Can't get a definitive diagnosis

I don't live near the Mayo Clinic either, I fly in and spend time there as directed. Please request an appointment and have a full workup done to determine your diagnosis. I've had genetic tests done too, I have an autoimmune disease, and genetic tests don't really cut the mustard for diagnosing autoimmune disease. There are 90+ different autoimmune disease, and environment and lifestyle play an important part of the equation.

@linda2114 Hi, migizi. Her question to me: "Since you suggested these sites, have you used them and what value have you found from them, if you did utilize one of the sites? Thanks for your help, if this is possible." Answer: Yes, I have used several of them. I have log-ins for: (1) Ambrygen.com [Great and inexpensive-place to start. Quick turnaround for either of their two special packages, with very accurate statements in their response.] (2) AncestryDNA[well done for ancestry work and basic genetics-but not certified clinical grade ] (3) Sequencing.com (well rounded, and great simple apps to start with. Several choices of plans and services. I like the Genome Explorer app for its ability to sort and lead. Also, the Genome Overview produces massive amounts of pertinent info for highly detailed work.) (4) Human Phenotype Ontology (hpo.jax.org) from Jackson Labs tells you what gene or protein of other marker, and what it does to your body, mind and spirit if the subject gene, etc., is active. Excellent way to get at the truth. (5) http://www.omim.org- Online Mendelian Inheritance M......) I use it almost every day. You list a gene, sign, symptom, protein, etc., and it gives much info about that and about other markers. (6) ENSEMBL.org, Rather technical description, but very accurate. (7) Wikipedia, enter a gene, etc., and usually you will get comprehensive overview of its action. I have used all of these, and depending on what I am searching for, I usually start with the Genome Explorer from Sequencing.com, then OMIM.org, then HPO, etc. I started with Ambrygen.com. There is also Apollo (not used yet). NBCI (NIH, etc.) as a wonderful federal gov service. Many universities have great services. Harvard, Columbia, U of Washington, etc. I hope this helps you and others who face the frustrations of inaccurate or non-existent diagnoses. My guess is that fewer than 10% of American physicians know the meaning of the word "benign" in genetic work. (it means that this gene is unlikely to mutate into something else. It does NOT mean it can or will do no harm.) I have seen about 15 MDs in the last 2 years, and asked them the same question. Only one, a geneticist, knew the correct answer. All the rest answered "it can or will do no harm". Have fun, and get to know these sites well, as they can change your life. And for most of them, about $500 should max out your genetic analysis needs for life. Many are free or incredibly inexpensive, such as Ambry, HPO, ENSEMBL, OMIM, Selah!

@Miigizii, Yes, Sequencing.com would be a great place. Just contact them. If you agree you want the whole genome analysis, tell them to start the process. You put the cost on your credit or debit card, they do not charge the card until they get the sample kit back from you. They send you the kit, you swab your mouth following the instructions carefully. Then wait, but in the meantime you can study up on their work, and write down all the various diagnoses you have had in your life, just to begin putting it all together in your mind. And think carefully, as well, about your blood kin, and what diagnoses of theirs you remember. The testing analysis takes time to process, but I don't know how much now. And you can begin to study the various ways Sequencing.com will provide you with answers. The best place to start is with the apps they provide. If you have chosen the whole genome process, all their apps are available, with answers as soon as the analysis is done. If you have chosen the limited version, and keep paying about $12 per month after the initial $69 cost, you get about 1% of the genome, and 2 apps plus unlimited use of the Genome Explorer software of that %1 analysis. Do the whole genome, with a lifetime use of all their apps and the whole genome process. But enjoy the search, your new hobby.

@oldkarl, thank you so much! Now, I have to just do it! I always start wavering as I think about how genetic testing can impact a person….but I need to get answers.

@migizii I understand well. Some of my own family is afraid of knowing about their own body, mind and spirit. At least that is why they do not get themselves analyzed. And they certainly don't give a D about my issues. I suspect they think they might have the fathers and mothers they think they have. Oh, well. Everyone has the most basic right, that of celebrating their own naivete.

Perhaps a short lesson in basic biology and genes!

@athenalee , The most serious problem I and probably most others with DNA issues, is that the folks we should be able to count on just wish to remain uneducated. I have tried many ways to get my so-called support group involved in this, but they simply refuse. The blockade is very strong. I will be long dead before any of them realizes what happened. Since several of my AI diseases have expected life spans of less than two years since the first noticed symptoms and signs show up, this should not take very long.

I completely understand and I apologize as I did not mean for my comment to sound insensitive to the issue. When I was first diagnosed with PBC I told my sister she should be checked as it can affect siblings; she ignored me. I gave up on family relations a long time ago and when I was in end stage liver disease (pretransplant) and needed support, I did fine my true friends and those who were not.

I wish you the best on your journey to find a solution and the support you deserve.

@athenalee As long as I live I shall never expect anyone to apologize to me for anything. So many things have gone bad in my life that I just figure I must have done something to deserve whatever went wrong. I list a few: 1) My doc, at my birth said I would live less than three years. 2) I was just clumsy and weak until I was teenager. 3) I have genes which are anti-psychomeds and behavior negative modifiers, so until I knew this I filled up on every psychomed the doc prescribed. Terrible! 4) As an 8th grader I could multiple 4-digit # times 4-digit in about 20 seconds, all in my head. As a high school senior I was lucky to get 2x2=? properly. 5. at 18 I could throw an 80 pound bale of hay completely over a fully loaded semi.I played, coached and officiated football until 50. At 45 I ran several half-marathons. At 50 I back-packed through central Idaho, then officiated my last football game. At 60 I could barely walk. Now at 81 I can walk only with a care or my walker. 5) I have written several books now sold in bookstores. But now I have difficulty reading, not just seeing words but understanding them. 6) My brain and nerves have been attacked by various diseases, including my cerebrum, areas 24 and 9, and my spinal cord,. No, in all this I know I have disappointed many people, including my family. I am lucky to still have a family, I guess. The one thing I will not apologize for is my attempts to make others know why I am what I am. Disease-ridden, mistake-prone, afraid to try new things, in pain all the time, and frustrated with my abilities. Anyway, that's me old karl