thiamine

Western Medicine: A House Built on Sand

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Let Food Be Medicine

At the risk of repeating myself too much as in former pages of this website, I want to return to discussing in some depth the fallacies incorporated in our present approach to health and disease. You may or may not remember that I have stated a number of times that Hippocrates (400 BCE) uttered the formula “Let food be thy medicine and medicine thy food”. Having been construed as the “father of modern medicine”, it has seemed to me for a long time that he has been ignored as a “parent”.

For centuries, there was no idea about disease. The early Egyptians bored holes in people’s heads “to let out the evil spirits”. Throughout medieval history the only treatment seems to have been “bloodletting”. In our modern world, horns from the rhinoceros are regarded so highly for their medical properties, that this wonderful animal is reaching the point of annihilation. Pharmaceutical drugs, with the exception of antibiotics, only treat symptoms. I ask you, does this make any sense at all in the light of what Hippocrates suggested?

Because humanity tends to follow a collective pattern and only rarely listens to an idea derived from rational deduction, I view medicine as like a traveler on a road without a known destination. In my imagination, he comes to a fork in the road, but the signpost records information on only one fork. It reads “kill the enemy”, reminding me of the story of Semmelweiss, a lone thinker in his time and who “gave thought to the message on the signpost”. Most physicians are familiar with this story but it is worth repeating.

Semmelweiss was a physician who lived at a time before microorganisms had been discovered. He presided over an obstetric ward where there were 10 beds on one side and 10 beds on the other. The physicians would deliver their patients without changing their clothes or washing their hands. As we would expect today, the death rate from infection was extremely high. Semmelweiss said to himself, “they must be bringing [the enemy] in on their hands” and he devised the first known clinical experiment. He made it a rule for the physicians on one side of the ward to wash their hands in chlorinated lime before they delivered their patient. The physicians on the other side of the ward continued to deliver their patients in the same old way. As we would easily recognize today, it did not require a statistician to see the difference between the incidences of infections on the two sides of the ward. Irrespective of the fact that this was a dramatic discovery that later had obvious meaning, Semmelweiss was accused by the medical authorities of the day of being non-scientific because he could not explain what it was that was supposed to be on the hands of the physicians. Of course the medical establishment had no idea that their model for disease was catastrophically wrong, although collectively certain that their philosophy bore all the hallmarks of scientific truth. Semmelweiss had offended the medical establishment and they threw him out of the hospital. He died a pauper in a mental hospital.

The First Medical Paradigm: Kill the Enemy

When microorganisms were discovered to be responsible for infections, it fulfilled the message on the signpost and it became the first paradigm in medicine. Kill the bacteria: kill the virus: kill the cancer cell, but try not to kill the patient. If we look at the history of this time, we find that a lot of patients were killed in the concerted attempts to find ways and means of killing the enemy. We all remember the discovery of penicillin and how it led to the antibiotic era, still the major therapeutic methodology, even though we know that it is running into bacterial resistance and has never been a good idea for viruses or cancer cells.

Although the germ theory had been around for a long time, Louis Pasteur, Ferdinand Cohn and Robert Koch were able to prove it and are regarded as the founders of microbiology. However, Pasteur was said to have uttered the words on his deathbed “I was wrong: the microbe (germ) is nothing. The terrain (the interior of the human body) is everything”. Perhaps he had unknowingly voiced the principles of the next paradigm in medicine.

The Second Medical Paradigm: Genetic Determinism

The monk, Mendel, by his work on the segregation of peas, formulated what came to be known as the genetic mechanisms of Mendelian inheritance and the discovery of DNA modeled the next stage in our collective development. The fact that each of us is built from a complex code that dictates who we are was a remarkable advance. The fact that the construction of the code sometimes contained mistakes (mutations) led us to explaining many diseases and for a long time we believed that the genes were fixed entities, dictating their inexorable commands throughout life. However, the newest science of epigenetics has shown us that the DNA that makes up our genes can sometimes be manipulated by nutrition and lifestyle, as well as by artificial means in the laboratory.

Health: The Ability to Respond Effectively to a Hostile Environment

We are surrounded by germs that exist everywhere, many of which cause disease as we are all too well aware. Nevertheless, whatever evolutionary mystery guides our development, we are all equipped with an extraordinarily complex, genetically determined, defense system. We now know that this is organized and directed by the brain. Assuming that the genetic determinations of the terrain are completely intact, we can be reasonably assured that we can defend ourselves from any germ that Mother Nature can throw at us. Built in mechanisms in the brain require a huge amount of energy when it goes into action directing the traffic of the immune system. It is a crisis and can be likened to a war between the body and the attacking organisms. Thus, if Pasteur may have stated the next paradigm in medicine, what does it mean?

As an example, a typical microbial attack causes a common disease that goes by the name of febrile lymphadenopathy (strep throat). The throat becomes inflamed, perhaps because the increased blood supply brings in white blood cells, acting in defense. An increase in circulating white cells also occurs, bringing a brigade of defensive soldiers. The glands in the neck become swollen because they catch the germs that get into the lymph system.  Lastly, the increased temperature of the body is also part of the defense. Germs are programmed to have their most intense virulence at 37°C, the normal body temperature. If this temperature is increased, the attacking germ does not have its maximum efficiency. In other words, what we are looking at as the illness is really the act of brain/body defensive interaction. Besides attempting to kill the attacking germ as safely as possible, should we not be assisting the defense? The answer calls into question the relationship between genetic intactness and the required energy to drive the complex defensive action. Perhaps a genetic mistake (mutation) can sometimes be manipulated by an epigenetic approach through nutrients, just as advised by Hippocrates.

Disease: The Inability to Adapt to the Environment

If we look at health as the ability to respond effectively and adapt to environmental, mental and physical stressors, it is possible to re-conceptualize illness by the manner in which that response is carried out. A healthy individual will respond to stressors without problem, because of an efficiently effective mobilization of energy dependent mechanisms. In contrast, individuals who are not healthy will respond in one of two ways. Either the defense mechanisms will be incomplete or absent or over-reactive and inconsistent. Listed below are examples of both. Note that this is in line with the ancient philosophy of Yin and Yang or, in modern terms “everything in moderation”. Too much of anything is as bad as too little.

Exhausted Defense Systems

When I was a resident in my English teaching hospital, before the antibiotic era, I admitted a patient with pneumonia who was known to have chronic tuberculosis. He was seen to be “unconsciously picking at thin air with his fingers” and the physician for whom I was resident pointed out that it was a classic example of “a sick brain” and that he would die. He never had any fever, elevation of white blood cells or any other marker of an infection but at autopsy, his body was riddled with small staphylococcal abscesses. He had lived in the east end of London, notorious for poverty and malnutrition at that time. In fact, as an organism, he never showed the slightest sign of a defense. His “sick brain” was completely disabled in any attempt to organize his defense.

Excessive or Aberrant Defense Mechanisms

Many years ago I was confronted with two six-year-old unrelated boys who for several years had each experienced repeated episodes of febrile lymphadenopathy. Both boys had been treated elsewhere as episodes of infection. In each case the swollen glands in the neck were enormous. One of the boys had been admitted to a hospital for a gland to be removed surgically for study. It had been found that the gland was just enlarged but had a perfectly normal anatomy, only contributing to the mystery. One of the curious parts of the history was that each of these boys had been indulged with sweets. Because I was well aware that sweet indulgence could induce vitamin B1 (thiamine) deficiency, I tested them and found that both were indeed deficient in this vitamin. Treatment with large doses of thiamine completely prevented any further attacks. The mothers of the boys were advised to prohibit their sweet indulgence. I needed some evidence and asked one of the mothers to stop giving thiamine to her son. Three weeks later he experienced a nightmare, sleep walking and another episode of lymphadenopathy that quickly resolved with thiamine.  A nightmare and sleep walking supported the contention that the brain was involved in the action. In addition, his recurrent illnesses had been associated with increased concentrations of two B vitamins, folate and B12, both of which decreased into the acceptably normal range with thiamine treatment. Of course, this added complexity to an explanation.

What I had already learned about thiamine deficiency is that it makes the part of the brain that controls automatic mechanisms much more sensitive. One or more reflexes are activated unnecessarily. No reflex activation is as bad as too much. Thus, the “trigger-happy” defense mechanisms were being activated falsely. Thiamine is perhaps the most important chemical compound derived from diet that presides over the intricacies of energy metabolism. All that was required was an improved energy input to the brain. Folate and B12 are vitamins that work in energy consuming mechanisms and I hypothesized that their respective functions were stalled for lack of energy, causing their accumulation in the blood. Whatever the explanation, the facts were as described. It is interesting that the high levels of folate and B12 had been found at the hospital where a lymph node had been removed. The mother had been accused of giving too many vitamins to her child. She had told me that she did not understand this explanation because she had not given any vitamins to him. I had measured them solely to verify this finding.

The Treatment of Disease Should Begin with Host Defenses

We exist in a hostile environment. Each day throughout life we live in anticipation of potential attack. A physical attack may be an injury, an infection or an ingested toxin. A mental attack, divorce, grieving, loneliness, generally referred to as “stress” may be virtually anything that causes the brain to go into increased action. In facing both physical and mental forces, it is the brain that organizes the defense and it demands an increase in energy output that depends solely on the ability to burn fuel. The fuel burning process is governed by a combination of genetically determined ability and the nature of the fuel. Thus, the treatment of all disease is dependent on this combination being effective. It can be seen as obvious that killing the enemy is insufficient. As our culture exists at the present time, trying to get people to understand the necessity of perfect nutrition is a pipe dream. This particularly applies to youth and the artificiality of the food industry. However, our culture is also virtually brainwashed to accept tablets as a means of treating anything.

In our recently published book “Thiamine Deficiency, Dysautonomia and High Calorie Malnutrition“, Dr. Marrs and I have shown that thiamine deficiency is extraordinarily common and that supplementary thiamine and magnesium together balance the ratio of empty calories to the required concentration of cofactors necessary for their oxidation. The question remains, would vitamin supplementation, just as artificial, be a more successful sell as a preventive measure? We have shown that the symptoms derived from prolonged high calorie malnutrition can last for years as an unrecognized polysymptomatic illness that haunts many physicians’ offices. Early recognition represents an easy cure. There is a good deal of evidence that ignoring the symptoms and the persistence of high calorie malnutrition creates a gradual deterioration that then turns up as chronic disease. Some drugs, metronidazole being an example, will precipitate thiamine deficiency, so we have to recognize the precarious nature of the present medical approach in the use of drugs whose action in treating disease is often unknown. Although recognition of the artificiality of thiamine supplementation is implicit in this proposal, it is better than allowing a common example of continued morbidity to exist.

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This article was published originally on July 19, 2018. 

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Podcast Alert!

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Yes, I have been talking about thiamine again. This time with Dr. Kurt Woeller, as part of his series: Functional Medicine Doc Talk. We covered a range of topics from the chemistry to the clinic and everything in between. Importantly, we discussed why most of us need a little more thiamine that than we are getting from diet alone.

