Home › Forums › MTHFR Stories › Share Your MTHFR Story (no questions here please)
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| November 16, 2011 at 6:53 am #365 | |
 Dr Ben |
We all learned about MTHFR mutations one way or another. The path we took to become aware of MTHFR mutations and how we handle them needs to be shared. I am inviting you to write your story about MTHFR and I will make it a dedicated blog post right here on MTHFR.Net. It is important you do this as others are suffering with MTHFR and are lacking the knowledge, experience and they need to read stories of people, just like you, who have been diagnosed with MTHFR mutations. Simply write your story on MTHFR. They are powerful to read and enjoyable. If you are having writer’s block and not sure where to start… Here are some guide posts (not set in stone) to help you write your story on MTHFR: - Why were you tested for MTHFR? - What were your initial feelings after being diagnosed with the MTHFR mutation? - Which MTHFR mutations do you have? - Did your doctor know what to do? If so, who is the doctor? Name the clinic and location. - If you are feeling better, what are you doing? - Have your family members tested for MTHFR mutations? If so, what was found? - What do you think is most important for people to know about MTHFR mutations? - Closing thoughts - Brief bio: Name (if you want to use it, otherwise use an alias), age, location I look forward to widening our community here at MTHFR.Net I look forward to reading comments left by others once you submit your story. You will soon see the positive impact it has. Please get the word out on this. Please Share, Tweet, LIKE, email and tell your friends and colleagues about this opportunity to get their story out there. Begin writing your story! Start a new Topic – you have to register here before you do. We do this to prevent spam. It’s fast and free!
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| February 28, 2012 at 2:05 pm #1098 | |
 Kim |
Hi all, My name is Kim and I live in a smallish town in South Dakota (moved here 1 1/2 years ago from AZ and it is not where I will call home but where I am for now). I am 42 years old and am married. I have 4 children (had 4 miscarriages in the first trimester as well), 20 year old son (who is healthy), 17 year old daughter who was born with Bilary Atresia (liver disease) that required a liver transplant at 7 months old, 7 year old daughter (who was born with Down syndrome and at 2 years old developed autism and JRA), and a almost 4 year old son who is pretty healthy but is having some dizziness and stomach issues. I just found out last week that I am heterozygous C677T after learning about it because my daughter who had the transplant has compound homo 677 & 1298. When we found out she had it (2008) they docs only said that if she wanted to get pregnant she should take some folic acid and left it at that. The reason they tested her was because she has developed portal vein thrombosis (blood clot in liver main vein) from her transplant. She has developed esophageal varacies from the thrombosis which are having to be banded off. She has some blood clotting disorders that cause her to bleed massively from the smallest cut so we have concerns that she could bleed out and die so the scope her every couple of months and band if needed. When they told me she had MTHFR it really stuck out in my head even though they did not make a big deal about it. I Googled MTHFR & Biliary Atresia but found nothing. When my youngest daughter who had Down syndrome developed autism and systemic JRA I again Googled MTHFR & Down syndrome, autism and JRA but at the time did not find anything except for one article from Jill James. I emailed her about it and she said she might be doing a study if she got funding and would contact me but never did. Three weeks ago when i was going through my medical files to go see a compounding pharmacist to help me balance my hormones I found the lab sheet that showed the MTHFR. I Googles MTHFR & Thrombosis and ding ding ding ding. I found tons of info on it and eventually found this website. I then found a ton about MTHFR & Down syndrome and autism. I am very excited to know that I was on to something for a while but frustrated that I had to find it and my doctors did not know anything about any of this. Even the transplant doctors don’t know about the link between people who have MTHFR & liver transplant developing thrombosis! They should know this!!! I am working with my kids ped to get them tested and go from there. It sure would explain a whole lot in our little family. It would also explain even more in my extended family that is full of autoimmune disorders like lupus, fibromyalgia, hashimotos thyroid, and many more as well as cancer, addiction issues, depression issues and more. I have had many problems develop over the years but the doctors never know what to do with them because they are all very rare or hard to figure out. I have had dizziness and occasional vertigo for 17 years with sound sensitivity and movement sensitivity. I went to many docs for this but until 6 months ago no one knew anything and sent me to a shrink. Six months ago they said I have Supererior canal dehescense in my left ear (a whole in the ear bone leading to my brain) that would require them to cut my skull open and move my brain to repair, NOT happening. they said I also have chronic subjective dizziness and depression and anxiety that cause more dizziness. It just does not sit right and I was not satisfied with that diagnosis but at the time I was at least happy to finally have one. I have had a ton of other things that have developed over the years but I just hate going to the doctor and hated being labeled so I rarely go. Now that I see the list of possible connections to MTHFR I feel like I finally have an answer to the years of chronic issues with no answers. In the past two years I have really accelerated with problems having heart palps that are scary ( I did have those checked and they say I’m fine but stressed-DUH!), developed dermographism (autoimmue hives where I can write on my skin and get hives-any contact causes hives), almost daily headaches, body aches and joint aches, and more. I’m happy to have found this site and to be able to learn what I can do to help myself but especially my children. I hope to reverse my daughters thrombosis and my other daughters JRA and reduce her symptoms of autism. I do feel a bit overwhelmed with what to do but am taking it slow. I started us all on MethylB12- 5,000 mcg per day and yesterday started myself and my daughter on Methylfolate 2,000 mg a day. We already are vegan and eat tons of fruits and veggies and flax seed. We take 2 tablespoons of flax a day for our omega 3′s but we also use chia seed and hemp seed too. We hope to start feeling better soon. I don’t want to go on and on so I will close with saying I’m happy to be part of this community of people who are also searching for answers all hosted by a compassionate doctor who is guiding us all. thanks |
