The MTHFR Gene Mutation

So I went and had my blood test the other day to find out if I have this gene mutation and if so what types. Got to wait patiently now for my results… fingers crossed I'll have these back in the next few weeks.

In the meantime I have been doing a lot of research on this gene mutation and stumbled across this article that was actually really good at describing it in a way that I could easily understand…

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What a defective (mutated) MTHFR gene does to you

- A mutated gene functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, high copper or high mercury.

- The mutated gene doesn’t break down folate vitamins properly, which can cause high homocysteine, which can increase your risk of coronary heart disease, and related heart and BP conditions, as well as increasing your risk for dementia.

- Homocysteine is poorly converted to glutathione (your body’s chief antioxidant and detoxifier). You are then more susceptible to stress and toxin buildup.

- Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia, increased inflammation, increased free radical damage… and produce less SAM-e

- Less SAM-e can increase depression

- And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions.

- You can find yourself with high folate or high B12. i.e. your body will have problems converting inactive forms of folate and B12 to the active forms. So the inactive folate or B12 will simply build up. 

- The journal Molecular Psychiatry states that “Schizophrenia-like syndromes, bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene”. (2006;11, 352–360) 

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See the patterns that develop from this MTHFR gene being not quite right?

 

I've bolded other words that relate to me. I have a family members that have suffered with bipolar, prostate cancer and Alzheimer's… possible links there.

Some of the stuff related to gene mutations are pretty scary. If my tests come back positive this means that I will hopefully be able to prevent any future problems with the right supplements for this mutation.

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There are more than one mutation of the MTHFR gene

• Homozygous: means you have both copies of either the 677 mutation, or the 1298 mutation, one from from each parent.
• Heterozygous: means you have one copy of either the 677 mutation, or the 1298 mutation, plus a normal one from the other parent.
• Compound Heterozygous: means you have one copy of the 677 mutation from one parent and one copy of the 1298 mutation from the other parent.
• Triple homozygous mutations (more rare): an example would be one C677T, one A1298C, and a P39P or R594Q, for example.

Here are possible combinations:

• Normal/Normal for both 677 and 1298 (which is what you want!!!)
• Heterozygous 1298 / Normal 677 (i.e. one parent passed down a single 1298 mutation)
• Homozygous 1298 / Normal 677 (i.e. both parents passed down the 1298 mutation)
• Heterozygous
•  677 / Normal 1298 (i.e. one parent passed down a single 677 mutation)
• Homozygous 677 / Normal 1298 (i.e. both parents passed down the 677 mutation)
• Heterozygous 677 / Homozygous 1298 (one parent passed down the 677 mutation; both passed down the 1298)
• Homozygous 677 / Heterozygous 1298 (both parents passed down the 677 mutation; one passed down the 1298)
• Heterozygous 677 / Heterozygous 1298 (Compound Heterozygous: one parent passed 677; one passed 1298)
• Homozygous 677 / Homozygous 1298 (Compound Homozygous, meaning you have two 677, two 1298)

Genes are passed down by your mother and your father. Most literature states there are a good 40-50 different mutations of this important gene which could be passed down by one, or both or your parents. 

But only two are particularly problematic: mutations on the points at C677T and A1298C. The numbers refer to their location on the MTHFR gene. You will also sometimes just see them written as just 677 and 1298.

Are you overwhelmed yet?
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Not sure which combination I have yet but it will be super interesting to find out!!

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How to treat it

You can’t change a defective gene. But you can help it do its job better and minimize problems.

Some find their ‘folic acid’ lab test levels are high (it’s one of several folate vitamins) since a defect in the gene prevents your body from using it, so it goes high…unused. The recommended solution is avoid supplements and many processed foods with folic acid, especially if you are Homozygous (having a copy of the same defective gene from each parent). Healthy foods that contain folate should be okay, as would be the active form of folate called methylfolate as a supplement, also called 5-MTHF (5-methyltetrahydrofolate).

B12 might also be high, so patients tend to avoid the synthetic supplemental version of B12 called cyanocobalamin and instead favor the more useable methylcobalamin (methylB12), which will help break down those high levels. But the methylB12 will be used by your body in detoxing you from toxins, so you may need to start low to avoid detox side effects like fatigue, achiness, etc.

Another good B-vitamin is the methyl version of B6, called P-5-P.

Repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency, and that especially includes treating candida because of the toxins it releases, inhibiting proper methylation.

Some experts recommend eating clean, such as Paleo or the GAPS diet.

Avoiding exposure to toxins is important.

If adding methyl B’s cause you to over-methylate, taking time-released Niacin, 50 mg, can slow it down. Symptoms of over-methylation can include muscle pain or headaches, fatigue, insomnia, irritability or anxiety.

Minerals play a key role in several enzymatic functions. Vitamin C helps reduce oxidants. Molybdenum (500 mcg) helps break down excess sulfates and sulfites

This website http://www.knowyourgenetics.com/ offers suggestions on how to treat your defects.

