Alpha 1 Antitrypsin.

LungsAndLiver We might be starting to get closer to uncovering the medical mystery as to what’s causing all my mysterious symptoms and decline. I went online and was able to access my blood work results. This time it also showed that my alpha 1 antitrypsin was low, 0.81 when the normal range is 1-2. They said that anything below that normal range usually indicates  a deficiency of the protein caused by a genetic disorder! Maybe that’s what’s been causing all this trouble all along?

I have no idea what the hell that even was, despite knowing quite alot of medical stuff having grown up in a medical household, but this one I had never even heard of so I had to Google it, and it turns out it’s a A1AT protein deficiency inherited from both parents, due to a faulty gene on both sides(if you only have one gene of it then you’re a carrier but don’t actually have it yourself) and due to it they are odd-shaped and unable to leave the liver where they’re produced to travel thru the bloodstream to the lungs where they are also needed and as a result you have breathing problems(as the lungs need it too to function properly) similar to asthma(like I’ve always had my entire life, even as a kid, the shortness of breath, wheezing, coughing, and inability to breathe that my hubby always denies that I have and taunts that I’m just lazy and using as an excuse,and that gym teachers in school always accused me of making up just to get out of gym class….. it also affects the liver and first shows as constant elevated liver enzymes on blood tests (sound familiar?) and gallbladder ( and something like 12 people in my family have had theirs taken out or had gallbladder cancer if not….) and sometimes even failing enough to need a liver or lung transplant so it will interesting to see if this might be it and where it may lead…at least we’re finally starting to get some answers…

I guess the next step to go from here would be to take certain tests that test for genetic markers, to confirm or rule out a defective gene and possibly a liver or lung biopsy. Then if it turns out positive, what about the kids? Could any of them have inherited it,too? They say symptoms typically begin to appear around age 40-50 but you can have breathing issues as a kid and you should avoid the Flu vaccine as well. Not that I’d ever get it anyway when everyone I know who has ever gotten it has gotten really sick; even sicker than if they had the Flu! Oh, shit…. my hubby also mocks me that I don’t really want to die otherwise I wouldn’t be getting all my ailments looked into, but I’m curious as to what’s causing it all, and it doesn’t mean that I’m going to do anything about it ( for example, if it turned out I had cancer I wouldn’t get chemo; I’d just let it  take it’s course) I just want relief from the symptoms.