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Alpha-1 Antitrypsin Deficiency Conference

Posted Aug 24 2008 4:42pm
We have just returned from St. Louis where we attended the National Alpha-One Antitrypsin Deficiency Education Conference. Read more about alpha-one here: As you probably know, both Nathan and Harrison were daignosed with Alpha-One Antitrypsin Deficiency last summer and this is what lead to Nathan's liver transplant. I am so glad that we were able to attend. It was a wonderful opportunity to hear about the latest research, meet top physicians who are working in the alpha-one community, and meet other families with children who are affected. Even though alpha-one is present in 1 in 3000, only about 5,000 people in the U.S. have actually been diagnosed. That seems overwhelming to me when I think that 2 of those 5000 are my children. There are about 25 million carriers of alpha-one. Stephen and I are both carriers. This means that we carry one normal and one abnormal gene for alpha-one. So each of our children had a 25% of having alpha-one (Harrison and Nathan), a 50% chance of being a carrier, and a 25% chance of not being affected at all (Andrew). I remember how I felt about this time last year. It was so overwhelming to be faced with an unfamiliar diagnosis and an uncertain future. I think that is why a conference like this is so important. It seems like the more I can educate myself about alpha-one, the better I am able to face the future. One physician who spoke at the conference said something that really stuck out to me. He said that, "You (who are affected) have to be your own expert when it comes to your diagnosis." This makes sense to me. There are not that many physicians who have extensive knowledge about alpha-one. That means I have to know everything I can about this disease that affects my children. I have to do everything I can to work towards a future where a cure is possible. So now my mind is churning with different possibilities of how I can be a part of working towards a cure. Who knows what we will come up with. But, I think as a family that we have to do something. Maybe it gives us some power over this disease, I don't know. I don't feel I can just wait on someone else to do something. Stephen has some crazy ideas on how to raise money. Of course, I am a little more practical. We'll see what we come up with. If you would like more information on how to help, you can look here: . I pray that there will be a future where Harrison and the many others who are affected will not have to face the effects of this disease. Now that Nathan has been transplanted, he is essentially cured of the alpha-one. But, we have traded alpha-one for the effects of living post-transplant. Now we find ourselves a part of both of these communities. Oh how I long for the simplicity we had last April....

We did a couple of fun things while we were in St. Louis as well. We went up in the arch (yikes!) and we took the kids to a Cardinals game. I will share some pictures later.
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