MELAS

This is a bit of a long story because I can’t tell if I have a genetic problem that only shows up under stress or just plain deficits due to extreme stress. I am a 58 year old woman having some pretty severe health problems that I have recently begun to think might be due to thiamine deficiency, malnutrition and/or possibly some sort of genetic problem.

Medical History

I was hospitalized with pneumonia three times before I was 5 years old, once again in isolation ward at age 7. I also had several childhood illnesses including Rubella, chicken pox, and mumps. At age 5, I was diagnosed with exercise induced asthma and prescribed Quibron. Once I hit puberty, my respiratory problems seemed to resolve themselves as long as I avoided aerobic exercise.

At age 9, I was diagnosed with progressive sensorineural hearing loss (an indicator of mitochondrial disease that I only recently learned about). I had a curved loss with 60% gone in the higher frequencies down to about 40% loss in the low ones. My mother was also diagnosed with hearing loss that had gone unrecognized. My daughter also has a mild hearing loss that was diagnosed as an adult.

Major Life Stressors and Emerging Problems with Nutrient Absorption

From 2000 to 2012, had several major life stressors including the death of my second husband to colon cancer, a dog snapped at me and severed my lower lip, my third husband lost his job and attempted suicide, early retirement, bankruptcy, foreclosure on my home and then moving to a new state. I was diagnosed with post-traumatic stress disorder (PTSD) and received weekly trauma therapy for a year.

During the aftermath of the PTSD trigger event, I began having problems with nutrition. I would eat a meal and get no energy from it. After taking an early retirement from my job and losing my house to foreclosure, we packed up and moved out of state.

I never recovered from the exhaustion and stress of the move. We were nearly homeless one night after our car broke down and I had no more money because we had just paid the deposit to rent a house. I managed to leave all our keys in the car at the repair shop. My first husband wired us money for a hotel for the night.

The problems with digestion continued and my health seemed to go downhill. I was tired all the time and my brain was not functioning well. I tried going for walks but would come home exhausted. To make matters worse, we were scraping by on one third of the income I had before I retired and I had no health insurance. I didn’t know how to go about finding help in those conditions. I’ve always been in the system.

More Digestive Problems

In 2013, my digestive problems got much worse and I had diarrhea almost continuously for three weeks before finally going to the local university emergency room where I was surprised to find my blood pressure was 230/140.  I think they had to give me at least two potassium drips. After they initially got my blood pressure down, an intern came in to give me some sort of eye exam.  He started lecturing me on using the ER for primary care. He then proceeded to interrupt me when I tried to tell him about zonking out (see below). My blood pressure went up 100 pts before he was finished. That experience just increased my reluctance to go to physicians when I am sick.

I was admitted for four days and my major systems checked and seemed fine.  They gave me scripts for Lisinopril and Coreg and referred me to a local clinic.

The NP I saw at the clinic put me on 1000 mg Metformin ER.  She referred me to a GI who diagnosed me with GERD, Pancreatic Exocrine Insufficiency of unknown cause and prescribed Omeprazole and Creon.

The diarrhea died down but I continued to have steatorrhea and my energy did not improve. I had a constellation of general vague symptoms as well as unusual ones. I also continued to have problems eating. The recommendations for GERD are to eat small meals a day. I found that five small meals of no more than about one cup of food a day were all I could tolerate. I also stopped eating vegetables or high fiber foods. Even following those rules there were many days when I had nausea and could not eat very much.

My type 2 diabetes has not been that bad, but my day to day glucose readings were very variable. My A1C was 6.5 2013, 5.8 in 2015, 6.8 in 2016, 7.0 in 2017, and 7.4 in 2018. As I try to get health care professionals to address my problems I keep running into diabetes. As if my diabetes where the cause of everything I could ever experience. I recently ordered a fasting C-peptide test which showed I was in the high normal range. Glipizide did me no favors as it likely increased my insulin resistance.

I know what is normal for my body and what is not and what I have been experiencing is NOT NORMAL!!

