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    Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.

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Search results

  1. M

    A rare deficiency cfs/fm patients should consider

    As I said, I discovered my hetero for S113L through your rare SNP's software. Because it did not report back pathology in your software, I did not catch it. What made me invest it yesterday was that it reported a frequency of 1 percent (this was a 10% report). Further investigation on this gene...
  2. M

    A rare deficiency cfs/fm patients should consider

    @Sea, what came out of your personal investigation regarding CTP2 deficiency? And are you heterozygous for S113L only? I asume that will require you to perform some exercise before some bloodwork to be done? Just curious how I should present this for my personal doctor...
  3. M

    A rare deficiency cfs/fm patients should consider

    I find a lot of research proposing for clinical possibility of symptoms with hetero (not compound) for S103R. "CPT II deficiency may manifest clinically even in a person heterozygous for the S113L mutation" found in research: http://www.nature.com/labinvest/journal/v83/n11/full/3780745a.html...
  4. M

    A rare deficiency cfs/fm patients should consider

    Here is a link that propose that heterozygous for CPT2 S113L and R503C may render individuals with symptoms. https://www.ncbi.nlm.nih.gov/pubmed/10090476 I am hetero for rs74315294 (S113L), have ME/CFS and have all the symptoms in the article. @Valentijn , this snp is showing in your rare...
  5. M

    Low Dose Naltrexone Question: NK Cells and CD8

    Here is a good one I think. http://www.ncbi.nlm.nih.gov/pubmed/24455776
  6. M

    Fluge, Mella, and Haukeland University Hospital in the news

    Very quiet about this studie now. Any news anybody?
  7. M

    Interesting MTHFR Variations

    Well, just got back my result from official health care center that confirmed it for me. I asked my geneticist there and he also said that compound are more common than recombined variants. To develope recombined variants to be more common than the original compound variant is also almost...
  8. M

    Interesting MTHFR Variations

    @Valentijn Have studied my MTHFR gene again and find that I have 4 homozygous SNP's of your "very rare" list. One of them are pathogenic (MTHFR rs45590836 M581I - 23andme = C:C). Else I have totally 7 homozygous SNP's in MTHFR. Here is rest of my very rare homozygous list, I asume the rarity...
  9. M

    Compound Heterozygous C677T & A1298C

    It might be this documentation... http://www.nature.com/ejhg/journal/v10/n10/full/5200863a.html If you read last part of bold text you see why recombined variants are rarer than combined ones. Its nothing that has to be documented, it is math. Thats why they write it like that. Its how...
  10. M

    Compound Heterozygous C677T & A1298C

    Finaly I found a reasearch that suggests that compound is more common than not compound for having 677 and 1298 SNPs. "Most studies have reported no or few cases with 677T and 1298C alleles in the cis configuration. 43,48,51,52 It is likely that these mutations arose independently on different...
  11. M

    Compound Heterozygous C677T & A1298C

    I can see that the statements not are done with evidences. Her is another female student/genticist from Standford University who "claims" how odds are greater of beeing compound than not if your got both SNP's 677 and 1298. In this case the student/geneticist writes "The bottom line is that you...
  12. M

    Compound Heterozygous C677T & A1298C

    Just to clearify this for everybody, I read somewhere that there is a greater odds of beeing compound heterozygous for C677T and A1298C than not beeing it. It has to do with something that these two poly's came from two different persons back in time. Can someone confirm that this is true or...
  13. M

    Anyone here with homozygeous GAD1 genes?

    It MAY or MAY not, would be a better (polite) answer to that. Research does not say anything of the burden on the gene if there is more than one (in this case 9) mutation in it. If there is evidence for that, I want to know. I know there is for some rare "deseases", but not for every...
  14. M

    Recipe for NAD (and ATP)

    I think the main problem with supplementing a "problem" is that many people overdoing it. If we think logical, we can not take more supplements than what would be normal for the daily intake - from what you would get from food that day. More than that will be toxic or disturbing the...
  15. M

    Interesting MTHFR Variations

    Lets hope so! ;)
  16. M

    Interesting MTHFR Variations

    Hi @Valentijn ! So, I got this MTHFR "rs35737219...T653M...A?...very rare" mutatin poping up in your Genes Analysis Software! Thanks by the way!! For the software I mean, not for giving me rare genes. :D I also got MTHFR C677T and A1289C hetero. Unknown if its compound or not, or if that is...
  17. M

    intro and genetic testing 8-2015

    @ppodhajski! Thank you SO much for all your research and work. I think you are into something really interesting! I have a lot of your SNPs, and I feel very alike what you describe. All my life has been a real strugle, and it had to end with ME/CFS at last. Have had that diagnosed for 6 years...