| March 5, 2012 at 11:47 pm #1219 | |
 Beverly Hennager |
I am Bev and just found out I am heterozygous for C677T. I have had insomnia, fatigue and migraines since childhood. I have never been able to tolerate alcohol or caffeine. One cup of coffee and my face would be twitching. I was also very sensitive to drugs. I had very abnormal menstrual periods, that could last for months or not happen at all for over a year. I had at least two miscarriage. i was told over and over I was normal. In my late 40′s, nodules were found on my thyroid. Medication relieved some of my symptoms. Menopause was horrific with daily migraines, body pain and vicious insomnia. I contracted lyme disease in 2006 but went misdiagnosed for nearly two years until I was extremely sick. I have been treating lyme and the co-infections over four years. The discovery of this mutation is such an eye opener for me. Blood tests show I have hypercoagulation which means I cannot detox very well. It is very hard for me to tolerate drugs and get rid of the toxins from the die off of pathogens. Sluggish blood also decreases oxygen flow. The medications cannot penetrate deeply into the tissues. I am more fatigued and cannot think as clearly or remember. My immune system is compromised so I can’t clear up these infections. I have antibodies against my thyroid. Both adult children seem to be affected and I have asked them to get tested. The oldest has ADD and had fibromyalgia. It went away when she quit smoking; an indication of her sensitivity to chemicals and inability to detox. My son was diagnosed a little over a year ago with adult onset type one diabetes. I had an uncle with diabetes who lost both legs. This mutation can make diabetic neuropathy much worse. My grandmother died of a stroke. My mother died from diabetes and dementia. My father of cancer. The family is also plagued with alcoholism. It was chaos. Now it makes sense. I am so glad I found out about this mutation and for the information provided on this website. |
| March 7, 2012 at 2:55 pm #1243 | |
 Mikel Davis |
My daughter Madalyne is now 10 years old. At 18 months she was hospitalized for dehydration due to the stomach flu. From that moment on, she backlashed in her physical progression. We were sent from neurologist to neurologist with no results. At 3 1/2 we were sent to a specialist in Toledo, Ohio. Her name is Dr. Julie Miller. She believed Madalyne had Cerebral Palsy due to stroke at the time she was hospitalized. She wanted her tested for MTHFR. The results came back and we were sent straight to a hematologist at Toledo Children’s Hospital. Madalyne was positive for Heterozygous MTHFR. We were advised of no sports that could have any hard contact like baseball, basketball to minimize the risk of blood clots. Now after 6 years of having a diagnosis of CP due to a stroke from the MTHFR, we are back tos quare one being tested for different ataxias. Everyday we live with this unknown of what will happen with our daughter. Our other children have not been tested at this point, but will before their teen years. We struggle with finding a correct diagnosis for her at this point besides the MTHFR. |
| March 7, 2012 at 7:19 pm #1246 | |
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Kim |
I am back to add a bit more to my original post. I just found out today that I have fibromyalgia as well as costocondritis (which is chest wall swelling) and a bunch of tendanitis and bursitis. I read on this website and many others that fibro is linked to MTHFR. I started on 1,000 mcg L-Methylfolate and 5,000 mcg methycobalamin 2 weeks ago. I have noticed a slight increase in my energy but otherwise nothing else so far. I am considering increasing the Methylfolate to 2,000 mcg a day and then add some b6. I would love to hear what others are doing and how it is working for you. Anyone else on this board with fibromyalgia too? thanks |
| March 15, 2012 at 4:20 am #1334 | |
 Emily |
Thank you Dr. Lynch and to those who have shared! Knowledge and awareness is powerful. My name is Emily, I am 30-years old and I live in Salt Lake City, Utah. I am positive for C677T mutation and A1298C mutation. My Naturopathic Doctor (ND) is working with me to find answers for MTHFR DNA mutations–she referred me to this website–which I am very grateful for. In reading about MTHFR DNA mutations, I’m looking at my health experiences in a new light. I was diagnosed with endometriosis at age 19 after a cyst erupted into my ovary resulting in laparotomy surgery for repair–could this have been because of the mutations? I went through various hormone treatments for endometriosis and couldn’t get pregnant. Unexpectedly, I got pregnant a little over 2 years ago and have a happy, healthy baby girl (I plan to have her screened for this!). The endometriosis seems to have subsided after pregnancy but a host of new challenges presented after. I started feeling run-down all the time, and not just “new mom” run-down. Everything about me seemed to be altered: my moods, anxiety, my energy, ability to lose weight, and sleep–and didn’t go away or improve with time like so many said would happen, that pregnancy can do that but that I would eventually feel “normal” again. When I was pregnant, I