If you have a chronic health issue that seems intractable, consider the possibility that underlying nutrient deficiencies like thiamine are involved. Thiamine is a key metabolic regulator controlling a large portion of how we convert the foods we eat into the energy our cells need to function. When thiamine is low, energetic capacity and the ability to utilize and synthesize ATP wanes and along with it. The result is all sorts of compensatory reactions. Those reactions manifest as the symptoms of many of the modern illnesses that seem endemic these days – meaning that the root cause of these conditions is simply poor energetic capacity, or rather, insufficient thiamine. Could a simple vitamin hold the key to better health? Possibly.

If you or someone you love is suffering from a chronic and seemingly untreatable illness, have a listen and consider thiamine. If you would like more information about thiamine, consider: Thiamine Deficiency Disease, Dysautonomia, and High Calorie Malnutrition and/or read any of the hundreds of articles on this site.

Episode 4: Chandler Marrs, Ph.D – Thiamine Deficiency

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter.

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Familial Beriberi: Discovering Lifelong, Genetic, Thiamine Deficiency

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In 2017, at the age of 52, I had an unexpected call from my new doctor informing me “I know what’s wrong with you! Come to my office now!” Lifelong increasing chronic fatigue and untreatable Hashimoto’s thyroiditis were my chief complaints.

Past doctors prescribed high dose thyroid medication, which made me feel worse. An autoimmune diet kept me trim but provided no energy. I read adenosine triphosphate (ATP) is required for thyroid production, though ATP isn’t discussed in treatment. Baggage from Effexor and an adverse childhood were also contributors to my health.

Desperate, every relevant supplement and thyroid medication on the market, I tried. Only two were effective. GABA relaxed me, and d-ribose cured my depression 100%. I became bubbly. My personality changed, but after four weeks they both stopped working. Amour thyroid lifted my brain fog for a week. Then, I had side effects. Eventually, I would learn that I, and many members of my family, across several generations, had beriberi or thiamine deficiency. In my case, I had a defect in a key thiamine transporter that made getting sufficient thiamine from diet all but impossible. Unfortunately, I did not learn this crucial information, until I was in my fifties, after years of illness and suffering.

Women’s Issues and Unrelated Problems Begin

While my problems began decades earlier, they seemed to hit a crescendo as I hit menopause. The HRT patch relieved hot flashes, only to fuel a fruit-sized fibroid that split in half with one part covering my rectum. A GP prescribed colon therapy causing severe leg cramps and constipation. A fibroid ablation enabled normal bowel function. Afterward, ozone baths caused my bowel function to stop and I developed air hunger. An ENT said, “you don’t have sleep apnea, there’s another system in your body that is causing air hunger.” He recommends a university clinic over going to different specialists.  I pursued genetics.

Starting to connect my cognitive decline, prediabetes, and depression in my grandparents to myself, I went to the MTHFR expert that wrote the report.  Her extensive 15-page genetic/supplement report offered no results. After failed treatments from endocrinologists, functional doctors, and big-name clinics like Mercola, I took a chance on Orthomolecular Medicine.

Discovering a Familial History of Beriberi

On the day I was diagnosed with thyroid treatment failure, I found a nutrient interaction article and had a light bulb moment, I’m missing a nutrient for thyroid production. I went to the author, the late Dr. Richard Kunin, San Francisco’s legendary go-to doctor for solving mystery illnesses through nutrients. He was a pioneer in antioxidant therapies, utilizing diet, nutrient and genetic testing since the seventies.  His orthomolecular research was the first to verify the use of a mineral therapy in a drug-induced disease.

When his door flung open, I saw wisdom. A rare commodity. Here was this brilliant doctor and a poster of his early collaborator Linus Pauling, staring down at me. Dr. Pauling coined the term orthomolecular meaning “the right molecule in the right amounts.” A doctor like this comes once in a lifetime and I handed him my three-inch binder.

A true scientist, he was able to assess my biochemical individuality, in two sessions.

In the doctor’s intake, the first clue is asking what my parents ate. They ate both Chinese and Western foods, which seemed like no big deal. After lab results, he searches through 300 genes, to find the biggest picture, the gene. Instead of trying to treat multiple gene defects with a supplement. He addresses the root cause first.

He announces, “You’re deficient in thiamine,” and gives me the SNP, called Transporter 2 (SLC19A3) which provides instructions for making a protein called the thiamine transporter, which moves thiamine into cells. Over time, the transporter dissolves.

I had thiamine and asparagine deficiency and riboflavin and glutathione borderline deficiency. The thiamine or vitamin B1 deficiency caused the other deficiencies, but he stays on point and discusses thiamine and only thiamine. He prefaces the session with a history of beriberi and birds fed white rice.  Looking back, it’s rudimentary B1 history, but as a patient stuck in the Hashimoto’s/Adrenal Fatigue paradigm for so long, my mind went blank. I remained silent, I didn’t know if I could die from it.

To make matters more confusing. I had stopped taking thiamine after an OATS showed B1 adequacy.

When he told me I can’t convert energy from food, I thought how absurd. He reminded me “the bottom line is how well you absorb the thiamine; not how much I tell you to take”. A Meyer’s Cocktail IV is an initial part of treatment. The next step is collecting data to prove the relevance of thiamine as an essential nutrient required to make energy.

When I Added Thiamine, My Body Began To Recharge

For the first time, I saw a difference in labs and body function. At 300 mg of HCL, my increasing A1C levels fell below the prediabetes range. I almost took metformin at one point, recommended by an integrative doctor. I felt the effects of B1 utilizing B6, through a lucid dream. Treating methylation since 2006, he says “B1 is the gateway to methylation.”  With before and after data, he points out B1 upregulating the folate cycling. My energy was increasing. Muscular problems resolved, elevated branched chain aminos were absorbing and TMJ and bruxism disappeared. This was just the beginning. familial beriberi - thiamine deficiency

I found the thiamine experts, Dr. Derrick Lonsdale and Dr. Chandler Marrs during my titration period. Nuances of thiamine used as a drug to make ATP are available with a detailed overview of beriberi, throughout Hormones Matter. Post to post, the doctors’ addressed every missing piece to my complex puzzle and more. They prompted me to take a closer look inside my dad’s past, one he rarely spoke of, and connections were made.

While titrating up, I had a short bout of diarrhea in the middle of the night. When I decreased the dose, I developed POTS for the first time, the room would spin 24/7 whenever I stood up. My GP referred me to the ER. I was unaware that I was having a paradox reaction. I just upped the thiamine, POTS, and diarrhea resolved.

Chronic TD is called beriberi means “I can’t, I can’t” in Singhalese. The problem is Chinese typically under 80, have never heard of beriberi, and in the US, beriberi is known but assigned as a disease that does not exist anymore or a condition only seen in alcoholics and bariatric patients. Genetic beriberi is passed through families, causing the inability to absorb thiamine from foods.

Beriberi In Two Families Going Back Three Generations

My family history revealed apparent genetics expressing as neuropsychiatric disorders and other conditions that appeared unrelated. Thiamine deficiency (TD) is not easily identified, due to its polysymptomatic nature. Besides the brain, the heart, muscle skeletal, digestive system, and autonomic nervous systems (ANS) need thiamine to function.

My maternal side lived in prosperity and ate a traditional Chinese diet and tropical delicacies. There were 7 members, including my grandfather that had Alzheimer’s (AD) and one family member had Parkinson’s. My grandmother had TD from kidney dialysis. There was TD in AIDS. Untreated hyperthyroidism resulted in cardiac failure mortality at 58. An alcoholic uncle had deficits, anxiety, cancer, and AD. An anorexic cousin refuses whole meals, develops a damaged digestive tract, severe IBS-C, chemical sensitivities, and major depressive disorder.

My paternal side lived in poverty. White rice was a diet staple. There was an aunt that died from child mortality in China from starvation.

After migrating to the US, food scarcity persisted. My grandfather had obesity and type 2 diabetes. My grandmother had sadness after her husband sold their daughter’s papers in China, never to see them again. At 61, my 4’10” grandmother fell over and died from beriberi.

Her wake was the first time my dad went to a restaurant at age 16. He often licked food and preserved it for later. Falsely accused of stealing, the detention center fed him regular meals. Five siblings had short stature and high IQs. His Chinese brother pictured right, was saved by the U.S. Army from malnutrition and assigned to be the radar instructor. There was bullying, anger, and irritation in the three boys. One, a bar owner exhibited extreme behavior like bringing a gun over a trivial conflict that would leave in-laws aghast.

Ocular diseases, restless leg syndrome, circadian rhythm disorder, cancer, some OCD and hypermobility, and osteoporosis appear. There was TD from chemotherapy. Two aunts left behind in China lived to be centurions and a daughter has fibromyalgia, depression, and other deficits.

Connect the lineage with a pregnancy gone wrong.

Genetics and a Traumatic Pregnancy Sets the Stage for Life

Pregnancy, a hypermetabolic state, requires sufficient thiamine for the development of a healthy child. My mom, a robust woman, was overmedicated and bedridden for a month post-pregnancy. She recovered but my brother was permanently disabled. My brother was born with uncontrollable hyperactivity and oppositional disorder. Our theory was his oxygen supply was cut off to his brain, but it was thiamine deficiency.

Two years later I was born. As a young child, I was hypoactive and didn’t move much. In grade school hearing loss was detected. Early memories included some clumsiness and not having the strength to swing on monkey bars like other children. My first feelings of frustration were over homework, especially math. My overall health waxed and waned and would not draw attention until high school when tiredness, poor memory and learning disabilities appeared. I was bullied by my older brother.

Nine years later my younger brother was born, bruxism as a baby, was his first sign of thiamine deficiency.

The next generation, symptoms of thiamine deficiency show in a gifted child.

Neurological deficits ranging from severe to minor were a sign of impaired methylation since birth.
My mom’s prenatal diet was traditional and American, and we were bottle-fed. This was in the ’60s when women were weaned off breastfeeding.

Now connect the genetics, the pregnancy and untreated thiamine deficiency in a parent and sibling.

A Genius Mind Uses More Energy and Requires More Thiamine

My dad invented the on-line TV guide in the eighties. In a constant state of fight-or-flight, working through the middle of the night on patents, sugary snacks were comfort foods to compensate for early years of food deprivation. The “night owl” term we used was circadian rhythm dysfunction. Thiamine is an overlooked nutrient required for sleep and the breakdown of cortisol.

When my brother’s hyperactivity was unmanageable, breaking things, beating the ADD out of my brother was habitual. A dysfunctional limbic system causes knee-jerk reactions to uncontrollable rage. I just learned that my seemingly nice uncle, an alcoholic, frequently tried to beat the homosexuality out of his young child.

A psychologist thought violence only happens in alcoholics. I think this limited view needs to be updated to include excess processed food intake. I remember “children should be seen and not heard” commercials as a child when hitting and spanking was more accepted.

