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How the MTHFR Gene Mutation Affects My Physical and Mental Health

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At age 64 I found out I have a mutation in my DNA called MTHFR. I heard about it on Facebook from a friend. She listed the symptoms and they sounded too much like mine. So, having had a brain scan recently, I knew I did not have a stroke, and there were no tumors in my brain. I asked my doctor if I could have a blood test to check for MTHFR DNA mutation. When the results came, I was grateful someone had listened to me.

All my life I have felt a bit out-of-sync with the rest of the people I have lived around. As a child, I was well known for my temper which usually resulted in my running to my bedroom, slamming the door and being alone for several hours. I eventually came out of my room, acting as if nothing had happened. I have dealt with depression for much of my life, at certain times severe.

 

My friend posted on Facebook about an MTHFR gene mutation and the more I read, the more I related to the symptoms. It definitely piqued my curiosity, and I read all I could find about it. It seems like a fairly new discovery and not many doctors are aware of it. My doctor ran a blood test to check if I had the mutation. MTHFR stands for methylenetetrahydrofolate reductase.

According to MTHFR.net, the MTHFR gene mutation is a highly significant public health problem that is almost completely ignored. Millions have addictions, fibromyalgia, miscarriages, schizophrenia, severe depression, cancer, autism and pulmonary embolisms – just to name a few conditions which may be linked to the MTHFR gene mutation.

My mutation is heterozygous A1298C. There is also a C677T which seems to get more attention, but I found that symptoms associated with MTHFR mutations include: brain fog, headache, memory loss, hand tremors, chronic fatigue syndrome, fibromyalgia, irritable bowel syndrome, insomnia, muscle pain, delayed speech and hypertension. Signs that point to a mutation are a decrease in serotonin, dopamine, epinephrine and norepinephrine, ulcers, pre-eclampsia and elevated blood pressure, amongst others.

My own symptoms include insomnia, depression, speech delay, inability to deal with stress and muscle pain. Last year I had shingles. I am glad my doctor agreed to do the blood test. Although I have been taking medication for some time for each of these conditions, they have not been resolved. Two of my sisters also have similar symptoms, so I suggested they have the test too.

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Those with A1298C may have methylation issues which lead to increased toxicity. I was prescribed a medical food called Deplin. It is quite new, so it is very expensive, but I feel it is worth it.

With MTHFR, it is difficult for me to process amino acid homocysteine to an amino acid, methionine. Without proper methylation, my body does not repair DNA as well as it should, cannot detoxify heavy metals and chemicals, does not protect telomeres as well, cannot process hormones properly, does not provide me with energy or support neurotransmitters that prevent anxiety, depression, insomnia and brain function (all of which I have deficiencies in). No wonder I have low energy, severe insomnia, lack of memory and hepatitis B.

Things that affect methylation include environmental toxins, chemicals and heavy metals, in particular lead and mercury, and mental and physical stress. Also, certain medications – in particular, antacids. Diet plays an important role in methylation. I must eat uncooked leafy vegetables and be dairy- and gluten-free. I can feel a big difference when I eat the right foods and when I don’t. I must be ever aware of what I am buying also. Anything containing folic acid (a man-made substance) is not good for me. Try finding bread or cereal without folic acid in it. Nearly impossible! Folic acid blocks the folate I need from the food.

I am so glad my doctor found out I have this MTHFR DNA mutation. This helps me live the way I should and gives me a reason for the feelings I have.

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Thinkstock photo via kirstypargeter.

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How Learning I Had an MTHFR Mutation Changed How I Treat My Lyme Disease

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It’s been a long nine years with various health issues but Lyme has been the most difficult and longest journey of them all for me. Over the years I’ve done everything in my power to reach remission and saw multiple LLMDs, have spent years researching Lyme disease and treatments, taken various meds, supplements, antibiotics and herbs and made diet changes, lifestyle changes, etc… After I did extensive research to figure out why my body was not healing, I suspected I had a genetic mutation. In fact, scientists and geneticists are estimating 39-50 percent of the population has at least one form of the MTHFR gene mutation.

