Enough with the genetics lesson. What about my kids?

Well, now that we fully understood the genetic makeup, we awaited the results from MUSC. It turns out (thankfully) that my wife was a MM (the "normal" genotype), so the kids are automatically MZ -- No chance of them being anything else. Therefore, I have less to worry about in terms of the testing being part of their medical record. However, we have had a hypothetical conversation with their doctor, and asked her to help with the same types of precautions that any lung or liver affected alpha may take -- more aggressively approaching lung infections, vaccinations, smoke avoidance, etc...

However, the genotype is only half the battle. Given that it is a Co-Dominant gene, you can be an MZ and still have levels of A1AT in your bloodstream that are well within normal ranges. Or, you could have levels that come close to those with the ZZ genotype. Therefore, it is vital to have family members tested for the following:

1. Genotype (eg. MM, MZ, SZ -- This one contains the even more rare allele, the "S" Allele, ZZ)

2. If the genotype is anything other than MM, A1AT levels should be tested.

3. Again, if the genotype is anything other than MM, Liver function tests should be tested and monitored.

Unfortunately, as my experience has shown, there are many primary care Doctors that have no idea as to the existence of A1AT, much less the need for you and your family to be tested. In this regard, we are our own best advocate when it comes to health care. Do not be afraid to ask questions, or suggest possibilities if you suspect something. It could very well save your life, or the life of someone around you!