 IU, the amount to prevent rickets. This amount was established at a time when vitamin D was thought to mostly just affect bone health.

Because it is a fat-soluble vitamin, some people have concerns about toxicity. This can be an issue, as well, if you are receiving it by injection in large doses. I’ve heard 2,000 IU recommended as a dose, if you are concerned about toxicity. But, I do not dispense medical advice, and your doctor can check your blood level of vitamin D3 with a simple test. If you are low, you can decide whether to supplement with your diet, oral supplements, or with reasonable amounts of good ol’ sunshine.

Be Well!

(Sidenote: 1/11/16 revision updates some links related to Dr. John Whitcomb that were not working. Apologies for any frustration.)