became very, very swollen. My OB kept checking for toxemia (negative) because of how swollen I became. The swelling didn’t completely go away after birth and still continues today. No matter what I’ve been doing, I’m not feeling better, I can’t lose weight or reduce swelling and I have noticed an increase in cellulite. I exercise with a trainer 2-3 times a week for an hour and do Pilates equipment/mat/private sessions 3 times a week for an hour. Exercise does seems to help with anxiety and will boost my mood but isn’t helping anything else. I’ve done several gentle detoxes without results. In fact, I seem to be more water-logged after. It’s like my body decided to stay pregnant… I’m sure the c-section anesthesia hasn’t helped either. I also was born with one kidney–something else related? Like I said, it’s shedding new light on things! About 5 months after the birth of my daughter, I went to my doctor complaining of symptoms. My doctor tested and diagnosed me with hypothyroidism. We tried various thyroid medications and dosages with no lasting results. I decided to go see a ND for another outlook a couple months ago. We did several panels of labs, testing hormone level, adrenal function, etc. Labs showed very low cortisol, very low thyroid hormone but also low thyroid stimulating hormone (TSH), adrenal fatigue, low vitamin D, and enzyme deficiency. Additional research and labs showed the C667T and A1298C mutations. Now I’m here, learning about what this means and what I can do about it for myself and for others. I’m grateful to have figured this out early in my life and that my “symptoms” are mild compared to what could be. For treatment, I started taking Methyl-Guard Plus supplement by Thorne Research and included a B12 injection at the doctor’s office. My B12 levels are within normal range but want to boost it up. I am not taking any form of birth control or IUD and am currently taking, in addition to Methyl-Guard Plus, Nature-Thyroid 1.5 grains, Adrenal Support Formula supplement by RCL Labs, Dehydrone-5 supplement by Thorne Research, a multivitamin, Oscap supplement by Thorne Research, liquid vitamin D, and pituitary drops. PROGRESS TO BE CONTINUED… |
| March 20, 2012 at 1:47 am #1419 | |
 Amy |
I had always been relatively healthy. I hadn’t gone to the doctor in 20 years until about 2-3yrs. ago. I began having severe fatigue and the feeling as if I would faint all day long. I began injecting myself with B12 shots and still just couldn’t get off the couch. My family physician kept telling me that all my labs were fine. My hematocrit and hemoglobin were not in the normal lab levels. I found an internist that believed in taking a holistic approach and knew something about MTHFR testing, thyroid antibody testing, and Lyme disease. We began by testing my thyroid antibodies and I was diagnosed with Hashimoto’s disease. She recommended getting on a gluten free sugar free diet. I followed that and was still feeling poorly after a year. She tested me for MTHFR mutation- I am homozygous C677T. She also tested me for Lyme disease at the same time and I am positive for Lyme also. I am feeling better after starting on Armour thyroid, antibiotics, Paleo diet, and various support supplements. I ‘ve got a ways to go in treatment, and I am trying to get more testing done on other common, associated mutations to address my health in a more comprehensive matter. I’m trying to get as much information as I can on the mutation because I think that it will affect my Lyme treatment and recovery. |
| March 21, 2012 at 5:06 am #1447 | |
 Leslie G. Parish |
I was recently diagnosed with homozygous A1298C mutation. I was found to have a blood clot in the right lung, but nothing in the legs and the heart was in perfect condition. Both my father and paternal grandmother died of pulmonary embolism, which is why the genetic tests were run, in order to find out why I would suddenly come up with a pulmonary embolism. The hematologist said that since my homocysteine levels were normal, I had nothing to worry about, but that all my family should be tested for the MTHFR A1298C mutation. I happened to find this website, and when I saw the possible connections to this gene mutation, I contacted my sister ( a retired nurse) and read off some of the diseases/disorders listed here. Many of these are currently experienced by my mother, sister and brother, such as chronic fatigue syndrome, irritable bowel syndrome, migraine, demetia, hand tremors, muscle pain, fibromyalgia, high blood pressure, memory loss, etc. I don’t know if bipolar is also associated, but that has cropped up in various family members over the years as well. We also have a history of high cholesterol and high triglycerides in the family. Right now, the hematologist is not treating the gene mutation, but just the blood clot with coumadin. I have to wonder who I should see in order to monitor my health problems (blood clot, muscle pain, degenerative disc disease in the lumbar region, migraines, and muscle pain that cannot be pinpointed as fibromyalgia). I live in Houston, TX, and there must be some specialist who I can consult. |
| March 22, 2012 at 1:06 am #1451 | |
 Jan |
Approximately 25 years ago, I went from feeling very healthy to having my body fall apart. Within about a 6 month time period, I developed asthma, an allergy to my makeup and jewelry, dermatitis when using dish soap, allergies to Kiwi and Kumquat that put me into anaphylactic shock; but, worst of all to me, I started swelling with water. I went to so many doctors – neurologists, heart specialists, kidney specialists, endocrinologists, but had to travel from the Cleveland, Ohio area to the Mayo Clinic to be diagnosed with Primary Lymphedema. I was told I was born with very few lymph nodes or lymph channels. By the time I reached the Mayo Clinic I had put on over 100 lbs. of fluid. Fortunately, I was taught wrapping my legs, feet and toes and took off a lot of that weight. I’ve continued to develop auto-immune problems. I now have myositis where if I don’t take predisone, I can’t get up out of a chair. I also have Diabetes 2, Sjogren’s, and was diagnosed with “Leaky Gut