ehlers danlos syndrome Archives

Atomic Imprint: A Legacy of Chronic Illness

Published on May 18, 2023

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In a sense, my complicated health history began a decade before I was born. In 1951, on a chilly pre-dawn morning in Nevada, my father-to-be crouched in a trench with his Army comrades and shielded his eyes with his hands. Moments later, an atomic blast was detonated with a light so brilliant that he could see the bones in his hands through his eyelids, like an x-ray. The soldiers were marched to ground zero within an hour, exposing them to massive amounts of radiation. My father suffered many physical issues and died of chronic lymphocytic leukemia at 61 – a far younger age than usual with this disease.

Many of the soldiers exposed to atomic tests and military radiation cleanup efforts paid dearly with their health, and the legacy was passed on to their offspring in the form of miscarriages, stillbirths, deformities, retardation, childhood cancers, and chronic health issues. I never wanted children, in part because I was concerned that my own genes were affected by my father’s radiation exposure.

Early Markers of Ill Health

Physically, I didn’t feel right as a child. I had mononucleosis as a baby and needed a prednisone shot to get well. I was sick often and lacked stamina. I had mono again in high school and relapsed in college.

I fared well as a young adult, but then hit a wall in my mid-30s when I suddenly became chronically ill with digestive issues, insomnia, brain fog, and fatigue. A hair test revealed off-the-charts mercury poisoning, so I had ten fillings replaced and detoxed. All my hormone levels crashed, so I went on bioidentical hormone replacement therapy for a time. I recovered quickly but adrenal and thyroid hormone support were still necessary. I even fared poorly with the ACTH cortisol stimulation test to assess for adrenal insufficiency (“adrenal disease” beyond so-called “adrenal fatigue”).

In 2001, a DEXA scan revealed I had osteopenia at just 40 years old and I tested positive for elevated gliadin antibodies, a marker for celiac disease, the likely cause of the bone thinning. I went gluten-free and began lifting weights – thankfully, my bone density resolved. I shifted away from a vegetarian diet and gained muscle mass and energy.

Over the next several years, I had bouts of “gut infections,” resolving them with herbal antimicrobials. About a decade ago, the dysbiosis flares became more frequent and difficult to resolve. I tested positive again for mercury. This time I did the Cutler frequent-dose-chelation protocol and reduced my mercury burden to within normal levels according to hair tests.

A Labyrinth of Health Issues

My health issues were becoming more numerous, complex, and difficult to manage as I grew older. Besides the persistent sleep and digestion issues, I often had fatigue, pain, bladder pain, urinary frequency, restless legs, migraines, Raynaud’s, chilblains, and more. Managing all these symptoms was a real juggling act and rare was the day that I felt right.

As I searched for answers, I turned to genetic testing, starting with Amy Yasko’s DNA Nutrigenomic panel in 2012 and then 23andMe in 2013 to learn which “SNPs” (single nucleotide polymorphisms) I have. A Yasko-oriented practitioner helped me navigate the complexities of the nutrigenomics approach – that is, using nutrition with genetic issues.

I learned that genes drive enzymes that do all the myriad tasks to run our bodies (which don’t just function automatically), and that certain vitamins and minerals are required to assist the enzymes, as specific “cofactors.” Genetic SNPs require even more nutritional support than is normal to help enzymes function better. So my focus shifted toward using basic vitamins and minerals to support my genetic impairments. I now understood that I needed extra B12, folate, glutathione, and more. I began following Ben Lynch’s work in elucidating the MTHFR genetic issue, as I had MTHFR A1298C.

Also in 2013, given my struggle with diarrhea, I was diagnosed with microscopic colitis via a biopsy with colonoscopy. In 2014, I learned about small intestinal bacterial overgrowth (SIBO), which gave me a more specific understanding of my “gut infections,” and tested positive for methane SIBO. I worked with a SIBO-oriented practitioner on specific herbal treatments with some short-lived success.

At the end of 2014, I learned that I have Ehlers Danlos Syndrome (EDS, Hypermobile Type), confirmed by a specialist. I came to understand that my “bendiness” likely had implications in terms of chronic illness, and I saw my bunion and carpal tunnel surgeries in a new context, as part of this syndrome.

Even with these breakthroughs in understanding, I still relentlessly searched deeper for root causes.

Genetic Kinetics

In 2018, Ben Lynch published Dirty Genes, focusing on a number of common yet impactful SNPs.

I learned that I had NEARLY ALL of these SNPs – NEARLY ALL as “doubles” and even a “deletion.” (Deletions are worse than doubles; doubles are worse than singles.) Researching further, I had doubles in many related genes with added interactive impacts. Typically people might have just a few of these SNPs.

Understanding my “dirty gene” SNPs revealed that I could be deficient in methylation, detoxification, choline synthesis, nitric oxide synthesis, neurotransmitter processing, and histamine processing. Each of these SNPs could potentially impact sleep, digestion, and much more in numerous ways. Now I potentially had a myriad of root causes.

Lynch warns people to clean up their health act before supplementing the cofactors, whereas I’d cleaned mine up years prior. Sadly, I found only limited improvements in adding his nutritional protocol. Suffice it to say I felt rather overwhelmed and disheartened.

But at the same time, I gained vital and necessary insights. I now understood why I had mercury poisoning twice: detox impairments. I understood why I had Raynaud’s, chilblains, and poor circulation: nitric oxide impairments. My migraines could be histamine overload. I needed high levels of choline for the PEMT gene to prevent fatty liver disease and SAMe for the COMT gene. Much was yet still unexplained. So I relentlessly soldiered on, following every lead, clue, and a new piece of information.

