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Congenital Adrenal Hyperplasia Carrier

Discussion in 'Adrenal Dysfunction' started by bertiedog, Jan 6, 2018.

  1. bertiedog

    bertiedog Senior Member

    South East England, UK
    I reran my Promethease report yesterday and I am amazed to find out that I am a carrier for the severe, salt-wasting form of CAH (re7755898 CT). It would look like that after 16 years of starting treatment for my adrenals and thyroid I now know why.

    Really I should have had treatment a long time before 2002 because I had severe symptoms at least from 1994 onwards. Things like very low bp, blackness, severe vertigo attacks that would last for hours and severe migraines but my GP didn't pick it up at all and in fact when I did eventually get referred to an Endo at my local hospital they said I didn't need any treatment for my thyroid. In fact I needed full replacement meds.

    In October 2002 if it hadn't been for a huge stroke of luck in that I heard of a private doctor from London (who turned out to be a qualified Endo) and who charged reasonable fees I would never have had any treatment for this life threatening condition. He ordered a private saliva/cortisol/DHEA test and also blood tests for my thyroid. He explained that the results showed a messed up steroid pathway. The pituitary was asking for more cortisol but because the adrenals couldn't produce anymore for whatever reason I had very high levels of DHEA instead at all 4 points of the day and night. Also every test I have done for progesterone shows high levels and this is also typical of CAH.

    I think you get the same symptoms as Addisons but think you are less likely to get the crises which is my experience. I have had 2 but that was when I was off the steroid for a short time in 2005 and it was such a terrifying experience that I knew I would have to be on steroids for the rest of my life.

    In the summer or in any hot place I start to sweat, get a high heart rate and I have known for a long time that I loose salt. I was always aware that I could taste salt on my wrists and have needed low doses of Fludrocortisone from time to time to help me to feel better and stop feeling ill.

    So you can imagine how I now feel finding out that I am a carrier for this hereditary illness which can cause all the symptoms I have experienced for such a long time and from which I had no help from our NHS.

    Never give up!

    echobravo and Learner1 like this.
  2. alicec

    alicec Senior Member

    The SNP is unlikely to be the reason for your problems.

    First it is probably a miscall by 23andme - see this SNPedia entry.

    But even if it is correct, being a carrier is not the same as having the disease, which is an autosomal recessive condition. Two copies of the defective gene are necessary for the disease to occur.

    One good gene copy provides sufficient enzyme function.
  3. aquariusgirl

    aquariusgirl Senior Member

    Yeah Promethease said my mom has this too. Which 23andme chip has got a miscall? Sigh

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