Catatonia-like Episodes upon Eating

Starting in 2013, I started having episodes that I call zonking. I would eat something and almost immediately get very sleepy and usually would just fall into a sort of zombie-sleep-like state for 10-30 minutes. Sometimes it seemed sort of catatonic and others is was more like a strong urge to sleep. It wasn’t normal sleep in that there was no dreaming. Sometimes I was in a kind of frozen pose instead of laying my head sideways or getting comfortable. At first it seemed like they were correlated with high-availability carbs, but over time they became an almost daily occurrence with any type of food I ate.  These episodes would sometimes disappear for a few weeks and then reoccur. There was no pattern I could discern nor tie to hormonal cycles.

I have been keeping daily logs from 2013-2016. I reported the zonking episodes to my NP and she prescribed Lactulose which just made the diarrhea worse. She ordered an ultrasound on my gallbladder and liver and no major problems were found.

The zonking episodes were really disabling. I would be feeling fine until I ate something and within a 1/2 hour I would zonk out and feel very groggy afterwards. It didn’t feel safe to drive so my husband had to take me shopping or do the shopping himself when I was too tired. I didn’t drive from 2013 to 2016. At times, I didn’t want to eat at all so I could keep myself functional long enough to do something. I found out the limits of fasting pretty quickly.

Left Temple Headaches, Migraines with Visual Aura, and Cognitive Deficits

I also had left temple headaches starting in 2013 and a few migraines also involving left temple pain but mostly just visual aura. I never had migraines previously. After I fell going up the concrete steps to our front door, I became very cautious about moving when I was in one of these states. I noticed that I became very clumsy with tasks that you normally don’t think about like opening a can or a pill bottle.

I also noticed a significant decline in my ability to comprehend speech when I was in one of these states. This was first mentioned in my logs in 2013. I have always had a problem due to my hearing loss but there seemed to be a magic something taking place in my brain that took care of turning sounds into words. Somehow that process was failing when I was in the dizzy and ditzy state.

My condition was deteriorating in 2016 and I was experiencing more severe brain problems that are what I now call dizzy and ditzy. Dizzy and ditzy feels like being very drunk. I was spending more and more time in bed which was making my diabetes worse. When my brain was functional I was researching and trying to figure out what might be causing my condition.

In August 2016, I came across a description of gluten ataxia. The symptoms seemed similar to what I was experiencing so I tried eating a gluten free diet for a few weeks and started feeling better. After two weeks, I decided I was imagining the improvement and tried eating something with gluten in it. After about two hours I began to experience the dizzy state and the left temple headache.  From that time I have remained gluten free.

It was my intent to get tested for Celiac at my next appointment, but my husband was hospitalized in October 2016 for sepsis due to undiagnosed type-1 diabetes. This was the worst kind of trauma for me because my second  husband died of colon cancer. Knowing that, I applied the techniques I learned during trauma therapy to keep my stress level down. As a result I was able to return to the hospital for his follow-up visits with no increase in blood pressure or other signs of HPA activation. I think it helped me overcome my doctor phobia and I have been increasingly more able to deal with medical situations. My health and energy levels were also improving due to the gluten free diet. I tried various diets and found that I had the best energy levels on a gluten free vegan diet.

Since I did not get in to see my primary until six months had passed gluten free my celiac tests were inconclusive. I found a really good allergist and in January 2017 was diagnosed with 44 food allergies including wheat, barley, oats, eggs, milk, and assorted nuts, fruits, and vegetables and yeast which is everywhere. Six months later, I was diagnosed with multiple environmental allergies. My condition began improving dramatically as I stopped eating the foods that I was allergic to.  However I found that I was still unable to eat solid food and get energy from it. Meanwhile my NP added 10 mg glipizide which caused hypoglycemia when I was feeling well and active.

I didn’t experience any more dizzy and ditzy episodes from October 2016 through March 2018.

