MTHFR

MTHFR Mutation. Photo from MTHFR.net

In my spare time, I love to research topics that interest me. And one that keeps recurring in my world is genetics and how they affect our bodies, our brains, an our lives. One that has long been popping up in my world is MTHFR. In my reading about nutrition and wellness, and how my own body (and my child's) has manifested certain tendencies, I keep coming across research on MTHFR as a tie-in.


Okay, so a little background on MTHFR:


MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase). It is both a gene AND the enzyme that the gene produces. So a mutation of the gene MTHFR affects the production of the enzyme MTHFR. And there can be many different mutations.


MTHFR.net is fast becoming a favorite resource on MTHFR. 


Mutations in the gene can be tied to/the source of (the ones that have affected my family are in red, and the ones that have affected me personally (or one of my children) are bold in red ):

Addictions: smoking, drugs, alcohol

Alzheimers 
Amyotrophic lateral sclerosis (ALS)
Anemia
Anxiety
Atherosclerosis
Arthritis
Autism
Bi polar 
Blood clot
Breast Cancer 
Cervical dysplasia
Chronic Fatigue Syndrome
Colorectal Cancer  
Congenital Heart Defects
Connective Tissue Disease

Deficits in childhood cognitive development

Depression in Post-Menopausal Women 
Diabetes
Down syndrome
Deep Venous Thrombosis
Epilepsy
Epstein Barr Virus
Esophageal Squamous cell carcinoma 
Fibromyalgia 
Glioma
Gastric Cancer
Gluten intolerence 
Heart Murmurs 
Heavy metal toxicity
Hemolytic anemia
High homocysteine 

Homocystinuria
Hunnington's
Idiopathic male infertility 
Increased bone fracture risk in post-menopausal women
Infant depression via epigenetic processes caused by maternal depression 
Insulin resistant diabetes

Irritable Bowel Syndrome 

Leukemia
Low HDL
Lupus
Meniere's Disease
Methotrexate Toxicity
Migraine 
Migraines with aura
Miscarriage
MMA
Multiple Chemical Sensitivity 

Multiple Sclerosis
Myalgic encephalomyelitis  
Myocardial Infarction (Heart Attack)
Neuralgia
Neural tube defects 
Nitrous Oxide Toxicity

Non Hodgkin Lymphoma 

Oral Clefts
Panic Attacks 

Parkinson's 
Placental Abruption
Post eclampsia
Potential drug toxicities: methotrexate, anti-epileptics 
Pre eclampsia
Primary Closed Angle Glaucoma 
Prostate Cancer 
Pulmonary Embolism 
Retinal Vascular Occlusive Disease
Schizophrenia
Spina bifida
Stroke
Tetralogy of Fallot
Tight Anal Sphincters
Thyroid disease
Tongue Tie
Vaccine Injury
Vascular Dementia


Part of this list and the links taken from mthfrsupport.com, which also has lots of information and resources for further research on MTHFR.  Other parts and links are from MTHFR.net.


My neurologist (I have a neurologist!) said that because of the possibility of Spinocerebellar Ataxia, he will refer me to a genetic counselor. I am brushing up on my research on MTHFR because I have wanted to do the testing for awhile, and here we have the perfect opportunity. My mother is sending me a copy of her medical records, which hopefully will show her own genetic report, though if they were only testing for SCA, I am not sure we'd see anything about MTHFR. But wow, would I love to see her (and my brothers) tested for it. 


Testing for MTHFR (genetic counselors can also order the tests and insurance will pay for it)


If the mutation is discovered, additional tests to be considered.


The brilliant part is that in this wealth of information on MTHFR (and I am only beginning to scratch the surface, so expect more of these types of posts from me as I dig deeper), there is supplementation and other wonderfully proactive ways to live healthily with the mutations. Gluten and dairy free diets are of utmost importance, and movement of body, fresh air, Vitamin D/sunshine. And the supplementation can be tailored depending on the particular mutation and its coupling with other genetics. 


Here is a fun mind map of MTHFR. 


And now, down this rabbit hole I go! Whee!

I can haz head injury!

So I was able to churn out a few posts and then BAM! Post-concussive syndrome took me down again, so NO SKREENZ FOR MEH. Because they'd make my symptoms go haywire, and I couldn't move from the sofa because of the dizziness. It as like being hung over every day, but without he fun night of partying beforehand to make it all worth it "but I will never drink again".

And now I am back on the screens because two things happened:

1) I called Sophya Itskovich, who has been my NAET practitioner, my immunologist, my acupuncturist, my "Russian Grandmother", and I told her about my symptoms and what had been happening since the end of January. Unbeknownst to me, she did an energy balancing on me that Sunday, and that Sunday, no kidding, I began feeling better. With the exception of one very scary and down day*, I have been feeling better and continuing to improve ever since. I still need to be careful with screens after dark, and with too much artificial light. I also haven't been brave enough to try venturing into a large store with artificial lighting yet, but I am definitely functional during the day and on the mend.