I requested the MTHFR gene mutation test from my primary doctor and behold, it actually came back positive! My doctor was quite impressed that I called that one! The fact that I’ve had various health issues over the past nine years, have seen over 50 doctors in the past six years, repeatedly complained about medications not working and not a single doctor mentioned or suggested testing me for this common and possibly life-altering mutation seriously baffles me.

Although this makes my Lyme disease more difficult to treat, I now know what I’m dealing with and how to manage it. I now have the answer. The answer to why my medications haven’t been working, why my body has been so inflamed and weakened by this horrendous illness. The answer to why I have 25 migraines a month. The answer to why my Lyme disease treatment has been unsuccessful over the past year despite my and my various doctors’ efforts.

I have started my Lyme treatment all over again since I have been taking a few weeks of Methyl B and Methyl Folate. This will help me better absorb all of my medications. Those this gene mutation are known to only absorb a small percent of the vital minerals and nutrients they should. This is no cake walk or easy fix, and there is no cure for the MTHFR gene mutation, only management to support the body and immune system so it better absorbs and heals.

This mutation also comes with a long list of side effects, risk factors and associated illnesses. The supplements for the MTHFR gene mutation must be adjusted accordingly and can come with nasty side effects while the body adjusts. However, these supplements will help my body better absorb vital nutrients, minerals and my prescription medications which is imperative during my Lyme disease treatment. Even though I was diagnosed with the more serious mutation form (homozygous C677T), I have high hopes that finally I can work on healing and getting into remission. If any of you are struggling to get better, have done everything “to the T” and have not seen any – if much – improvement, then I strongly urge you to get this test. This enzyme and its genetic factors are complex, so make sure you find a knowledgeable doctor to test and manage it if so. Please do not do a saliva/online genetic test which may give you skewed results and leave you to your own devices.

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A simplified explanation:

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that is controlled by our MTHFR genes which regulates our entire bodies, signaling when to turn on and off certain systems, how we absorb foods and medications, how we react to our environment and ultimately how we heal and detox. If there is a mutation then that means the body and most systems (cardiac, neurological, GI, endocrine) are not functioning properly and this factor can be detrimental to healing from serious illness like Lyme disease or autoimmunity since it affects how our bodies function, react and ultimately heal.

MTHFR word cloud

I hope this can help a few people and maybe give someone an answer they’ve been searching for as to why they are still ill. Lyme disease is so widely misunderstood as it is and this mutation complicates it even further. A knowledgeable and experienced doctor to address and manage both conditions is crucial to gaining one’s health back. I hope one day most or even all doctors are more aware of this mutation and its signs/symptoms and associated issues. This will not be the answer or issue for everyone but at least it’s food for thought. Find a knowledgeable doctor and do your research. Knowledge is power.

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Thinkstock photo via SilverV.

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Why I ‘Lashed Out’ as a Child on the Autism Spectrum

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When I was growing up, and still emotionally immature, I lashed out a lot. I knew it was wrong, and that only made me feel worse. It wasn’t something I could control on my own. Or at least, I hadn’t learned how to yet. For me, personally, it was an impulse and self-regulation issue.

There were so many times I would get frustrated or upset over something and would need to do something to release that energy. So I would break something (not because I wanted to, but because I’d underestimate my own strength and release the frustration that way). Or I’d rip up my homework. Sometimes, in a last-ditch effort, I’d hurt myself in hopes that it would prevent me from hurting others.

It’s not as though I wanted to make people upset. I just didn’t know how to control myself so I wouldn’t upset others. I needed help with learning and applying self-regulation strategies. Punishment rarely helped me in these situations because I already knew what I was doing was wrong. It frustrated me and even scared me because I could see it happening and I couldn’t prevent it. I would start to get even more upset, and possibly have a full-blown meltdown.

To try and stop it, I had to learn other ways to release my feelings. Maybe I would use a weighted blanket to calm myself. Or I would squeeze some putty really tightly. Or I’d go for a fast walk or swing on a swing. Even listening to some music with lyrics that I could relate to would help me.

