A "brief" background - I won't go into everything, even though this will still be somewhat long! I am female, mid-40s, not yet gone through menopause. For my whole life, I've had some symptoms of slow metabolism, low body temperature, continued constipation, malaise, delayed sleep cycle/extreme night owl, migraines, allergies, low motivation, what-have-you. I've always had painful periods with heavy blood loss. In my early teens, I got mononucleosis. In my early 20s, I got it again (confirmed by blood tests both times). The second time, they said it was weird, because the test showed that I had a bacterial and viral infection at the same time. In my late 20s, I lived in a place with a high incidence of Lyme Disease - I started having some of the typical symptoms, got tested over a 3 month period by the doctor, but the blood tests always came back negative. About 12 years ago, I suddenly felt pretty bad and had a lot of hypothyroid symptoms, so asked my doctor for a thyroid test - the result was TSH 5.8, but the doctor declared that I did not have hypothyroidism and I received no treatment for it. I got tested 3 years ago and TSH was around 4.5; the doctor (a different one) didn't think treatment was warranted even though several official reference ranges had been brought downwards. For all of my 20s and 30s, I frequently had cervical dysplasia on my cervical smear test results and always had to get re-tested once or twice more, to get an all-clear result. In my late 30s, I got shingles, doctor gave me acyclovir. About 4 years ago, I started to have cheilitis (constant lip chapping) non-stop - did everything to try to fix it, eliminate allergens, stop using makeup, etc., and many steps have helped, but nothing has cured it. I do not mean angular cheilitis where the irritation is only at the sides of the mouth - the constant chapping I experience is across the middle 80% of my bottom lip, while the sides of my mouth are fine. A few years ago I started to have tinnitus, especially whenever I'd take ibuprofen. I stopped taking painkillers as much as I could. About 2 years ago, my thumbnails suddenly started being quite deformed as they grew out from the nailbed - I've researched it and there are 2 different names for it, which I momentarily forget. It's likely due to a vitamin deficiency or systemic illness. My big toenails are getting wavy, but not as massively deformed as the thumbnails. I went to the doctor to show her my nails, and asked for some tests. She said the test results were all normal and dismissed me. A month later, I asked the office for a copy of those test results and noticed that my serum ferritin was only 14 so I went back to the doctor and suggested that since my iron was really low that I should be taking supplements - she agreed. I have taken iron supplements for 2 years but it has only slowly increased - at 3 months it was 25, at 6 months it was 50, at 9 months it was back down to 25, etc. Doctor said it must be that my periods were causing me to lose iron, didn't seem concerned at the backsliding of my numbers. My thumbnails have not gotten any better - they are worse. For many years, from my mid-20s until the iron deficient test result, I was "mainly" a vegetarian - I would eat a serving of chicken or turkey about six times a year, and regularly ate cheese and eggs. I did take 1000 mcg of cobalamin B12 (swallowing the pill) per day, throughout those years. When I got the low ferritin test result, I decided I should eat more meat, including red meat, even though I didn't really wish to. Therefore, in the last 2 years, I have eaten about 3 ounces of meat a day, 5 days a week, which isn't a lot, but it's what I can handle. Also 2 years ago, I began to get tendon problems - developed tennis elbow and plantar fasciitis (in the heel) within 3 months of each other AND this is without playing any sports or doing repititous actions. I asked the doctor and physiotherapist if the two things were linked, and was told that they were not. I told them it felt like my body was suddenly aging quickly. It took 6 months for the tennis elbow to resolve and 9 months (of sleeping in a boot) for the plantar fasciitis to resolve. In the last 4 weeks, my hair has begun to fall out from my scalp, much more than normal healthy hair shedding. This is new. I am careful about supplementing and for the past 18 years I have taken a wide array of basic vitamins, minerals, oils, and herbs that are recommended by mainstream doctors who champion supplementation such as Weil, Sahelian, Oz and others. Not only do I have constipation, which has been a "normal" condition for me my whole life, even when I was a baby (typically, I will have a bowel movement maybe once every 3 or 4 days, with occasional interludes of going once every 1 or 2 days), but in the last few months, about once every 2 weeks (so, not every time I "go", maybe every 3rd time), the little poopballs will FLOAT. I looked it up, and floating pieces of poo seem related to poor digestion, poor absorption, lack of bile? Some