In 1983, Dr. Kunin cited Dr. Lonsdale’s research that describes the B vitamin link with violence in Mega Nutrition for Women, “patients whose violent behavior was inexplicable by conventional medical diagnosis were found to be deficient in one or more B vitamins, notably B1, B3, and B6”.

During the Covid-19 shutdown, I thought of TD when incidences of abuse spiked, homelessness and random violence spread, and middle-class families now become dependent on food banks.

Poor Health After Antibiotics

As a young teen, I lost my glow, I looked tired, and my skin had a jaundiced yellow-greenish tint. In high school, after a round of tetracycline for transient acne, I was never the same. My metabolism stopped and I gained 40 lbs. I also have leptin deficiency and so I am always hungry. Napping after school was an everyday event. My limited thyroid test given showed normal thyroid-stimulating hormone (TSH). I was also constipated but didn’t know it until middle-aged after I was diagnosed with Hashimoto’s. In my 20’s I took antibiotics for chronic strep throat. Uninterested in nutrient dense foods, I subscribed to carb loading and high-intensity aerobic activity, the trend of the day.

Changes in My 30’s and the Promise of Modern Medicine

When my dad had side effects from sleep medication, he did his research, bought supplements for every system in the body, and stopped going to doctors. He got the family off of rice and put us on B vitamins. Uneducated in vitamins, I gave up on them too soon. I wasn’t taking enough! My mom’s acupuncturist treated my ADD, but I strayed when a well-meaning friend steered me towards pharmacology, and I took Effexor. The damage showed up over the next decade when increased nervous system and mitochondrial dysfunction begin.

Loud bar music in the back of my unit initiated chronic insomnia in my forties. I had open mouth breathing. Elevated cortisol and night sweats woke me at least 8 times a night. If I was mad, I’d have an instant hot flash and sizzle like a red bull. I lost my sex drive. After quitting Effexor, elevated thyroid TBO antibodies appeared. Later diagnosed with sensorineural hearing loss, the psychiatrist prescribed sound therapy but the condition isn’t curable.

Musculature problems began, I had an unrelenting frozen shoulder from a gym accident, and at one point, I had ataxia and couldn’t walk straight. After a trip, while in Hurricane Ivan, I was unable to walk for a month with ataxia. I once met an advanced multiple sclerosis patient, that experienced the exact same symptom from Ivan. The cause was thiamine deficiency in the cerebellum, the part of the brain that controls movement and walking.

For work, I illustrated 300 skylines from around the world and market them on Etsy. My fine motor skills and artistry remain superior, but my spatial organization was nonexistent. I was very messy. Taking GABA hampered work stress, but I couldn’t cycle it from thiamine deficiency. Managing inventory and college students wore me out. One told me “You can’t retain what I tell you”.  Finding my car in large parking lots was often challenging. The hippocampus circuitry requires thiamine for short-term memory function.

Orthomolecular psychiatry has proven to treat and manage these types of disorders with nutrients and diet, as the first line of defense. There was no need for antidepressants.

After My Diagnosis, I Learned My Parents Were Already Taking Thiamine

When I told my dad about my thiamine deficiency, he pulled out a bottle of thiamine labeled anti-beriberi. He was taking B1 for cardiac support. The heart and brain consume a vast amount of energy and require thiamine to meet the demand. My mom took benfotiamine successfully for shingles, a neuropathic pain.

When I told my original acupuncturist, about my diagnosis he said, “I already know you have beriberi, just take B vitamins and lots of them. You don’t need my herbs.” He had been treating me for dysautonomia, twenty years before I developed POTS. I detested the point because his needling pressure hurt. No questions asked; he needles points by observation and pulse, Western characterization in diseases have no significance.

Part of the treatment for dysautonomia is a needle to the center of the philtrum, this point prevents fainting. Another needle is inserted into the center of the forehead and one on top of the head for balance. Traditional Chinese Medicine (TCM) healers identify liver and lung channels weakness two decades before western medicine.

The New Doctor Damaged My Health In Only Eight Months

Twenty nineteen was a bad year. Dr. Kunin sees Vitamin C deficiency and signs of anemia and then retired. I stopped getting IVs. I would still nap after taking them. My trusted acupuncturist, also a nutritionist moved. I began dry coughing a lot, which later I learned was a sign of TD. Then I met the worst doctor ever.

I showed her, Thiamine Deficiency, Dysautonomia, and High Calorie Malnutrition and she handed it back to me and said “Oh, another patient brought this in the office.” I interviewed another doctor and told him I have TD and he replied with, “what’s your point!” and referred me to a doctor out of state.

I settled on the first doctor, and everything started wrong. She put me on a high-dose thyroid medication without titrating, and Low Dose Naltrexone (LDN), which gave me a stomachache. She wanted me back on LDN after I told her I had side effects. She recommends NAD instead of Meyer’s Cocktails which includes thiamine.

By the time I realized I was in a hyperthyroid state, the damage had begun. A cascade of beriberi symptoms begins. When one symptom would go away, another would begin. The neuropathy was more long-term. I had resting tachycardia, lactic acidosis after five days of yoga stretch that caused feet neuropathy and then trigger finger. All the doctor could say was “I had candida overgrowth”.  The cause of candida was that I had a weakened immune system from TD. I watched videos on lactic acidosis to explain it to her.

When I saw an eleven year old’s homework on glycolysis it made me wonder how much doctors remember from medical school.” I tested the doctor and asked her “What does pyruvate convert to?” She answered incorrectly.

I was developing non-alcoholic Wernicke’s encephalopathy (WE), acute short-term memory loss. I almost walked out of a restaurant thinking I paid the bill. I couldn’t remember putting a credit card back in my wallet and arguing with the clerk after she had handed it back to me. Once I read, “if you think you’re deficient in thiamine, get an IV right away.” After a series of Myers Cocktails with phosphatidylcholine, the progression stopped.

Another doctor got me off the thyroid meds, yet wet and dry beriberi symptoms continued. My left-hand lost circulation and turned hard and purple. The back of my neck hardened and my backside turned into butter. I had unintentional weight loss and my hand reflexes slowed. My minerals were becoming unbalanced. I contacted a refeeding syndrome clinic, for a consult, but was turned away because I wasn’t anorexic. A few months later I traveled to Hawaii and made a mistake.

Orthomolecular Medicine Rescues Me Again

Accidentally packing thiamine HCL instead of TTFD, the HCL initiated my paradox reaction and I had diarrhea several times the first night. Every day I napped from the sun’s UV rays. Excruciating muscle cramps sent me to Dr. Pritam Tapryal, Honolulu’s IV doctor specializing in chronic fatigue syndrome. Thiamine handouts, a stockpile of capsules and vials of B1 were waiting for me.

He calculates that I needed 600 mg of IV thiamine based on the length of time I had been feeling unwell. With an iron load before the second IV, I felt a surge of energy – I got ATP! My vagus nerve stimulated peristalsis and excess fermentation stuck in my body for three months finally released. Elevated liver enzyme activity and low blood pressure normalized.  Afterward, I found a doctor willing to provide high dose thiamine therapy at home.

I went back to the doctor that said “what’s your point” when I told him I had thiamine deficiency and requested 600 mg of parenteral B1 instead of 100 mg. A bit taken back, he shows compassion and custom orders 500 mg of B1 in a Myers Cocktail, after I explained my recent experience. The IV manager thought I was an ICU patient, but I wasn’t. It was the dose I felt best on.

High Dose IV Thiamine Therapy: From  A Patient’s Perspective

A series of high-dose thiamine (HDT) IV treatments, turned into an epigenetic treatment going on two years and two months. I’ve taken 100,000 mg of parental thiamine to this date. Infusions continued to sustain therapeutic effects and increased thyroid production. Unknown cause of malabsorption required ongoing infusions. Resolved through extensive pre-and post-labs.

I self-directed my treatment and gauged myself. I found thiamine articles from all over the world, but high-dose thiamine information was limited to WE treatment only. I received no medical advice on thiamine therapy from allopathic doctors that had clinical nutrition education, or from a young orthomolecular doctor or GP. Familial beriberi - thiamine deficiency

I had two to three IVs per week the first year that included 500 mg of thiamine. The longest time without an IV was three weeks at the beginning of 2020 and eleven days at the end of 2021. Below is a 12-month summary, from a 55-year-old woman with unrecognized lifelong thiamine deficiency from a SLC19A3 gene defect.

Journal From Long Term, IV, High Dose Thiamine Therapy

My high-dose thiamine regimen began 11/21/2019. This is the Meyers Cocktail titration period:

  • 2 infusions of 200 mg of thiamine in 2 weeks in end of Nov. to Dec.
  • 5 infusions 300 mg of thiamine in 2.5 weeks Dec. to Mid Dec
  • 2 infusions 400 mg of thiamine in 2 weeks Mid Dec. to January.
  • 500 mg of thiamine 2 to 3 times a week were taken in the middle of January.

11/2019 Concerned about anaphylaxis. Only a few teeny bumps around lips developed and disappeared after the first day. Visual clarity is the first sign of improvement.

12/2020 – Foot neuropathy and trigger finger for 4 months, resolved with 7 IV’s spread out over 4.5 weeks. The IV thiamine doses were 300 mg or 200 mg. Dexa scan shows osteopenia in lower back and femur and only 3 lbs. of lean muscle mass, muscle wasting, a hallmark symptom of beriberi.

OATS test taken a day after HDT infusion – tested B1 borderline deficient. Borderline and deficient in minerals and vitamins except manganese, doctor thought something was wrong with lab.

1/2020 – Right mucosal lining was demyelinating and slightly bleeding for a month, saw glitter. Zonulin levels over 800, the doctor told me not to be concerned, but I was. Slight rectal bleeding.

An unintentional fast in cold weather caused syncope. Broke out in an intense sweat, became faint and lost appetite. Leaned against buildings every few feet to get home, no thiamine in am. Sitting on bench resolved symptoms. MCV increases to 100, normal range is up to 95.

Tested negative for panel of inborn errors of metabolism. Autoimmune panel negative except – Arthritis – equivocal, Thyroiditis- out of range, Epstein Barr – negative.

2/2020 – New formulation of phosphatidylcholine, with small amount of dextrose without B1 was a mistake.

On three-week break, nighttime driving vision had decreased. Resumed Meyer’s Cocktail after break, fatigued, fell asleep in IV chair after IV. Reduced thyroid medication from I grain a week, increased after break to 3.5 grains a week. A1C 4.8 increased to 5.2 after break.

Right quadrant of my upper teeth dropped down. Oral surgeon said “not pathogenic of disease”.

Last visit with Dr. Kunin. Concerned I looked just as depressed as when we first met. I was happy to see him, unable to express it. Continue a more DIY approach and TCM, “the Chinese have found ways to treat that western medicine has not figured out, and one day technology will be so advanced doctors won’t be necessary”.  He handed me the keys and said, “Figure it out on your own.”

3/2020 – Introduced high fat diet. Lost 3 lbs.in a week. Severe leg cramps from foot to shin. During an IV, felt leg cramping. Normal cholesterol increased from 260 to 400. Stopped diet. No B1 in fat.