High Copper/Low zinc

This can be a common finding when you have an MTHFR defect – a high level of the neurotransmitter copper, which will conversely mean your zinc levels will fall. And since the ratio of these two metals is highly important, correcting the problem is crucial, since high copper can be related to hyperactivity, depression, headaches, acne, frequent colds due to lowered immunity, sensitive skin and/or bruising, worsening hypothyroid, adrenal stress and more.

High copper can also make it difficult to raise iron levels, including your ferritin.

Vitamin C is known to help lower high levels of copper via detoxing, but patients report they need to go low and slow to tolerate the detoxing. Zinc is also used the same way – to encourage the lowering of copper, but the same caution with detoxing applies. Lawrence Wilson, MD recommends a nutritional approach to correcting the imbalance: remove IUD’s, avoid high copper foods like chocolate (ooooh noooo), seeds and avocados, avoid stress and more. 

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Sooooo long story short. It sounds like I quite probably do have some form of this mutation… I will just need to wait and find out which one and then find out how to correct my diet and supplement intake to reduce the effects that this mutation has on my health.


For the full article please visit http://www.stopthethyroidmadness.com/mthfr/

A couple more early symptoms

The other night when I was getting ready for bed I was I was pretty amazed by how RED I looked without actually having a rash anywhere on me except for a small spot on one of my wrists… it was the kind of red that I could draw patterns on my skin and it would stay there for the next 5 mins or so!

The next morning I also photographed another normal occurrence during TSW which still looks semi normal for me at the moment but has been getting worse bit by bit… my elephant knees!!

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Red Skin Syndrome (also know as Topical Steroid Addiction)…

is due to the dilation of blood vessels under the skin. Topical Steroids work by constricting your blood vessels so once you stop using TS, or in my case cut down dramatically, your blood vessels begin to open up again and become inflamed due to lack of TS.

Lichenification (which means thickening of the skin)

This is caused by prolonged rubbing or scratching of the skin, which causes the outer layer of the skin to become hypertrophied (overgrown) and this results in the skin having a leathery (elephant knee) appearance :(

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Thank GOD that both of these symptoms will eventually go away as my skin returns to normal and I don't itch anymore… just a bit of a waiting game I suppose.

Another interesting thing that happened (same night as my red skin pic) that I thought was particularly noteworthy, I didn't have any rashes or anything anywhere but because I had a 'thing' on the next day and didn't want people asking me why I looked sunburnt, I decided to put a small dose on in my usual trouble spots (hands/wrists, inner arms, shoulders and neck). Did my usual thing, since stopping moisturisers, I wet the patches with a soft cloth and applied tiny dabs, rubbed them in and let my skin dry….

Literally 10 seconds after application I was ITCHY ITCHY ITCHY in just these spots! And for the next 10 mins or so after! It hasn't happened before so I don't know what that was about but the best guess that I can come up with is that my skin was reacting as if it was a moisturiser?? Instant flare up?!

Whoo knows.

Anywhoo skin went back to normal colour next morning, as you can see my knees are pretty normalish looking colour…. SO until we meet again next week Topical Steroids….

Great video about Topical Steroid Addiction/Withdrawal

I found this video the other day and while watching it I couldn't help think... "This is me!":(

I think for anyone that doesn't quite fully understand this addiction this is a great video. It accurately describes TSA and TSW…

Moisturiser Withdrawal pre TSW part 2

So… since end of November I still haven't applied one drop of moisturiser anywhere (except my face and apart from a few days of using sunblock) and I'll admit that my skin has always been good in the summer months, but since I have stopped moisturising my skin has been sooo weirdly good!

Its the strangest thing!

My skin still doesn't produce its on oil very well and most of the time I have a very soft layer of dry flakey skin which is barely noticeable unless you look up super close at it… which I do all the time haha. It's especially dry after showering so I tend to shower every other day now which helps me feel a bit more comfortable.

I've been thinking about this whole 'moisturiser withdrawal' thing quite a bit lately and the main reason that I can come up with why it works so well based on my own skins reaction to it is that I have been diagnosed with so many allergies (dust mites, grass pollen, horses, cats, dogs, eggs, nuts… all nuts, nickel plus heaps more… oh did I say dust and grass?? so basically the whole world then) and I just feel that now that I have stopped moisturising, the outer barrier of my skin is so much tougher that it doesn't let these allergens get through the skin barrier quite so easily so it can't create that irritation.

I know there are probably heaps more scientific facts around this topic, but based on my non-scientific background thats the best way that I can explain how it works for me.

In regards to my itchiness, I still itch heaps.. maybe even a bit more than usual! But because I haven't had the redness and swelling in my skin quite so much over the last couple of months, I have actually cut down my steroid usage even more. 6 x in December. 5 x in January.

I can feel the deep itch sometimes though, the itch of my body trying to heal from the inside and I can tell that once I stop the roids altogether that there is going to be some serious itching and scratching going on. But I feel that now my skin feels tougher I am almost ready to handle this.

The other thing that I need to do is get tested for the MTHFR gene mutation which one super amazing blogger (Stopping Topical Steroids) discovered a few months ago which may be the cause of how I got addicted to this s*#t in the first place.