months ago, I suddenly developed weird vision problems and had a spate of bad migraines (which may or may not have been connected to the vision loss). Up to then, my vision had always been quite good and I've never needed glasses, even though I'm in my mid-40s, which the eye doctor said was unusual. When my impaired vision did not get better, I went to an opthalmologist who ran a lot of tests on me and said he was concerned because I had optic nerve damage in both eyes and either had sudden-onset, early-onset normal tension glaucoma (which is not good because it can lead to blindness by the 60s if the progression is not halted) OR optic neuritis (which is an indicator of later developing multiple sclerosis--for a scary 75% of women in my age group who have optic neuritis). He said he wasn't sure which condition I have, so he wanted to refer me to a neurologist who would refer me to have an MRI (which I was prepared to hear, and happy to arrange, even though I don't have insurance, because I had researched my vision problems online and had realized that I was probably suffering from optic neuritis), BUT first, the eye doctor said he wanted to try glaucoma drops for a few months to see if that would lower my pressure (even though my pressure was already in the normal range). I wasn't happy about the drops he prescribed (which greatly increased my ear tinnitus, cost $126 a month, and they also turn many blue-eyed users' eyes permanently brown which I just felt hesitant about) so I stopped taking them. (I have not yet had an MRI.) I was not happy with the opthalmologist - he didn't listen to me, didn't do any blood tests on me, said that my iron deficiency and many years of vegetarianism could play no part in my vision problems (?), was really patronizing, and was charging me a fortune (far more than his office quoted me before I made the first appointment), so I decided to research my vision symptoms on my own. One of the things that opthalmologist had said in passing to me was that he was torn between the two diagnoses because my eye situation was really unusual, and the only patients of his who had similar situations were two or three long-term drug/alcohol addicts who were in and out of jails and hospitals. He stared right at me and said, "You don't use drugs or a lot of alcohol?" and I said, "Absolutely not!" Of course, after I began to research optic neuritis and normal tension glaucoma, I realized that a form of optic neuritis occurs when people have nutritional deficiences in their diet, especially B12 deficiency, or when they are exposed to toxins -- including drugs and alcohol, as well as cigarette smoke, ethanol, other toxic substances -- and often this subset of optic neuropathies are treated very dismissively in the literature and textbooks, like it's only down-and-out addicts or malnourished, starving people who have this problem. [By the way, in Freddd's long list of B12 deficiency symptoms which appears elsewhere on this site, I would like to ask him to add optic neuritis, and I can give him references to back that up.] My vision has not recovered, which it does in nearly all cases of optic neuritis after a few months --especially the form of optic neuritis which is a precursor to multiple sclerosis-- so maybe it really is fast-onset, early-onset, normal tension glaucoma that I have. Although I do not know much about biology or anatomy etc., I am convinced, after reading hundreds of Pubmed studies on these issues, that normal tension glaucoma and optic neuritis / optic neuropathy are not two entirely distinct things, and normal tension glaucoma is probably not so similar to high-pressure "traditional" glaucoma as its categorization suggests. By the way, the MTHFR gene mutations are statistically-significantly correlated to normal tension glaucoma in some populations. I figured that somehow my low iron and many years of vegetarianism (lack of "real" B12 from meat) probably were contributing to my weird symptoms such as the suddenly-damaged optic nerves, lip cheilitis, nail deformities, fatigue, total lack of motivation or drive, and so on. Looking into it, I found Freddd's writings about B12 deficiency on several other sites, and that led me to discover Phoenix Rising. I read further, and discovered the MTHFR gene mutations, and I had a sense that maybe I had them, so I sent away for a 23andme test. My results show that I'm compound heterozygous for MTHFR. My other 23 and me results: reds ACAT1-02 AA +/+ BHMT 02 TT +/+ BHMT 04 CC +/+ BHMT 08 TT +/+ MAO A TT +/+ VDR Taq AA -/- (Yasko calls it +/+) yellows AHCY rs13043752 AG +/- CBS A360A (C1080T) AG +/- COMT H62H CT +/- COMT V158M AG +/- MTHFR A1298C (E429A) GT +/- MTHFR C677T (A222V) AG +/- MTRR A66G (A919G) AG +/- MTRR A664A AG +/- I am okay on understanding the genetics part of it (double helix, homo- and heterozygosity, alleles and stuff), but I don't really know what all that means in practice inside my body, because I do not know much about biology. I have found videos, diagrams, etc. about the methylation