Category Archives: Mental Health

METHYLATION MAZE: MTHFR Diagnosis

gene-image-free

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!

Addison-Biermer Anemia (aka Pernicious Anemia) and its relation to POTS symptoms

lentil soup nov 2014

Here in the Midwest, it’s 23 degrees below the average temperature for this date. It’s soup weather. It turned out it was also a good day to catch up on some correspondence and research.

My search for a clear explanation of POTS was inspired by a conversation with an old friend; we had not spoken in years. He asked about my health and, once again, I tried to explain my lingering symptoms of POTS (Postural Orthostatic Tachycardia Syndrome)–why, although I have a “real” diagnosis now and a treatment (though not a cure), I continue to experience tachycardia (rapid heart rate), chronic fatigue, and other persistent symptoms.

I am one of the lucky ones– I did finally find a cause for my POTS symptoms. In Wisconsin, I saw fifteen doctors and, with an “impressive” tilt table test at the Wisconsin Heart Hospital, and, after decades of searching for what was wrong with me, I got a diagnosis of POTS.  Four years later, in February of 2012, Dr. Joe, finally made a more correct diagnosis of pernicious anemia; he isolated the actual cause of my POTS symptoms. He said pernicious anemia accounted for all of my POTS symptoms. He said it would be “a long haul” to healing, and to hopefully reversing the nerve and other damage that has been done from depriving my body of vitamin B12 for many years. I received many misdiagnoses and doctors missed the diagnosis of pernicious anemia for decades, partially because my blood (CBC–complete blood count) did not exhibit the typical (now I know late stage) changes with vitamin B12 deficiency. To make my case even tougher to diagnose, the one doctor who did test my vitamin B12 blood level, found it to be technically in “normal” range and ruled out B12 deficiency as a possibility. It turns out nerve damage can happen even when one’s vitamin B12 level tests “normal” because there is a significant part of the population that is actually deficient in “normal” range.* I say the lab parameters need to be changed. Most doctors don’t seem to know this, though I keep finding on websites that further testing needs to be done (homocysteine level or MMA–methylmalonic acid) if a patient’s serum vitamin B12 level is “low-normal” but they are symptomatic. I was very symptomatic and had textbook signs of vitamin B12 deficiency, which turned out to be caused by pernicious anemia (Addison-Biermer Anemia).

Yes, nerve destruction can and does happen while the blood does not exhibit changes typically found in vitamin B12 deficiency. I’m living proof. Internet Scientific Publications (ISPUB.com) gives a thorough description of the various impacts of vitamin B12 deficiency on the nervous system.

In the course of my search for information, I found Web sites related to POTS , pernicious anemia, and autoimmune diseases. I found out that pernicious anemia is also known as Addison-Biermer’s anemia. I also found that autoimmune disorders can sometimes come in clusters; for instance, people with Addison-Biermer Anemia can have a coexisting autoimmune thyroiditis. Interestingly, I have two sisters with Hashimoto’s thyroiditis.

I have now been taking injections of vitamin B12 for about three years, and, though I’ve made some gains, I continue to experience many of the POTS symptoms. The description of POTS–what it is, and what it is not (it is not anxiety)– by Dysautonomia International, is one of the best I’ve ever come across. Their site also has a comprehensive list of lifestyle adaptations for those experiencing POTS symptoms.

http://www.dysautonomiainternational.org/

Dysautonomia International also has a Facebook site:

https://www.facebook.com/DysautonomiaInternational

There are many POTS and dysautonomia informational and support sites on Twitter as well.

 

* About 5 – 10% of those in “low-normal” (200- 400) range, according to the asterisked note on my 2012 B12 lab result. As I recall, the lab was Dynacare Lab.

 

Be Well & B12!

tulips cinco de mayo

 

This photo has absolutely nothing to do with pernicious anemia or vitamin B12, but it’s 9 degrees Fahrenheit and I need a reminder what spring will hold.

