On Monday Kate had a liver scan done to see how everything is working. Then we met with the pediatric
gastroenterologist on Tuesday to get the results. Based on blood tests and the liver scan, he found that Kate has
Alpha-1 Antitrypsin Deficiency. It is a pretty rare genetic condition that puts her at a higher risk for liver and/or lung problems in the future. I guess both Nate and I are carriers for it, so we passed it on to her. We are going to meet with a genetic counselor and we will be tested to find out more about how we might pass it on to future children. Although, I don't think it would affect our decision to have more children. I found out that my cousin actually had a very severe case of this disorder and he had to have a liver transplant when he was 5 years old. The doctor told us that there is a pretty small chance that Kate would ever need a transplant. He has seen 40 or 50 children with
AATD and only 1 had to have a liver transplant.
Many people with
AATD are not diagnosed with it until they are adults and they start having lung problems. Infants and children who are diagnosed are more likely to have the liver problems. But generally, it seems like lung problems are much more common with this condition. There is no cure for it, and so far there aren't really any effective treatments available. The main things we can do for Kate are to make sure she is protected from cigarette smoke, pollutants, etc., and to keep an extra close watch for any infections, such as pneumonia, bronchitis, etc. Those things could cause her lungs to break down faster than an average person's lungs. She will also have blood tests and possibly ultrasounds every 6 months or so to monitor the condition.
We were definitely hoping to find out that everything was fine, or that whatever problem she had would just get better with time. I'm pretty bummed and stressed about all this. There are so many unknowns with this condition, which makes it really stressful. But from what I've read, it seems like many people who have this condition turn out just fine, or have mild symptoms. I'm just going to hope and pray for the best. That's all we can do.
This website explains the disorder if you want to learn about it.