But for now I'm counting down the days. Sorting out my life here in Perth for my move back to New Zealand for my 6 month break to beat this demon…

Oh and when I say break I mean starting up my own online clothing and freelance design business!! Whoop Whoop!! Something that I have always wanted to do but never really had the opportunity. So I have decided that even though this may potentially be the most difficult thing that have endured my whole life, I want to start putting a positive spin on it from now on… there may be times when I am incapable of moving for days or weeks even… but for the rest of my healing time I am going to be working at getting this business off the ground and I guess I'll see where I go from there.

Moisturiser Withdrawal pre TSW

So I've been reading a lot on other peoples blogs about how moisturiser withdrawal helps for some with TSW and not for others.

In November my skin was actually getting worse (even though it was coming into summer) from the reduced use of topical steroids. Actually it got so bad that month that my TS use went up!! -- In a previous post I kept count of times per month that I would apply the cream and it was usually around the 7 days a month mark -- November I applied TS 12 times!!

I realised that I was reducing my usage and thats probably what was causing the increase in itch. But with all this research I'd been doing on Moisturiser Withdrawal it seemed I had nothing to loose as everytime I applied my greasy messy emollient I felt like a million crazy little fire ants with tiny tickly legs would crawl all over me for about an hour after.

I was getting so sick of having to apply full body moisturiser 3 times a day and still feeling dry! Sick of everything I touched getting greasy fingerprints all over it! And sick of being scared of going to bed and feeling like all my precious creams I'd just applied everywhere were just going to rub off again!

So one week before the end of November I stopped applying moisturiser to my legs... one week later I stopped applying it everywhere except for my face (for presentation reasons - still got to work and face people daily) and apart from the odd bouts of sunscreen on the beach days, I have not used moisturiser since!!!

Now this may not be a big deal for some, and when I tried explaining it to my family who were visiting for Christmas, they looked at me like I was crazy, and tried suggesting all these alternative creams. After a lifetime of applying moisturise EVERYWHERE because I though it was a necessity, after trying god knows how many different types, emu oil, coconut oil, shea butter, aloe vera moisturiser, olive oil (that I sometimes dreamed about being able to swim in) body butters of all different flavours and colours, I KNOW what my skin feels like, and a month and a week later my TS usage has dropped by half it was last month and I feel, well GREAT! Apart from the initial, like 'the rusty tin man' feeling. I am no longer scared of going to bed, or getting grease spots on all my clothing, phone, computer, stuff at work that I had to try and pretend that I hadn't been to one getting greasy fingerprints everywhere.

So what I am hoping with this experiment is that my skin will continue to toughen up a bit in the next few months and I can continue to reduce the roid usage until my withdrawal beginning in April.

Im actually getting a little excited and almost impatient to start the withdrawal, but the time for me is still not right. There are still things that I need to organise and money I need to save in order to have as stress free withdrawal in the first few months as possible.

I'm getting less and less afraid every day.

Remember… Good Skin

I just wanted to do one more post today to show how my skin is at the moment and how its been in the past so that I can look back at this and remember what my goal is!!!

Taken this morning, face is looking very calm

(don't tell anyone that 3 days ago I used a quarter of a cotton bud size 

of elecon on my top lip / cheeks as it looked like I had grown 

a red beard and had to go to the races the 

following day) <---- this is not a regular occurrence!!

1 - This is my most recent face pic (other than the one above it) taken only a couple weeks ago.

2 - This was almost 2 years ago

3/4 - Couple months ago

Yes, I like catching a few rays…. I know, I know, I know. I can just hear all my friends voices in my head RIGHT NOW haha but I just feel so much better with a natural tan. You can't see all my red spots quite as easily and the fake tans just dry my skin out something cronic and then go all flakey… and then very visibly patchy… plus vitamin D is good for you right! (DISCLAIMER - In no way am I endorsing tanning!! Normal skin people should definitely alway go for the fake stuff… your skin can handle it. This is just a personal preference for me at the moment)

Me and My Hair

So I've been doing a lot of thinking lately about how I can make myself more comfortable when I start the withdrawal next year. One thing that has started bothering me a bit lately is my hair… when I have a shower it irritates the skin on my back when I'm shampooing or conditioning (not from the shampoo or conditioner) it just generally feels icky, so recently I have brought one of those big tooth hair clips and I just clip it up while I'm waiting for the conditioner.

But the more I think about it, my hair is such a lot of work at the moment so most of the time I just have it tied up on the top of my head in a bun. So this is how I came up with the idea to chop it all off when I start the withdrawal, just to make my life so much easier and that much less icky.

 

I'm the one on the left with the curly brown hair 

that when straight is nearly down to my bum.

Potential hair lengths to make life a little easier.

Now, I've decided that I'm not just going to get it all cut off and swept away into the bin!! Oh no way!! Not after 3 long years of growing it all out. Na uh!

I have discovered this great cause called Beautiful Lengths [ http://www.beautifullengths.com.au ] where you can donate your hair to Pantene who get wigs made out of it to support women who are dealing with cancer. I would love to know that I can help someone else feel better about themselves because I know that at the end of the withdrawal, although it will be hell for who knows how long, I will get better again and be (relatively) normal.