Diet and Malnutrition

I did have, and still have, episodes where I become very sleepy and nauseous after eating something. This leads to a feeling of being ill and not enough energy for normal activity. My condition improves if I semi-fast for the remainder of the day and then reduce my intake of protein and fat for a few days. As a result, I became more depleted nutritionally as time went by.

I don’t think I’ve managed to convey to anyone just how my diet has shifted from normal and especially what they seem to expect of diabetics. Many days I was unable to even manage 50 mg of protein and if I didn’t eat enough carbohydrates I had difficulty sleeping. I was on homemade liquid meals from 2017-2018 and only recently was able to transition onto whole foods after stopping Metformin.

I still struggle to explain why I suspect nutritional deficits in the face of a body that is down 10lbs but still 220. I think my body compensates by doing things like lowering my body temperature. It was 96-97 on a regular basis over the past 6 years, yet my thyroid panels are normal except for high TSH which may be due to my Biotin supplementation. In May 2018, I had more thyroid testing done.

• TSH: 7.5
• fT3: 3.1
• fT4: 1.34
• rT3: 22.2
• TPO: 12
• Antibody <1.

Sometimes my body heats up immediately after eating.  I’ve also had iron deficiency anemia where my hands and feet got painfully cold. Sometimes I get chilled and find my body temperature is 95.8 – even in July.

Other Weird Symptoms

Visual Disturbances

I haven’t been able to match up these phenomenon with technical names so I am just describing them as best I can. There is some overlap as I am not sure what is part of which phenomenon.

• Problem:  After-images occurring too easily
• Duration:   3-4 years
• Frequency:  Intermittently – seems to be worse when I am having diarrhea episodes
• Details:  Can’t find exactly what these are called. In normal vision if you stare at something for a long time then look at a blank surface you can see a phantom image of inverted colors. What has been happening intermittently with me is that I will see these images instantly and they take longer to fade than normal. This is especially bad in the mornings. I made up a test for myself to track how bad my vision was on any day by looking at the GOOGLE logo. On bad days it bounces around in afterglow very strongly; other days not at all or not as strong.  Sometimes if we are out on a sunny day a glance at a bright reflection off metal will create a strong after image that persist for 20-30 seconds or more. I have to be very careful not to let my eyes linger on anything shiny.

Along with the above problem I also experience a kind of sparkle sometimes where if I look out the window, even on a gray day and then back inside there is a brief field of sparkle in my vision.

• Problem:  Seeing my pulse in my eyes
• Duration:  6 years
• Frequency:  Not as much these days, but was especially bad when my blood pressure was uncontrolled.
• Details:  I would see a grayed pattern around the lower outer edge of my vision that would flash in intensity seemingly in conjunction with my heart rate.

Finally, my left eye seems to flutter and roll.

• Problem:  Left eye flutter and involuntary eye roll and moving illusions in vertical images.
• Duration:  9 months in 2015, confirmed by eye doctor.
• Frequency:  Started very infrequently but has progressed to almost daily.
• Details:  Irritating flutterly feeling in my left eye. When I looked in the mirror I noticed the left eye was rolling left or attempting to roll left involuntarily. This may be related to another problem I have been having for several years where my vision wobbles. It comes and goes in severity, but if I look at any image that has strong vertical contrast it appears so move. For example a picture of a coliseum or tiger will appear to be moving like the way optical illusions move. The moving illusion also occurs more frequently when I am having bouts of diarrhea.

Migraines With Aura

• Problem:  Migraines with Aura
• Duration:  2 years
• Frequency:  3-4 times a year – sometimes in clusters
• Details: I get migraines where I see an aura. It starts with a blind spot in the center of my vision, in less severe ones it is more of a sparkle overlay and not as blind. The circle then becomes a semi-circle of the outer edge of each eye that becomes bigger until it moves out of the eye. Then pain comes or not. I can sometimes reduce severity by immediately going into a dark room and lying down. Sometimes I get the headache and sometimes just the visual aura. I mention these here because I have wondered if some of my visual problems are migraine auras that haven’t fully developed.