system, but it still is like a foreign language to me. I am currently unemployed and do not have health insurance, so I need to treat myself as much as I can, with supplements, nutrition, and any behavioral actions that might help. I decided to do some blood/urine tests after I got my 23andme results back. Unfortunately I can't do the $900+ tests. I scoured this and other forums for advice given to other people, and compiled a list of the most important tests in my situation that would give the most bang for the buck. I stopped taking all supplements for the 8 weeks prior to having these tests. These are the ones I got: Celiac disease autoantibodies including Tissue Transglutaminase (tTG), IgA Complete blood count with differential - CBC Comprehensive metabolic profile/panel - CMP DHEA-S (sulphate) Antinuclear antibody - ANA C-Reactive Protein - CRP Erythrocyte sedimentation rate - ESR Ferritin Iron - % saturation Serum Iron TIBC/UIBC Lipid panel (total cholesterol, LDL, HDL and triglyceride) Free T4 Reverse T3 T3 uptake Thyroid Antibodies: TPO Thyroid peroxidase antibody, Thyroglobulin antibody Total T3 TSH Urinalysis B12 serum D3 (25-hydroxy) Folate serum Homocysteine Methylmalonic acid - MMA I have the results back, and they are surprising to me. I am not sure what they mean. Below, I will only list the ones that were out of range, or especially important to me to check on. ------ Iron: Serum Ferritin: 53 (reference range: 15-150). This is higher than it's been in the past couple of years, so I am glad about it. I know that most people say you should aim for 75 at least. Serum Iron: 159 HIGH (reference range: 35-155) Should I worry about this? What does it mean? ------ Thyroid: TSH: 3.2 (reference range 0.450-4.500). As I wrote above, 12 years ago it was 5.8, 3 years ago it was 4.5, and now it is 3.2, without any thyroid treatment. I feel pleased about that improvement, but I know that some people would say that it is still too high and indicates hypothyroidism, especially when other symptoms are present. Reverse T3: 26.3 HIGH (reference range 9.2-24.1) What does this indicate? Does it indicate I really do have hypothyroidism, kind of through a back door? Or does it show adrenal problems? T3/RT3 ratio: 3.5 (apparently it should be higher than 10?) ------ LDL Cholesterol: 111 HIGH (reference range 0-99) ------ Vitamin D 25-Hydroxy: 20.4 LOW (reference range 30-100) Deficient by Endocrine Society practice guidelines ------ Serum Vitamin B12: 931 (reference range 211-946) Is this quite high, even though in range? The other tests for B12 deficiency, like homocysteine and methymalonic acid, came back normal. I was really surprised. Does this mean that a B12 deficiency would not have been the cause of my optic neuropathy? ------ DHEA-sulfate: 24.8 LOW (reference range 35.4-256) Does this mean I have adrenal trouble? ------ Cancer Antigen CA-125: 314.9 HIGH (reference range 0.0-34) WHAT?? I did not order this test specifically, but it came as part of a test panel that I ordered for other reasons. I really wasn't thinking along the lines of testing for cancer, at this point in time. I have now researched this test tonight, and I see that it has a high rate of false positives and false negatives, especially for women who are still menstruating. It also might indicate something other than ovarian cancer - it might show other forms of cancer, or hepatitis, pancreatitis, endometriosis, benign tumors, etc. One trustworthy reference site said something about how if the CA-125 score is over 200, then it's really high, and should be checked out immediately by a gynecologist. Does anyone know if a score over 200 definitely indicates an urgent situation for a still-menstruating woman who does not feel that she can detect an abdominal mass? Would a result this high indicate that something has definitely gone wrong? Are there any other tests I should get myself? ------ Should I get some other blood/urine tests as a matter of urgency? And for what --- cortisol? If so, which cortisol test is best? I was really excited to start taking new supplements for methylation purposes (like methylfolate), now that I know that I am compound heterozygous for MTHFR -- and I still hope that I can heal parts of my damaged optic nerves and recover some of my vision once I can get some "real" B12 into my system, but I don't know now if I should still refrain from all supplements so I can get other blood tests done in the next couple of days. ------ I don't have a doctor, don't know of any "good" ones in my area. What sort of doctor would be best to go to first? A GP, or direct to a gynecologist, or? Would it be too roundabout to first consult with some kind of integrative doctor who would have the ability to bear in mind all my other test results (even, if possible, the genetic mutations - though that is probably too much to ask)? If that would be a good step, what type of doctor is this - osteopath, naturopath, I really don't know what they are called. ----- Any thoughts or advice would be greatly appreciated.