Later in 2018, a friend who also has EDS encouraged me to learn about Mast Cell Activation Syndrome (MCAS), as many with EDS also have this condition. A few weeks later, I had a three-day flare of many issues, which prompted me to delve into the MCAS world, which was just as complex as the genetic approach. In working with an MCAS specialist, I honed in on three supplements, quercetin, palmitoylethanolamide, and luteolin, to help stabilize mast cells, which improved my bladder pain, bone pain, migraines, fatigue, and generalized pain. This was the culmination of months of research and work. All of this points to further genetic involvement, even though I lack specifics.

Downward Spiral

Twenty-nineteen brought further insights. I integrated circadian rhythm entrainment work. I tried a low-sulfur diet, suspecting hydrogen sulfide SIBO, which made me feel worse; and I began taking dietary oxalates somewhat more seriously after testing positive on a Great Plains OAT test. I did glyphosate and toxicity testing, which provided a picture of my toxic load. Testing also indicated high oxidative stress and mitochondrial issues (very interrelated). Hair Tissue Mineral Analysis (HTMA) testing, with the assistance of a specialist, helped me understand my mineral status and to begin rebalancing and repleting.

In 2020, I took a hiatus from all this effort, during which time I turned my attention towards personal matters, but 2021 has been a doozy in redoubling my health efforts. My digestion had worsened, so I focused on this area. I learned about sucrase-isomaltase deficiency, a lack of certain enzymes to digest sucrose and starch. I hadn’t tolerated sugar and starch for years, and I found I had a SNP for this condition. In January, a zero-carb trial diet helped me feel much better, so I continued. I tested positive for hydrogen sulfide SIBO, and I wrestled with this “whole-other-SIBO-beast” – in February trying again the low-sulfur diet and again feeling worse. Combining the zero-starch and low-sulfur diets left few options. Despite all my best efforts, I experienced a downward spiral with a loss of appetite, nausea, and vomiting every few days.

Discovering Thiamine

Around this time, I read an article about low thiamine (Vitamin B1) lowering intracellular potassium – I had been trying unsuccessfully to raise my potassium level in my HTMA work. I began following author Elliot Overton’s articles and videos on thiamine deficiency and oxalates. I was finally persuaded to take oxalates seriously. I then read the definitive book “Thiamine Deficiency Disease, Dysautonomia, and High Calorie Malnutrition” by Drs. Derrick Lonsdale and Chandler Marrs. I learned how B1 was key in many processes involving energy, digestion, and much more. I found that I had multiple SNPs in the B1-dependent transketolase gene, which is pivotal in several pathways. I gained some understanding of how all this related to some of my other genetic impairments, and why I might need high dose thiamine to overcome some issues.

All this was quite a revelation for me. It fit perfectly with my emphasis on vitamins and minerals to assist genes…but why hadn’t I learned of B1’s significance sooner?

In early March, I began my thiamine odyssey with 100 mg of thiamine HCL, upping the dose every couple of days. At 300mg HCL, I added 50 mg of TTFD, a more potent and bioavailable form of B1, then continued to up the TTFD dose every few days.

Similar to my experience with other vitamins, I was able to proceed rather quickly in dose increases. Many other people are not so fortunate and must go much more slowly. I already had in place most of thiamine’s cofactors (such as glutathione, other B vitamins, and methylation support) – so perhaps this helped me proceed more readily. Without these cofactors, peoples’ thiamine efforts often fail.

Magnesium is one of the most important thiamine cofactors, and for me, the most challenging. My gut cannot handle it, so I must apply it transdermally two or more times a day. At times, I had what I interpreted as low magnesium symptoms: racing and skipping heart, but these resolved as I continued.

Additionally, one must be prepared for “paradoxical reactions.” Worse-before-better symptoms hit me the day after thiamine dose increases: gut pain, sour stomach, headache, fatigue, and soreness.

My symptoms improved as I increased the dosing. When I added 180 mg of benfotiamine early on, my bit of peripheral neuropathy immediately cleared. This form of B1 helps nerve issues. As I increased my thiamine dosing, the nausea abated, my appetite came roaring back, and gastritis disappeared. Diarrhea, fatigue, and restless legs improved. I was able to jog again. My digestion improved without trying to address the SIBO and inflammation directly; the strict keto and low oxalate diets may have also helped.

In June, I attained a whopping TTFD dose of 1500 mg but did not experience further resolution beyond 1200mg, so I dropped back down. At 1200mg for a month, a Genova NutrEval test revealed that I was not keeping pace with TTFD’s needed cofactors, especially glutathione and its substrates. Not too surprising, given my malabsorption issues and my already high need for these nutrients. I dropped the TTFD to 300 mg, but quickly experienced fatigue. I’m now at 750 mg, which is still a large dose, and clearly, there is more to my situation than thiamine can address. I still have diarrhea and insomnia, and continue working to address these.

The Next Chapter

With TTFD, its cofactors, and my new gains in place, I’ve turned my attention towards a duo of genetic deletions that I have in GPX1 (glutathione peroxidase 1, one of Lynch’s dirty genes) and CAT (catalase). Both of these enzymes break down hydrogen peroxide (H2O2), a byproduct of numerous bodily processes. This unfortunate double-whammy causes me a build-up of damaging H2O2 and lipid peroxides – in other words, oxidative stress, a major factor in mitochondrial impairment, many diseases, and aging. This might be one of my biggest and yet-unaddressed issues, and I am digging deep into the published medical literature. This new chapter is currently unfolding.

I believe these two deletions are related to my father’s radiation exposure, for reasons beyond the scope of this article. But what about all the other SNPs? Many questions remain unanswered.

All my gains have been so hard-won, involving much research, effort, and supplementation. Yet what other options do I have, besides playing whack-a-mole and spiraling downward? Looking back, my improvements have been substantial, given the multitude of issues I’ve had to deal with. Perhaps now at 60, my life can start to open again to more than just self-care.

