Other Genetic Mutations and 23 and Me Data

Where has Kathy Ireland been this summer?2014-09-26 13.32.462014-07-25 15.20.19

2014-10-26 11.15.48 Well, in a few words, rafting on the Animas, biking along the river, train ride to Silverton, Braveheart women, new friends, Utah family, wonderful Grandson time, Portland Farmer’s Markets, movies, amazing restaurants, jigsaw puzzles and new seaside friends….and finally back to Maui!

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That was the positive stuff of my summer…now on to the health issues.

In my last post I mentioned that I found I have a MTHFR gene mutation and active chronic Epstein Barr virus.  So, what next.  Well, as I was researching MTHFR I realized it’s important to find out what other mutations you have to know exactly how to proceed.  So I searched for people knowledgeable with analyzing gene mutations and a biochemist popped up right where I was living in Durango, CO, Steve Ottersberg, who is working through the Namaste Integrative Health Center.  Steve said before I do anything else I needed to request testing through 23 and Me.  For $99 they will send you the DNA test kit, you spit in the tube and send it back, they will then notify you when the data is ready.  FDA has requested that 23 and me provide proof that their data analysis is correct, so until that has been completed you can go through Genetic Genie, who, for a donation of $10, will put the raw data from 23 and me and analyze it and provide you with a report showing you all your methylation gene mutations in a simple easy to read format.

Sounds complicated but it was actually very easy.  It took me about 4 weeks to get the results. I did this and provided the reports to biochemist, Steve.  Steve then compiled all the data into a flow chart and assessment plan and took 2 hours explaining how each works and what I need to do to assist them…..whewwww!

So, that’s where I am.  Lot’s of information.  I know you’re  probably thinking….well, a lot of people probably have mutations and they’re fine…this is a bunch of hog wash.  Well, that’s true, people have mutations and it doesn’t affect them, but if you let your immune system get low, or you have Hashimoto’s Disease like I do, or you get a nasty infection, in my case Epstein Barr Virus, that lowers your defenses even further, it activates these mutations to the point they do become a problem.  Also, you can have just one mutation from one parent, which still allows things to work, or you can have a mutation from both parents, which makes it much more difficult.

So, I’m working on it, but it could still be a long road ahead.  I’m writing this because if you feel you’ve tried everything, you have a perfect diet, you exercise, you meditate, connect with people, worked on healing your gut, liver, immune system and nothing seems to work, you may want to look at infections, viruses, and mutations.

I’m currently spending the next 2 weeks on a low sulfur diet to reset the regulatory mechanism in methylation pathways.  The goal is to relieve the stress caused by excess sulfur metabolites.  This helps to reboot your methylation pathways, helping your body to absorb nutrients better and detox toxins much more efficiently.  This can make a big difference in your energy level, your moods, and your body’s ability to handle severe and chronic disease.

After this I will start taking 5-methylfolate slowly and increase over time.  I really think this is going to help because I was using a cream with just a little methylfolate in it and felt more energy.

From Eckhart Tolle’s book, The Power of Now, “If you cannot accept what is outside, then accept what is inside.  Do not resist pain.  Allow it to be there.  Surrender to the grief, despair, fear, loneliness, witness it without labeling it mentally.  Embrace it.  Then see how the miracle of surrender transmutes deep suffering into deep peace.”

MTHFR Genetic Mutations and Epstein Barr Virus

It’s been a long time since my last post.  I’ve struggled with convincing my current functional doctor to move on and start testing for other things because I’ve been doing all his protocols for the last four months and still am not feeling better.  Finally got tested through Labcorp for MTHFR gene mutations and Epstein Barr, which I tested positive for both.  I also tested for lyme disease, rheumatoid arthritis, and anti-nuclear antibodies, which were all negative.

So, a little about MTHFR mutations.  Methylenetetrahydrofolate (MTHFR) is a key enzyme in the folate pathway and is responsible for the metabolism of homosysteine.  There are two common mutations, C677T and A1298C.  I have both.  If you have just one you can still function, methylate folate, at 70%, but when you have both mutations, it cuts it down to 20%, which is more difficult to deal with.  This could very well explain my exhaustion but add to that a raging case of Epstein Barr Virus (positive is anything greater than 21.9, mine was 600) and I’m one pooped puppy. 