4/2020 – Lowered stress from semi-retirement and resting. IBS starts to resolve for the first time at 55. Felt extreme chill one day.  Took injectables at another doctor’s office due to shut down. I took 100 mg B1 in a B complex in intramuscular (IM) with B12 to ease B1 ‘pinch’, plus IM biotin for a month.  Not as effective as HDT infusions.  Combination of B1 with complex and biotin had best results.

5/2020 – Meyer’s Cocktail and 350 mg of NAD back-to-back infusions lifted brain fog profoundly.  Able to do tasks I couldn’t perform prior. I cried with joy, my cells were not permanently damaged from past use of Effexor and antibiotics. Unable to replicate treatment. Oral Inositol reduced elevated triglycerides dramatically, then stopped working. IBS came back off and on.

6/2020 – Tested borderline low on calcium, choline, magnesium, B5, B12, Vit C, K2, zinc on a three month average. GI lab shows mal-digestion, metabolic imbalance, and dysbiosis. Stomach pain from psyllium and flax, phytobezoar build up, rash on neck since 2019 getting worse, insomnia resolved.

7/2020 – Severe anemia showing and severe muscle weakness. I couldn’t lift a 5 lb. weight. Acute memory loss, almost walked out of lab before taking the lab.  Waking up early in am in summer at 8:00.  Hemoglobin normal and then drops frequently, IV doctor sees bleeding. Ophthalmologist finds arcus build up from high cholesterol, strong arteries, and recommends latanoprost for glaucoma after field test.

8/2020 – Decreased parenteral 500 mg B1 to 300 mg to test if high dose thiamine is depleting B12. Began coughing after 7 days. Post NAD IV lab tested  B12 deficiency, causing hemoglobin and T3 deficiency.  Acupuncture treatment creates switch sensations throughout body allowing oxygen flow, heart channel under arm point pulsated – oxygen and lung channels communicate. Leg bruising – Vitamin C deficiency.  Insomnia came back when B1 parental dose decreased, never resolved fully after increasing B1.

9/2020 – ANS dysfunction – uncontrollable body flipping in bed two nights in a row, movements like a fish out of water.  Resumed 500 mg of prenatal B1 after two weeks at 300 mg. Ophthalmologist said “you look more alert”, compared to two months ago. Started IM Mic-B and hydroxocobalamin, 5 days a week. IBS-C decreased with B12 IM. Coughing on Lipothiamine, switched permanently to Allithiamine, cough resolved. Normal zonulin levels return, reduced gut inflammation. GI didn’t order endoscopy after I told him something hit my stomach when walking and had rectal bleeding. He wrote IBS on notes. Stopped EDTA IVs for cadmium after a few treatments, when urine began foaming.

10/2020 – Latent deficiencies appear: B12, CoQ10 malabsorption. B1 not absorbing. Vitamin C deficiency appears, lifelong subclinical scurvy, bleeding gums, gingivitis, pilaris keratosis, bruising, poor iron absorption, rectal bleeding, low tyrosine.  Sick people are low in B vitamins and Vitamin C.  Repeated thiamine depletions cause heavy Vitamin C deficiency in lung, kidney, thymus, and liver.

Tested positive for Intrinsic Factor AB, Pernicious Anemia (PA).  Hematologist defensive when I asked him if TD can cause anemia, cancelled next appt., told me to see a GI. Doctors booked from Covid-19 delays.

Oral surgeon cleared teeth shifting. Orthodontist ordered aligners, short teeth roots in scan.

Trialed compounded thiamine cream from Lee Silsby pharmacy and replaced TTFD.

11/2020 – Stomach pain increasing after meal. Twelve days in, I thought I was going blind. The thiamine cream wasn’t absorbing. Indoor and night vision blurry. Back to TTFD and Myers Cocktail together. My vision came back, but not as clear before getting blurry. Mild paradox reaction, a bowel movement in the middle of the night.

12/2020 – Endoscopy shows chronic gastritis, h. pylori and peptic ulcers. A combination of a lack of nutrients cause ulcers, including B1.  Refused triple therapy (antibiotics and PPI). Treated with cabbage, herbals, mastic gum.  ION Panel indicated GSH and potassium deficiency, lactic acidosis (TD), ketosis, oxidative stress, transmitter deficiencies and metabolic syndrome.

Elliot Overton of EO Nutrition interprets mitochondria in battleship mode, suspects mold toxicity. Unseen mold or water damage. Incontinence and frequent urination. Second ophthalmologist told me don’t take latanoprost. MCV high still high with regular IM B12, since 10/20. With small veins and bursting arteries, it’s difficult to maintain IV’s.

In 2020, my health was like my dad’s. My hearing and vision deteriorated, I was unable to hear people speak with masks on and had difficulties focusing on conversation in noisy rooms. Gingivitis developed into periodontal disease; teeth aligners require lifetime use. My dad is deaf in one ear, and now going blind in the second eye and had the periodontal disease the same year and wears dentures.

Observations at 43,500 mg IV Thiamine After 13 Months

Intravenous therapy can target issues in ways oral thiamine cannot reach.

Improved thyroid production, A1C, insomnia, IBS and CFS, overall energy level partially improved.  Foot neuropathy and trigger finger resolved.  Cocktails with phosphatidylcholine, iron, and NAD, had increased effects, latent deficiencies appear, no nutrient depletions from high-dose thiamine.

Infection, gastritis, ulcers during treatment caused malabsorption. Reducing thiamine caused insomnia to reoccur and acute vision reduction, increased ANS dysfunction caused temporary uncontrollable body movements.  Increased dose of 300 mg to 500 mg of B1 resolved uncontrollable body movements and regained vision.

I saw one patient vomit, and a patient have nausea during 300 mg B1 Meyers Cocktail.

ROS from unknown cause extends treatment into 2021.

High Dose Thiamine IV Therapy, Toxins, Diet, Labs, and Gigong

In 2021, I tapered to two IVs a week and increased the 500 mg to 600 mg mid-year. Hot flashes returned after 5 years of remission causing a three-month setback. Insomnia made me delirious and had to take naps. PEMF bio-mat calms the nervous system to assist in sleep, without it I’ll wake up a few times during the night. For over 10 years, I wake up and urinate once a night. My eyes became blurry and I walked slowly like an old lady for a short period. Daily clear phlegm wants to come out since 2020 when I eat.

In spring my bloodwork showed Stachybotrys and Aspergillus mold. I found growth on papers in a storage box against a wall with the laundry room on another side. Condensation went through the wall.

With my gut healing and IV therapy, my TBO antibodies levels reduced significantly. The increased T3 raised my steroid hormones. Reducing thyroid medication again was a real possibility. IBS-C was resolved by mega-dosing powder magnesium with fiber, B1 and B12. I once had an offer to see the world authority on IBS-C, though all I needed was a good form of high-dose magnesium. I was feeling better until I experienced unexpected setbacks.

Everything Changed With Two Major Endocrine Disruptors

Microscopic brick debris during construction flew under my windows. Debris flew inside over 50 ft. and landed everywhere, never thought my eyes and lungs could clear it. Due to an HLA-DQB1 gene defect, I’m unable to break down mycotoxins (mold).  Mold is an anti-thiamine factor and it oxidizes B1 and B12.

When inflammation started to calm down, my hallway went under remodeling, and material debris and paint fumes went under my door. The chemicals shut down my thyroid. Antibodies rose from 180 to 535. Inflammatory markers that were improving became elevated and deficient. My killer cell function, HNK1 (CD57) level was 50 and now 18.  The doctor thinks I have Lyme. I’m testing for MARCoNS, a staph infection that resides deep in the nasal passage, due to sinus inflammation from the biotoxins.

After trialing Cholestyramine for mold binding, it made me constipated. My acupuncturist gave me a two-hour treatment to undo the damage. To detox, I use an FIR infrared sauna on the mat. I’m getting an ERMI test kit to test other rooms, an air test hardly detected mold.

HDT Isn’t a Standalone Treatment

With the amount of IVs I took, I tested questionable foods. A few small gluten-free snacks put me into a comatose within 20 minutes. Less than two ounces of coffee initiated leg/foot cramping. I never had this problem a few years ago.  Removal of processed carbs is the only way I can maintain my thiamine storage.

Staying in mild ketosis, on a paleo diet is optimal for me. When I tried high-fat and vegan diets, they caused deficiencies. I have a nonfunctional gene cluster FADS1/FADS2, that requires the consumption of EPA and DHA found in seafood. Drinking concoctions of vegetables and minerals activate B vitamins throughout the day.  TD causes nitric oxide deficiency and I replete myself with nitric oxide greens.  My one kryptonite food is liver, it elevates my copper.  Using food as medicine supports my overall immune function as I recover from Chronic Inflammatory Response Syndrome.

My hydrochloric acid is deficient from TD, and I have low gastrin. I’ve taken 13,000 mg of Pepsin Betaine and feel no sensation. Apple cider vinegar doesn’t seem to work. My amino supplements aren’t absorbing.  I also have oxalates, Elliot recommends more B6 and I’ve increased molybdenum to meet my sulfur intake.

I take a blend of B1 that includes: 900 mg Allithiamine, 300 mg benfotiamine and 500 mg thiamine HCL. Over 900 mg Allithiamine and sulfur come up. Before a Meyers Cocktail, I’ll soak in magnesium salts. I’ve increased all the B’s and take them with other essential nutrients throughout the day in moderate to high doses. I require biotin intramuscularly every few weeks, otherwise my nails chip, this started last year. My transporter may be dissolving.

Utilizing Biomarkers and Managing Nutrients

Every six weeks I rotate biochem panels and adjust diet and supplements. My weaknesses this year have been lipids, omegas, aminos, and inflammatory markers. My B12 continues to pool due to suboptimal thiamine levels unable to utilize B12, so I stopped testing. I inject 35 mg of hydroxocobalamin a week, plus sublingual, and hemoglobin is always on the lowest end of normal after I had pernicious anemia. Mold is the suspect cause. I may also have scar tissue from ulcers and scurvy of the colon. The GI doctor recommends an endoscopy once every three years when there’s been a problem.

I’ve found nutrient panels reliable when B1 is extremely deficient. On two occasions my lactate tested normal. Then I had beriberi symptoms after I took the labs on the same day. This was from eating beans and walking in sun, which forced me to sleep. My citric acid markers were normal on an ION panel and I was in ketosis, but the clinician didn’t know I had POTS on the morning of the lab. This was from a three-day fast suggested by a doctor. Thiamine deficiency can worsen on a dime.

Diagnosed with TD on a SpectraCell micronutrient panel, I had long-term B1 deficiency. Normal B1 levels are misleading on my labs once there’s been intake. The Vibrant America panel showed B1 malabsorption at 35,000 mg of parenteral B1.  I’ll continue with this panel and monitor nutrients connected to B1.

My doctor’s friend offered me the two-part transketolase lab for research, but my doctor forgot to arrange the sampling. I was upset at the time, but it doesn’t matter now. I manage myself by how I feel. With Excel journaling, the more elements I add, the more clarity I receive. Observing physical changes are equally valuable to the labs.

