Tagged: methylfolate seizures
This topic contains 5 replies, has 1 voice, and was last updated by Stephanie 1 month, 2 weeks ago.
February 19, 2013 at 12:36 am #7258
I am a medically retired female Marine that has homozygous C677T without any A1298C mutation. I have poorly controled simple partial complex partial with secondary generalization. I have video of three of the seizures. I also have mutiple drug allergies mostly antibiotics. I am getting worse as I get older with medical problems. Because my systoms are abnormal a doctor said I have Munchausen Syndrome. I know that is not true because I have never done anything to harm myself. I want to get better and live a “normal” life. I want out of the wheelchair and able to have my stomach and head stop hurting. Because of doctors lack of knowledge on MTHFR mutation as caused me more trauma than any one person needs. I already lost my father to congestive heart failure, diabetes, and many other help problems.
I just want my life back
RubyLeeJuly 3, 2013 at 4:59 am #376544
You are not alone friend. Sadly, there are some doctors (not all) that have a hard time comprehending something that they have not yet learned. Educating these docs with quantitative evidence may help, or perhaps they might have to learn “the hard way”, by acquiring the illness themselves. I’ve run into a few docs like this over the years. Sometimes moving onto a doc that understands you is the best thing. Relationships with docs are like relationships with a spouse…”It’s not you, it’s me.”. There have been times I walked away, and was put in the path of a better doc, because I was willing to move on.
I have had idiopathic epilepsy for 35.6 yrs. I have had the gambit of types. Epilepsy is commonly found in all girls, except 1 (darn that recessive!) on my father’s side. My younger cousin outdid me….she has autism (severe) and severe epilepsy, like the kind I had, but even worse. I have Sjogren’s syndrome, had 2 TIAs 4 years apart, ESR of 71 (three years ago it was 36), Rheumatoid factor of 11, anemia (unknown determination), MCV of 98-99 before beginning Cellcept (3 weeks ago it went down to 92),hyperhomocystinemia, high CRP, IgA of 752, acquired lymphedema due to IV cut down of improper dosage of Dilantin at age 10 (was in coma for 2 days), status epilepticus when not controlled, headaches that were brain blowing — they literally stopped you in your tracks in pain, meralgia paresthetica with leg spasms, folic acid deficiency (verified by MMA level), suspected IgA nephropathy (so much that I am followed by a nephrologist), systolic hypertension only, C7 central stenosis which needs surgery, 3 Scmorl nodes in T spine, thyroid peroxidase antibody +, Anti-Ro+, ANA+, but I am only 1:40, speckled, Schirmer test 3 in right eye and 5 in left, COPD, Chronic Bronchitis, frequent pneumonia for 3 years straight. And sometimes I could barely get anyone to take me seriously. Because people look at me and sometimes are like “You don’t look sick!”. You would think that with this many dots to connect they would, but sometimes the blind remain blind. I think there is a chance of C677 and SCN1A being correlated. I have had docs tell me that I need to go to Cleveland Clinic and spend time “with the big boys” because I “know more than some of us do” — and those quotes were by my docs to me.February 25, 2014 at 4:05 pm #380466
There is certainly a lot to learn about this issue.
I love all of the points you have made.September 2, 2014 at 2:52 am #383484
I have FINALLY found someone willing to test me for MTHFR Mutations. I am compound heterozygous — heterozygous positive for A1298C AND C677T. I had to move on a few times, to a few different docs, before this got done.
Finally, I am happy about my docs being on the same page as I.
Sadly, sometimes you have to fight for the care of your health.
Keep at it friends, have hope, and don’t give up.October 24, 2014 at 2:47 pm #383826
I am wondering if you all have been taking methylfolate and what your experience has been with regard to seizures. I too am finding the doctors (even neurologists) know very little about epilepsy other than how to detect it, categorize it and medicate you for it (which is virtually nothing). Nobody seems interested in curing anybody other than naturopathic doctors which so far in my experience are overburdened and undereducated with respect to epilepsy. This is of course because the ‘standard of care’ sends seizure patients to neurologists and naturopaths get far too little exposure.November 2, 2014 at 12:33 am #383863
My son has epilepsy as well as 1298/C677 mutations. He was started on methylfolate by our naturopath, however didn’t react well (seizures returned after being seizure free for 3 months). In my personal experience, I would suggest healthy diet first and foremost (low carb/keto), sleep, exercise and then take a look at your other SNPs before going to MTHFR. I konw you need to heal the gut and then move to sulfurs (remove problem foods) before adding in methylfolate so the body can detox in the correct order. Check out Dr Amy Yasko for a more comprehensive overview. IT is my opinion that most seizures are related to some kind of toxicity…you just need to peel back each layer to find which one it is.