As an adult, I still have moments like this. I may still crumple up my homework, but I know to stop and try to focus on my breathing while lying under my weighted blanket. I can see it coming, and while I can’t always prevent it, I now know how to handle it better.

If you struggle with self-harm and you need support right now, call the crisis hotline at 1-800-273-8255 or text “START” to 741-741. For a list of ways to cope with self-harm urges, click here.

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What It's Like to Be Exhausted by Day, Wide Awake by Night

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Sleep. Resting the body and mind for hours at a time. How to restore your body when you have had a long day of work or school. After a good night’s sleep, you wake up refreshed and ready to start a new day full of energy, and when the day is over start the process all over again. But what if sleep doesn’t refresh your body, refill it with energy? What if you’re unable to sleep at all? That is my daily struggle.

I am exhausted all day long, with no improvement. I used to try everything – coffee, energy drinks, espresso, naps…nothing helped. And then, when it comes time to go to bed at an acceptable hour, I’m not able to sleep, even though I’m so worn out I don’t want to get up to use the bathroom. I sit up all night, just praying I drift off into the darkness that I dream of. I wake up in the morning and realize I only got three hours of sleep. I get up for the day and do it all over again.

Some days are not as bad; I’ll admit it. Those days I do more than usual, like go to the store (I know, I know, but for me that is a big feat), go outside with my dog and spend more time standing up than sitting down. And I feel great about myself that day. Then, the next day, the fatigue sets in again.

It is a hard thing for friends and family to understand, me being tired all day long, every day. I can’t maintain a regular job, I can’t make plans (or at least keep them), I haven’t been to every major holiday with family in years…the list goes on and on. I’m thankful for the good days I have, even though they are few and far between. It gives me something to look forward to on the days I’m stuck in bed wishing I could be outside, swimming, walking, basking in the sunshine and just being the normal me.

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Thinkstock photo via KatarzynaBialasiewicz.

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The Many Years I Spent Doubting the Reality of My Condition

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In 30 years I had never heard of “mitral valve prolapse” or “inappropriate sinus tachycardia.” In fact, just the word “inappropriate” makes me feel rather ridiculous. In my teens I was in great shape. A lifetime of dance and cheerleading had kept me fairly fit, and I never really gave it much thought. I always had a history of another impossible-to-pronounce cardiology term: “premature ventricular contractions.” PVCs are just that feeling of your heart skipping a beat – and I knew they were harmless and normal, so I ignored them. I probably should have realized something was going on when it got to the point where those PVCs were starting to feel like getting kicked in the chest every time. But after one doctor my freshman year of college basically told me I was making stuff up, I never said another word for 12 years. However, over those 12 years what started out as a nuisance grew into a life-altering problem.

By the time I was 20 I had stopped dancing, cheering or generally doing anything physical. It seemed that even the slightest physical exertion sent my heart rate through the roof. Walking up a flight of stairs would leave me out of breath. Running to catch the train was like a near-death experience – I was doubled over, certain I was having a heart attack. But I didn’t say anything. Having been diagnosed with depression and anxiety, I thought it must all be a result of those. I must have been anxious about catching the train (or walking up the stairs?), and it caused my heart rate to shoot up. I had no reason to think that wasn’t true. And my anxiety wasn’t about to let me cause a fuss over the whole thing. So I ignored it. I called myself lazy and out of shape – so out of shape that I was too out of shape to even exercise. I blamed my “mental condition” for causing all of this drama. And every time it happened I hated myself more and more.

By the time I was 30 I had altered my life to work around what had become an impossible-to-ignore problem. I was always tired. Just walking downstairs to the car to go to the grocery store was tiring – forget about the process of actually pushing a basket full of stuff around, and then carrying it all upstairs and putting it away. One grocery trip would take several hours of pacing myself and would wipe me out for the rest of the day. I didn’t go out, I didn’t do things and I didn’t think there was anything wrong with that. Everything took considerable effort, and the more effort it took, the more I blamed myself.