A Revisit to Energy Medicine That Compliments Nutritional Balancing

I recently discovered group Primordial Qigong. I haven’t found any other modality that has the same restorative benefits that give energy instead of using energy. Movements connect the body, mind, and soul with the focus on living in the present. Gentle stimulation of systems and body parts creates rejuvenation from within. Who doesn’t want that?

Dysautonomia, the fainting prevention point, is taught in practice. The bank of hands faced together inverted pushed downwards from the forehead over the philtrum encourages balance. Made for masses with no resources, it only requires continuity. This is a welcoming alternative compared to the nutrient-depleting therapies, recommended by for-profit western doctors that made my health worse when they didn’t know what they were dealing with.

At 100,000 mg Of IV Thiamine – It Feels Like I’m on a Train I Can’t Get Off

Overall, the quality of my life has improved. I no longer need to lie down and sleep during the day, even if I feel tired. I’m more active in mind and body. I can sit up and read, wake up earlier, and exercise. My processing speed and speech are faster. The left side of my brain is strengthened. I did audits on my condo association to trace missing dues and one over BlueCross when many claims were unpaid. My brain fog had been too severe to do this previously.

Neuropsychiatric issues appear in less frequency. I still experience forgetfulness and minor learning impairments. Irritation is manageable. I believe some brain function is permanently damaged along with hearing loss. Considering my long-standing history, I’m pleased with the results even though it is only a partial recovery.

Since my body called out for a high dose, there’s a chance I can regress. At 11 days off the IVs, I was deficient in Co2. I don’t know if the thiamine coenzymes can function without high-dose therapy because of my genetic liability. I’m patiently waiting to see how my body changes after the toxins are eliminated and figure out how to taper down from the IVs.

Final Thoughts

Thanks to Dr. Marrs and writers on HM for elucidating thiamine awareness, I learned how to use thiamine as a drug at a time when I needed it most.

Through luck, I found nutritional clinicians that made a significant difference in my health. Educated in Dr. Lonsdale’s thiamine research, they applied his nutrient-based knowledge into their practices. Understanding that beriberi still exists today and is not an ancient scourge from yesterday, is critical.

By assimilating the genetic impact of beriberi and orthomolecular dosing, I’m regaining health in my late fifties. However, no patient should have to spend a lifetime finding a treatment based on luck. There’s no reason to it’s all here: Thiamine Deficiency, Dysautonomia and High Calorie Malnutrition, Derrick Lonsdale and Chandler Marrs; www.orthomolecularmedicine.org

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This article was published originally on February 14, 2022. 

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Maple Syrup Urine Disease at 52 Years of Age

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There are some rare diseases that appear at birth known as inborn errors of metabolism. Their symptoms are nonspecific in most cases and each of them is unrecognizable clinically, with some exceptions. All of them are genetically determined. Most of them can be spotted from a tiny sample of blood that is sent to a central laboratory in each state in the United States and is known as “a screening test”. Perhaps the best known in the general population is one called phenylketonuria, also known as PKU. This disease is estimated to occur once in 10,000 births. If the infant is placed on a special diet he or she can grow up to be normal. If the diet is not initiated, as close to birth as possible, the infant will become intellectually disabled. This obviously emphasizes the importance of the screening test. Another of these rare diseases is known as Maple Syrup Urine Disease. It gets its name because the urine smells exactly the same as the characteristic odor of maple syrup. Although the abnormal genes responsible for the disease are known, the cause of the odor is not. It is just as deadly as PKU, but is estimated to occur only once in 100,000 births. The diet restrictions are extremely complex, involving protein metabolism.

An Infant with Maple Syrup Urine Disease

Fifty-two years ago, when I was a pediatrician at Cleveland Clinic, a physician from southern Ohio called and spoke to the secretary of the Department of Pediatrics. He said that he had an infant boy that he would like to refer because he smelled most peculiar. The secretary made a provisional diagnosis of Maple Syrup Urine Disease (MSUD) and assigned the case to me. It became a departmental joke because she was absolutely correct. There was no available commercial diet for a rare disease of this nature. It had to be constructed from scratch. The mechanism for the disease had only been described relatively recently. Because the genes control some important aspects of protein metabolism, the abnormality makes it necessary to devise a severely restricted protein diet. If such a patient has too much protein, the metabolic abnormality causes severe brain dysfunction, usually resulting in  seizures and death. Well, such a diet was constructed and I was able to preside over his health for several years. As the family hailed from West Virginia, I inevitably lost sight of him. With the best of care, accurate treatment for such a complex problem is impossible. If the infant survives, it can be expected that there will be some degree of intellectual disability.

Half a Century Later

To my extreme surprise, I recently received an email from a physician in Virginia. He had been able to locate me through another physician who was known to each of us. He informed me that my former patient was now 52 years old and he had this extraordinary story to tell.

The physician, who had special knowledge of this kind of disease, said that he  had been called to see the patient (JD) who was 30 years of age at that time and in a state of coma. The mother of JD was in possession of the details of the original diagnosis and his history. Evidently he had not remained on the restrictive diet, a fact that itself was unusual. However, his mother had given him “lots of fruit juice” if ever he had, as she described it, “acted drunk”. This, of course, had removed the dietary protein until stability returned. He had had no unusual crises until a strep throat had affected his abnormal metabolism and precipitated coma. JD was moved to a hospital where the proper treatment was established under the care of the consulting physician who had continued to follow his course. He told me that JD is able to carry on a reasonable conversation, fits in well with his community, mows the church grass and is a firm fan of NASCAR. He developed gout in his 40s and has since developed type II diabetes.

Lessons to be Learned

This genetically determined disease is caused by failure of an enzyme that has an integral part to play in protein metabolism. As has been mentioned a number of times in posts on this website, many enzymes require a vitamin and/or a mineral, known as a cofactor to the enzyme. The defective enzyme that causes MSUD requires thiamine and magnesium as cofactors. But, as has also been mentioned in other posts, both are vitally important in sugar metabolism. Gout has long been known to be related to an excess of sugar. The disease was common in Port drinking military officers in the British Indian Army before India became independent. Port wine has a high sugar content in addition to the alcohol. We also know now that thiamine in large doses is vitally important in the treatment of both diabetes and brain disease caused by alcohol. It is logical to conclude that JD really requires therapeutic doses of thiamine and magnesium as epigenetic stimulants to the defective enzyme, at least on clinical trial. This conclusion is reached because other enzymes that require thiamine and magnesium appear to be affected, besides the one responsible for MSUD.

Stressors Evoke Metabolic Crises

Those who have followed some of the posts in this website will be aware that an infection can act as a stressor. So it was no surprise that JD succumbed to a metabolic crisis as a result of contracting a strep throat. In previous posts we have tried to point out that an infection constitutes an attack on the organism and can therefore be thought of as a source of stress if the exact meaning of that word is applied. It was no surprise to me to hear that he had contracted gout and diabetes in addition to MSUD.  Also the truly amazing thing to me is that no thought has been given to why a person with a rare, genetically determined disease has also been affected by two other diseases without thinking that they probably have a cause that is common to all three. He is being treated with a drug for gout and another drug for diabetes. Both gout and diabetes are related to sugar metabolism that is highly dependent on thiamine. The defective enzyme responsible for MSUD requires thiamine.

The point that I am trying to make is that it is the underlying biochemistry that is rapidly becoming vitally important in diagnosis. Yes, it is true that MSUD is a rare and exotic disease, but understanding its underlying principles enables us to think whether these principles are implicated in common diseases. To believe that two or three separate diseases can occur at the same time in one individual is reduction to absurdity, without thinking that they have a common relationship. I passed this idea to the physician who had contacted me and it is his decision whether he tries it or not. The outstanding reason for doing it is that it is impossible to do harm, even with megadoses of thiamine. It would also be a cheap experiment and the only two outcomes would be either some success or no change in the patient’s mental capacity.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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This article was first published on August 10, 2016. 

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Ondine’s Curse: When Breathing Is No Longer Automatic

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Ondine is a mythological figure whose tale goes back to the ancient Greeks. She is described as a water nymph who fell in love with a mortal male. He is said to have eventually jilted her, causing her to curse him. She abolished automatic controls in his body so that he had to remember them and control them consciously. This included automatic breathing. Eventually he became so tired that he fell asleep. Automatic breathing ceased and he died. The Ondine character has appeared and reappeared throughout history and must have represented a phenomenon that had been observed many times as a cause of an inexplicable sudden death at night.

Automatic Breathing, Apnea, SIDs, and Ondine’s Curse

The human brain is connected to the spinal cord by means of a part of the brain called the brainstem. It contains nerve centers that deal with the control of automatic breathing. These centers are connected, through the autonomic nervous system, to the muscles and organs that control breathing, explaining why breathing continues without our having to think about it. It is an automatic life-sustaining process. Of course, we can interrupt the automatic mechanisms voluntarily. We can hold the breath, cough and laugh, examples of an important relationship between the voluntary and automatic mechanisms of a complex nervous system. If a failure occurs in the centers in the brainstem that control mechanisms of automatic breathing, this action ceases. Of course, when we are asleep, our voluntary control of breathing stops and we rely on the brainstem centers to control automatic breathing. A genetic defect in the brainstem centers causes a rare disease that has been called “Ondine’s Curse”. The patient can breathe voluntarily but automatic breathing ceases intermittently during the night, sometimes causing awakening with a startle. Life expectancy is short and the affected individual may die suddenly during the night. Many people reading this will become aware that I am also describing sleep apnea, which is really a less severe example of the same thing. Sudden infant death syndrome (SIDS) has a similar history.

Thiamine Deficiency and Brainstem Function

It has long been known that the lower part of the brain that includes the brainstem is highly susceptible to metabolic breakdown from thiamine deficiency. This metabolism is governed by an array of genes, some of which are activated in response to hypoxia (lack of oxygen). Because thiamine is absolutely essential to the consumption of oxygen (oxidation), lack of this vitamin is sometimes referred to as pseudo-hypoxia (false lack of oxygen). Therefore, a genetic defect in the automatic breathing mechanism might be affected by either hypoxia or pseudo-hypoxia, strongly implicating that a damaging effect might arise from either one, the other, or both together in combination.

I have successfully treated sleep apnea and threatened SIDS with pharmacological doses of thiamine and magnesium. A genetic error may not be a self-sufficient cause, requiring the addition of thiamine deficiency to precipitate the disaster. Now that we have the science of epigenetics (the ability of nutrients to react with the gene defect), it is, in my view, mandatory for a physician facing a clinical problem of this type to use pharmacological doses of thiamine and magnesium empirically. Even if it does not work, it can do no harm and might just save the day. To my knowledge, there are no pharmaceutical approaches available and it is unlikely that there ever will be unless the technique of gene replacement becomes a reality. Thiamine treatment even then should be the first line of approach because it is totally unstressful, nontoxic, cheap and I have seen some dramatic responses in my practice.