Next step with my doctor is for me to take three different products containing methylate folate as well as other supportive supplements.  I started doing research and decided this might not be the best thing to do, see http://MTHFR.NET/.  I went to a nurse that I’m seeing here in Durango and asked her if she was experienced in dealing with MTHFR, she recommended another clinic here who deals specifically with this.  They have three naturopath doctors and a biochemist on staff.  He said it could be detrimental to treat without checking first for other genetic mutations.  He asked that I order a 23andme kit for $99 which he can take the data and interpret for me.  This is also what the MTHFR. NET site recommends.  So, I sent my kit in today and will wait 4 weeks or so for the results. 

I’m hanging in there but realize now more than ever that controlling my stress response and not letting things get to me is more important than ever.  I love this quote from a Six Feet Under episode, “Why are you hanging onto your pain like it means something, it doesn’t mean shi*t.  Let it go.”  Find things to be grateful for and on the bad days just realize it won’t always be that way.  Much love!

Nitric Balance, X-Viromin and Oxicell-SE

I made it back from my trip… time with family in Utah…Blues Fest and golfing in Portland, Oregon with my brother and sister, then to Le Veta, CO to pick up my new “used” car, a 98 Toyota 4Runner….yahoo, finally have a car on the mainland again. 2014-05-14 12.41.042014-07-04 15.59.49

I continued on to Phase 3, taking supplements to help heal my adrenal and thyroid.  I did okay on my trip considering all the traveling I did and found it somewhat easy to stay on my diet, which continues to be grass fed beef, organic chicken, turkey, lamb and fish (wild caught salmon), tons of fresh organic vegetables and some fruit.  While adding certain foods back into my diet I found I could eat rice but not beans.  I reacted every time I tried them, sharp stomach pains and bloating.  I was able to add back most nuts and seeds, but not tomatoes as they seem to make my joints hurt, especially my ankles.  So, it’s getting better, I’m getting there, but the problem is I don’t really feel any better overall.  At my last appointment with Dr Scott I cried for the entire appointment.  I told him I wanted to move on to the next tests as I’m not feeling any better and doing everything he’s asked.  He again, gave examples of people he’s helped and said it’s different for everyone, but that he is not going to give up on me and that he and his staff care about me and want me to get my life back.  He said to just hang in there.  Dr. Scott said that it’s a gradual thing, you’ll have an occasional good day, then more, then more, until one day you’ll suddenly realize you can do things you weren’t doing before.  In two weeks he’ll redo my lab tests, see if they’ve improved at all and if not possibly do tests for Lyme disease, Epstein Barr, and MTHFR which is a gene mutation affecting an enzyme.  Here’s a great site that explains what MTHFR is http://www.stopthethyroidmadness.com/mthfr/ .  There is so much information on this site; places to find doctors and get testing…very helpful.

I feel like I’m doing the work and it’s time to move on now and find out the root cause for me, but I’m “hanging in there”…what else can I do?

From the book, “The Power of Now”, “The only thing that is ultimately real about your journey is the step you are taking at this moment.  That’s all there ever is.  Your journey’s inner purpose has nothing to do with where you are going or what ou are doing, but everything to do with HOW.”

Cleansing and ClearVite

Last two weeks were brutal…sorry to say.  This is a roller coaster ride from hell.  My doctor assures me it’ll all be worth it in the end…sometimes I find myself wishing for a different kind of end…not in reality, it’s just so hard to feel this way month after month.  I try to stay positive on these posts but I know there are others of you out there that know what I’m going through or more likely you’re going through even worse health tragedies.  All of us only have this life and these moments in our life to enjoy.  So regardless of what you’re going through keep moving forward and find things to enjoy in each moment.  The joy is there waiting, you just have to be silent and listen.