I hate to think of where I would be now, had I never come across the thiamine deficiency issue. I believe a number of factors had driven my thiamine status dangerously low earlier this year, such as malabsorption, oxidative stress, and hydrogen sulfide SIBO. I’m forever grateful to Lonsdale, Marrs, and Overton for their invaluable thiamine work that helped guide me back from the brink, and to the numerous doctors and practitioners who have helped me get this far. Perhaps my story can help others struggling with chronic health issues.

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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 published originally on September 23, 2021.

Severe Gut Dysmotility, Dysautonomia, and Malnutrition

by Charlotte

Published on February 23, 2023

17851 views

History of Gut Pain and Epigenetic Malnutrition

I am 32 years old and have suffered from ill health all of my life. From as long as I can remember, I’ve experienced gut pain, fatigue, and hyper-sensitivity. If there was something to catch, I would catch it. I react to everything and suffer chronic gut and nerve pain.

As a young child, I had chronic abdominal pain in the lower right quadrant and would often be buckled over in pain. Doctors thought it was appendicitis so removed my appendix but the pain continued. I was chronically tired and sensitive to the cold. I would struggle to get up in the morning to go to school and would stand in the shower dousing myself in hot water for as long as I could to warm up my body. Cold hands and feet has continued into adulthood.

I was born into a family that struggled with spine, neck, head, and gut issues. I was raised on cow’s milk and barley formula as my mother was unable to breastfeed. My mother and aunt had Ehlers Danlos Syndrome. I was diagnosed with it 8 years ago. My mother has Arnold Chiari malformation, my aunt scoliosis. They were post-war children. My grandmother had spinal issues and likely was very deficient in the B Vitamins. My grandfather, aunt and mother all suffered from gut issues, my grandfather eventually dying from bowel cancer. He was sensitive to many foods, particularly FODMAP rich ones.

I had many allergies – dust mite, grass, cow’s milk etc. I suffered an adverse reaction to the MMR vaccine when I was eight – with an intense full body rash. I was bedridden with intense fatigue for two weeks. Around the same time, tests found huge numbers of the parasite dientamoeba fragilis (D fragilis) in my stool. Dientamoeba fragilis together with Blasto hominis, another intestinal parasite, have been found in large numbers in my stool ever since. Despite trying many things, I’ve never been able to get rid of them.

Increasing Food Sensitivities, Weight Loss, Amenorrhea, and Osteoporosis

By the age of ten, I was struggling with depression and increasing sensitivities to many foods – particularly gluten and dairy. The only thing that seemed to help was exercise. I played competitive soccer, did cross-country and athletics and rode my bicycle everywhere. At this time, I started becoming vegetarian, in response to my growing concern about the state of the world, animal cruelty and the environment. This meant consuming a lot of gluten and dairy based foods. As I entered puberty, my body couldn’t keep up with the energy demands of this stage of development and I began losing weight rapidly, despite eating a ton of carbs.

I was working hard at school, and have always pushed myself to succeed, but as my body became more and more unwell, I struggled with focus and concentration. My depression became worse and the world felt very bleak. Everything I ate caused pain, bloating, and fatigue. I was eating lots of pasta and cheese to try to fuel my sports but I continued to lose more and more weight. Throughout my parents had been doing everything to investigate and treat the cause of the illness, but I just kept getting more and more unwell. My weight dropped dangerously low, I developed bradycardia and I struggled to think clearly.

The years passed through adolescence and into early adulthood. Through sheer willpower and making myself eat, despite the intense pain it caused, including severe abdominal cramping, sulfur gas, burning, over-heating, swelling, headaches and more, I could get some extra weight on for a while, but it would quickly fall off again. My growth and development suffered. My bones froze in time – a bone age at 19 showed the bones thought they were 13. I had amenorrhea. I developed osteoporosis. An endoscopy showed an inflamed caecum and inflammatory spots in my sigmoid colon.

Through my teenage years and twenties, I had to follow extremely restrictive diets. I had to quit being vegetarian, as it didn’t leave anything to eat and my body clearly needed nutrients from animal foods to survive. I reacted to FODMAPs, histamines, too much fat, too many carbs – there was so little I could eat without feeling extremely unwell.

I would often experience intense nausea attacks, severe bouts of sudden pelvic pain, stomach bugs, and caught giardia several times. I got shingles at the age of 21, a strange fever induced by tick bites at 22, and viral meningitis at the age of 26.

Gut Dysmotility, Progressive Neuropathy, and Migraine

My gut was becoming lazier and lazier. At the age of 23, I wound up in emergency in extreme abdominal pain after it stopped moving altogether and my intestines became fully impacted. The pain was excruciating. Eight sachets of heavy duty laxatives did nothing to the situation. I was started on prucalopride (an enterokinetic drug) to help get it moving again. I cannot function without this drug now. When I stop taking it, my gut ceases to move altogether.

Through my twenties, I also started suffering from tingling in my arms and legs and increasing peripheral neuropathy. By the age of 27, I would experience episodes where an entire arm or leg was completely numb. Blood work showed my B12 had dropped very low. I went on B12 injections and increased food sources of B12. Things improved for a while but then the neuropathy returned. I subsequently developed Reynaud’s syndrome.

Around the same time, I started developing worsening headaches and a few years later migraines. The migraines were so bad I couldn’t move without intense vertigo and extreme nausea. I had to lie in a pitch dark room and wait it out. Some migraines were preceded by a confusional aura where I couldn’t tell what anyone was saying to me. I could understand the individual words but not when they were strung together in sentences. The vertigo continued for about 6 months.

Exercise became more painful too. Despite being fit, I would suffer from intense DOMS, headaches and nausea after running. Muscles started becoming more and more sore and painful despite taking electrolytes, being careful about my nutrition and warming up and down.

