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This topic contains 2 replies, has 1 voice, and was last updated by Siobhan 1 month, 3 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.