Hi Everybody! It's been a while. I'll catch you up as best I can.

We went to the pulmonologist January 24th. They did the pulmonary function tests and found that I am pretty much the same as 6 months ago. I'm at about 31% lung function. What does that mean? I don't exactly know. My doctor has me labeled as severe COPD.

I missed 3 infusions due to insurance issues. And I got really tired/exhausted and frustrated from not having the infusions. My bruised and needle-poked hands healed nicely though. Today is March 3rd and I've had infusions the past 4 weeks and am feeling more energetic and happy. I'm definitely not one of those happy sick people. I would not be an inspiration to everyone in the hospital room, smiling and laughing, and keeping spirits up. Nope. I would just sleep and read and sleep.

I keep reading and studying about this disease. Here is what I have learned lately:

There are 3 main variations of the alpha-1 antitrypsin gene. There is the M, the S, and the Z.

These genes are codominant. M produces normal amounts of alpha-1 antitrypsin. S produces about 60% of normal. Z produces about 15% of normal.

Each person has 2 separate alpha-1 genes - one from Mom and one from Dad.

Each person is (pretty much) one of the following 6 genotypes:

(one gene from mom and one gene from dad)
1. MM produces 23.7 to 41.7 micromoles per liter (mcM) alpha-1 antitrypsin
2. MS produces  21.1 - 33.1 mcM
3. SS produces  14.6 - 31.0 mcM

4. MZ produces  14.0 - 31.6 mcM
5. SZ produces    7.5 - 19.9 mcM
6. ZZ produces   1.3 - 7.7 mcM  

I am ZZ with about 4.5 mcM of my own alpha-1 antitrypsin in my blood. You can see that I'm very deficient on the scale of 1.3 to 41.7. The infusions bring that number up each week, but after 1 week my body has destroyed the antitrypsin so I'm back down again, hence another infusion.

So what about our kids? Our babies? 

Since alpha-1 antitrypsin is produced in the liver, the liver can be affected by the abnormal S and Z genes. This is because the alpha-1 antitrypsin S and Z proteins fold up into abnormal shapes in the cells and cause problems. Watch for jaundice and hepatitis in infancy and childhood. It's pretty rare, but it does occur. And as one gets older, then the lungs present their problems - shortness of breath, emphysema.

Just a reminder of what the alpha-1 antitrypsin protein does. It destroys the (bad) elastase enzyme. The elastase enzyme cuts up the elastic fibers in the lungs making it harder to breathe.

I totally love learning about all this stuff. I'm having fun trying to put the information out there so that it is understandable. Don't hesitate to ask questions. I will answer them the best I can, and research the rest.

The alpha-1 antitrypsin deficiency is termed a "rare genetic disorder." Lots of research is still being done. 

We are definitely seeing variations in those family members that have been tested. Maybe we could get Mom's blood tested. It is an easy test. We would have a better idea of what to expect as her kids and grandkids.

My email is deedee.granata@gmail.com


Easy breathing to all.