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.
11 comments:
I hope she will have good health through her life. You will be able to take good care of her. I'll be seeing her in 2 1/2 days! I'm excited.
hey, i've learned about this disorder in all my genetics classes but never knew anyone with it.. what a blessing it is to have the medical care to help understand things! she's sure a sweet little girl!
You two are such great parents and great people. I know you can handle whatever is thrown your way, but I'm so sorry you are going through this. Like Julie said, though, I'm so glad there's such great medical technology out there that makes these things a little easier. Your family is in our thoughts and prayers. What a precious little angel!
Oh wow Ashley! I think that it's good that you guys know that there is something wrong with her right from the start. She will have much better odds of having less problems because you guys are aware of this. I'm sure that it's really hard, but try to have faith and not fear. Heavenly Father loves all of you and will help you know what to do and how to handle this. In the end, you have a beautiful, beautiful girl who will be a huge blessing in your lives regardless of what you have to go through with this. What a blessing.
Awe, what a little sweety. I'm sorry Ash. I'm sure it's a stressful feeling. It's so hard when you want to help your children, and there is not much that can be done to help. But, I agree with Meg. Definately nice to know it from the start so you can take precausions, instead of finding out later. But, I am so happy that she is home now with you guys. What a great place to be!
Hey Ash ... I bet it is stressful but relieving to KNOW what is going on and figure out a plan for it. I was just thinking about you and ck your blog often ... Since you had your baby girl ... two of my friends have delivered. One found out the day she was going in for her 21wk ultrasound to see what the gender is - that the baby didn't have a heartbeat anymore - she had to deliver him that day. It was heartbreaking to read her story - it was her 4th child. She wrote, they said hello and goodbye. The other friend had a seziure and was rushed to the hospital with clampsia and was induce 7 wks early. She is home now - after a wk but the baby is still in the NICU - it will be awhile before he will be strong enough to eat on his own and go home. I love that you feel so blessed with your precious baby even though there have been a few bumps. These girls are really strong too. Thanks for your strenth ... it is inspiring! Glad to hear that Kate is home and in a safe and loving environment.
It is stressful to have a child with health problems, but I'm sure she will be totally fine. It just seems like a big deal right now because it's all so brand new. She is darling and I want to hug her and squeeze her. How fun to have a brand new baby around.
oh gosh... i can't imagine how stressful that must be. the worry...
she is so adorable, and i'm glad it's not something worse... i don't know. a diagnosis is always nice to have, i guess is what i mean. and she'll be ok.
i have weak lungs, and it's not so bad. like you said, you just have to take precautions... and live in really "clean air" states like hawaii. HAHA!!
love y'all.
Oh Ashley she is adorable. IT is always scary to think what could happen. But, just have faith. THrough prayer and faith anything can happen. You will be great parents you will help her and protect her. Little kids are tough and she will pull through. You are awesome. Let me know if there is anything we can do to help. We would love to come and get paige so you can get some rest.
I'm sorry to hear this but at least you have some answers now. I hope it is nothing too serious. She is beautiful! How is Paige handling the adjustment? Your family is so cute.
It would be so stressful to find out that your baby has a disorder- you'd feel so helpless. You just want everything to be perfect with your baby. Jordan said he learned about Kate's disorder in class and it's really good she was diagnosed early. That way you guys can keep an eye on her and the majority of people live a totally normal life. Kate's such a cutie!!
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