DNA Psplication

DNA Replication

Although I don’t understand it all yet, here is the story of why I dropped out of sight for the last six months. It looks like I am going to be OK, but for a while I thought I was destined to be the healthiest person in the cemetery.

I always knew there was a serious genetic problem in my family–I called it The Family Curse. I now know its name. It is MTHFR.

According to the Genetics Home Reference Library, MTHFR is both the gene that encodes the instructions for making an enzyme called methylenetetrahydrofolate reductase and the short name for the enzyme itself. The enzyme is necessary for dozens of vital processes in the human body, including making DNA. There are two common mutations that limit MTHFR activity, A1298C and C677T, with C677T having a greater effect. Decreased MTHFR activity is associated with cardiovascular disease, psychiatric disorders, miscarriages, birth defects, cancer, and many other problems.

The Human Genome Project, completed in 2003, sequenced the nucleotide pairs that make up human DNA and mapped our genes. Some estimates say that up to 60% of people on Earth have one or more mutation in the MTHFR gene. If you get a normal copy of the paired genes from one parent and a defective one from the other, you may function very well, with about 70% of normal capacity. If you get a bad one from each of your parents, the effects can be catastrophic.

I thought I was lucky because I didn’t have the most devastating symptoms that some of my relatives experienced (bi-polar disorder, depression, schizophrenia, anxiety, panic attacks, etc.), but a problem with the MTHFR gene interferes with many body processes. It blocks the production of serotonin and dopamine, the “feel good chemicals;” it prevents the conversion of the precursors of some of the B vitamins involved with energy production from being converted into their usable forms and allows the unused precursor, homocysteine, to build up in the body and increase the risk of heart attack and stroke. MTHFR is associated with miscarriages and birth defects, like spinal bifida, (which can be prevented with methylated folate but not synthetic folic acid). It also prevents those who have it from making glutathione, the body’s master anti-oxidant, reducing our ability to deal with toxins to as little as 7% of normal.

I was always a low-energy person, even as a child. I would be so tied after walking home from school that I had to take a nap (my mother thought I was just lazy). I was sick a lot and had lots of allergies, but I muddled along fairly well until the toxins eventually built up to the point that I could hardly function. The default diagnosis from multiple doctors was always the same, “fibromyalgia and chronic fatigue,” which just means, “We have no idea.”

This past January, my doctor ordered a series of blood tests as part of a routine checkup that included a genetic test for the MTHFR mutation. He didn’t tell me why he ordered it, but it was probably because of my history of allergies, chronic fatigue, and fibromyalgia, and the fact that I had been unsuccessful at detoxing heavy metals. I had gotten my mercury level down to normal with a chelating agent, but was still in the red zone for lead after over three years of detox.

The genetic test showed that I was double homozygous for the MTHF gene allele C677T, which means that both my copies of the gene were mutated. It is one of the worst possible combinations. The doctor told me that his other patients with the defect reported that they felt better when they took supplemental 5-MTHFR (folate), also called vitamin B9. I thought it couldn’t hurt to try it—I could always go back to what I was already doing, which was actually working quite well thanks to some supplements and a good diet. (I’ll tell you more about that later.)

He started me on one mg of 5-MTHFR and told me to increase the dose by one mg every two weeks until I got up to 15 mgs. I started having headaches at the lowest dose and they got worse with each increase, but he had warned that there might be a detoxing effect that would make me feel worse at first, so I pressed on. By the time I was up to 5 mgs, I quit taking it, but the headaches, now unrelenting, didn’t go away and I continued to feel worse. I tried going back to my old regimen, but it didn’t help. Before long I was so weak and dizzy and in so much pain that I couldn’t walk. The doctor didn’t know what was wrong but said I would have to start getting tested to find out. Since he didn’t take our insurance, he suggested I go to another doctor so the expenses would be covered. Months of searching for an answer followed as we went from one doctor to another who ordered all kinds of tests. We amassed a huge stack of lab results that all came back showing nothing.