I woke up every morning feeling exhausted and sleep studies revealed I had developed sleep apnea – something I had thought wasn’t so common in women of my age and build.

Stress Fractures, Worsening Neuropathy, and Hypoxia

Earlier this year, I wound up with a bad stress injury in my hip – several stress fractures in my femoral neck despite no blow to the area and no fall – which doctors thought quite unusual for someone of my age who was running low mileage recreationally. The injury brought with it chronic nerve pain along my right side on top of worsening neuropathy.

I would wake up in the middle of the night with numb limbs. Nerves would fire spontaneously in my legs and arms. Nerves in my jaw felt constantly stimulated and my tongue would swirl uncontrollably around in my mouth. My gut stopped moving more and more frequently and I would have to take laxatives regularly to clear it out.

I had severe GI burning and was unable to eat anything other than clear broth and coconut water without pain. An endoscopy found bleeding in my sigmoid colon. My hemoglobin dropped 17 points and I struggled with breathlessness, unable to get up a flight of stairs or even walk a few hundred meters without feeling deeply exhausted.

To date, I have been diagnosed with POTS, Ehlers Danlos Syndrome, dysautonomia, gastroparesis, severe osteoporosis of the lumbar spine, and peripheral neuropathy. This comes against the backdrop of the gut problems experienced since childhood. These other health issues were, to no small degree if not caused, then significantly worsened by my gut issues. I have had long periods of time where I couldn’t absorb food or eat very much due to my gut problems, so I have been underweight for most of my life. As a result, I am likely deficient in many nutrients.

Current Diet, Activity, and Recent Testing

Diet

Breakfast: steamed greens (e.g. some combo of broccoli, beans, spinach, asparagus, etc.), 1-1.5 scrambled organic egg, 1 cup bone broth with 1 desert spoon collagen peptides + 1 desert spoon seaweed.
Lunch: 1 cup bone broth with 1 desert spoon collagen peptides + 1 desert spoon seaweed with 1 egg yolk stirred through OR some homemade chicken liver pate on carrot sticks instead of the egg yolk; 1 raw carrot and/or raw cucumber sticks; sometimes 1 packet of roasted nori.
Snacks: 1 glass homemade carrot, celery and ginger juice; some blueberries and/or a kiwi fruit.
Dinner: some protein (e.g. half a single piece of salmon, 8 prawns, small amount of red meat), green veggies (e.g. steamed beans, asparagus, spinach, broccoli), a starchy veggie (e.g. pumpkin, sweet potato, beetroot), sometimes some green salad.
After dinner: a few blueberries and/or pieces of mandarin, 30-40g vegan carob (cocoa butter, carob powder, no sugar), a cup of herbal tea.

Activity and Exercise

Daily: walking – approx. 12-13km over the course of a day including daily activities, as measured on Fitbit.
Running: 3x per week – currently at 9km total over the week; very slow 6’20” pace.
Yoga: 2x per week 1hr classes – beginner.
Physio: 3x 20-25min per week – core exercises for lower back, hips, shoulders etc as set by exercise physiologist.

Recent Testing

These tests were conducted by RN Labs and Great Plains Laboratory before I began thiamine.

Stool – GI-360

Klebsiella pneumoniae – very high
Proteobacteria – very high
Akkermansia muciniphila – very high
Escherichia spp. – very high
Bacteroides spp. – very high
Endolimax nana – very high
Eubacterium siraeum – very high
Enterobacter cloacae – high
Elastase – low
Butyrate – low
Clostridia – very low
Faecalibacterium prausnitzii – very low
Veillonella spp. – very low
Secretory IgA – very low

Urine – Organic Acid Test

Yeast and fungal markers:

3-Oxoglutaric – 0.69 (<0.33) – Elevated levels of 2-Oxoglutaric suggest dietary vitamin deficiencies or supplementation with 2-ketoglutaric acid. Coenzyme A (derived from pantothenic acid), flavin adenine dinucleotide (FAD) (derived from riboflavin), and thiamine are required for conversion of 2-oxoglutaric acid to succinyl-CoA.
Arabinose – 70 (<29) – Urinary levels higher than the reference range may simply reflect a high dietary intake of these fruits. However, arabinitol (which converts to arabinose) is also documented to be produced by the Candida genus of yeast. When elevated in body tissues, it can link with lysine and arginine. In theory, this may block some binding sites for coenzyme pyridoxal phosphate, biotin or lipoic acid at the lysyl residue in apoenzyme proteins. This would impair enzymatic processes, such as transamination of amino acids (in spite of “normal” intake of vitamin B6). A finding of high arabinose, without dietary intake of the above-mentioned fruits, suggests a stool analysis or other tests/examinations for Candida overgrowth.
Tricarballylic – 2.3 (<0.44) – Tricarballylic acid is a chemical by-product released from fumonisins during passage through the GI tract. Fumonisins are fungal toxins produced primarily by F. verticillioides. Tricarballylic acid is an inhibitor of the enzyme aconitase and therefore interferes with the Krebs cycle.

Bacterial markers:

4-Hydroxybenzoic – 1.9 (<1.3) – A marker for intestinal dysbiosis.

Oxalate metabolites:

Glyceric – 16 (0.77-7) – High glyceric levels on an organic acids test usually relates to primary hyperoxaluria type 2.
Oxalic – 389 (range = 6.8-101) – High oxalic with or without elevated glyceric or glycolic acids may be associated with the genetic hyperoxalurias, autism, women with vulvar pain, fibromyalgia, and may also be due to high vitamin C intake.

Glycolytic Cycle Metabolites:

Lactic – 51 (<48) – Elevated by a number of nonspecific influences, such as vigorous exercise, bacterial overgrowth of the GI tract, shock, poor perfusion, B-vitamin defciency, mitochondrial dysfunction or damage, and anemia, among others.