A Patient with Ondine’s Curse

Many years ago I had the care of a 12 year old girl who suffered from this disease. She was the child of a first cousin marriage and had lost two brothers from sudden death at night, so it was clearly genetically determined. I cannot remember the details, except that she was forced to use mechanical breathing assistance. As would be expected, she subsequently died. One day when we were studying her case, I was walking through the pediatric ward and noticed that she was sitting on the side of her bed. Her hands were raised in front of her with the fingers widespread; her eyes were staring and she was cyanotic (blue skin color). This was the position of great anxiety or panic, representing a fight-or-flight reflex. When she received oxygen administration, the cyanosis disappeared and she relaxed.

The Fight-or-flight Reflex

In many posts on this website, we have indicated that we have two types of nervous system. One enables us to move at will. The other one, known as the autonomic, is automatic and almost totally involuntary. This system, controlled by the lower part of the brain, including the brainstem, enables us to adapt to environmental change and governs the mechanisms for a number of important life-saving reflexes, the fight-or-flight being the best known. It can initiate mental and physical activity when a person is placed in a position of danger. It is not clear how the decision is made for flight or fight and this may depend on other factors in the personality of the individual. For example, a soldier may race up a hill, capture a machine-gun post and not know that he had a finger shot off in the process. It can imbue a feat of strength that enables a mother to lift the front end of a small car off her child who has been run over. Oxygen lack, as being experienced by my patient, was obviously exceedingly dangerous to her and fired the reflex, demonstrated by the characteristic positioning of panic. I treated this patient with thiamine, without effect, but had no regrets because I tried and there was no other treatment known.

Brain Chemistry and Genetics

The lower part of the human brain works rather like a computer or an information processor. It receives messages from the outside environment and signals the body organs through the autonomic nervous system. It is in constant communication with the rest of the brain. One of its important tasks is the maintenance of appropriate breathing. In the brainstem there are a series of cellular collections that since the status of oxygen concentration in the blood, thus enabling an adjustment in breathing appropriate to the oxygen concentration of the surrounding air. These centers are also sensitive to the efficiency of oxidation, the consumption of oxygen in the synthesis of energy. The first cousin marriage strongly suggests that my patient and her siblings succumbed to the effects of a genetic error. Aside from a genetic cause, one of the well-known weaknesses within this system is that this part of the brain is highly sensitive to a deficiency of thiamine, illustrated by the following case.

Mountain Sickness and Brainstem Thiamine Deficiency

A 75 year old woman came to my attention with a curious story. Every two weeks she would indulge in square dancing. On returning home she would succumb to a feverish episode that would last for several days. These episodes had, of course, been treated as infections, with little or no thought given to the association with square dancing. Laboratory studies revealed that she was deficient in thiamine, but in addition she had an abnormally high red blood cell count and hemoglobin. This is known as hemoconcentration and it would be expected to occur as an adaptive response to living at high altitude. In other words, an increase in hemoglobin and red cells would compensate for the low concentration of oxygen at high altitude. I concluded that the febrile episodes were an imitation of a well-known phenomenon known as mountain fever. Her brainstem was behaving as though the ambient oxygen concentration was equivalent to that of high altitude. However, the hemoconcentration compensation was insufficient because she had pseudo-hypoxia from thiamine deficiency.

Mountain fever occurs in people that have difficulty when they ascend to altitude and are said to be unfit for mountain climbing. Here was a woman that was developing this phenomenon at sea level. My explanation was as follows: her brain was marginally deficient in the vitamin necessary for oxidation and energy production for ordinary everyday purposes. The square dancing represented an additional consumption of energy for which some chemical adjustment had been made in her own system. Because this was insufficient the febrile episode imitated mountain sickness. These episodes disappeared after she was treated with pharmacological doses of thiamine.

Variation in Symptomology

It is obviously important to point out that this patient did not have Ondine’s Curse, even though oxidation was compromised in brainstem. Neither did my patient with Ondine’s Curse have mountain sickness. It represents an enormous difficulty in defining a clinical situation where two conditions are represented in different ways, although the underlying mechanism is similar if not identical. If this is the truth about disease, the symptoms that develop really represent an alarm system that has to be interpreted in terms of the underlying biochemical cause. Perhaps the focus on genetic causes may be too narrow and this seems to be true in cancer research. There is insufficient attention to epigenetic influence of nutrients on the action of genes and more attention should be paid to the nature of energy production in the mitochondria. Although both patients in this post had a widely different presentation, the underlying mechanism was similar if not identical.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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Image credit: Arthur Rackham, Public domain, via Wikimedia Commons.

This article was published originally on June 25, 2018.

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Parasites Ate My Thiamine!

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I’m a 36 year old male and I’ve probably been thiamine deficient my entire life. Everything about my body has always just been a little bit different compared to everybody else. I was always weaker, less coordinated, skinny, sickly, slow, low testosterone, always clammy to the touch, prone to mood swings, occasional hallucinations, and nightmares every single night. This was the only experience I knew and it never occurred to me that any one particular thing could be the underlying cause for this rogue’s gallery of symptoms. I took these challenges in stride, worked hard to overcome them all, and for the most part was a reasonably healthy person. However, nothing could prepare me for the nightmare experience that is dry beriberi deficiency caused by a parasitic babesia infection.

At age 33, my body began to rapidly deteriorate and present a wide variety of confusing symptoms such as intense nerve pain, aching joints, rapid temperature fluctuations, full blown panic attacks that made me want to pass out, confusion, upset stomach, nausea, vertigo, and mild hallucinations again. I went from being relatively healthy to having all of these symptoms in less than 72 hours. This was the start of a 3-year medical odyssey to discover the cause. I got very lucky with tests twice during this journey. At the 2-year mark a neurologist discovered that I was thiamine deficient. Then, at the 3-year mark, my internist discovered that I likely had a parasitic infection of babesia. This is my story.

Early Childhood Illness, Abuse, and Diet

I was born jaundiced and generally very sickly. This shouldn’t have been surprising given that my mother smoked and drank during the pregnancy. The first 3 months of my life were marked with difficulty eating and or keeping food down. In my early childhood, let’s say the ages before 7 years old, I was also prone to frequent ear infections and never grew out of wetting the bed.

My home life was also very abusive. I suffered from lots of neglect, emotional abuse, physical abuse, and thankfully only mild sexual abuse. Given the bad environment, I adopted a number of violent maladaptive behaviors and psychological issues. The night terrors came first. Then I started to hallucinate and see ghosts or demons. It was mostly visual hallucinations but every now and then they would talk or communicate without words. My extremely evangelical caregivers were not impressed by this and finally brought me to a series of psychiatrists.

I was given varying diagnoses which included Oppositional Defiant Disorder, antisocial personality disorder, borderline personality disorder, ADD, and/or schizophrenia. I was forced to take six different SSRI or antipsychotic meds before I was 12 years old. The only one I can actually remember is Tofranil (Imipramine), which I would later learn causes thiamine deficiency.

During this time I also started to experience rather severe migraines and rapidly decreasing visual clarity. My optometrist thought that he had discovered a massive tumor in my head but thankfully it was just a pseudotumor. This is another rare disorder that I did not fit any of the traditional demographics for. I would later learn that this is a symptom both of thiamine deficiency and several tick-borne illnesses. The pseudotumor was treated with bimonthly spinal taps such that I had received at least a dozen before I had turned 12. Some of them had to be anesthetic free for some reason too. After I began to get uncooperative with the spinal taps, the doctors recommended loop diuretics. This is another thing that I would later learn drains thiamine from your body.

The loop diuretics forced and unexpected change upon my system and highlighted a problem that I had never really considered before. Prior to being on diuretics I was drinking somewhere between 6 to 10 sodas per day, usually Pepsi or ginger ale. This was on top of eating a diet of mostly processed foods and desserts at every single meal. All of this was very normal to my parents and grandparents who were Boomers and Greatest Generation respectively. They didn’t grow up on high fructose corn syrup and probably didn’t have the best understanding of the danger that processed foods brought. I don’t know how much of my problem was influenced by soda, but I do know the soda definitely didn’t make things better. Looking back, this kind of diet is absolutely insane. However, it was also very common in my community and so I never thought to question what I was eating.

At age 13, I contracted pneumonia but did not have a caregiver at the time. I just had to deal with it for a couple of months. This would eventually lead to a change of custody and a massive change in medications. My father is a traditionalist and he never believed in any of the SSRIs that my mother had me take. When I moved in, I was cut off from all medication entirely including the diuretics. I stopped wetting the bed after 3 days and have never done so again. I also began to quite rapidly feel better.

Despite all of this, my teen years were comparatively more normal. I played football despite not being particularly athletic and hurt my back in a way that would catch up to me decades later. My mood leveled out and my hallucinations faded. I did have an atypical puberty. For some reason I developed gynecomastia and had no facial hair. I was always skinny and it was much harder for me to build muscle than it was for the other guys. I was also almost always cold even at extremely high temperatures. I found myself getting sick and shaking in 72F. However, weirdly I almost couldn’t feel hot at all. Little did I know then that many of these issues were probably symptoms of low testosterone which was probably caused by the low thiamine.

Insomnia, Nightmares, Zoloft, and Exceedingly Low Testosterone

I suffered from really bad insomnia in college because I was terrified of going to sleep. My nightmares were so bad that I preferred just being awake. They were also very specific and complex.

Much later I would be prescribed Zoloft for depression, which is yet another thing I can drain thiamine from your body. It worked quite well until I missed six doses due to travel. Afterwards, I could never quite get back on the medication right. I wanted to discontinue use of Zoloft but my psychiatrist insisted on doubling or tripling the dose instead. We had a disagreement and because of that I was forced to quit Zoloft cold turkey at age 29. It was a profoundly miserable experience and at the time the worst thing that I had ever felt. It was much worse than child abuse.

It took me about 6 months to stabilize from Zoloft withdrawals and then something else weird happened. I started showing symptoms of bipolar disorder but mostly mania. I was extremely aggressive, energetic, could not sleep at all, and hypersexual. I still had my intelligence about me so I noticed these changes and I knew something was wrong but didn’t know what.

I took the advice of a friend and decided to also get my testosterone levels checked. The testosterone tests revealed a level of 34ng/DL. For reference, this is off the charts low. This isn’t even 10% of what would normally be considered low. I also recognize that my symptoms of extreme energy and hyper-sexuality are kind of the opposite of what you would expect from low testosterone. Thankfully a urologist treated this with Clomid and anastrozole. Symptoms disappeared almost overnight.

The next year my L5 S1 facet joint broke and I suffered a debilitating disc slip for seemingly no reason. My only guess at this point is that perhaps I suffered an injury from football that only manifested itself later as an adult, or perhaps my body was truly failing and I didn’t know it. It took 18 months to reach full recovery, but I did achieve a near miraculous full recovery thanks to disciplined exercise.

The Bottom Falls Out

All of the aforementioned struggles combined pale in comparison to what awaited me in the winter of my 33rd year. My urologist instructed me to discontinue use of both clomiphene and anastrozole without any weaning. I think this stress on my body was the straw that broke the camel’s back.  About three months after discontinuing the use of my medication, my entire body basically went on strike within 72 hours.