Allergy Shots and More Symptoms: Ophthalmoplegia, Dizziness, Speech Impairment

In January 2018, I started desensitization shot therapy with my allergist. In February 2018, I had another episode of dizzy and ditzy that was complicated by additional symptoms of hypoglycemia. After consulting with my allergist, he set my shots back a few weeks and set up a standing lab order to see if he could tease out the problem. In March, I had the worst episode of dizzy and ditzy I have experienced to date. It included ophthalmoplegia, dizzy, very sleepy, altered consciousness, and personality changes. I was walking with a sort of limp as if my left leg were injured. I laid down on a bench outside the allergist office until the sleepiness passed. When the people at the allergy clinic got back from lunch they checked my blood pressure which was normal and did a blood draw for labs.

I also had the worst episode of speech impairment ever. I remember thinking it was funny because it sounded like they were speaking so much gobbledy gook. I used mindfulness to notice and try to quantify what it was like. I noticed that my intellect was intact, which distinguishes the condition from brain fog where it’s hard to think at all.  But things like trying to speak or find words was hard and I got confused easily. Oddly, I had no problems reading and comprehending research papers and I could write, except I made more typing errors. I had a quarter sized mark on one of my arms from the previous day’s shots, but my allergist did not consider my brain symptoms to be due to the allergies. My movements and general condition was very much like being very, very drunk.

Up until that point I had associated dizzy and ditzy with gluten exposure. Once I was sure there was no gluten in the shots, I was a lot more worried about my condition. I regretted not going to the ER since that might have helped me get a diagnosis. As it was, the allergy doctor only checked my tryptase levels and blood sugar which was 119. That level of blood sugar is hypoglycemia for me. I start getting symptoms under 130. This second episode was much harder to recover from than the first and I had lingering symptoms for months afterwards.

Medication Reactions

The glipizide combined with 1000 mg Metformin ER for the type 2 diabetes was causing me severe problems, even as my energy levels and inflammation was improving. The repeated episodes where I had to lower my protein and fat intake was really difficult with the medications I was on.

One day I had a different sort of drunk feeling with sweating and distorted vision while out shopping. It got better when I ate something. I got home in one piece and spent the entire afternoon eating every hour until things improved. That was the last time I took glipizide. I started looking for a new primary who understood nutrition.

I found a new primary two hours away who seemed like a good fit but this story is already too long to describe what went wrong. Sometimes a bad thing has to happen before good ones. I found myself without a primary and experiencing more dizzy and ditzy symptoms. The problems started at the request of my new primary PA, I changed my metformin dose from 2 500 mg tablets in the evening to 500 mg morning and 500 mg evening. After a few days I woke up with a 206 fasting glucose. So I doubled down and started taking 1000 mg 2 times a day. That made modest improvement of fasting glucose but also caused steatorrhea and diarrhea to return.

Thiamine Pyrophosphate Order Delayed

I began taking 13 mgs of thiamine pyrophostate (TPP) in 2014.  Recently, I ran out of the TPP sublingual I normally take due to a shipping delay, so I switched to oral 500 mg Thiamine HCL capsule. Over the next two days, I had cramps in my calves, congestion and coughing after my normal light exercise and a body temp of 95.8 in the evening. Then another episode of dizzy and ditzy with mild ophthalmoplegia and dehydration. I was drinking salt water and still couldn’t retain water. I always drink my water with electrolytes and I went through a whole gallon in a day. My blood glucose was 289 in the evening.

I’ve been having problems with burning feet and neuropathy since March 2018, it comes and goes and makes it hard to get to sleep. I first reported mild symptoms of neuropathy in my logs in 2013. TPP and B2 and sometimes calcium supplements help.

Once TPP arrived I started taking it 3 at a time (3x13mg) as well as extra magnesium glycinate and other B vitamins, but my symptoms weren’t improving as much as I expected so I started looking for other causes.

While researching various genes, I came across a paper on thiamine transporters and metformin. I have at least one mutation in one of those transporters but it doesn’t have any established meaning that I can find. I had not considered thiamine deficiency as a possible cause for dizzy and ditzy even though the symptoms seemed similar because I was taking 13 mg of TPP sublingual daily.