Mitochondrial Markers – Krebs Cycle Metabolites:

Succinic – 24 (<9.3) – The most common cause of elevated succinic acid is exposure to toxic chemicals which impairs mitochondria function.
Malic – 2.7 (0.06-1.8) – Higher levels of malic acid in urine indicates inefficiencies in energy production. Elevated malic acid values suggest increased need for niacin and CoQ10. When malic acid is simultaneously elevated with citric, fumaric, and alpha-ketoglutaric acids, it strongly suggests cytochrome C oxidase deficiency, indicating dysfunction in the mitochondrial energy pathways.
Aconitic – 6.6 (6.8-28) – Elevated in mitochondrial disorders. Aconitase metabolizes citric and aconitic acids, and is dependent on glutathione. Increased levels may indicate additional requirement for reduced glutathione.

Neurotransmitter Metabolites:

HVA / VMA Ratio – 2.3 (0.16-1.8) – An elevated ratio is often the result of decreased conversion of dopamine to norepinephrine by the enzyme, dopamine beta-hydroxylase. This inhibition is commonly caused by Clostridia by-products, including HPHPA, 4-cresol, and 4-hydroxyphenylacetic acid, which are also measured in the OAT.
Dihydroxyphenylacetic (DOPAC) – 3.9 (0.08-3.5) – DOPAC levels may be elevated due to inhibition of dopamine beta hydroxylase (DBH) from Clostridia metabolites, the mold metabolite fusaric acid, pharmaceuticals such as disulfiram, food additives like aspartame, or to deficiencies of the DBH enzyme due to copper deficiency, vitamin C deficiency, or malic acid deficiency.
Quinolinic – 0.58 (0.85-3.9)

Ketone and Fatty Acid Oxidation:

3-Hydroxybutyric – 5.7 (<3.1) – A moderate urinary increase in 4-hydroxybutyric acid may be due to intake of dietary supplements containing 4-hydroxybutyric acid, also known as gamma-hydroxybutyric acid. Very high levels may indicate the genetic disorder 3-methylglutaconic aciduria involving succinic semialdehyde dehydrogenase deficiency.
Acetoacetic – 32 (<10) – High levels of acetoacetate in blood may result from decreased availability of carbohydrates (eg, starvation, alcoholism) and/or abnormal use of carbohydrates storage (eg, uncontrolled diabetes, glycogen storage diseases).
Methylsuccinic – 5.7 (0.1-2.2) – Very elevated values may indicate a genetic disorder. Fatty acid oxidation defects are associated with hypoglycemia, and lethargy. Regardless of cause, intake of dietary supplements containing L- carnitine, or acetyl-L-carnitine may improve clinical symptoms.
Sebacic – 0.39 (<0.24) – Sebacic acid is a breakdown product of fatty acids. Higher levels can be seen when the breakdown of fats is impaired or blocked. May be associated with Vitamin B2 (aka Riboflavin) deficiency. Riboflavin is needed for fatty acid breakdown.

Nutritional Markers:

Vitamin B2 – 0.38 (0.04-0.36)
Vitamin C – 598 (10-200)

Discovering Thiamine

During this time, I was fortunate enough to learn about the work of Dr. Lonsdale and Dr. Marrs and have started talking high dose Lipothiamine. After several months, the chronic nerve pain is reducing and my gut has improved somewhat however I still struggle with pain and am very sensitive to a lot of foods.

I also have been learning more about the role of genetics and epigenetics in my condition. I am compound heterozygous for the MTHFR mutations and also have SNPs of the PEMT, NOS3, COMT, MOAB, GST genes alongside a number of other SNPs (including CYP, PONI, GAD, GGH, HTR2A, MMAB, NAT2, SLC, SULT, ALD, CBS, DHFR, MTR, TCN1, CBS, DDC, DRD and more).

I am currently taking 1000mg of Lipothiamine orally per day. If IV was possible, I would do that given my gut problems, but we have not been able to find anyone able to administer that here in Australia. In addition to the Lipothiamine, I take magnesium (800mg), liposomal Vitamin C (6000mg), glutathione (450mg), probiotics, a multivitamin, cod liver oil, B-complex, Alpha Lipoic Acid, zeolite, zinc and methylated b12 (shots occasionally and drops in between).

I follow the Auto-immune Protocol diet (including all fresh, unprocessed food, no sugar, lots of veggies and fruits, organic fish, meat, eggs, etc.), walk daily, practice yoga, meditation, daily stretching and gentle jogging a few times a week.

Improvement with Thiamine and Outstanding Questions

In recent weeks, I’ve been finding the nerve pain has significantly improved on this high dose (1000mg) of Lipothiamine however my gut symptoms are quite bad – with a lot of GI burning. I experienced this when I first started taking the Lipothiamine but it subsequently subsided so I am unsure if this is something I need to just push through or if I am on too high a dose.

I would love to hear others experience and hope that sharing mine is of use to others. I am deeply grateful to Dr. Lonsdale and Dr. Marrs for their groundbreaking work in this area and hope to do whatever I can to spread the word about this vital information so that more people can experience full health and happiness in their lives.

We Need Your Help

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.

This story was published originally on December 14, 2020.

Celebrating a Diagnosis of Chronic Illness? You Bet.

by Debra Anderson

Published on April 4, 2019

4589 views

I’m Celebrating Today, but not for the Reason You Would Think

Today is a day of celebration for me! However, my celebration is probably not one that someone would consider a reason to celebrate. You see I have spent years and years being ill, matter of fact looking back to my childhood, I can honestly say that I was never a healthy person. I was always suffering with one painful area after another. Then when I hit my early twenties my health began to spiral out of control. At first it was a slow progression, but with each passing decade the destructive progression of whatever this was began to speed up. I continued to fight like hell to push through whatever this was that was happening to my body. I spent countless hours crying in pain and more trips to the ER for help then I can even count. The doctors would run one test after another on me and find nothing other than inflammation of unknown origin.

