Alpha-1~

My regular Frugal Friday post will return next week but today I have something important to share...

I don't normally post personal things on this blog, but the month of May is Alpha-1 Awareness Month, and because this disease is very much a part of my family's life, I felt strongly that I want to share a very personal story with all of you.

This post is going to be wordy, but I hope that you will take the time to read it, and to learn a little bit about my family and about Alpha One Antitrypsin Deficiency.


Alpha-1 is a relatively common (but fairly unknown) genetic liver disease affecting an estimated 100,000 people in the United States although to date only about 10,000 people are officially diagnosed with Alpha-1. I will explain more about the details of the disease as I tell you my story.

Mr. Three at 6 months

All Pictures by the Hubby



Almost 3 years ago, the Hubby and I learned that we were expecting our 4th child - a boy. My pregnancy was normal and the delivery was fairly easy. Shortly after delivery, however, things changed.


Just before the hospital was going to release us to bring little Mr. Three home, the pediatrician-on-call came into our room. He informed us that Mr. Three had jaundice. Jaundice in and of itself isn't necessarily scary, so I wasn't particularly worried at the news. He then proceeded to explain to us that there are two kinds of bilirubin (the cause of jaundice). The first is indirect bilirubin. It is the common cause of infant jaundice and isn't usually something to be overly concerned about if kept in check. The second is called direct bilirubin. Whenever there is an elevation in direct bilirubin, it is an indication that something more is wrong. The cause of Mr. Three's jaundice was an elevation in his direct bilirubin, so our doctors were concerned.


And the testing began. Test after test for what seemed like an eternity. Poor Mr. Three didn't have anywhere on his little heels that didn't have a tiny scab from a heel prick for bilirubin level testing. He wasn't gaining weight even though he ate constantly, and we went to the pediatrician daily for weigh-ins.

One of my more painful memories of this time occurred one Sunday as I was changing his diaper in the Mother's room at our church. A little girl who was there with her mother stared at him for a long time, and said finally, "Your baby is REALLY skinny."

"I know" is all I could manage to say back.

Everyday I looked at him as if I were willing him to gain weight, and hoping that his eyes would look less yellow to me. And everyday he was just as skinny, and just as yellow.


And still the testing continued. What I considered to be the scariest of the tests was one they performed for a condition called Biliary Atresia which would have required almost immediate surgery. They strapped my poor, tiny, yellow baby to a huge table and gave him something (it's been two years and I'm fairly good at suppressing painful memories, so I don't remember what it was) through an IV, then put him in what I think was an MRI machine (suppression again) to watch and see if it passed from his liver into his intestines. After two hours, barely any of it had passed through. But "barely any" was enough. And one of our amazing GI Docs called as soon as he heard the news to relieve us. He was relieved too.

But, then the diagnosis came from a simple blood test and even though it didn't require immediate surgery, it wasn't any better. Alpha One Antitrypsin Deficiency. And not only that, but the most severe version of the disease - a type known as ZZ (referring to the genetic code on the DNA).


"WHAT? What's that?" We'd never heard of it, and I bet most of you haven't either.


Alpha-1 is a genetic liver disease that must be inherited from both parents. Alpha One Antitrypsin is a protein that is produced by the liver. It's function is to protect the lungs from the body's own enzymes. So the disease can actually effect both the liver and the lungs. If there is not enough Alpha-1, the body can't adequately protect the lungs and they suffer from increased problems with COPD, emphysema and other related illnesses. There are two reasons why Alpha-1 can be deficient in the body. Either the liver doesn't produce enough of the protein, or it produces a deformed version of the protein that gets trapped in the liver causing liver damage.



Many times, the disease isn't caught during childhood because the person doesn't have difficulties with their liver per se. The fact that we discovered this diagnosis in Mr. Three during infancy gives him an increased chance for cirrhosis and possible liver transplant because obviously his liver isn't working as well as it could.



As scary as this was, it got even scarier when our GI docs urged us to have our other three children tested. Prior to Mr. Three's diagnosis, my husband and I were not even aware that we carried the gene for Alpha-1. So at this point, we weren't sure what to expect. Of course, statistically speaking, the likelihood of our other children being anything but carriers of the disease was low since neither my husband nor I showed any signs of the disease, and we already had one child with a confirmed diagnosis.



But, then the results came back and we learned that our family is an anomally. BOTH of our other sons also have Alpha-1 - with a ZZ allele. We were devastated. We learned that my husband and I are each only carriers of the gene, however, because although there is no known gender link, our three boys all suffer from this disease while somehow our daughter escaped without even being a carrier of the gene.

Mr. One at 18 months

Mr. Two at 1 month



Right now, all three of my boys are fairly healthy. Our wonderful docs have told us to simply treat them like any other children. But, sometimes I worry. Okay, I worry a lot. I look at their beautiful angel faces and wonder what this disease will mean for their futures. I worry that their impending liver biopsies will indicate cirrhosis. I worry that although they are healthy today, liver transplants may loom in their futures. I worry that even if they make it to adulthood without much liver difficulty, they still have the possibility of lung problems. I just worry.


Right now, Alpha-1 has no cure, but research continues. Here is a link to the Alpha One website. Please take a minute to go to the site and learn what you can do to help.


Everyday I look at these little faces and pray for a cure. ~