Alzheimer’s Disease vs. Vitamin B12 deficiency

tGnGAment 1986

Most people have the experience of momentarily forgetting someone’s name, or a street address, or to have a word on the “tip of their tongue.” But when we know what we want to say, and the words aren’t there, or we experience confusion about simple things, it can be truly upsetting. Not being able to find the words you want to use is called “expressive aphasia,” or “anomic aphasia” and can happen after a person suffers a stroke. It can happen for other reasons too.

I experienced expressive aphasia  and anomic aphasia when I was vitamin B12 deficient. I was diagnosed with Postural Orthostatic Tachycardia Syndrome, or POTS, in 2008. But this was not the full story.

My POTS symptoms came from being vitamin B12 deficient for, most likely, decades. I finally got a diagnosis of pernicious anemia in February of 2012. Pernicious anemia prevents absorption of vitamin B12. My memory problems, aphasia, and “foggy head” still come back when my vitamin B12 level drops. Before my pernicious anemia diagnosis, I often opened my mouth to speak, and was unable to find the words I wanted.

My memory issues were once so severe, I found myself standing outside of my apartment building looking at my keys, trying to remember what I was supposed to do with them, and trying to remember what they were called. It invoked a feeling of terror in me; I felt like I was losing my mind. It became commonplace for me to search for a word, and to have to substitute another word besides the one I wanted was not there. At the time, I was in my early 40s and wondered if I had early-onset Alzheimer’s Disease, or some other type of dementia. Of all of my myriad symptoms, “losing my mind” was one of the scariest. I feared there might be a grain of truth to what some doctors were telling me– doctors who diagnosed me with “somatoform disorder” (“it’s all in your head”), depression, anxiety, and “dysthymia.” The truth was that I had bone-deep fatigue, and other symptoms, the cause of which eluded doctor after doctor. However, there are psychological changes that can occur with vitamin B12 deficiency.

In their book, Could It Be B12?: An Epidemic of Misdiagnoses, authors Sally Pacholok, RN, and Jeffrey Stuart, DO, have an entire chapter devoted to troublesome symptoms that can mimic the symptoms of “normal” aging, including memory loss, forgetfulness, and signs of dementia.

According to Could It Be B12?: An Epidemic of Misdiagnoses, (pg 32) “between fifteen and forty percent of people over sixty have low serum B12 levels. This means that at least one in seven people over sixty—and possibly as many as four in ten—are at risk of suffering from nerve, brain, heart, and blood vessel damage caused by an often ‘silent’ deficiency.” The authors state there is a critical window of time in which low vitamin B12 needs to be treated, before permanent cognitive changes and damage result.

Some symptoms of low vitamin B12 which sometimes are attributed to old age include: leg pains; difficulty walking; falls; confusion; memory loss; and neuropathy. Pacholok and Stuart make a solid case that  low levels of  vitamin B12 lead to brain atrophy. They reference studies that show that low vitamin B12 levels precede Alzheimer onset, and so can be a factor in (contribute to) the development of Alzheimer’s Disease.  They state, “In 2008, an article in the [periodical] Neurology reported that low B12 causes brain atrophy (shrinkage) and is linked to the cognitive  impairment in the elderly.” Brain atrophy is associated with confirmed Alzheimer’s Disease, and so is vitamin B12 deficiency.

If you or your loved one have memory loss, depression, dementia symptoms, or any of these signs, consider that it may be an easily reversible case of vitamin B12 deficiency–easily reversible if caught in time, so do not delay in asking your doctor for a serum (blood) vitamin B12 level. Keep in mind, the US parameters for this lab have a “gray zone”, which is discussed in Could It Be B12?: An Epidemic of Misdiagnoses. Any reading below 400 pg/mL, if the patient is symptomatic, warrants follow up testing. The video by the same name covers this, as well as other important information about vitamin B12 deficiency. Vitamin B12 deficiency and pernicious anemia are far too often misdiagnosed.

Be Well & B12!