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Last Monday I did the fast using lemon and lime juice in water with maple syrup.  I drank sips every 15 minutes throughout the day.  The first day I felt quite good.  They say if you feel you must eat something eat a vegetable you don’t normally eat like brussel sprouts.  So I ate brussel sprouts and cauliflower in the evening.  All was good until the evening of the second day when I got a migraine.  Dr. Scott told me later that was a sign that my blood sugar was dropping and I needed to eat.  I wasn’t aware of that so I went to bed that night without eating.  By morning I was a mess.  I stood up and felt dizzy, so I dropped to the floor in the kitchen, then started having seizure-like jerking of my body, which unfortunately caused me to hit my head over and over against the refrigerator.  I know it doesn’t sound funny but every time I think about what I must have looked like I laugh so hard.  I guess it’s good to be able to laugh at yourself.  I contacted Dr. Scott and he said I needed to start eating and continue on to the next phase with the ClearVite.  It took me two days to recover from the cleansing debacle, then I had one incredible, wonderful, energy filled day.  I was hoping it would continue, but no luck, the next two days were the worst ever.  I have no idea why.  I called Dr. Scott again and he just said this is what it’s like.  It’s different for everyone and you have ups and downs but he still assures me to hang in there and I’ll be better.  He said these stages are just laying the platform that we’ll be building good health from.  So I asked him if there are other people he’s worked with that are similar to me, in that they have weight loss instead of weight gain.  Basically he said yes and gave me examples of different people he’s worked with and what their experience was.  The one thing that didn’t ring familiar with him was the pins and needles pain in my scalp and gums that I experience regularly.

So I’m taking off tomorrow for some traveling.  My gut is telling me I should just stay home, but I’ve made airline reservations and plan to visit family and friends.  I’ll just be as prepared as I can, rest and relax often, stay on the diet (which isn’t a problem, I love it) and the ClearVite and when I return I’ll start the 3rd phase which will be supplements that address my adrenal.  I felt like that’s something I need now, but Dr. Scott tells me that if you do too many things at once it throws it all off and nothing works.  I understand and appreciate that as I’ve been one to try too many things at once and then wonder why they’re not working.  In case you’re interested here’s a website for how the ClearVite Program works.  http://thekuhnclinic.com/PDFs/the%20kuhnClinic%20-%20CLEARVITE.pdf

From the book, The Power of Now, “Are you complaining in speech or thought about a situation you find yourself in, what other people do or say, your surroundings, your life, the weather?  To complain is non-acceptance of what is.  You can change the situation by taking action, speaking out if necessary or possible, leaving the situation or accepting it.  All else is madness.” 

 

 

Nocturnal Pulse Oximetry and New Hormones

This wonderful afternoon started 3 years ago with a Craigslist ad to rent Bill’s solar adobe home in New Mexico.  Mary Kaye from New York answered my ad, but even though it didn’t work out, Mary Kaye and I stayed in touch over Facebook with a shared compassion for photography, nature, kids, dogs and adventure.  Mary Kaye and her husband Dave were traveling through Colorado to spend a couple nights at this wonderful fire tower called Jersey Jim’s that’s rented out for $40 a night.  What an amazing experience.  The sun was behind the clouds making it a little chilly as Bill and I climbed the steps to the top.  When we stepped inside it was warm, serene and comforting with expansive views from every direction.  There was a bed in one corner, a stove and fridge with the fire finder compass wheel in the center of the room.  They had hummingbird feeders on all sides and as we walked around the outside the hummingbirds dive bombed me in their attempts to get their turn at the feeder.  Mary Kaye serenaded us with her fiddle playing from the ground.  Perfect afternoon….we really didn’t want to leave.

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Jersey Jim's Fire Lookout near Mancos, CO

Jersey Jim’s Fire Lookout near Mancos, CO

View from Jersey Jim's Fire Lookout

View from Jersey Jim’s Fire Lookout

Jersey Jim's Fire Lookout

Jersey Jim’s Fire Lookout

 

Mary Kaye playing the fiddle

Mary Kaye playing the fiddle

I wanted to get established with a doctor here in Durango and found a Integrative Medicine Clinic with a Nurse Practitioner, Renae Blanton, who was wonderful.  I gave her all my recent lab results and she had me do a nocturnal pulse oximetry test due to my red blood cell count being elevated.  It was very easy, just a small machine the size of a phone with a wire that attaches to your finger which measures your oxygen level as you sleep.  I haven’t received the results yet but we’ll see.  She said the amount of female hormones I was on was very miniscule and gave me progesterone pills 100 mg (I was only taking 15 mg) and I’ve ordered a cream from a formulary pharmacy for the BI-EST (was .2 mg) now 6 mg, Testosterone (was .5) now 10 mg.  The first night I took the progesterone I slept great and woke up feeling like a new person; energy, mood and otherwise.  Unfortunately the next day and those following were back to the usual exhaustion, achy muscles and joints.  Oh well!