As the years went by, I would find myself traveling the country searching out one specialist after another. Many would take a guess as to what was happening to my body and then some would tell me that it was all in my head and show me the door, while others would then label me with one autoimmune disease after another. Each autoimmune disease was based on whatever area of my body was inflamed at the moment. If my skin was inflamed they would label me with psoriasis. If the joints were inflamed I would get labeled with some form of arthritis like Lupus or RA. If it was my stomach or colon I would get labeled with Crohn’s disease and on and on it would go. By the time I hit my forties, I had truly become the queen diseases, yet no one really knew with any certainty what was wrong with me. During these years I would try one drug after another to help quell the progression and ease my suffering but most did very little and many caused more problems.

The First Clue: Ehlers Danlos Syndrome

A breakthrough would come in 2007 when I would be genetically diagnosed with several forms of EDS (Ehlers Danlos Syndrome). This would lead to several answers for many of my problems, such as Dysautonomia, Mast Cell Activation Syndrome, Myalgic Encephalomyelitis, etc.. However, it still did not account for the systemic inflammation, the deterioration that was now being seen in imaging or through other testing. It also did not account for the level of suffering and pain I was dealing with. On top of this there really wasn’t any treatment for EDS or the sub-illnesses it had caused. It would be at this point that my doctors and I would turn to just trying to treat my symptoms as they arose. This included pain pills, anti-seizure meds, stomach meds, etc.. Most of these treatments did very little other than to lessen the pain, but because the inflammation was still raging in my body like an all-out war, I continued to experience further disabilities due to destruction of joints and organs. My life had become a living hell to say the least!

Fluoroquinolone Toxicity Syndrome and Lyme: A Wonderful Combination

By 2011, after another bout with diarrhea, I was once again given another dose of Cipro, only this time combined with my prednisone. This would set off a severe reaction within my body known as Fluoroquinolone Toxicity syndrome. This reaction coupled with my EDS (which is a collagen depleting syndrome), would leave me bedridden for years. I would once again try like hell to fight my way back to some kind of normalcy. I finally had reached a point of being able to get up and take care of myself and began to be able to walk again. Now this is not to say that all my previous problems, pain and disabilities had also gotten better because they had not. As a matter of fact, they had continued to progress. However, I tried to adapt to my abilities, body and life and in celebration of being up and out again. We decided to take a trip to Tennessee. It would be this trip that would once again, throw my life into a turmoil. You see I had been bitten by a tick; one that was carrying a whole host of infections, which it so kindly infected me with.

For the next 8 years, I would aggressively attack all the tick infections I had been positively diagnosed with. It was a long arduous battle that kept me very ill and quite often bedridden again. Then just as it seemed that I was turning a corner with beating these infections, I would go into another “flare”, sending me reeling and back to my bed once again. My abilities and life had forever changed and not to the betterment either. Many nights, as I lied in my bed crying softly to myself, I would wonder if I would ever know a moments peace again. During some of those nights I would literally fantasize about dying and think how glorious it would be to be out of pain once and for all, but not having lived my life to the fullest yet, I would pull myself back from the brink of swallowing a whole bottle of pain killers.

The tick infections would go on for so long that I had lost the sense of who I was and who I once was. I had reached this point in my mind of thinking that if I could just get back to when I was younger, my life would be so much easier, because after all I had been healthy back then, right?! This somehow had become a false fantasy that I had placed in my mind, maybe because my health had become so bad that looking back on my youth made it seem as though I had been truly healthy, but in truth that was not the case. It would take going into cognitive behavioral therapy for me to look back on who I was and how unhealthy I really had been. This would be the dawning moment for me!

Ill Since Childhood

Once I had realized that my health had been going downhill literally from the moment I took my first breathe of life, I quickly realized that everything I was going through and had been through since taking that fatal dose of Cipro was not the end all to my health problems. This included the love kiss I also received from that fateful tick in Tennessee. No, my health problems dated far back into my earlier years and even after the diagnosis of EDS, there was still a sense of something more sinister still taking place within my body. It was something that no doctors had yet been able to place their fingers on, but it was something that was eating my body one cell at a time and leaving me in total and utter grief.

It would be then that I would begin to wake up and question the tick infections as still being viable within my body. I mean after all I had spent seven of the eight years saturating every cell and nook and cranny of my body with every kind of antibiotic, anti-fungal and anti-parasitic drug out there and this was not to mention the numerous alternative therapies. How could these infections still be so alive within me? How?! At this point I would sit down with my doctors one by one and go through my life, chapter by chapter, from one illness and label to another. I would question them on everything they knew and then some. In the end, they too would come to the same conclusion as me, this could no longer just be Lyme and company. No, there had to still be some sinister force lurking within my body; the same damn one that had showed up days after I took my first breathe of air and one that was continuing its ugly assault on my body, with no mercy!

The quest began, I was determined to find this beast and put a name to it. I made a promise to myself that I would not die without first being able to look this beast in the face and name it. I was going to find him within me and level this playing field once and for all! So, I began pouring through every medical book and journal out there. I was so intent on finding the answer that I literally kept a journal of every disease that had any possibility of being my monster. I came close to fitting hundreds of different diseases, but with the help of my doctors we were able to narrow it down to just a few. Once we had settled on a few, we began looking for any kind of definitive testing available for them. Thank God science has been moving at the speed of lightening over the past decade because they made our quest for diagnosing many of these diseases as easy as a DNA blood test. I would drag my ailing body into my doctor’s office week after week, throwing down one more disease to test for, but as each came back negative my hope for an answer slowly, but surely, diminished. It was as if someone had slowly let the air out of my birthday balloon and it left me as deflated as that balloon on the floor. Thank God my doctors were as curious as I was for an answer because they kept giving me encouraging words and propping me up when I thought the quest for the Holy Grail was over.

