Carrier of Addisons diease
Hi my name is Shinae I’m a carrier of addisons diease just would like to know what does this mean do I have the addisons diease or just the gene
Please who why and where you were diagnosed? Addison has a link with another disorder. Why were you not given answers and treatment
My mum is a carrier of addisons diease back in her days they couldn’t tell her if her baby was affected or not only the gender my brothers have addisons diease I was born with a normal chromosome and missing a piece of my other chromosome my x linked.
Do you want to answer the questions above or am I being too pushy?
I had to get tests done through royal Brisbane hospital
With Professor Wales
I have no idea I just wanted to know if I’m a carrier does that mean I have the disease
I’ve never heard of someone being a carrier of Addison’s Disease. Are you a carrier of ALD? Addison’s is linked to ALD, but you don’t have to have or be a carrier of ALD, as it’s an autoimmune disease. Some people get the disease as a knock on effect of other illnesses. Also, if you have been diagnosed with Addison’s disease then you should be taking steroids. You need to question all this with your Dr, as it sounds like you didn’t get an explanation.
X linked one normal one changed one that’s makes me a carrier of the addisons diease it runs on my mums side of the family.
If you’ve got ALD in the family but you haven’t got the gene, then there is no reason why you should have Addison’s disease, unless you’ve been diagnosed with it in its own right. I’ve never heard of a carrier of Addison’s disease. I think you need to see another Dr, or get a full explanation of your Doctors diagnosis. It doesn’t make sense what you’ve been told.
I’m a carrier of a deletion on my X chromosome
It is not making sense Do you want to talk to me on the phone? I didn’t want to spell out some possible thoughts as the facts are not been given to you I suggest
Hi Shinae, I hope I can help a little bit. First, It seems that English may not be your first language and that makes it harder on both sides. I will do my best.
As you probably know, Addisons Disease affects the adrenal glands and can be dangerous or even fatal if not treated, so I think that is why you received some urgent-sounding answers. Please don’t panic. It also sounds like your family or doctors didn’t explain whether, in your family’s case, the Addisons was the primary disease or if it was part of another genetic disorder called ALD (adtenoleukodystrophy) or (AMN-an adult version).
This group is related to ALD/AMN specifically and includes people who do have Addisons as it can be a phenotype (certain type of ALD) on its own or along with one of the other types of ALD. If your family’s Addisons is related to ALD, you are less likely to have problems with your adrenal glands than a boy/man would but you could still have other symptoms and signs of AMN as you get older. You could also pass it down in any of its (often severe) forms to any sons or in AMN form to daughters. It is passed down on the affected X chromosomeand involves the ABCD1 gene.
Now, there IS another X-linked Addisons Disease disorder that isn’t common but has been reported (I checked it out on the NIH and other medical websites). It is a form of Familial Addisons and it is a recessive X-linked Disease and affects only boys. They believe it may be a milder form of congenital adrenal hypoplasia (where the adrenal glands do not form correctly). In that case you would not be at risk of actually having Addisons yourself unless both your mother and father had an affected X (but then you’d already have symptoms and be treated from infancy or childhood most likely) but in any can you could pass the gene down to a son who could be affected.
That familial x-linked Addisons is different and unrelated to ALD or AMN so I think it is VERY Important to find out which you carry because it can greatly impact your future and future children.
Ok, so that’s the background and why there is confusion here.
Now, do you know if your brothers had any other symptoms or just Addisons? Did your mother have any symptoms or problems herself? Have there be other boys in the family who have been sick or died from it? Did your doctor mention which gene on the X chromosome that was affected? (ALD affects the ABCD1 gene. I am not sure what the second disease affects on the X).
I hope that helps a little. Once you know what condition you are dealing with, you’d be able to find more answers in the right place.
Thanks for taking the time and care to write out this thoughtful response, tieaknot. I hope the original post author finds it helpful!
Yes, tieaknot, a very helpful and thoughtful reply, thanks a lot.
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