2) * - I went to see the neurologist. This was the day - Friday the 13th - that was my really bad, down day - I was severely depressed, crying all day, in general gloom an doom/freakout mode. And then I went to see the neurologist. My symptoms were really buzzing - the office had new furniture and possibly carpeting, which was off-gassing, and it was driving my senses into overload - I felt like I was going to both throw up and pass out, and it was making me REALLY irritable. And crazy.

Then the whole place is lite by the worst fluorescent lights ever - you'd think that a hospital of all places (especially one called Sunnyside) would be more sensitive to the needs of patients, especially the neurology department. In the exam room, same thing - I was at least able to turn off the light in there, but there was still new furniture and some rubbery smell - the latex gloves maybe - I don't know. But gah, my blood pressure must have been through the roof. I was anxious, shaking, the whole works.

And finally he came in. And he patiently and slowly asked questions: about what happened, about my history, about my symptoms - and he listened as I explained every single one of them. He checked me out, and when he had to shine a light in my eyes, he was apologetic. He spoke calmly and slowly to me, and explained to me that he thought I definitely have a head injury, and that ALL of my symptoms are coming from the effects on my inner ear  - ALL of them (and there is a comprehensive list!).

I told him about my family history - my uncle and mother have been diagnosed with Spinocerebellar Ataxia, it is genetic, my cousins, brothers and I all have a 50/50 shot of having it ourselves. And he got it. He got me, and he understood my fear, and why these lingering symptoms worried me, and he totally validated all of my feelings, and as he did that and he visit went on, and he reassured me three or more times that NONE of my symptoms could possibly be ataxia-related because I have a head injury and they all started then.....my anxiety, fear, and blood pressure all began to melt and calm down.

He wrote me for physical therapy for my inner ear - physical therapy! I can make a difference here!  There is something I can do to actively help retrain my inner ear to know where my body is in space. And he wrote for an MRI - he said he wasn't sure I really needed one, but he'd get me one just to be sure - and that I could sign for it and keep it afterwards! I cannot WAIT to see the results of that test! Pictures of my brain! Woohoo!

The nurse came in and took my blood pressure at the end there, and
I told her she was smart for doing so  -had she taken it at the beginning it would have been through the roof! By the time the appointment ended, I was again feeling good, practically dancing out of the exam room and to the waiting arms of my family, who had been enjoying the sunshine outside. I have a head injury! Could anyone ever be so happy to have that diagnosis??? With PT to follow and an MRI? YES.

To top it off, the sun has come out (albeit intermittently) in Portland, and the city has exploded all over itself in beautiful multicolored bloom. SPRING is here, in Portland, and how amazingly perfect the timing. We spent our whole weekend lazily squeezing errands and "to-dos" in between our long stretches of time at the local parks, where we were running around, blowing bubbles, playing frisbee, and collecting sticks for my container garden.

If you ever come and visit Portland, spring and summer is when we really shine, and crazily so. Man alive, is it insanely beautiful here.

as the ankle heals

Well, you'd think that being laid up with a broken ankle would give me plenty of time to update, but somehow it is not so. Why? Because I have a wheelchair, and as such, am fairly ambulatory. I can roll over to my neighbours' house, or to the common house (with help down the ramp and through the doors). Because I am in pain and have to keep my ankle elevated and immobile, however, everything I do is much much slower than it used to be. So each little task takes a long long time. So taking a shower + resting and elevating my ankle on the sofa + meals + a bit of internet = a day. And then it's time to go to bed.

But! Today after we had brunch with our neighbours in the common house, I got to do some real socializing - that was really nice, since my socializing has been confined to my house and my direct next door neighbours' house since "that fateful evening". And after socializing, I actually puttered (wheeled) my way around my kitchen (which mind you, is not much bigger than my wheelchair, and I have gotten stuck in there more than once in the chair - something like this).

Where was I? Oh, right - in the kitchen. So today I was able to out together a pot of stock, get a chicken cooking in the crockpot (seasoned and with beets), and roast some more beets in the oven. This is big, believe me - I am so proud of myself!

I'm becoming pretty adept at this whole wheelchair/crutches thing. I cannot spend too much time on the crutches on account of my leg not being strong enough to hold my weight without the BURNING sensation after a few minutes. But they're awesome for getting myself to the bathroom quickly. And that is a good thing. I rather like the wheelchair, too - it's pretty comfortable and I can get myself anywhere. As long as someone is willing to be my driver, hefting the wheelchair in and out of the car and open doors for me, I can even go OUT of the house at some point with this bad boy.

Neighbours continue to be helpful and check in on me, and I continue to completely appreciate where I live. My garden is being a bit neglected, but we'll get to it. My seedlings are growing nicely. My hives are being built by my hubby. We are clothed, we are fed, we have friends, we have clean water and we have HEALTH CARE. Life is good.