POTS vs. Vitamin B12 Deficiency: a Venn Diagram

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I had been severely, surreal-ly sick for years–decades actually. My heart palpitations started in 2005, but I had symptoms before that. In 2008, I got the diagnosis of “Postural Orthostatic Tachycardia Syndrome” (POTS). According to my primary doctor at the time, my tilt table result was “impressive.” The tilt table test is the method by which POTS is diagnosed. My heart rate spiked into the 140 beats-per-minute range just standing upright for a few minutes. I became severely short of breath as I continued to stand. I told my cardiologist I thought it was asthma I’d been experiencing. She said, “No, your heart is just working that hard.” POTS is a syndrome, a cluster of symptoms, and therefore, not a diagnosis of a definitive disease. From researching online after my diagnosis, I found that POTS does not have a known cause or cure. It is not deadly, and sometimes people have spontaneous remission. Medications, compression stockings, and dietary approaches helped some people manage the symptoms of POTS, but were not curative. Here are just some of the symptoms I experienced with my “POTS”:

  • fatigue
  • dizziness
  • neurological symptoms
  • tachycardia (rapid heart beat)
  • heart palpitations
  • neuro-psychological symptoms
  • problems with memory, confusion, trouble with word recall
  • pallor (pale skin)
  • anorexia (decreased appetite)
  • nausea
  • weight loss
  • syncope or feeling lightheaded, like passing out
  • restless legs
  • depression
  • parasthesia (numbness, tingling, burning sensations)
  • severe shortness of breath
  • exertional dyspnea (shortness of breath with physical exertion)

POTS is categorized as an autonomic nervous system disorder, or “dysautonomia.” My cardiologist explained that, though it affected my heart, POTS is actually a neurological disorder. The nerves in my legs were not getting the signal to contract; contraction of the large muscles in the lower extremities is a main way that blood from the lower extremities returns to the heart and head. I found a dysautonomia support forum on the Mayo Clinic website. The stories were heartbreaking. A mother described her teenage daughter’s debilitating illness. She said her daughter’s life was ruined. This story was repeated over and over again, and mirrored my story.

In September 2011, I received a diagnosis of a vitamin B12 deficiency. This was before I was diagnosed with pernicious anemia, in February 2012, as the cause of my vitamin B12 deficiency. Nearly four years passed between my diagnosis of POTS and pernicious anemia (PA). I was under the impression that, though my symptoms pretty much destroyed my life as I knew it, POTS would not kill me. I was wrong, because I was actually suffering from pernicious anemia, which, as “pernicious” means, is deadly. I gratefully received a correct diagnosis of PA before I died, or ended up in a wheelchair, but people still die from this autoimmune disease. The American Journal of Public Health published a study which shows that autoimmune diseases are a leading cause of death in young and middle-aged women in the United States.

Between September 2011, and February of the following year, I researched vitamin B12 deficiency online. When I brought up a website which listed symptoms of vitamin B12 deficiency, I was shocked. It listed all of my “POTS” symptoms. In fact, if one were to do a Venn diagram, it would be overlying circles, instead of a mere intersection of circles. When my doctor gave me a pernicious anemia diagnosis in February, he said, “This absolutely explains all of your POTS symptoms.” And as for the possibility of recovery he added, “It’s going to be a long haul,” but told me of a colleague who had numbness from her knees down, because of a delayed diagnosis of vitamin B12 deficiency. After many years of vitamin B12 treatment, she regained the feeling in her legs.

It occurred to me that if my POTS diagnosis was actually from a vitamin B12 deficiency, others with POTS were also suffering from an undiagnosed vitamin B12 deficiency or pernicious anemia. They, too, were told they had a mysterious, inexplicable disorder, for which there were only palliative measures. Perhaps most of these POTS sufferers are actually vitamin B12 deficient.

So if you have received a diagnosis of POTS, a dysautonomic disorder, or a neurological/autonomic nervous system problem, I encourage you to pursue finding a cause for your symptoms. If you have depression, bone-deep fatigue, or any of the other symptoms mentioned above, and you feel your doctors are “missing something,” please do not give up searching. Consider having your doctor test you for a vitamin B12 deficiency. Continue to research possibilities. A good place to start is by reading, Could It Be B12?: An Epidemic of Misdiagnoses, by Sally Pacholock, R.N. and Jeffrey Stuart D.O..

Trust your intuition. Trust what your body is telling you. Persevere.