The last test, the very last test that we thought I might have was done and when it came back negative too, I collapsed on the floor, sobbing as if someone had stolen my new puppy. I cried for days on end, setting off my mast cell so bad that my face had swollen to a nearly unrecognizable state. I had been beaten and defeated and as I laid in my bed envying the people in the obituary columns. I began to think maybe this was still Lyme. What would it hurt to go back and try antibiotics once again? So, I set up an appointment with a new Lyme doctor and set off to see him. This doctor sat there listening to the story of my journey with wide eyes open and as my story continued I could see his facial expression go from “I think I can help you” to “I’m not going to be able to help you”. As I finished my story, this kind man sat back and explained to me that I still may have Lyme, but that there was something more at play here, maybe it was the EDS and all the sub-illnesses it causes, or maybe it was the floxing from the Cipro, or maybe it was this dark lurking beast that no one could pin down, but in any case, he was not sure that more antibiotics were going to bring me any further than I had already come. However, he was more than willing to administer them, but warned me that they would make me very ill again, worse then what I already was, and once I recovered, I would more than likely be right back to my baseline; the same baseline I was at sitting in front of him that day. Now, I thought for sure that I was going to fall on the floor and begin balling like a baby, but after a moment of thought, I realized this man just gave me the vindication that this more than likely was no longer Lyme and company, so there still had to be some sinister force lurking within me. So, I told the doctor to please run every Lyme and company test on me again, and while I waited for the results, I would go home and think about re-entering the world of antibiotics and Lyme.

Time to Regroup

I went home that night not as upset as I thought I would be and called my regular team of doctors. I told them what the new Lyme doctor had said and explained the route we were going to take with the tests and my thinking about treatment again, although my mind was already pretty much leaning toward not going down this road again. My team of doctors were thankfully on the same page as me and were quite supportive in whatever my decision was to be and in helping out in any way they could. Over the next few days, I would sit in complete silence going over every chapter of my life, page by needless page. I would recount every conversation with every doctor I had seen and mull over every test that had ever been done on me. Then it was as if a light bulb had gone off in my head. No, actually it was more like the finale to a great fireworks show on the fourth of July that burst from my brain! I quickly grabbed my notes and poured through them, I knew what was going on for the first time, it was all coming to light, the beast was being exposed and I had him cornered!

You see, I vaguely remembered a rheumatology appointment that I had had shortly after being diagnosed with IBD. The rheumatologist who I had been working with for over a decade had brought up this disease, but because he had given me so many labels of autoimmune diseases over the years, all of which I would now find out went along with this illness, that I took what he had said with a grain of salt and then threw it out like the baby with the bath water. Instead, I went back to my GI doctor who had just diagnosed me with IBD and felt this is where I needed to focus my attention and just maybe if we conquered this illness the rest would just fall into place. I never did go back to the rheumatologist and soon after that appointment, I would also be diagnosed with Lyme disease, a disease that could account for all my inflammation. This then quickly put the rheumatologist’s theory of a new diagnosis out of mind. I thought between the IBD diagnosis and the Lyme disease that I had finally found my holy grail and all would be well soon. Unfortunately, at that point in time it never dawned on me that my long standing systemic inflammation had started long before the tick bite and even the IBD diagnosis. Now, I don’t know if I just wanted it to be this easy (not that treating either of these illnesses was an easy walk through the park, but compared to what I had been through already it seemed like this was going to go smoothly from here on out) or if I just wanted to live in a state of denial and pray like hell that this was all there was. If I had only had a crystal ball way back when, so as to see that nearly a decade later I would still be suffering terribly, dealing with more body wide destruction and once again searching out the horrible beast that would still be lurking inside me. Maybe then I would not have thrown the baby out with the bath water, but instead took each new finding as being one step closer on my journey to meeting the beast face to face.

Eureka Moment

So, coupled with this vague memory and some new found information, I set out to look up the diagnostic criteria for the disease that I was sure this time was it. I sat there reading it line by line checking off each criteria I had met, and by the time I had reached the last point of criteria I realized that I had checked off every box! I looked up from my computer, while sitting there on my bed and felt as though the heavens had opened up and the sun’s rays came shining down on me, all I needed now was a chorus of angelic singers to fill the room, like you see in some religious kind of movie where God opens the heavens down on to you and delivers the miracle you had so desperately prayed for!

Now as elated as I was, I knew I had to get my ducks in a row before once again bringing another disease to my doctors. So, I looked up the overview of the disease along with the symptomology, as well as any other testing needed to determine if someone had this illness. There was my choir of angelic singers, every note on the page poured out my life’s story of existence. Starting from the very early days of symptoms to the progression of the illness throughout my young adult life, to where I was at now. Not only could I see myself within these symptoms but also other family members, many who like me were in search for the mysterious beast lurking within themselves too. I would go on to see the sub-illnesses often associated with this disease and again like pages in the novel of my life there was each disease one after the other laid out in the succession I had so exhaustedly exhibited. Finally, the diagnostic criteria used in determining this illness would go on to show the systemic body wide destruction this beast would cause over a life time, the same destruction imaged and seen so often in my own health records. With all this knowledge now in hand you would think I would run off to the phone to call my team of doctors, but before releasing the congratulatory balloons, there was one more thing for me to check. I needed to know if and how this disease was related to EDS. So, I looked it up and there in plain sight was my answer, it was one of several sub-illnesses often seen alongside of EDS. Once again it was stated that people with EDS often suffer with this illness and as of yet like so many of the other sub-illnesses associated with EDS, there was no known reason or verifiable scientific connection as to why. Well, I had all I needed now, so it was time to let the team in on this one.

