What started it all...{part 7} "Test Results"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

We found out on Tuesday that Gavin does have Alpha-1 Antitrypsin Deficiency, phenotype ZZ.

Normally, our livers produce a protein called Alpha-1 Antitrypsin, which protects the lungs from damage and helps repair them. With Alpha-1 Antitrypsin Deficiency, your body either isn't producing enough of the protein, the proteins are dysfunctional, or they aren't being transported correctly. In the latter case they get all backed up in the liver, which can cause cirrhosis of the liver (liver damage). There is still a chance that he'll eventually end up needing a liver transplant.

Things like dust, pollution, chemicals, cigarette smoke, any illnesses that affect the lungs like pneumonia and RSV...can damage his lungs very quickly, so we'll need to be very careful about his exposure to them. 50% of Alpha 1's also end up getting emphasema in their 30-40's, and could require a lung transplant.

It is a genetic disorder, so Andre and I both carry an abnormal gene and a normal one, and Gavin got both abnormal ones. So if we decide to have more children, they would each have a 25% chance of getting the disorder, a 50% chance of being a carrier, or a 25% of having both normal genes. It is actually the third leading genetic disorder...Downs Syndrome being #1 and Cystic Fibrosis being #2. A lot of people have never even heard of it and have no idea if they are a carrier for it (like us!). Our whole family will be getting genetic testing done to see which phenotype we are.

There isn't a whole lot they can really *do* for it...he is on a medication that helps his liver, and he will stay on the predigested formula. (so no more pumping! now onto weaning him off *ouch*) But other than that they will just be monitoring his liver enzymes through monthly blood work, and weight checks once a week (for now). At least it doesnt really affect his usual everyday life...he can still be "normal", we just need to be really careful.

We're kind of low-spirited this week because of it...its just scary and unpredictable and hard to not look too far into the future. Its bringing up a lot of new discussions like moving, adoption, etc. But I guess all we can do is be grateful for what we have in front of us right now, and take one day at a time!

We are glad to have an answer though. And we just found out there is going to be an Alpha-1 Education Day here in Mesa (its held in a different nationwide city every year) the first week of March, so that was really lucky...I think it will really help us to meet other parents dealing with this same thing and to see and hear positive stories about it.

Here are some Alpha 1 websites if you are interested in learning more about it:

Alpha1.org
AlphaNet.org
AlphaOne.org

{ read part 8 }