A Few More Pieces of the Puzzle

A couple of posts ago, I mentioned that the Lord was leading me to look deeper into the autoimmune nature and genetic origins of my illness. Well, I have been doing just that. My worsening symptoms are helping to spur me on in my quest for information. Thanks to the Lord's direction, what I'm learning and what my doctor is learning, I am beginning to understand why I have been feeling like death warmed over.

As I have mentioned before, I suffer from methyl cycle (MTHFR) genetic defects. While the abnormalities in these genes do not gift a person with an undesirable disease from birth, they do predispose one to ill health. Based on what I am learning in Dr. Connor's book, Help, My Body Is Killing Me, these defects are basically latent genes that can be "turned on" during the course of a person's life, causing a lot of trouble including autoimmune disease. After doing some research, I conclude that I have suffered from methyl cycle defects for most of my life, but I feel I can pinpoint the specific events that fully awoke these sleeping little monsters--allergy shots (and corresponding steroid treatment) and my pregnancies. Dr. Connors explains that once the genes are turned on, they cannot be turned off. However, they can be managed by diet, supplementation and lifestyle alterations. I have a loooooooong way to go before I get to the management state, so for now I am one super-dysfunctional, toxic, autoimmune mess.

On Wednesday of this week, I met with Dr. Yakaboski for a consultation concerning what she learned at the MTHFR genetic conference last weekend. We have not yet received my highly detailed saliva test results via 23andme.com (due within 3 weeks), but based upon the case studies at the conference, she has a few good guesses about which defects I have. We already know that I have the homozygous A1298c defect from the blood tests Dr. Cave ordered back in October. Dr. Yakaboski suspects further defects including CBS and COMT. After two days of intense research, I am certain I have the CBS defect. I could be the poster child for this mutation!

CBS (cystathionine beta-synthase) initiates the trans-sulfuration pathway of the methylation cycle. Its job is to convert homocysteine (an amino acid) into cystathionine (the middle man) and its metabolites down the way, which I assume are very important. Symptoms of a CBS defect include:

  • Elevated urine sulfate level (CHECK! At my last appointment with Dr. Yakaboski, my urine sulfate level was at the highest possible reading of 1600+)
  • Low/normal homocysteine level (CHECK! This was confirmed in the bloodwork ordered by Dr. Cave.)
  • High blood ammonia levels (This has not been confirmed by blood test, but I show physical symptoms of having high blood ammonia including a "fog-like" state of the brain and severe bloating of the lower abdomen.)
  • Intolerance to sulfur containing drugs, supplements and foods (DOUBLE CHECK! Does anyone remember my downward spiral at the beginning of 2012? It was highlighted by several near death experiences with sulfa/sulfur substances.)
  • Adrenal exhuastian (CHECK! The presence of sulfate stimulates the "fight or flight" response, releasing cortisol in the body. The cortisol stress response is a good thing when being chased by a bear. It is life-saving in those kind of situations, but let's face it--I'm not being chased by a bear. Dr. Cave, Dr. Kuehn and Dr. Yakaboski have all three found that my adrenals are exhausted.  Did you know that you can naturally heal adrenal exhaustion by modifying your diet and lifestyle? You can!)
  • Brain fog (CHECK! My brain is so foggy that real life often takes on the characteristics of a dream. It's weird and unhelpful when caring for children and managing a household.)
  • Abnormalities in sugar control (CHECK! I have had blood sugar problems all my life.)
  • Difficulty sleeping (CHECK! CHECK!)
The CBS defect causes methyl cycle "middle men" to be turned into ammonia, more ammonia than the body is prepared to handle. When an overabundance of ammonia is present, BH4 (an essential cofactor of amino acid hydroxlase enzymes) is depleted. For every one molecule of ammonia, it takes two molecules of BH4 to metabolize it. So individuals with the CBS defect are BH4 deficient. Now, BH4 is muy importante. It is responsible for making the neurotransmitters dopamine, serotonin and norepinephrine. A BH4 deficiency also prevents arginine (an amino acid) from converting into nitric oxide, which is essential for neurological, psychological and cardiovascular health. Instead, the arginine is converted into free radicals (superoxide and peroxynitrite) which cause immunodeficiency, toxicity, and cell death. Funny story--I just told Brandon a few days ago that I felt as though every cell in my body was slowly dying.