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A chance encounter with a very perceptive cardiologist is the only reason I now know about this at all. He noticed that my heart rate tends to jump when I go from sitting to standing. I didn’t know that was unusual, or that it meant anything. He knew, he noticed and he decided we should investigate. And after wearing some contraption he called an “event monitor” for a few weeks, I returned and got the surprise of my life. It’s called inappropriate sinus tachycardia, and it’s real. I promise, it is real.

It took some time to process, but I wake up now with a new mentality. I’m learning, slowly, how to live with this. I take beta blockers to help control my heart rate, but they come with side effects: fatigue, weight gain and the complete inability to hold my liquor. They also tend to stop working after a few weeks and require a dosage increase. But still, I’m learning how to live with it.  I will never be a professional cheerleader no matter how much work I put into it, because I simply can’t spend hours dancing. Sometimes I can’t even spend seconds dancing. Sometimes I can go to the grocery store, clean the house and have energy to spare. But sometimes just standing up and walking to the next room to get a pen to make a grocery list is enough to wear me out.

The hardest lesson may be learning to admit to my cardiologist when everything is not OK. Despite the fact that he is the one who told me something was wrong, I still hate the idea of “complaining” about it. I don’t want to admit when PVCs are keeping me awake at night, or when my heart rate has started skyrocketing again from walking into the kitchen for a cup of tea.

On a good day I can spend half an hour working out, run errands, go to work, go to sleep and feel about as close to normal as it gets. But on a bad day I get out of bed and I immediately know. There will be no exercise because after five to 10 seconds my heart rate will be climbing past 140 and my body will be shaking, and I will have to stop. There will be no sleep because my chest feels like it gets kicked at random intervals, and my heart seems to just take a break from beating every so often while I lie there wondering what the upper limit is of how much medication I can take to try to make it stop. A bad day is one full of dread, anxiety and exhaustion.

But when I have bad days, or weeks, I’ve learned to stop the self-hatred and look at the last appointment summary they sent me home with. I didn’t realize it for about a week afterwards, but it lists all these things right there under “you were diagnosed with…” It’s a reminder that it’s real, it’s not just something I’m making up. If the guy with the medical degree thinks it real enough to put on paper, who am I to argue?

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Why My Cerebral Palsy Is Both a Challenge and a Gift

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Cerebral palsy has without a doubt been the biggest challenge I’ve ever faced. Twenty-five years as someone with CP has taught me one of the most important and valuable lessons many without disabilities never learn: there is beauty in even the biggest of hurdles.

It is because of cerebral palsy that I try to live life to the fullest; it is because of cerebral palsy that I have the strength to conquer anything. It is because of cerebral palsy that I have purpose and so much peace. I do have “off days,” moments where I wonder “why me?” but I think that is a perfectly normal human response. I get frustrated. I feel anger. I sometimes picture what I think I would have been like, what I would be into career-wise. But as I’m experiencing life, I’m slowly understanding so much more about why I have the gift of cerebral palsy.

Yes, I consider cerebral palsy to be a gift. For the last year or so, I have been starting into my journey of disability advocacy. It has shown me that not only do I have a story and struggles worth giving a voice to, but so does everyone else — disability or no disability. We are all unique and have our own challenges. Also, I have found that just about all families are affected by disabilities in some way; everybody has someone they know who faces this in some capacity. Society has labeled those who face challenges as “different,” but why don’t we start looking at it as a chance to make a positive impact on others? We do have purpose and we do add value! If our personal outlook changes, we might see less of a stereotype being built around us.

Disabilities can be a positive aspect of life. My goal as a young up-and-coming advocate is not to just share my story, but also encourage other people to get out there and find your voice. Each state has an independent living council. Each state has legislators who want to know the issues you have and how you feel about what’s going on in this country regarding those with disabilities. Speak your mind and do what you can. The country needs advocates. The world needs them. The worst feeling in the world is not knowing who you are; I believe the key to finding it is to use your gift and seize every opportunity that comes your way.

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