I started easing off metformin and my energy and burning feet symptoms improved. A side effect was the metabolism issues that had kept me on a liquid diet improved and I can eat and metabolize solid food again.

Going off metformin caused a slight rise in my fasting glucose so I had a lab test run myself that shows I still have normal insulin production.  My glucose response varies quite a bit but I sometimes get good response when I do daily treadmill with glucose in the 110 range two hours after a meal

One night I had a lot of congestion and couldn’t sleep so I took a dose of 3x TPP and the congestion went away and I was able to sleep. I have had ongoing issues with lung congestion since 2010. I think this may be a return of the lung problems I had as a child. I believe my body compensated with hormones and is now decompensating due to menopause. The fact that the congestion got better after thiamine intake is worrying. But I have a strong placebo response so I have to be careful about creating correlations. The lungs issue has been observed by both my primary and my allergist.  I frequently get very thick mucus that may be due to inadequate fat digestion.

Ran out of Thiamine AGAIN!

I had a dizzy and ditzy episode with temple headache 7/11/2018. I went through three bottles of 60 Sublingual TPP in a few weeks and was unable to order more due to factory back order.  I researched other versions of thiamine. Benfotiamine was having no effect that I could detect. Sulbutiamine helped with some of the brain problems like short term memory. I had concerns that I wouldn’t be able to absorb some of the other forms due to my fat malabsorption.  Fortunately, I came across the blog where Dr. Lonsdale explained what “fat soluble” really means regarding lipothiamine and allithiamine, so I ordered both of those as well as liquid TPP from the UK.

Neither of those had arrived by July 14, when I took my last TPP. I had a return of symptoms over the next few days. I started using a B-complex that had TPP in it, but even with that I had another dizzy and ditzy episode that lasted several days. During that time, I got sleepy every time I ate a meal. My meals are small to start with because of the GERD: one cup lentils with tofu or a tofu taco with avocado. Both of those meals that were normally well tolerated gave me symptoms of sleepiness and fatigue.

I found a comment somewhere about the need for manganese, so I got manganese glycinate supplements and that helped ease the neuropathy until the Lipothiamine and TPP liquid arrived. The first Lipothiamine was like magic, my eyes cleared up in about 15 minutes. They do that sometimes after I eat. The neuropathy symptoms were down by the time I went to bed in the evening. In the morning, my feet were hypersensitive and I had leg cramps due to low magnesium. I still have to take extra magnesium during the day and at night as well as other B-vitamins. I have some mild brain symptoms too but they may be due to the stress of starting with a new primary.

The big difference is in my energy levels, which are sufficient to make it through the day and no burning feet at bedtime. I still have limited ability to metabolize food, I tried to add 1/2 cup brown rice to my daily lunch and it sent me into borderline dizzy and ditzy.  A typical day’s intake for me is 1 slice tofu, 1/2 cup lentils, and tofu taco with avocado, some vegetables, and a big leafy green salad with avocado, beans and nuts.  Sometimes I can have a snack of fruit but more than that I start having problems.  I suspect I have other deficits that may be slowing my recovery.  I am waking up at 1 am and having to eat something to get back to sleep.

I had another episode this past week. I was preparing my allergy records for a trip to ER and was very dizzy and clumsy and a band of pressure in my forehead. I had been taking 2 50 mg enteric tablets 3 times a day of Lipothiamine but was experiencing symptoms of illness after eating and tiredness.  I was only rescued from ER by modifying Lipothiamine dose so that it would be absorbed in my stomach instead of my intestines. I’ve had symptoms of  intestinal malabsorption which haven’t yet been evaluated by a GI.  I have checked several nearby GI practices without finding one who takes a self pay patient.