I was rapidly losing weight but had no appetite at all. Dean was cooking good food for me and I tried to eat to please him, but it might as well have been cardboard and sawdust My weight dropped down to 97 pounds. My vision became so blurred I couldn’t look up or read anything and my brain was so foggy I couldn’t focus. I had trouble talking and swallowing and I was always cold. My muscles were constantly twitching and trembling and I was having frequent black outs that began with bright-colored, flashing lights and then everything would go dark. There were other annoying symptoms, like sneezing, coughing, dry mouth, congestion, nausea, and hiccups, but the worst part was the pain. I used a heating pad and a hot water bottle to try to ease the waves of what felt like electrical shocks in my legs. A 12-hour plus a 4-hour pain-killer would sometimes give me about three hours of restless sleep, filled with dreary dreams. All my body functions were failing.

Dean called the paramedics during one bad episode because he thought I was having a stroke. I was shaking badly and couldn’t talk. After hours in the ER, they told us that they had given me every test they had, including a brain scan, and found nothing. One of the nurses had to help get me back in the car and our son-in-law came up to help get me into the house. I have no memory of any of that (there was a water-proof pad on the bed the next day, but I didn’t ask about that.) It still amazes me that they sent me home, barely conscious and obviously very ill, rather than admitting me to the hospital.

If you have ever cared for a dying person, you know that there is no such thing as dying with dignity. Dying is messy and ugly and the best you can hope for is to get it over as quickly as possible. I doubted if it was even possible to come back after being so sick. I wasn’t afraid, just very sad. I told my kids goodbye. I wanted my mother.

I gave up–I really had no choice–but my husband persisted. He kept loading the wheelchair into the van and taking me from doctor to doctor, often one per day. We had our fist encouraging experience when we saw a rheumatologist who said he didn’t know what was making me so sick, but he recommended a 10 day trial of Prednizone. He warned that it was a very bad drug for long term, but said it could buy me a little time. I knew Prednizone was an anti-inflammatory and asked how that could help me when all my labs showed that I had no inflammation. He said, ‘Everyone has some inflammation,” and he ordered more sensitive blood tests that would show it. When the new tests came back, they also showed no inflammation… but the Prednizone worked like a miracle!

After one dose, the pain was gone and for the first time in months, I could sleep. That first night of blissful sleep felt like floating on a cloud. When I woke up, the sun was shining, the birds were singing, and I actually felt hopeful. After the 10 days were up, though, the doctor refused to give me another prescription. He said, “I know it is cruel to give you a glimpse of heaven and then snatch it away, but I can’t in good conscience, give you any more because of the danger of osteoporosis.” Within three days, I was right back where I started, but the dramatic effect of Prednizone was actually a clue about what the problem was–Prednizone is very similar to cortisol.

A doctor at Bastyr University, who was recommended by a friend, was the one who finally recognized the symptoms and diagnosed my problem. She said, “It looks like Addison’s Disease to me.” She took a blood sample for testing and sure enough she was right. My cortisol level was extremely low. She told me to go to an endocrinologist to get the proper treatment and gave me enough Prednizone to last until then.

The endocrinologist first said that she didn’t think I had Addison’s. “We never see this kind of weight loss and muscle wasting with Addison’s. When someone has the symptoms of low cortisol, we send them to the hospital, give them an IV, and send them home.” Yes, but what if no one did that for six months?

After she looked at the results of my blood test for cortisol, she said, “Well, there it is. It is a shame that you suffered for six months from something that was so easy to cure.”

I found out later that when the severe pain starts, you are experiencing an adrenal crisis. The NIH website says at that point you must get help immediately or you may die. They advise you to wear a medical alert bracelet and carry a hypodermic of cortisol with you at all times. I was in this crisis stage for over two months.