The Diagnosis: Ankylosing Spondylitis

I tried to stay calm as I called and messaged each doctor. I went through each bullet point I had made in my notes and then brought up the prior raising of this illness many, many years ago now. I laid out my case, like an eager new lawyer, I presented all the evidentiary evidence that had been collected over thirty years of living with this illness. I was precise and on point, I was ready for any of their questions, yeah I was in this to fight like a lawyer who was trying to save their client from the electric chair! When I finished pleading my case, I sat there in silence as each of my doctors took the information in and then there it was, those glorious words “OMG! You hit the nail on the head” They had never thought of this diagnosis and were unaware that a rheumatologist so many years ago had hit on this disease. Each of them had some vague knowledge of the disease and some had even treated other patients with it, but none had thought about applying it to me, mostly because I came to them without the diagnosis and my symptoms seemed to manifest over decades, leaving everyone bewildered. Once they had heard me plead my case point by point right down to this last flare which once again encompassed a part of my spine they knew I had hit the right diagnosis. I would then go in and get formally diagnosed. A week later the choir was singing my praises as the heavens opened to shine down on me. I was officially diagnosed with this disease. Okay it was time to tell the family and throw the celebratory party, you know the one that screams with pure joy “That I have a progressive inflammatory disease and it has a name, it’s called Ankylosing Spondylitis!!!!”

I had found the beast, I had finally seen his face and from here on out we were going to be on an equal playing field. I know to most people finding out that you have an awful progressive disease that is going to limit your abilities and turn your world, your hopes and dreams upside down and inside out, would be devastating to say the least, but for someone who has been chronically ill for years on end, it came as a sweet relief. You see chronically ill people live somewhere in between getting sick and death. What I mean by this is that we are all taught from an early age that if you get sick you just simply go to the doctor, who then runs his tests and diagnosis’s you. You then get a prescription which you take and within a few days to a week you are back up and rejoining the living world. Or we are taught that you get sick and you go to the doctor who then runs his tests and with sadness in his voice he explains to you that you have some awful deadly disease, which in turn you go home to prepare for your death. However, there is this place in between that getting sick and death and that place is known as chronic illness. It is a place where you go when your illness decides to never leave. It is place of fear, isolation, and loss of job, finances and quite often even family. It is also a place where patients often find themselves being abused at the hands of the very people who are supposed to be helping them find their way back to health: the doctors!

You see for most doctors, they are taught that if you cannot see the beast within the blood work or on imaging, then the beast does not exist. In cases like this, the doctors then turn on their patients and quite often blame the victim for their own suffering. The worst part is that in 2019 we know enough about autoimmune diseases and genetic defects to know that many if not most diseases can often take years to decades to fully present themselves and in the meantime, the patient can go on to suffer the low level of inflammation that is still not able to be detected through our archaic testing. Yet instead of working with the patient, however long that may take, most doctors show the patient the door and blame them for their own suffering. The world of chronic illness is like the black hole where frightened ill people get sucked into against their will, to never be seen as human beings and a part of society again.

Being Chronically Ill

The unfortunate fallacy propagated by the healthy and even some doctors is that the chronically ill are lazy, they just don’t want to work or they like the attention and so on and so on. Well, I can tell you that anyone who is chronically ill works harder on a daily basis then even the hardest working healthy people. You see we work hard at “faking it” for the healthy so they will believe us and not leave us. We work hard at trying to manage our finances so as to be able to afford our multiple doctor appointments and medications. We work hard at searching for that one doctor, the one who will finally draw the beast out of us and name it and work even harder at convincing a doctor that we truly are sick and in pain. We work hard at doing daily necessities like showering and shopping, things most people do without a second thought, but for us it can leave us wiped out only to pay for days on end. We work hard to keep hope, so that one day we will find the answer and slay the beast, because if we didn’t work hard at this we would have ended our life after the first doctor showed us the door! We spend countless hours with doctor Google, praying we get lucky and hit the mystery medical jack pot! On top of all this many must still care for their children, while facing family ridicule for not getting well. We live through guilt and shame and fear and ostracization from society as a whole. Many are accused of being mentally ill and for many of us, myself included, spend countless hours questioning our own sanity. We are accused by doctors, family and friends alike of being attention seeking, malingering, or suffering from somatization disorder, or worse yet drug seekers! Yet none of this could be farther from the truth. We, just like anyone else, want nothing more than to get better and return to our healthy lives or at the very least have the beast named so we can set out a plan of attack to assault the beast who has raged this war within our bodies. We don’t want to spend one more minute in pain, we don’t want to see one more crass rude doctor and God knows we do not want to swallow one more pill or supplement that leaves us with awful side effects, no we want to be like you, healthy and full of hope and joy for the future, only this time with a new found compassion for those who are fighting a silent beast within!

So, yes after years of being ill, after years of being tormented by our bodies, our doctors, our family and friends and after years of losing everything we have come to cherish in life, when that elusive miracle of facing the beast actually happens and we have found our Holy Grail, we rise to our feet and do the happy dance, we shout from the roof tops that we are “really” ill and no matter what the diagnosis is or what the prognosis of the disease is we are ready to celebrate and celebrate hard! For no matter what the diagnosis brings in the future, it surely cannot be as bad as the journey itself was to finding the beast. We once again find a new kind of strength, only this time we are not fighting ourselves, the doctors or the ones around us, but instead we are finally fighting the beast and we do it with a glorious smile on our faces and little spunk in our steps! So, today I am celebrating my disease, Ankylosing Spondylitis, matter of fact I think I will even get some balloons and a cake, do you think they can write on the cake “Congratulations on your progressive disease!” LOL!

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