It started mildly with just a feeling of being more tired than usual. Then I started having a hard time keeping my food down. Next I noticed that my joints were starting to sprain somewhat easily and I was almost always cold. The symptoms were milder than most seasonal colds and were maybe comparable to just not getting enough sleep. Then suddenly, out of nowhere, on day three I had the most intense panic attack of my life. It was the most intense fear that I have ever felt. I felt that I was imminently about to die and that these were my last moments. The fear was deep and profound as if my body was recognizing some important process just got turned off but I had no idea which one or how to fix it. This attack also immediately coincided with vertigo bad enough to force me to lay down on the floor and wait for it to pass. Thankfully, the entire event lasted less than a minute. Sadly, it would not be the last time this happened.

I would continue to have panic attacks similar in nature to this over the next few months. My mental health almost immediately crumbled despite my best efforts. It felt like the emotions of agitation, irritation, and paranoia where artificially cranked up to their maximum. My mind was moving a million of miles per hour but it was mostly some sort of deep irrational fear. To make matters worse, after the first day I was hit by not fatigue but rather full blown exhaustion that left me nearly unable to move. Then the cold spells hit.

My body started going through hypothermic episodes for no clear reason. I would drop from 97.7F (my normal) down to his low as 94.8F within a matter of minutes. I only know this because my wife is a former nurse who decided to take my temperature after I had complained enough. After seeing sub 95F temperatures her expression went from frustration to deep concern. Hypothermia was a painful experience that would also light up all the nerves in my hands and feet. It often came with mental confusion, agitation and at least a few times hallucinations. Seemingly nothing could warm me up either. No amount of blankets or clothes or heating pads made any difference. The only thing that seemed to work was a really hot bath and that would only work while I was in the hot water. These episodes were scary.

The next day, I started to experience burning feet. Both of my feet suddenly felt weak and as if they were being burned by a cold fire or perhaps an electrical burn. I had no idea of what was going on at the time but this is actually a classic symptom of dry beriberi onset. At this point everything was just way too intense and I felt like I had to seek medical care. This was the start of a very long medical odyssey.

Over the next 6 months I would bounce around between about a dozen different specialists who had various degrees of skepticism about my symptoms. A truly huge number of doctors were instantly dismissive. I got a lot of hand waves of this just being stress, or a mental disorder, or that I just need to take a vacation. The dismissal of symptoms became even more prevalent when every test I was given indicated not only that nothing was wrong but that my blood work was much healthier than normal. Eventually, I saw a pituitary endocrinologist who felt that the symptoms I was experiencing could be related to the testosterone drop. So we did a series of labs while on Clomid and then while off of Clomid to see if anything was being pushed out of balance. There was absolutely no difference between the tests, other than T levels, but I felt much better on Clomid. I felt like I had been cured after resuming Clomid for about 2-3 months. Sadly, this was a false hope. Before we move on to the next section I wanted to mention my back again. During the 6 months of dealing with exhaustion and various body pains every day, I was not able to maintain my disciplined exercise schedule. So while nothing was injured during that time, I now realize almost all of my supporting muscles were probably very weak.

A New Low

My wife convinced me to go on vacation to celebrate my recovery into good health. This might be the last vacation that I ever will ever get to take. About two days into the vacation, my left hand suddenly got De Quervain’s tenosynovitis. My right wrist started suffering from severe tendonitis about 12 hours after that. Then I started feeling a burning nerve pain in both hands. Both of my hands were limp, weak, painful, pale, and in braces within 48 hours. The old familiar feelings of exhaustion, confusion, and difficulty keeping my food down returned the day after that. I foolishly decided to try to finish the last few days of my vacation and get healthcare at home. For some reason, I didn’t connect the issues with my hands to my greater health problems and instead had assumed that perhaps I use them too hard while on vacation. I don’t know, maybe I was getting old and could not go for as long anymore? Maybe I tweaked them by lifting heavy luggage or playing the Switch on the plane? It probably didn’t help that I was getting increasingly delirious too. I made a huge mistake during the next few days of the vacation and hurt my back very badly. This is perhaps the biggest L of my entire life. This back injury never healed properly because I was suffering from thiamine deficiency and a babesia infection at the same time. My body just had no ability to heal, so I was left semi-bedridden.

Upon returning home, I once again immediately sought medical assistance wherever I could get it. Orthopedic clinics were very confused with my hands. They had symptoms similar to carpal tunnel and bad tendonitis, however no MRI or x-ray would ever show even mild versions of such things. My nerve conduction studies were also very normal, which is surprising. Most of the doctors once again recommended mental help but were willing to sign me up for physical therapy to see if that made a difference. I did physical therapy for about a year and never got consistent results. I did sometimes get stronger but that strength was easily lost if not maintained. Any minor injury could set me back for months. I felt like my joints just wouldn’t heal.

Discovering Thiamine Deficiency

I continued to push forward and request more tests from more new specialists to try to figure out what in the world was going wrong with me. I’m going to be honest with you, I was terrified. I had no clue what was going wrong and could tell that none of my doctors did either. After nearly a year of begging doctors for various tests that revealed nothing, I finally gave up and accepted that I was crazy. The first step in this process is to get evaluated by a psychiatrist. I’m thankful every day that I went to see a truly S-tier psychiatrist who sincerely listened to my story. My psychiatrist was not convinced that my problem was a traditional mental disorder. He said that I had some very abnormal labs with my testosterone levels that could not be faked even with the most severe of mental disorders. So he recommended that I see several other specialists including a neurologist before he was willing to move forward with any kind of diagnosis of his own.

The neurologist I saw was equally helpful. He actually believed the symptoms that I described and believed that while I was stressed, I wasn’t mentally ill. The neurologist told me he believes I have a neurological problem but he doesn’t know which one. He put me on an ultra-priority referral to the best neurology clinic in the state and ordered 15 different very rare and unusual labs. He told me that my problem was probably weird and that the specialist he was referring to would probably want at least some of these labs already done. All of the results were perfectly normal except… my thiamine levels were low. This neurologist actually called me about 30 minutes after the lab results came back to tell me to go buy thiamine supplements and take them immediately. I felt a tremendous improvement in all areas within 24 hours of starting supplementation. At the time, I immediately knew that we had found the thing that was causing me all this suffering. Or at least I thought I did. As it would turn out, there was one more surprise in store for my medical journey.

Something Still Wasn’t Right

Now knowing my issue, I immediately researched everything I could about thiamine deficiency and reached out to the handful of experts on planet Earth that exist for this rare disorder. That’s how I got in touch with Dr. Chandler Marrs who not only runs this website but was also able to give me a lot of helpful advice. The next year of my life was basically me thinking I was right around the corner from getting cured now that we discovered I had a thiamine deficiency. There was also some element to trying to figure out why I was thiamine deficient because I didn’t meet any risk factor or demographic for it. During this time I have come to believe that my family possesses genes that aren’t as good at processing thiamine as normal. I think that for almost my entire life I was dipping in and out of mild thiamine deficiency and had no idea it was happening.

I spent a year trying to recover to normalcy but failed spectacularly. I couldn’t seem to quite shake all of the symptoms despite the thiamine supplementation. I was probably just too happy that the constant 24/7 burning hands finally ended. I spent pretty much all of the previous year feeling like my hands were burning and almost no medications would make it stop. It was really difficult to sleep or focus when you feel like you’re on fire. Being relieved from this probably skewed my perspective away from having any more objective take on my situation. While my symptoms were lesser, they were still inconsistently present.

New symptoms began to appear too. I noticed that all of my joints were even weaker. It felt like my connective tissue was falling apart and my muscles were all so atrophied. I had assumed this was from the inactivity due to exhaustion in the previous year or just some lingering nerve damage. However, another year of healthy living, proper supplementation, and all sorts of physical therapy made no difference to my situation. In several ways my joints actually got worse and weaker. It became incredibly easy for me to sprain ankles, strained my hands, get tendonitis in my wrist, or even experience a lot of pain in my knees and hips. This pain continued to spread until it was affecting basically every single joint in my entire body. At this point I returned to seeking medical care and was pretty uniformly told that I should be instead seeking mental health care.

Stubbornly, I decided to work only with the handful of doctors that believed I did not have a mental disorder. I also begged them to give me a wide variety of unusual tests for rare disorders. I knew that whatever this problem was, it had to be unusual. One of these random tests actually popped positive for something interesting. I was positive for a babesia and bartonella infection but did not have Lyme or any other tick-borne illnesses.

Parasites

Babesia aren’t even bacteria. What I had was technically a protozoan infection. These ultra-tiny parasites live inside your red blood cells. They have also been known to take up residence and intracellular spaces, joints, and sometimes nerve tissue. It was extremely difficult to find even a single infectious disease doctor was willing to take me as a patient. Most of them did not feel qualified to treat this particular type of infectious disease. I did find one however and she did believe that my symptoms were within the ballpark of a babesia infection. She believed the bartonella may have been a false positive. Unfortunately we were not able to confirm this diagnosis with repeated testing with local labs, though it should be noted that both babesia and bartonella are extremely difficult to test for. We decided to move ahead with treatment for babesia given that the treatment was just a round of antibiotics that had relatively low risk. There was definitely some risk given that I was already thiamine deficient. Many of you reading this website or article are probably already thiamine deficient so in case you didn’t know, antibiotics tend to really disrupt thiamine absorption and make beriberi worse. However, I decided I certainly wasn’t going to be getting any better as long as these parasites were in me. So I worked with several doctors including Dr. Marrs, to come up with a plan to protect my gut biome as much as possible during this process.

The babesia treatments were almost immediately successful. Within 48 Hours of starting antibiotics, I already felt much better. About 3 days after taking antibiotics, I stopped having nightmares entirely. I used to have nightmares every single night and suddenly they just stopped. After completing the entire course of antibiotics, I overall felt much healthier. My body was still weak, my muscles still atrophied, and my joints still in pain, however they suddenly felt as if they were improving and also recovery times were much faster. The biggest improvement is that my recovery times are now probably about two or three times what a normal person’s would be for the same activities. Even that is probably still 10 or 20 times better than where I was before. My tolerance to cold got better and the last of my lingering minor mood swings disappeared. I started feeling good enough to resume physical therapy and this time I think it’s actually working. The strength in both my hands, my knees, and my back are slowly improving this time. I fear that a 100% recovery is probably impossible from this much damage. However, I would be happy to hit about 80% again.