Syndrom”. I have been very depressed because of all of my health problems and how they have restricted my life. My doctor said that she wanted to do one more blood test on me and sent me for the MTHFR gene mutation test. It came back that I have the heterozygous C667T mutation. I am now taking 800 mcg of methyl-folate twice a day and sprays of methyl-cobalamine. The change that stands out the most to me is that I have lost a craving for chocolate candy that was like a drug addiction it was so strong. Now when I look at it, chocolate could be cardboard for all it means to me. I think I must have been self-medicating myself with chocolate to obtain the dopamine effect and didn’t realize it. My youngest son has been going through such great depression that I have been afraid several times that he would commit suicide. I read on Dr. Ben’s website that visual migraines (which my son’s father had), could be a symptom of the C677T mutation. He was tested and he has the homozygous C667T mutation. He now takes Deplin and the methyl-cobalamine spray and said he is slowly beginning to feel better than he has in a long time. I hope for both of us to continue to improve and for my older son to also take the test. A problem that has developed since I started taking the Methyl-folate and methyl-cobalamine is that my blood pressure went up to where I now have to take high blood pressure medicine. I read on some other websites that others developed this problem also. My first symptom was headaches and face flushing that I never used to have. I checked with my son, and he is also now having headaches. It is hard, because neither of us wants to stop the methyl-folate/Deplin. I am so grateful for this website and others that are finally bringing this mutation and others to light and I hope to eventually read something about how others developed high blood pressure and how they handled it. |
| March 24, 2012 at 4:00 pm #1519 | |
 Karen |
My son is 27 and was diagnosed with Lyme at age 13. He was treated with 30 days of IV abx and symptoms abated. The followng year the symptoms (swollen knees) returned and he was put back on 30 days of abx. This time we were told that he was really cured!. The following year, age 15, he started having tonic clonic seizures. They told us it was epilepsy and started him on ever increasing doses of anti-seizure meds. He went from being an athletic, artistic, funny, good student who had lots of friends and interests to an overweight hermit who sat in his room and listened to music. This happened gradually over a period of years. He graduated HS by the skin of his teeth and was going to a community college, when he told me in the middle of a semester that he had dropped all his classes, because he couldn’t read or do math. Oh yes, he was also hearing voices. Fast forward to many doctor visits, hospital stays and tests and a diagnosis of “We really don’t know what he has, but we think he should see a psychiatrist”. He was tested many times for Lyme and many times we were told that he “absolutely does not have Lyme.” After getting copies of his tests and medical records, we found that he absolutely tested CDC positive on every Lyme test he was given! For 4 1/2 years we took him to the best LLMD in NY and he got about 75% better. This doctor said that we should test him for “everything” and that is how we discovered that he is positive for one copy each of A1298C and C677T. He is also dealing with a COMT polymorphism. We found Dr. Amy Yasko’s protocol and a practitioner who could help us with testing. A year ago tomorrow, we sent the blood to Yasko’s lab, but have never gotten any answers. All they tell us is that they are working on it. In. Jan. 2012, they asked for more blood, which we sent, but still no answers. In testing for “everything” we have also found that he has haplotypes 13/5/52B and 14/6/52B for mold and lyme issues. We have had our house remediated for mold and found a functional medicine doctor who has put my son on the Patricia Kane protocol. Two months in and we are not seeing any improvements; if anything there is an increase in his seizures. They have been giving him Methyl B12 shots once a week and supplementing with sub-lingual B12 daily. With the IV phoscholine, he gets leucavorin followed by a push of glutathione. We have also recently discovered that he has elevated levels of nagalese. I feel that until we can get his methylation issues under control, we won’t see any real improvement, because he just can’t get rid of his toxins. |
| April 14, 2012 at 9:25 pm #1906 | |
 Nicole |
I am compound heterozygous for mutations A677T and A1298C. Cystic Fibrosis mutation as well. |
| April 23, 2012 at 7:35 pm #1966 | |
 mel |
I found out I had the MTHFR DNA mutation(2 copies) after 2 miscarriages and a life of pain and health problems. I was told to take folic acid to prevent spina bifida in my baby. A doctor at UPENN said this was pointless after 56 days of pregnancy…. Rewind…at age 15 I was diagnosed with CFS. At about age 19 I was diagnosed with Fibromyalgia…and at age 27, 6 months after the birth of my first child I was diagnosed with Lyme Disease and Babesia. Every symptom mention on this page, I have experienced at some point through out all of this. I am currently on treatment for Lyme Disease and hope this DNA mutation does not hurt my recovery. Is there some sort of medicine people take for this MTHFR DNA mutation? Should I be on something i wonder? |
| April 24, 2012 at 2:57 am #1969 | |
 Lisa C. |