After learning all of this fascinating information, my first thought was, "Where can I find a BH4 supplement?" But it isn't that simple. Until the other methyl cycle pathways are working properly, one should not begin BH4 supplementation. If a long-closed pathway is suddenly opened, a bad detox reaction will result. Detox reactions can be severe, and should be avoided when possible. Healing methyl cycle pathways is a process and a slow one at that.

I can't change my DNA, but I can change what I feed it. Step 1 of the healing process will be to change my diet.....again. If you have known me for any length of time, you will hardly believe the next words you read--I am doing away with meat. For awhile, anyway. It turns out that by restricting my animal protein, I can reduce my ammonia burden, preserving BH4, which will in turn allow my amino acids to begin making neurotransmitters and nitric oxide properly again. Going (mostly) vegetarian will also help my body achieve a more alkaline state, which is important. My body's environment is currently very acidic, a state in which disease of all kinds thrives.

In addition to avoiding meat as much as possible, I will also begin eating a diet low in sulfur/free thiols. Until now, I have been eating mostly high sulfur foods. Until yesterday, I have eaten three or more eggs every morning for breakfast, meats and high sulfur veggies for lunch and dinner, chocolate almost every day and as much farm fresh goat milk as I pleased. All of those foods are on the "High in Free Thiols" list. My eating habits have a lot to do with my increasing fatigue, state of yuckiness, depression, and sensitivity to toxins, but I had no way of knowing that until Wednesday. Changing my diet so drastically requires baby steps. For now, I will eliminate garlic altogether and reduce the number of eggs and the amount of high sulfur vegetables I eat. These vegetables include garlic, onions, broccoli, leafy greens, cauliflower, etc. As far as fruits are concerned, I am allergic to the ones high in free thiols, so no worries there. I will continue drinking meat stock, and strive to stay within the confines of GAPS because gut healing is still a very important factor in my healing protocol.

While I am eliminating several foods from my diet, I will also be adding foods. During the last two weeks, I have felt the Lord prompting me to try ghee (clarified butter) again. He just keeps sending me signals and information about ghee. God often speaks to me through repetition, so He has my full attention. On Wednesday, Dr. Yakaboski told me that a big part of getting well will be healing the mucous layer of my gut. Until I heal the mucous layer, probiotics will do me little good. If the probiotics aren't doing their job, I can't kill off the candida albicans, which inhibit gut healing. Foods that heal the mucous layer include ghee (I'm making some now, and I'm sure I will tolerate it!), ground flax and hemp seed, colloidal silver, slippery elm, marshmallow root, okra (yuck!) and sunflower lecithin.The plan is to add these food into my diet one a time every 3-4 days to be sure I can tolerate them. I am now keeping a food journal so I can track exactly what I'm eating and any reactions I may have.

Supplementation is in my future, but drastic dietary changes are enough to tackle at the moment. I will likely wait for my results to arrive and my consultation with the MTHFR specialist before worrying too much about supplements. I have enough to learn, absorb and implement for now anyway. Wouldn't you agree?

I covet your prayers at this time, especially prayers for my "inner man" (Ephesians 3:16). Ask the Lord to help me be aware of my dependence upon Him at all times. Ask that I will open myself to Him fully that He might fill me with His sweet Spirit. Ask for my protection against the Evil One and a wariness toward the weakness of my own flesh. Ask that He might grant me JOY, the real kind, the kind that can only be found in Himself. Ask Him for His continued clear guidance for my doctors and me. And give Him thanks in all things.

"Oh, that men would give thanks to the Lord for His goodness,
and for His wonderful works to the children of men!"
Psalm 107:8


Roberts, James C., M.D. "Methyl Cycle NutriGenomics"

Connors, Kevin, D.C. Help, My Body is Killing Me. AuthorHouse, 2010