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  • Parent of a child with congenital adrenal hyperplasia

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    Old 07-10-2018, 11:12 AM   #1
    Yellowman442
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    Parent of a child with congenital adrenal hyperplasia

    I have some questions regarding carriers of the gene.
    First what are individuals with this gene called?
    Can carriers of this gene be adversely affected by this?
    I bring this up because, all of my life (I am 51 ) I have suffered from muscle cramps. I also, at one point was having problems with my heart. (Skipping a beat) I informed myself and then self diagnosed. A common cause of this was a lack of Potassium, magnesium, selenium, and sodium. I began a daily regimen of the above, and my heart hasn't skipped a beat since. Consequently, my muscle cramps stopped. (I have been to a cardiologist who told me Not to self diagnose, but to continue taking the suppliments, my heart was fine) My physicals are always perfect. I am not over weight. Colesteral levels are great. And have been told I have the heart beat of a teenager. I am not in poor shape.
    Recently, I was speaking with my sister and she also has suffered from muscle cramps. Not as severe or as frequently as myself. Also, we both seem to crave salt or salty products.
    My son who has this disorder is on the far side of the spectrum. He is a severe salt waster. I'm starting to lean towards the idea that carriers of the gene can also suffer some effects from the disorder.
    I'm looking for an endocrinologist who might be able to confirm or denie the fact that carriers can also be affected, and if so, what would this condition be called? And what to do about it?
    The doctors I have seen, all tell me that it is not because of the gene. Though they are general practitioners and not endocrinologists.

     
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    Old 07-26-2018, 08:51 PM   #2
    familylady
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    Re: Parent of a child with congenital adrenal hyperplasia

    I don't think a carrier of a gene will have symptoms. A carrier is exactly what it is: a carrier of the DNA. Then when two parents both carrying the gene reproduce the offspring has a very high rate of DNA combining developing the disorder. The real question is whether you are just a carrier or do you have CAH? Generally it is diagnosed by a CT scan of the adrenal glands or labs such as ACTH stimulation test, etc. It can be very challenging getting diagnosed and/or finding a doctor who actually takes CAH serious. I also have congenital adrenal hyperplasia. However, I was not formally diagnosed until I was a young adult even though I had it my entire life. Congenital means you were born with it. My parents were always told that my muscle spasms were growing pains. Then as a young adult docs would tell me that a lot of young women have hormone issues. I was finally diagnosed by an endocrinologist. You will have to see an endocrinologist to get any real answers and that may even be a challenge. Many doc do not take it serious unless you have the salt wasting form of CAH. There are 2 types of CAH.

     
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