I am a 33 year old woman who has had a history of chest pain, heart palpitations, chemical sensitivity, anxiety/panic, and gastrointestinal issues. I first discovered all of this at age 18 when I was taking oral contraceptives for intense menstrual cramps (cramps lasted upwards of 48 hours causing me to miss school/work). I sought a cardiologist who diagnosed me with mitral valve prolapse and told me to stop taking the pill. I did, but the symptoms persisted for years. I noticed that different types of food triggered chest pain (caffeine, sugar, fat, salt) and I generally stayed away from them. After a few years I introduced some of those things back into my diet and as long as I did so in moderation, the chest pains were tolerable. I tried birth control again in my mid-20s and did not notice any significant increase in chest pains, and actually my GI tract seemed to be calm during this time. After 4 years, my cycle had become irregular, and I decided to go off birth control again in hopes of giving my body a rest. My cycle continued to be irregular for a few years so I decided to try the pill again in August 2011. By mid-October I was experiencing severe chest pains, pain in my left arm, shoulder, leg, jaw, general weakness on my left side, intense mood swings, severe anxiety, and sensitivity to wheat. I went to ER on a particularly scary evening and they said that all was well with my heart and I didn’t have any blood clots. I stopped taking the pill, the symptoms have diminished, but they still bother me (even as I type this). I did a follow up with my primary care physician after the ER and she suggested that I be tested for the MTHFR defect. The blood test revealed that I am compound heterozygous for MTHFR. She gave me some samples of Deplin (15mg) and told me to try them. I have noticed that my anxiety has minimized and I am able to deal with the pains that I am having, but they have not gone away. My mother and sister have both been tested and they also have the compound heterozygous mutation. Our docotor told us about your website and I visited today for the first time, honestly I feel totally overwhelmed. I feel that I have not reached the methylfolate balance yet. I have changed my lifestyle (social smoker, drinker) and been gluten-free since the ER visit. Since these changes I have noticed a marked difference with my quality of life, but the pain is still here. I don’t care what changes I have to make, I really just want to be pain and axiety free again. |
| April 25, 2012 at 10:01 pm #1991 | |
 Matt |
Okay, so my story and questions: My Symptoms cold feet (even in summer, almost always need to wear socks) – Male, 33 years old. Struggled with anxiety all of my life, Several years ago started being tired all the time. Had my Then she ended up moving so I floundered for a while trying to Last year I started seeing a nurse practicioner that actually Issues these tests revealed: 1) low melatonin I made A LOT of changes in diet and lifestlye (had been in very good Then we found out my Cortisol was way too high in the morning. This was I had been on Lexapro for years which helped the anxiety quite a bit. I would occasionally take Tylenol PM which would take away anxiety at night – Fertility Issues: My wife and I have been trying to have kids for 2 years, I had a sperm My wife mentions this to the nurse practitioner and she says Turns out I am homozygous for MTHFR C677T. By this time we realized I had So, now I am taking Methofolate in the form of “Actifolate” at I believe 5mg The fertility doctor is wanting to do IVF but I feel that I am As you can probably tell, after years of tests (I didn’t include everything |
| April 27, 2012 at 4:17 pm #1998 | |
 Susan |
My Name is Susan. I found out recently about the MTHFR gene mutation after doing my own research into Effexor withdrawal symptoms that my 20 year old daughter has been having trouble with. She wants to wean off this terrible drug, but if she misses one evening dose she has awful symptoms including seizure like leg thrashing in the middle of the night, dizziness, nausea and diarrhea. Here is some history… Our youngest of two daughters was a shy but healthy and happy average kid until 11 or 12 when puberty hit. Her cycle was awful. Her pediatrician put her on the patch for “convenience”. Made her so sick. Like morning sickness. Too much for a 12 year old! Switched her to the pill and her cycle was regulated. She developed depression and the pediatrician put her on Paxil. By 14 she was in a lot of pain all over. Tested for RA and that was negative although she had some degeneration in the lumbar area. Aches and pains all over that felt like the flu. We thought, “no wonder she is depressed?” Off Paxil for a bit but then depression came back and she went on Lexapro. We were a military family and we then got stationed in Fairbanks, Alaska. During the next three years things got worse. She developed IBS, severe fatigue and said she felt like she was an 80 year old woman. The depression also got much worse. She had severe headaches, some migraine and trouble sleeping at night and never felt rested when she did sleep. Was told an x-ray showed a tiny tumor on her pineal gland when she was examined after a slight concussion. Later they said that was a mistake and not to worry about it. Thought a good thing to do for her may be to get her out of the dark and in a “more normal environment” so when she turned 18 she was off to college in the midwest.She loved it. Two months later, immediately after a flight back to school after a visit home she was in the ER. Extreme sweating, four hours of severe diarrhea, shaking and pain. ER diagnosed it as travelers diarrhea and gave IV antibiotics. That was the beginning of a two year nightmare. Two weeks later diarrhea was still terrible. She could barely eat at all. Then an awful sore throat. Had a follow up appointment, the next day for the ER visit so she asked for a rapid strep test (neg.) and a mono test. The doctor said she was probably suffering for some sort of infection ( though test was negative) and put her in another course if antibiotics! Two days later the mono test came back and it was positive. Even though she was told to stop the antibiotic, it was too late, she had an awful rash covering her body caused by the antibiotic given with the mono virus. It was like the chicken pox, making sleep almost impossible. Also the antibiotic made the diarrhea worse. Couldn’t eat or sleep which is what she really needed to heal. Diarrhea continued to be severe for months. Switched doctors and also saw a GI. Had a colonoscopy, endoscopy, hida-scan, four more CTs and abdominal ultrasound. Severe abdominal pain had her in the ER at least four more times. Negative for celiac, gall bladder, pancreatitis, colitis and more. No