tag:blogger.com,1999:blog-10665946.post8143108218348081226..comments2023-08-12T09:50:06.698-05:00Comments on Unique But Not Alone...life with the Alpha Girls: Testing Newborns for Alpha-1 Antitrypsin DeficiencyJenhttp://www.blogger.com/profile/12860934723471342394noreply@blogger.comBlogger3125tag:blogger.com,1999:blog-10665946.post-57501979357200107862008-09-06T20:43:00.000-05:002008-09-06T20:43:00.000-05:00I think alpha 1 antitrypsin tests should be includ...I think alpha 1 antitrypsin tests should be included with newborn screening. We have had A1AT deficiency in my family (In Egypt) and tried to convince our doctor to do the test on our newborn. He said he would wait at least few years till our child is older. <BR/><BR/>We finally decided to get the test done on our own, through www.dnadiagnosticlabs.com since they are the only company we found to provide this genetic test.<BR/><BR/>He is positive for the deficiency. and we are starting recombinant A1AT therapy. I strongly recommend testing for it and it should be included in newborn screening. we are not sure what is going to happen next, but we are the hoping that the therapy workAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-10665946.post-6847852050114454532008-08-26T20:07:00.000-05:002008-08-26T20:07:00.000-05:00Hi Jen-Wow-sounds like Lora and I had extremely si...Hi Jen-<BR/>Wow-sounds like Lora and I had extremely similar experiences, luckily Hank's diagnoses came much earlier. Having said that, <BR/>I agree that it would be beneficial for the Alpha 1 to be part of the newborn screenings. We feel very fortunate that we found out at 13 months so that we can do everything possible to protect Hank's lungs and pray that his liver keeps on doing a good job. From what I have read many people that don't have severe liver issues find out they have Alpha 1 after they have lived a life that exposed them to lung irritants, either because of their job or lifestyle choices. What if these people had been diagnosed as children? Would they have made different choices? <BR/><BR/>Good luck at you conference, thanks for all you do for Alphas and their families.caseyleighhttps://www.blogger.com/profile/10151753960707192372noreply@blogger.comtag:blogger.com,1999:blog-10665946.post-74085213830664763762008-08-24T19:53:00.000-05:002008-08-24T19:53:00.000-05:00Jen - I definitely would like to see alpha-1 inclu...Jen - I definitely would like to see alpha-1 included in newborn screening for all states. When Nathan was born at 38 weeks he weighed 4lb. 11oz. and he was diagnosed with intrauterine growth retardation. He spent a few days in NICU and nothing was found as a cause. Six years later he was diagnosed with alpha-1 and at that time he was already in chronic liver failure and had a transplant just 7 months after diagnosis. I am not sure if an earlier diagnosis would have changed anything, but at least we would have been armed with knowledge. Transplant would have been less of a shock. Newborn screening for alpha-1 could have given us a diagnosis sooner. Loralora and stephenhttps://www.blogger.com/profile/09775870624760803938noreply@blogger.com