Genetic Testing

Genetic testing has helped me discover other problems I have involving metabolism. I haven’t cataloged all my mutations but I have a diabetes related set of 3 homozygous SNPs called TCF7L2. The way I understand it is that people with this phenotype have increased signaling mechanisms such that when they have excess fat, the pancreas responds by lowering insulin response to food and the liver increases morning glucose. Losing the weight, reduces the expression and returns things to normal. I have other  genetic mutations which may be impacting me such as MTHFR(++), MTRR(++), and a rare BCHE mutation that impacts my choline levels. It also makes me vulnerable to pesticide exposure. I have to take Trimethylglycine (TMG) and various B vitamins to keep homocysteine in check. If I don’t take enough TMG and CDP choline, I get depressed.

I am seeing a new primary who is a doctor of Internal medicine. The new doctor’s choices for medications are spot on for my genetic type, they both work on the GLP-1 pathway, but they also increase insulin response. I don’t see how that doesn’t cause hypoglycemia, since I have normal insulin production. I have more research to do before making a decision on new medications.

While I can see that the deficiency symptoms I have been experiencing may be a result of poor diet and digestion, the fact that Thiamine HCL did not work and my condition improved so much after stopping metformin leads me to believe I may have a genetic condition. I really need to find a university that is researching metabolic and genetic conditions so I can get a diagnosis.

Medications and Supplements

Most of these supplements were added in 2017 after I started homemade liquid meals.  Prior to this I was taking a sublingual B-complex & Magnesium glycinate.

Current Medications

• Singular 10 mg x 1
• CoReg 12.5  x 1
• Lisinopril 10 mg x 1
• Cetirizine HCL 10 mg x 1
• Omeprazole DR 40 mg x 1

Most of these were added when I started liquid diet

• B-6 Pyridoxal-5-phosphate sublingual 15mg  x 1 (more if homocysteine symptoms)
• B-1 Thiamine pyrophosphate (TPP) sublingual 13 mg x 1 (the one that is backordered)
• *TPP liquid 3 x a day or as needed with malabsorption due to intestinal swelling
• *Lipothiamine tetrahydrofuryl disulfate 100 mg  3 times a day with extra Mg.
• *Liquid CoQ10 100 mg x 3 times a day
• B-2 Flavin mononucleotide sublingual 18 mg  x 1
• B-3  27 mg  as Inositol Hexanicotinate, 25 mg as NAD sublingual 25 mg x 1
• Liquid B5 + Carnetine
• MethylCobalmin,  sublingual 1 mg x 1
• MethlyFolate (S6)-5-MethylTetraHydroFolate glucosamine salt  sublingual 800 mcg x1
• Biotin 5000 mcg sublingual 1 x
• Chelated Zinc, zinc glycinate  22 mg x 1
• Selenium as L-Selenomethionine,  capsule 200 mcg x 1
• Kelp 325 mcg Iodine,  325 mcg x 1
• TriChromium Chromium Picolinate, Chelavate, & polynicotinate, 500 mcg x 1
• Magnesium Glycinate (capsule at home) ~ 800 mg per capsule 50% Mg  x 2
• Liquid chelated Iron biglycinate  10 mg, Yellow dock  10 mg x 1 (not long term)
• D-3 5000 iu with K2 1 sublingual  125 mcg D3+ 90 mcd K2
• Ultra K with K2 softgel, K1-1000 mcg + K2 1400 mcg x 1
• Algae DHA 200 mg x 1
• Phosphatidylcholine softgel 1300 mg x 1
• Source Naturals Vitamin A as palmitate 1 x 10,000 iu
• Buffered C-1000 complex Calcium Ascorbate 1 g x 2
• Southwest Botanicals Mucuna Powder (self capsule)  ~ 810 mg x 1
• Citicholine (self capsule) ~820 mg, 1-2 as needed
• Nootropics Sulbutiamine 200 mg (thiamine derivative) 1 capsule, 200 mg x 4
• TrimethylGlycine (Betaine) 1 g x 2 with each meal containing methionine
• *Taurine 1000 mg
• Liquid Calcium, Magnesium, D3, Phosphorus as needed for sleep

 *Recent additions

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