My latest tests have shown that my adrenal insufficiency was not an auto-immune reaction and it was not the result of lack of pituitary signals to the adrenal glands. So, at this point, the endo has no explanation for my low cortisol level. I also don’t know if all the other hormones that are made by the same glands are also low. Only the lack of cortisol is being treated. I’ve been searching for an explanation for what happened and how it could be related to the methyl folate that seemed so clearly to have triggered it. I found what may be an answer on the site of a Dr. Lam . I don’t know anything about him, but this sounds like what may have happened to me. Here are some excerpts from what he said about those who have MTHR mutations and adrenal fatigue syndrome (AFS):

 “…Sufferers usually have a wide variety of non-specific complaints that seem to defy conventional medical wisdom because laboratory tests are usually totally normal….                                                                                                                                                                                                                                                                                         It is unknown whether MTHFR is associated with AFS or not. If it is indeed associated the degree of correlation is also unknown. Much more research is necessary….

Due to the concurrent hypersensitivity of Adrenal Fatigue Syndrome sufferers to nutritional supplementation, paradoxical reactions can occur frequently. The use of methylated folate and B12 for MTHFR should proceed with care….

Over aggressive use of methylated folate and methylated B12 is a common recovery mistake in those with AFS as they can mask the underlying problem and worsen AFS.

Those with advanced stages of AFS need to be very cautious because they usually fare quite differently. Because of their already highly sensitized bodies and low threshold of stimulatory excitation response, any product including methylated folate or methylated B12 can further increase an excitation response and trigger an adrenal crash. (Emphasis is mine. JBB) The more advanced the AFS the higher the risk….”

The only upside to all this is that I now know that the rest of my body is in great shape! For a while, I thought that my only future was as the perfect organ donor. I am almost back to normal now. My right leg is weak and I get tired easily, but my weight is up to 106 pounds, my appetite is good, and I am sleeping well. Life is beautiful, and I am pleased to still be here!

Links to more information:
Methylenetetrahydrofolate Reductase (MTHFR) Genetic Polymorphisms and Psychiatric Disorders: A HUGE Review

Mayo Clinic’s description of Addison’s Disease:

Methylenetetrahydrofolate reductase: biochemical characterization and medical significance.

The MTHFR gene mutation and how to rewire your genetics by Dave Asprey

Chris Masterjohn’s podcast on Facebook:

(c) 2017, Judy Barnes Baker

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Judy Barnes Baker

The working title for my first book was, “You’ll Never Know What You Are Missing.” It summed up my goal: to make eating for health synonymous with eating for pleasure. Once you discover the secret, you will find that the very best food for weight management, longevity, the treatment and prevention of disease, and over-all health and happiness is also the most sumptuous, satisfying, and indulgent way of eating the world has to offer. You are invited to the feast. Enjoy!
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6 years ago

My goodness, what a terrible ordeal. I’m so glad you are better!

6 years ago

Welcome back! Your strength is amazing.

6 years ago

So glad you’re back. I missed your blogs. Wow, 5 mg seems like a lot of folate. I too am taking the folate for mthfr mutation. I was taking 2 mg daily but after a while the dose was switched to every other day according to my need based on a bio-meridian test.

Reply to  Judy Barnes Baker
6 years ago

It’s a bio energetic system that identifies the agents that alter the energy balance within your body. It measures the energy stress points on your hands and feet. It’s connected to a computer which can identify which organs are weakened or stressed, and foods that affect you. It can also test for all kinds of nutraceuticals to see what your body needs. It takes a lot of the guesswork out of what,how much you need and tolerate. It’s done at my functional medical doctor’s office.

sonya johnston
sonya johnston
6 years ago

I am doing really well on my methylfolate and cobalamin b12. My Dr started me on the protocol for my double c677. It has helped me tremendously (energy/anxiety). I want to do more research in this area since my Dr just retired, I want to be sure I continue to treat appropriately. I am looking into perhaps a professional consult with as they take other genetics into account also.
Sorry you went through so much turmoil. I always caution others when i discuss mthfr and my treatment and I always share a link to your story since we all react so differently.

6 years ago

I’m so glad you’re feeling better Judy; also glad you’ve discovered what the problem is…there’s little health until the “issues” are clear.
I like Dr. Lam’s website too. Discovered him several years ago.
Best wishes for improved health; take care of yourself.

Mary White
Mary White
5 years ago
Probably you’ve seen this, but it’s new to me. Hope it helps.