answers. GI put her on acid blocker and said she might be on it for life. Seemed to help symptoms a little. Eliminated dairy and things improved a little more. Was eventually introduced to a nutritionist by a friend and started working with us on our daughter’s issues. Took her off the acid blocker and put her on enzymes and supplemental stomach acid! Also pharmaceutical grade supplements and probiotics. GI issues started to improve significantly for the first time. IBS symptoms decreased. Diagnosed with leaky gut. Had her biomarkers checked by a holistic chiropractor/nutritionist and it showed low kidney and liver function, dehydration, low electrolytes, poor protein and sugar metabolism, high free radicals and high acidity. She also had a exhausted adrenals and low blood pressure and high heart rate. Added chelated minerals and adrenal support products and the heart rate went down. Some of the joint pain subsided and the fatigue improved a bit. After eight months of supplements and improved diet she is really improved. Had to move into a place where she could cook for herself because the food at the college made her ill over and over. Went off caffine and avoids sugar which really messes her up. Went off the pill for six months and gave her body a rest but cycle became irregular and painful again and has gone back on… Back to present…Had her tested for MTHFR. Thought it might give us some answers and help further improve her health if we found out there were mutations and could treat her with a form of folate her body needs. Thought also,this might also help make it easier to go off the Effexor. Yesterday the doctor’s office called with the results which were positive for 2 mutations. Not sure which ones as they had no idea how to interpret the results to me. They sent the results are in the mail and they should be here today. Her doctor is not at all familiar with this issue. He only had her tested after I explained why I wanted it done. He said it was usually for patients with clotting issues. He was kind and open to the testing after I explained why we wanted it done and gave a family history. Just unfamiliar with MTHFR and uninformed. There is so much for doctors to know and keep up on, but this is a huge problem! He is now like ‘ “have the results interpreted by someone and let me know what you want to do from here”. I feel like the teacher here! I am really overwhelmed. I have a feeling the mutations came from my side. I plan on getting tested ASAP. My mother has fibromyalgia, chronic fatigue, HBP, pulmonary hypertension, hypothyroid disease, Raynauds syndrome and Schleraderma. My sister has hypothyroid, type 2 diabetes and she and my mother both have failing kidneys. I have had severe migraines since I was 22. And recently my thyroid is in trouble. I have a feeling my adrenals are exhausted as well. I have sleep issues, lumbar problems, anxiety and depression. Others on my side have struggled with depression and bipolar. My moms sister is in remission from lymphoma. Doctor said this week I need to reduce my stress level. Lol. Trying to collect information and my thoughts while figuring out the next step; like what exactly to start my daughter on and how much and getting everyone else tested for MTHFR. Don’t know how to share all of this with my parents and sister. Not sure they will be receptive to the information that could help them with their own health! So grateful I found this site last night… |
| April 28, 2012 at 9:50 pm #2003 | |
 Jovan B. |
My name is Jovan. I’m 34 and from Dayton, OH. I won genetic testing last summer and found out I had MTHFR. I didn’t think anything about it until my friend said something about how it affects pregnancies. So I’m grateful I found out about it now rather later when/if I am trying to get pregnant. In October last year, I went to my regular doctor and she took note of it and said I need to tell my ob gyn and to take prenatal vitamins (for extra folate?). Well I go back to my ob gyn this summer so I’ll tell him then. I have not been taking prenatal vitamins because they make me nauseated. But then I read that being folate deficient can cause symptoms including fatigue so I thought maybe I should get something. So I started taking folate today so we’ll see if it helps. I’m just grateful I found out about this now rather than later. |
| May 4, 2012 at 3:37 pm #2054 | |
 Lisa |
After four miscarriages…and I had to beg them to test me..I finally got an OB to test me after my last loss in 2008 which I had at age 40 so they wanted to write it off as just being an age related. Out of 7 pregnancies I had lost more than half of the with two of my miscarriages in my 20′s (both singletons), one in my 30′s (twins) and one at 40 (singleton) so I knew it wasn’t an age issue. (Of my three children I gave birth to one died at 3 months from “SIDS”) Finally some answers, I have a MTHFR C677T single mutation and also FIIHET mutation. Sadly neither my OB or the “specialist” I was sent to for genetic counselling in AZ knew anything about either of these because I was told neither of them really affect my losses or myself for that matter. I have had to just research on my own to try to find anything and what I have found is that they were completely wrong–both can affect a pregnancy. I wish the medical community would take the time to further educate themselves on issues like these. Thank you for this site! |
| May 5, 2012 at 4:20 am #2062 | |
 Joanne |
