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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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    Genetic testing at tertiary medical center

    Thanks, RYO. My enzyme test results came back and confirmed I have CPT 2 deficiency. Geneticist believes there is second mutation they haven't uncovered. However, I am in cpt2 support groups and am struggling to find others with adult onset cpt2 who are as severely impacted on a daily basis as...
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    Genetic testing at tertiary medical center

    RYO - it took 9 months for me to get the results from NC Genes study. Where did you get muscle ultrasound? Interestingly, NC Genes did not scan for any immune mutations although my "immune" profile has all been relatively normal. I may follow up with them on this, and am still considering...
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    Genetic testing at tertiary medical center

    There is a clinical study being done by NIH through UNC on whole exome sequencing called "NC Genes" . The testing is free. I was able to get into the study via a referral from my neuromuscular doctor. However, they will only sequence genes in your "problem" area (ie neuromuscular/mitochondrial...
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    A rare deficiency cfs/fm patients should consider

    Valentijn -Thank you for your feedback. Yes - they could not definitively say I have cpt2 deficiency due to single mutation. However, The geneticist who found the mutation explained it's possible that I do have cpt2 deficiency as they simply don't know enough about affects of single mutation, at...
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    A rare deficiency cfs/fm patients should consider

    I have had had CFS symptoms for 3 years. I am 48 years old. Prior to becoming symptomatic I was a distance runner racing competitively at local level until age 45. Recently it was discovered I was heterozygous for cpt2 c.338c>T [p.Ser113Leu] mutation. I too wonder about how many individuals...