Alpha-1 Antitrypsin Deficiency- Gavin's story
(I copied and pasted this from his website! Sorry its so long!!!)
Gavin was born into our family in the early morning hours of October 6th, 2007. We were all so excited for him to come...we had planned, prepared, hoped, and dreamed for this sweet little boy! His entrance was perfect...he was perfect! The older kids were so excited to have a little baby brother, and the first morning we brought him home we all snuggled in our bed together. We were so happy, you could’ve made a Hallmark commercial about it. We had no idea then that there was something wrong.
Looking back now, I guess our first sign that something was "off" was his birth weight. He was a mere 5lbs 5oz, born only 10 days early! He was smaller than his older sister who was born 3 weeks early at 6lbs 14oz, and even his older brother who was a preemie born 5 weeks early at 5lbs 14oz! Based on their birth weights and times, I expected Gavin to be around 8lbs. So we were all a bit surprised when he was a teensy little guy, but didn't think much of it at the time...he was just our perfect little baby boy.
He was a bit jaundiced when they did his labs at the hospital, but they sent us home after 2 days and we weren't very concerned about it, since so many babies start out a little jaundiced and it just goes away. At his newborn check-up his pediatrician didn't seem concerned at all and told us not to worry...so we didn't. We were too busy enjoying our new bundle of joy, our excitement and adrenaline were still going full blast, the sleepless nights barely even bothered us!
At Gavin's 1 month check-up he had only gained 1lb. Again, no one was very concerned...he did start out so small after all! He was also still jaundiced...but the pediatrician told us it was just "breastfeeding jaundice" and to supplement a little with formula to “kick start his liver into action”. So we started giving him a bottle here and there, even though I wasn't really excited about it since I was trying to soley breastfeed. Halloween came and went (Gavin was Superman!). Some of our relatives started commenting about Gavin’s size and coloring, which planted little seeds of worry in the back of our minds, but our pediatrician had told us not to worry, so we pushed them away. We didn’t fully understand, we saw Gavin every single day so it was hard to see him objectively…he was just our sweet little man in our eyes.
Life went on as usual, long sleepless nights...changing diapers...laundry, laundry, LAUNDRY! (the adrenaline began to wear off a bit…) But we still loved our little man to bits and pieces! At his 2 month check-up, Gavin had again only gained 1 lb and was still jaundiced, and getting even more yellow than he was before. Our pediatrician just said to “give him more formula and the jaundice will go away.” He also said that it must be my breastmilk that was at fault, and that it was not fatty enough. I started searching the internet for articles on breastfeeding, weight gain, jaundice, etc for hours…I called a lactation consultant, I spoke to a nurse through our insurance medical hotline…but couldn’t find any concrete explanations. A couple weeks later at our family Thanksgiving Dinner our relatives again brought up Gavin’s size and color, more concerned than ever.
We didn’t know what to do…we heard different opinions from every one! We tried all the tricks that people told us…taking herbal supplements and drinking herbal tea 3 times a day to increase breastmilk supply, giving Gavin acidophilus to help him digest his food, nursing on a schedule, nursing on demand, giving him even more formula, putting him in the sun, switching bottles/nipples/formula…but nothing was working.
A few weeks later and it was Christmas. Gavin’s eyes were dark yellow he was so jaundiced and he was so skinny. The comments from our family were relentless. Finally, while we were staying with my husband’s family for the holidays, I broke down and we started giving Gavin only formula in the hopes that it would “get those enzymes moving.” I pumped every 2 hours and stored my breastmilk in the freezer, while my husband helped feed Gavin. We were all exhausted and upset.
The day we got back home, a Friday, we took Gavin in to his doctor to demand that testing be done. His pediatrician noted his slight increase in weight gain, (a 1lb and a half!) and said he was pleased with his progress. Well, we weren’t. We again brought up his small size and his yellow skin...I said, “if for no other reason than to pacify my grandmother, you must do a blood test!” He replied “Ok, but I know his levels won’t be over the normal limit…and besides, if there were problems with his liver, we’d be seeing other things like ___ and ___ and white stools…” and my husband and I just gasped because Gavin HAD had white stools for a few days, but we just chalked it up to switching him to all formula. When we told the doctor this, he casually threw in “oh, well, we’ll go ahead and test his liver levels, too, while we’re at it.”
We walked out of that office in a rage. I swore we’d never go back, and we never did. I immediately scheduled an appointment with another pediatrician in the same practice (that had great reviews from some of my cousins) for the following Monday morning. When Monday rolled around my husband and I went through what we would say to the new doctor (try to be diplomatic, but honest enough to get our point across) but before we could say a word the new doctor walked in and said “Gavin’s test results came back…there is something wrong with his liver.” I remember my stomach just sinking…all this time…all the worry…all the searching...all the tricks…and all he needed was a simple blood test, and his old doctor did nothing about it that entire time.
The new pediatrician sent us home saying he would schedule us an appointment with a specialist within the next couple of days. My husband was so upset…but I reassured him “if it was really that serious, they would have sent us to the hospital.” An hour after we got home, Gavin’s new pediatrician called us back and said he had spoken to the specialist, but he said we needed to go to the hospital as soon as possible. We just looked at each other and started crying. There was no denying it now…there was something terribly wrong and there was nothing to do but pack our bags and go. That’s what started it all.
At first they thought he had Biliary Atresia, where you are born missing parts of your bile duct system. It pronounces itself exactly like Alpha-1 because they both pretty much do the same thing: cause liver disease. Since his first pediatrician caught his symptoms so late, Gavin had to undergo test after test in the hospital for four days, none of which were conclusive, which then led to surgery. Biliary Atresia success rates drop to 1% at 12 weeks...which is exactly how old he was. Usually doctors catch it at 8 weeks, or even earlier. There was no more time to wait for more test results, so they just had to open him up and see what was in there (or not in there!).
During those four long days before surgery, we agonized at the thought that we may lose our baby. Once they got him open, they found he wasn't missing any parts so they did a liver biopsy and closed him up. We felt like we had missed a speeding train! But then we were back at square 1: so what was causing his symptoms?
A few weeks later the biopsy results came back and they told us it was Alpha-1 Antitrypsin Deficiency, a genetic condition that can affect the liver in babies, or the lungs in adults. We had never even heard of it before! Its so strange that you can go your whole life not even knowing about certain conditions, until it SMACKS you in the face because one of your loved ones is diagnosed with it. And then this whole world is opened up to you, and you realize there are hundreds, thousands of people suffering...and nobody evens knows about it. Thats just not right!
We soon learned that our story was not an uncommon one in the world of liver disease...we have talked with many other families whose child was misdiagnosed and symptoms ignored, which led to emergency hospital stays, surgeries, etc. Most doctors just aren't educated on the subject or don't pay attention to the signs!
There are many, many conditions that cause liver disease in children and it is fatal unless its caught soon enough. There are also thousands of these precious little ones waiting for their "gift of life" through an organ transplant. Don't take your organs to heaven...heaven knows we need them here! We hope that Gavin's story will educate others about liver disease, Alpha-1, and organ donation...through adversity we can help save lives!