Hi, my name is Joanne, I am 54 years old and I live in Redmond, Wa with my husband and three children. I was diagnosed with homozygous C677T yesterday by Dr. Paul S. Anderson of Anderson Medical Speciality Associates in Seattle, WA. I felt overjoyed at finding out this news!!! It explains so much of what has happened my entire life, it\’s such a relief and I\’m looking forward to working with Dr. Anderson to feel better. I was fortunate enough to be given the address for this website by Dr. Anderson yesterday and tune in today to listen to the live Podcast this morning on BLOGTALKRADIO.COM by Starlene Stewart. Dr. Benjamin Lynch, founder of this awesome website, was discussing \”MTHFR the Genetic Mutation\”. It was my first introduction to this subject and I found it fascinating. My persoanl health history goes back to birth, I was placenta previa and born 6 weeks premature. I regurgetated from the day I was born, my mother never dressed me until we got to our destination as she said it was pointless, I spat up on everything! I was hospitalized for double pneumonia for my 5th birthday. I developed GERD in my early teens, reflux was very painful, but nothing was done about it except to tell me not to eat fatty foods, so I lived with it. Fast forward to the birth of my three children in my 30\’s. I have to laugh now when I think of how many years I spent on the pill… now that I\’ve read it wasn\’t such a good idea. My eldest son is 21, I got pregnant easily and carried that pregnancy well to term. He has been healthy so far except for a bout of mono in his freshman year at college. I suspect he may have some learning difficulties, but never had him tested as I had no idea where to do so and they didn\’t really concern me. I had a very difficut time conceiving our second child, I always had very irregular menstral cycles and was feeling a great deal of stress from my job. I was a behavior therapist and consultant for children with autism for 15 years, ironically, as when I finally did give birth to him, he was born with Down syndrome, a ventricular septal defect (heart)and floppy heart valves (which repaired themselves without intervention). Eight years later, he was diagnosed with autism at my instigation, I had no idea there was such a thing as a dual diagnosis… He also has Developmental Apraxia of Speech. He is now 17 years old. That pregnancy was more difficult, I had low amneotic fluid and the height of my fundus was low, I had trouble gaining weight – not a problem with my first pregnancy! I did not chose to have any testing done on my pregnancy\’s other than ultrasounds, so we dealt with his disability when he was born. Our third child, now a 15 year old daughter, was also an easy conception and pregnancy, but again, I had trouble with weight gain. She has had trouble with math and we have had her at a math tutor for a number of years. The tutor finally counseled us to have her tested at a Neuropsychologist and we just received the test results back recently. I\’m still reeling. She was diagnosed with Generalized Anxiety Disorder, Attention Deficit Disorder (with hyperactivity), Arithmatic Disorder, and Learning Disability Not Otherwise Specified (issues with reduced speed of information processing, functional study skills). I have the paperwork to have all my children tested for this MTHFR mutation asasp. Back to my health issues! About 12 years ago, I started to have pain in my stomach/bowl region and after a colonoscopy and endoscopy, was pronounced to have IBS – the catch all phrase for, your problem…. The endoscopy showed major scaring of my eosophagus and the Dr thought I might have Barret\’s esophagus, a precancerous throat condition, thankfully I did not, but it came as no surprise after all the reflux I had had. I was put on an antispasmotic which was helpful for the pain, but had to stop taking as I realized it impaired my ability to drive – not a choice with three young children! So, for the past 12 years, I have just lived with it, standing helped to relieve the pain, so I developed a lifestyle around not sitting down, something I could fortuntely do as a homemaker. Next, I was made aware that my cholesterol numbers were too high – it finally took giving in to medication to find out two of my family members have high cholesterol, but choose not to address it. My arteries were also diagnosed as being 67 years old before the medication – very frightening. Next came acute visual problems that ended up in 8 eye surgeries. I developed a \”macular pucker\” in my right eye, normally does not appear until your 70\’s – I was barely 50. It produced a cataract almost immediately, which was expected, although not that soon. When I went in for the post operative check the day after the cataract surgery – the Dr found my other eye had developed a cataract severe enough to be removed 4 days later. Then, I had secondary cataracts removed three months before he could do LASIK surgery to correct the astygmatism. Two months ago I started to lose the vision in my right eye again and the Dr was able to do LASIK surgery on that eye again. I have felt depression and anxiety over the years, but chalked it up to the stress of my child\’s disability. I finally broke down and went to see a cousellor for three years, which helped to a certain extent, but finally I had such an acute anxiety attack in the fall of 2011 that lasted for 7 weeks, I decided it was time to see a psychiatrist. My youngest brother had tried to commit suicide in December of 2010 and had successfully dealt with this episode with good medical treatment and a correct dose of the appropriate medication. In talking to my psychiatrist, she tried me on the same medication, although it wouldn\’t have been her first choice, because it worked so well for my brother. It was a major breakthrough in my life. The anxiety left me almost immedialtely after years of worsening symptoms, I couldn\’t believe it! Unfortunately, the anxiety attack was so severe, I gave myself acute esophagitis and gastritis and was put on an acid blocker. About two weeks ago, I had very sudden severe bowl spasms – felt like I was in labor, accompanied by worsening diarrhea. I called my GI\’s office and he told me to go on a BRATT diet for 4 days (bananas, rice, applesause, tea and toast), then when I went in to see him, all he cared about was the fact that the spasms had subsided. He put me on a liquid diet for the next two days and then told me to reintroduce food and figure out which foods were bothering me, as that\’s what IBS is all about – I was in shock. He also accused me of abusing Ibuprophen as the cause of my gastritis. I could not seem to get through to him that I take only the odd one for an occasional headache and that I had had a very major anxiety attack. He reluctantly agreed to prescribe an antianxiety and