During my phone consult with Dr. Scott he noticed that I was eating sweet potatoes for a snack with no protein. He said it was very important to eat even just a small amount of protein with it.  I asked for suggestions for protein that aren’t meat because I’m eating so much meat right now and he said he didn’t have any, but once I’ve added nuts back in it can be as simple as having apple slices with almond butter.  Currently I’ve been eating baked chicken, ground lamb, ground turkey and organic beef hot dogs…..and of course lots of veggies in the way of steamed broccoli, carrots, zucchini and mixed greens salads and smoothies with beets, ginger, kale with pears, blueberries and strawberries.  I’m loving it!   I asked him when I start the next phase of the diet and ClearVite powder and he said first I have to do a 3 day fast drinking only water with lemon and lime juice and Grade B maple syrup every 15 minutes.  Urggg!!  I said I was worried about losing more weight and he said he didn’t think I would but if I do then I can stop and move on to the next phase.  The purpose of the fast is to stabilize blood sugar and the purpose of the ClearVite is to cleanse toxins from your body.  So here I go.  I’m going to start the fast Monday, the ClearVite on Thursday and keep on moving forward.

Try this next time you feel like you’re waiting, (from the book “The Power of Now”), “Give up waiting as a state of mind.  When you catch yourself slipping into waiting…snap out of it.  Come into the present moment,  just be, and enjoy being.  If you are present, there is never any need for you to wait for anything.  So next time someone says, “Sorry to keep you waiting”, say “That’s alright, I wasn’t waiting, I was just standing here enjoying myself…IN JOY IN MY SELF

 

Liquid DHEA and Fish Oil

With determination and grit I’m hanging in there, but having setbacks last week with extreme exhaustion and vertigo has been a bit of a disappointment. The week before last I was so encouraged to have small glimpses of a normal life and was able to really ride my bike again.  It feels like total freedom to ride down a trail, all your senses coming alive, the sound of the river flowing swiftly by and a pinwheel of smells from pine trees to cottonwoods bringing back pleasant memories from childhood, smiling at people passing by, being grateful for my body’s ability to function in this way….like in the movie, “Fried Green Tomatoes” when she shouts, “Towandaaaaaaaa” being in the moment, feeling strong and doing what feels right.  I’m always second guessing why my energy leaves my body….did I ride my bike too far?  Did I eat something I shouldn’t have? Is there stress or things in my life I’m not dealing with that I need to? Probably….but right now all I can do is keep on keeping on, listening to my body telling me what it needs, finding ways to accept what is with joy and grace.

I’ve done 3 weeks with the RepairVite, Strengtia probiotics and diet. This week Dr. Scott said I would need to be on this diet for 5 weeks instead of 4 because the first week I didn’t take the correct dosage of RepairVite….Arghhhhh!  He added liquid DHEA, 5 drops sublingually every morning the first week, then 5 drops morning and evening thereafter and Metagenics Fish oil, 2 capsules 3 times a day.

Apex Energetics liquid DHEA 5 mg

Metagenics OmegaGenics EPA-DHA 500 EPA 400 mg DHA  600 mg

I asked Dr. Scott about why I’m experiencing the extreme exhaustion still and he said that his first thought is I’m not consuming enough calories.  He said I should have at least 1500 a day, which when he looked at my food journal it looked like I was close to that.  He said when I get back from walking or riding the bike have a sweet potato and some protein to build my energy back up.  He also reminded me that I’m at the beginning of a 9 part journey and to expect set backs at times but know that I will eventually feel better.  I lost another pound but he thinks it’s stabilizing and I probably won’t lose any more.

When I finish this 5 week diet phase I’ll begin the ClearVite part of the program, cleansing the liver, and will be able to start having brown rice and nuts…yahoo, and then start adding back foods like eggs, dairy, grains one at a time for 3 days to see if I have any reactions.  I believe reactions can be many things beyond the normal stomach pain, such as headaches or intense itching as well as emotional things.  Not looking forward to that.

A friend gave me a book that’s been inspiring me daily, The Power of Now, by Eckhart Tolle.  Here is one excerpt about helping yourself stay in the moment and not be in your head so much thinking about the past or future, “… ask yourself:  Is there joy, ease and lightness in what I am doing?  If not see if you can give more attention to the DOING rather than the result that you want to achieve and completely accept what is, and not resist it.”