Parasites Probably Ate My Thiamine

So how did this happen? That’s a question I ask myself almost every single day now. Babesia is about as well researched as thiamine deficiency which means that there’s very little research about either of them. They barely even have standard treatment protocols. However, in my deep readings I did discover that a babesia infection can cause low testosterone and thiamine deficiency. My peasant non-doctor understanding is that babesia and other tick-borne illnesses will actually sap thiamine directly out of your bloodstream. They can also cause SIBO, which is known to lower thiamine absorption in the stomach as well. This is of course on top of damaging joints and causing a great deal of mental stress, which increases my thiamine need. All of these are ultimately systemic problems that can disrupt not just thiamine absorption. I now know that my family absorbs thiamine worse than other people. So my assumption is that I have probably been somewhat deficient my entire life and this babesia infection was the perfect straw to break the camel’s back and send me into full blown thiamine deficiency. It’s also entirely possible that given my incredibly low income and frequently outdoors upbringing, that I had contracted babesia as a child and had carried that infection with me my entire life. Maybe even my body got used to it? It’s also theoretically possible that it could have been congenital. I really don’t know how I contracted a super rare tick-borne illness but I do know that it was the perfect thing to sap the tiny bit of remaining thiamine of my body.

Between the two, I think the thiamine deficiency caused much more severe problems for me than the babesia infection. Moving forward, I’m just going to keep supplementing, testing to make sure the infection doesn’t return, sticking with physical therapy, and hope that it all works out in the long run. I’m 36 years old now which isn’t young but in the medical field I’m told it’s young enough to have a much better chance of recovery than most patients. It is frustrating to know that this kind of recovery will take years instead of months. Thankfully, I still have plenty of discipline to keep pushing through.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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ASD, Seizures, and Eosinophilic Esophagitis: Could They Be Thiamine Related?

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My 18 year old son has ASD and has had a seizure disorder since he was 6 years old. He has tried virtually all anti-epileptic drugs. Either the side effects were unbearable, they made his seizures worse, or had no effect on his seizures. He was diagnosed with Eosinophilic Esophagitis. He is underweight and of short stature, and always has been. Mitochondrial tests show that complex II is working at 26% capacity. He is also autistic. He has tested positive for folate receptor antibody.

Over the years he has done several rounds of antibiotics, including Flagyl, which I have since learned that it significantly depletes the body of thiamine. He has also taken several rounds of Diflucan, Azithromycin, Vancomycin, Augmentin, Amox for various issues including candida, clostridia, gram negative gut bacteria, etc.

He is currently on Lamictal and just started Briviact for seizures. The Briviact causes anger and aggression issues. He currently deals with OCD tendencies. He was recently found to have bone density of 2.8 standard deviations below normal. This falls in the range of osteoporosis, but he has not been diagnosed with it because of his age.

He eats fresh and a lot of dried fruit, meats, raw and cooked greens, white rice, lots of cooked veggies, eggs. He also takes Lipothiamine 100 mg/day, Magnesium 550 mg, a multi-vitamin, calcium, vitamin D, and K, all at the direction of his doctors.

Childbirth and Infancy

M was born on July 9th 2005 7lbs 9oz. He was full-term. I had high blood pressure at 41 weeks and labor was induced. He would not drop into position and he became distressed and so was delivered via cesarean while I was under general anesthesia.

He spent 4 days in the NICU because he aspirated meconium and would not latch to feed. While in the NICU, he was administered antibiotics. He was formula-fed, not breast-fed.

As an infant, the large size of his head was somewhat of a concern for the pediatrician. He was administered vaccinations according to the CDC guidelines for the first 12 months. He had infantile spasms off and on. He spiked a fever for every vaccination. Tylenol was administered. He received 3 doses of flu vaccine, accidentally, within 3 months.

He did not sleep well, and still doesn’t.

Initially, he was very precocious. As an infant, he would put puzzles together that were for much older children. He would complete sorting activities that were well beyond his age range. He did not babble and eye-contact was fleeting.

After his 18 month vaccination, he lost just about everything within 2 weeks. After these vaccinations, he couldn’t do his puzzles, bring food to his mouth, smile, couldn’t stand to be read to when he previously loved to be read to. He also developed a sensitivity to light and sound and cried a lot.

At 24 months, he was diagnosed with profound autism.

PANDAS/PANS and Eosinophilic Esophagitis

At age 10 years, he abruptly lost skills again and it was thought he had PANDAS/PANS as he had several strep infections treated with antibiotics. He did a several month long courses of Augmentin or Azithromycin to treat PANDAS/PANS. He had a severe trauma at age 11. He was horrifically abused by a school employee.

He has always been of short-stature nearing 5th percentile for height, and slightly overweight for his age, until age 14 when he started having symptoms of Eosinophilic Esophagitis. He was diagnosed with EoE at 15 and has struggled to keep his weight high enough as he dealt with the intense pain, fatigue, and esophagus issues with this condition. He is currently taking Dupixent for his Eosinophilic Esophagitis as the PPI and Budesonide slurry were not addressing the issues. So far Dupixent is allowing him to eat. His diet remains very restricted due to having so many trigger foods and he has almost no appetite.

He eats a lot of dried and fresh fruit. He loves greens, raw and cooked. He also eats meat, white rice noodles.  He eats mostly an organic diet. He does occasionally enjoy candy.

Seizures

He developed seizures at age 6. These were controlled for a while on Depakote, but the side effects of Depakote were too much for him and so we had to stop. His seizures are now not controlled. He has 1-2 tonic-clonic seizures per week, plus several staring spells all throughout the day. Recent EEG showed abnormal spikes and discharges in the frontal and temporal lobes. It indicated his seizures involved many places on his brain. Brain surgery was being considered for seizures at this time, but ruled out as an option due to the nature of his seizures.

He has failed several other seizure meds including Vimpat, Zonegran, Aptiom, Topamax, Onfi, and others. He is currently on Lamotrigine and Epidiolex for his seizures. He also takes trazadone and gabapentin for sleep, although these do not consistently help him sleep. He is so consumed by fatigue and can hardly get out of bed even to walk across the room. With tons of encouragement he can do brief periods of school work. The meds cause him to lose focus and become frustrated. He seems to almost always be lost in a fog and unable to participate in basic conversations without losing focus or becoming too exhausted to continue. Each seizure will cause him to be in bed for 2-3 days. He has fallen many times going into a seizure and is now afraid to leave the safety of his bedroom. He will come out, but rarely.

He has intermittent issues with nystagmus. He had a bad case of COVID 2 years ago, which caused clusters of seizures and constant nystagmus.

He has an exaggerated startle response.

Despite It All

M is a sweet young man. He is brilliant. He loves animals. He tells everyone he sees that he is so happy to see them. He is working with a local legislator on how to improve rights for non-speaking people, especially in the court room. He is completing all of his high school courses at home with straight A’s and he is a published poet.

He does not speak, but he communicates by pointing to letters on an alphabet board. This is a skill that took him years to learn. He communicates at an age-appropriate level or higher. He is working, slowly, toward a standard high school diploma.

Postscript

Based upon what I have learned from this website, I discussed thiamine with our physician. It turns out, she heard Dr. Lonsdale speak years ago. She recommended 50mg of Lipothiamine. The entire time he was taking it, he had no seizures. I was not sure that it was thiamine or the meds until we ran out for about a week. The seizures returned, but as soon as we resumed the Lipothiamine, they disappeared again. He has been taking it again and now it has been 2 weeks without seizures. I don’t want to get my hopes up, but it could definitely be a piece of the puzzle. Are there others out there with similar experiences?

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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Notes On Thiamine Status During Pregnancy

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Currently, I am researching thiamine status during pregnancy for a series of articles to be published by the newly formed Thiamine Advocacy Foundation. Over the next few months, I will be publishing snippets of that research, and of course, when the project is finished, I will let everyone know and provide links to the articles. Today, I want to discuss a study published in 1980 about thiamine deficiency in pregnant and non-pregnant women.

For this study, the thiamine status of 60, presumably healthy, pregnant women was assessed across multiple times points (second trimester, third trimester, and in the immediate postpartum. Not all women completed all assessments. Food diaries were collected for three days preceding each test time to identify thiamine intake and a lifestyle survey to assess contraceptive use, smoking and alcohol history was given. Samples and diaries from 20 non-pregnant women were collected as well.

To determine thiamine status the erythrocyte transketolase test with thiamine pyrophosphate activation was used. This is among the reasons I found this study useful. It is only one of only a few studies of this population using the transketolase test. Recall from Dr. Lonsdale’s discussion Understanding the Labs (and here), the transketolase test is arguably a more accurate measure of thiamine status than plasma, serum, and some measures using whole blood.

Using the transketolase test, researchers found that 30% of the non-pregnant women were deficient in thiamine as were 28-39% of the pregnant/postpartum women depending upon the phase of pregnancy. Importantly, not all women were deficient at all test times. This means that the deficiencies likely waxed and waned relative to other variables like intake and stressors. Intake was considered sufficient in all but 10 of the women and for those 10 women it was only minimally below the RDA. Additionally, the researchers reported that previous oral contraceptive use had no apparent effect on thiamine status during pregnancy but that there was a trend for an increased risk of deficiency with previous pregnancies.

While this was a small study, the percentage of women who are deficient in thiamine is striking, especially the non-pregnant controls. If thiamine is deficient before pregnancy, the risk of severe health issues across pregnancy increases. Here though, none of the women who were deficient in thiamine displayed the classical symptoms of thiamine deficiency, although details were lacking. Moreover, all of the women delivered presumably healthy children, or at least healthy weight children, as other parameters were not measured. Again, this finding is important because it suggests that either 1) what we expect to see with deficiency during pregnancy is not completely accurate, 2) that the persistence or chronicity of the deficiency matters, and/or 3) that it is not simply a deficiency in thiamine that causes some of the more severe complications of thiamine deficiency during pregnancy.

I have written previously about the mismatch between classically defined symptoms of thiamine deficiency and what we are more likely to see with modern diets and stressors. I suspect this applies to pregnancy as well. I have also written about how thiamine status is likely to change relative to intake and demand. Rodent studies have shown that the typical neurological symptoms of deficiency do not appear until there is 80% decline of thiamine stores. Since we store a little over two weeks of thiamine, one would have to completely eliminate intake for more than a week before those symptoms might emerge, and even then, it might be a while before they were recognized. This is certainly a factor with hyperemesis gravidarum, the severe vomiting that some women experience during pregnancy but perhaps not in non-HG related pregnancies.

It is important to note, however, HG and thiamine deficiency go hand in hand. Thiamine deficiency, along with other deficiencies, may trigger HG (think gastrointestinal beriberi) in the first place, and once the vomiting begins, will easily deplete thiamine stores. None of the women in the current study developed HG, however, or other complications, so that leads me to believe, that we need additional triggers and we need persistent or chronic thiamine deficiency before noticeable complications arise.

In this study, all we have are indications of deficiency at specific points in time. We have no evidence of how long those deficiencies were present or whether other variables were somehow buffering maternal and fetal health such that the typical complications associated with thiamine deficiency were not observed. Even so, a finding that upwards of 30% of a test population of women, both non-pregnant and pregnant thiamine deficient speaks to how common this deficiency may be and how close to the precipice of more severe health issues a percentage of the population resides. Although observable changes in health were not reported or perhaps even recognized in this report, knowing what we know about thiamine’s role in energy metabolism, it is not unlikely that there were many negative metabolic patterns brewing just below the surface.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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