antispasmotic for me and then proceeded to tell me to talk to my psychiatrist if I wanted another prescription, it was not his domain…. Fortunately, it stopped the pain I had been having, what a relief. In the meantime, I had talked to another friend who was having stomach issues as well and had told me about how Dr. Anderson had helped her. I had been in to talk to him before this whole episode happened and he had ordered many blood tests. I am happy to say these were the results I received yesterday, and my life has been significantly altered in one day!!!! I will never see that GI Dr again, I am very disillusioned with him. I am very, very happy to have met Dr. Anderson! Dr. Anderson gave me a list of foods to remove from my diet for the next 12 weeks, I feel better already. Then, he added 2tsp of Glutamine mixed with 1 VSL#3 Capsule (probiotic) opened and all mixed in applesause to be taken before breakfast and dinner. Then, 5 MTHF 5 mg pill 1/day, Quercetone 2/day and Methyl-Guard Plus 3/day. In closing, if you have managed to read this far – I strongly recommend anyone who has had unresolved gut issues be tested for MTHFR and other food sensitivities. I am so excited to be starting on this journey of healing – finally…. |
| May 17, 2012 at 2:27 am #2179 | |
 Kelly |
Today, 5/14/2012, will always be a memorable day for me because it is the day I received confirmation that I am heterozygous for the MTHFR gene mutation, A1298C. It’s really not a surprise. In fact, I would have been more surprised had it come back completely normal. I am a 52 y.o. wife who has been married for 20 years and the mother of two teens, male 18 y.o. and female 17 y.o. We reside in Yorktown, Indiana. Although I have fought depression several times, the last three years have literally been a battle for my life. I can pinpoint the exact time that this episode of depression began. It resulted immediately following ACDF(5-7) surgery. Knowing that I was going to be virtually homebound for a few weeks, I purchased about ten books to read, as I was an avid reader. Three days later when I came home I knew something was already wrong. I was having 15 “hot flashes” a night. (I had been over them for several years after my total hysterectomy and coming off ERT.) Along with the hot flashes came terrible insomnia. Eventually it culminated in absolutely no energy, nor desire, to even get out of bed. My bed became my safe “cave.” The depression was unrelenting. The insomnia, pure torture, and the hot flashes, hell. I asked the neurosurgeon, my OB-Gyn, and my internal medicine primary care physician for help in treating the cause(s) for these symptoms. My PCP immediately put me on Prozac 20 mg a day and Xanax .05 (x 2) at bedtime. He also sent me to a psychologist. My OB-Gyn started me on the lowest dose of a Vivelle-dot transdermal estrogen patch (.025, I think.) It took what seems like 2 – 3 months before the hot flashes began to let up. The depression, however, continued unabated. A friend referred me to Dr. Angela LaSalle, Parkview Physicians Group, Integrative Medicine, 11141 Parkview Plaza Dr., #210, Ft. Wayne, IN 46845. She ran a boatload of laboratory tests. The following were laboratory tests that came back abnormal. Those that were indicated abnormally high: Total Chol., Triglycerides, LDL, TPO Ab, Plasma Homocysteine, Zinc RBC, and Serum Ferritin. Those abnormally low: UIBC; Vit. D, 25-Hydroxy. She also ordered a PCR test for DQ2 and DQ8. I tested positive for (DQA1 0501/0505, DQB1 02XX). Per Lab Corp “Greater than 95% of celiac patients are positive for either DQ2 or DQ8 (Sollid and Thorsby, 1993, Gastroenterology 105:910-922). However these antigens may also be present in patients who do not have Celiac disease.” In the meantime, I was also sent to a Psychiatrist that upped the Prozac to 60 mg daily. Dr. LaSalle initially started me on 7.5 mg daily of Deplin. Within 2 – 3 days I could tell a difference. However, the depression still persisted, but not quite so heavy. She later upped the dosage to 15 mg daily and that also gave me even more instant relief. My depression seemed to go away for a while, but then I didn’t take it for about 5 weeks, (Compounded reasons for this) and, I found myself dealing with strong suicidal ideation again. Once again I am on the 15 mg daily dose of Deplin and although I am still having periodic episodes of the suicidal ideation they are becoming fewer and farther apart. The complete lack of energy that resulted in me being in bed for upwards of sixteen hours a day has improved as Dr. LaSalle tested my Salivary Cortisol levels over a 24 hr. time span. A normal curve plotted over 24 hrs should show a diurnal variation with the highest level of Cortisol occurring in the morning and the lowest (about ½ of the a.m. level) in the afternoon. My curve was completely flat. She started me on a supplement called AdrenAll. It caused me some rather unpleasant GI issues and eventually she tested the Salivary Cortisol levels again. Although somewhat higher they were still low. At this point she put me on Cortef 5 mg at 8 am and 2.5 mg at I will be talking to Dr. LaSalle about getting my children tested for the MTHFR mutation. I do have concern as to what degree this mutation has had particularly on my mother’s side. My maternal grandfather had pernicious anemia and died from stomach cancer, my maternal grandmother had hypothyroidism, type 2 diabetes, glaucoma, skin cancer, obesity, and died from a gangrenous gallbladder. I have three uncles that also have type 2 diabetes, and one that had thyroid cancer, one with hyperthyroidism, and another with hypothyroid disease. (My grandma’s sister, my great-aunt and her daughter, my great-cousin, also had hypothyroidism.) My mother has Sjogren’s Syndrome and Reynaud’s disease. She also has severe issues with her GI tract and has had at least two episodes of ITP. Thank-you doctor Ben for setting up this website and for giving so much of your time and energy to ensuring that we are able to have the latest and most complete information available about the effects, identification, ramifications, and treatment options for the MTHFR mutations. |