RepairVite Program

I’ve been on the RepairVite Program for 2 weeks as of today.  Basically it’s a regime designed to support intestinal health by supplementing with enzymes and probiotics and following a diet to remove any possible inflammatory foods.  This means I can eat only organic meat (except pork and high mercury fish), vegetables (except nightshades; potatoes, tomatoes, eggplant) and most fruit except high glycemic ones like bananas.  I’m adapting and not feeling too deprived.  I tried a new recipe yesterday, coconut curry chicken vegetable soup.  Pretty darn good I’d say, but I still like the fish soup better.  I lost 5 lbs, which is not good as I’m already very thin (105 lbs).  Dr. Scott said if I lose too much I could possibly add some brown rice to my diet, but for now he’s not concerned.  My energy level is a little better.  I’m able to ride my bike a little further.  I tried the tai chi class today and met a couple nice ladies and exchanged phone numbers.  One of them mentioned that her church also has a lot of activities which sounds like fun.  Healing comes with balance in all areas of your life, so spirituality, friendships, doing things you enjoy are all part of it.  I also went swimming in the recreation center pool….10 minutes slow easy breast stroke then 10 minutes relaxing in the Jacuzzi….nice!

This week Dr. Scott went over my saliva lab results for the following hormones:

TTF (Free Testosterone, E1 (Estrone), E2 (Estradiol), E3 (Estriol), P1 (Progesterone), FSH (Follicle Stimulating Hormone and LH (Luteinizing Hormone)

The tests showed that my Estrone was depressed (mine was 13 should be between 26 – 64) and my Follicle Stimulating Hormone was elevated (mine was 611 should be 90 – 500)

Dr. Scott explained that FSH is secreted from the pituitary gland and regulates the production of estrogen and progesterone.  The hormone that I’m low in is E1 (estrone) which is derived mostly from the adrenal.  He said once I start taking DHEA and later pregnenalone this should help balance these hormones.  There were also tests for AND (Androstenedione) and DHT (Dihydrotestosterone)….mine were both low (AND was 53 should be 75 – 124 and DHT was 15 should be 15 – 75).  Interesting that in females, the outer part of the adrenal glands (cortex) and the ovaries release Androstenedione where it produces half of all testosterone and almost all the body’s estrone.  The hypothalamus and pituitary gland are known to be important in the control of Androstenedione secretion from the ovaries, adrenal cortex and testes in men.  So, I guess, if my adrenal is compromised it makes sense that it’s affecting these hormones.  That’s it for now.  I’ve included the lab notes below, if you’re interested.  Otherwise, I’ll be checking in next week.  Breathe, be present, find joy!

The lab notes show that my hormone values are in Zone 7 – Female Hormone Deficit.  Zone 7 represents a normal testosterone level coupled with deficient progesterone and estrogen levels.  This leads to a relative hyperandrogenic state, i.e. male hormone dominance.  The suboptimal estrogen and progesterone activity is usually associated with several clinical findings and symptoms:

  •  Atrophic changes in bone, skin, vaginal epithelium and breast tissue.
  •  Nervous System (CNS) dysfunction which includes cognitive changes, anxiety, panic    attacks, insomnia and depression with mood swings.
  • Somatic dysregulation in body temperature and vascular flow to skin and brain manifested as hot flushes, excessive perspiration and headaches/migraines.
  • Fertility related problems.

Typical action plan:

  1. Start with moderate progesterone or pregnenolone augmentation.
  2. Retest in 4 – 6 weeks.
  3. Adjust progesterone dose.
  4. Introduce estrogen when applicable.  Re-test 8 weeks later and then fine tune the doses.
  5. Follow up testing recommended annually.

I was also in Zone 7 for Estrogen – Pro-Atrophic, demonstrates low estrogenic activity coupled with normal progesterone levels.  The suboptimal estrogen activity is usually associated with several clinical findings and symptoms: (same as above) and said:

  1. Consider estrogen augmentation only if androgen levels (DHEA and Testosterone) are normal…my DHEA is low.
  2. Consider estrogen and DHEA augmentation in androgen deficiency (DHEA & Testosterone).
  3. Retest hormone levels in 6 – 8 weeks.