Guest guest Posted November 13, 2002 Report Share Posted November 13, 2002 Ooh, sorry, too much coffee. Yes I guess I can type about as fast as I can talk, LOL. I never used NeoGen. I found them through your link to Caden's story, then I poked around on some links from that website, I think. The false positives were from the Florida state screening. I didn't know NeoGen existed until recently. I called and talked with because I am very interested in expanding newborn screenings. My first thought was to contact my midwife and the other midwives in the area -- was born at home with a midwife attending -- so that they could hand the booklet out to their clients and offer them this in addition to the Florida screening. I thought since my midwife knows Jake's story intimately, she'd be more likely to offer this...she knows what we went through with the galactosemia and then the CF diagnosis. I feel like if we'd just done NeoGen's testing from the start, we would have known he had CF when he was a few days old, and I can't even begin to tell you the heartache we would've been spared, and the growth and development issues, too. It just makes me sick that for $30 this was available and I didn't know it. I would have done it for sure. said that NeoGen diagnoses CF first through the trypsin test, not sure what that is, but it is a blood test they can do on newborns instead of the sweat test and I think is not accurate on older babies. Then if that comes up positive they do DNA testing for 25-30 of the most common mutations. If that comes up negative, they recommend DNA testing through Genzyme (which does the 80 most common...supposing that if that is negative one would then do Ambry). She said that for all the disorders, they have an initial screen, then do DNA confirmation with the same blood sample for any positives. I think it saves them money because the disorders are so rare, the chances of them having to do DNA testing on anything are overall very low. Ambry tests for way more mutations so that is why it is so costly. )O( mama to , 2yo, w/CF, and , 4yo, no CF Re: Fw: results/Torsten , Hi, boy you must type fast! ha So, was 's false postives from Neo Gen? Our state (KY), only test for: 1.. Galactosemia 2.. Hypothyroidism (congenital) 3.. Phenylketonuria (PKU) 4.. Sickle Cell Disease (SCD) and Hemoglobinopathies Pretty sad, hugh? How long did it take for the results to come back once you used the neo gen screening? How did you finally learn of neo gen? Sorry, I must not have understood everything. (blonde) ha Did you order the filter paper/cards to take with you to the hospital and pay for it as it was shipped out? How do they diagnose CF? Is it by DNA on the filter paper? Wonder why it can be done so much cheaper at birth? It costed me $325 for the Ambry test (that we are still waiting on). It may be ready by Friday. Well, looks like we have something in common. I have been trying to become more active in advocating for newborn screening and have gotten in some blooklets to pass out. Glutaric Aciduria typeII (which is what Caden has), is detectable through new born screening! Have you been to the save babies through screening website? It falls under the Fatty Acid Oxidation Disorders. Well, nice to hear of someone who already has experience with this facility. Thanks for the congrats. I have been so severely sick. But,hey, I can sit up this morning! It is terrible not being able to eat and feeling nauseated 24/7. I have lost 4 lbs! Later, Krystena s Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 2002 Report Share Posted November 14, 2002 Hey Krystena, > > Thanks for the congrats. I have been so severely sick. But,hey, I can sit up > this morning! It is terrible not being able to eat and feeling nauseated 24/7. > I have lost 4 lbs! I remember this! Sick as a dog, 24/7 for 13 weeks! That was Sian - if it had been my eldest I have my doubts there would be a Sian! I am feeling for you, really! BTW, Sian sucked back her 2L of Golytely yesterday, and today the lump is noticably absent. Yay!! Much love to all, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 2002 Report Share Posted November 14, 2002 Hey Krystena, > > Thanks for the congrats. I have been so severely sick. But,hey, I can sit up > this morning! It is terrible not being able to eat and feeling nauseated 24/7. > I have lost 4 lbs! I remember this! Sick as a dog, 24/7 for 13 weeks! That was Sian - if it had been my eldest I have my doubts there would be a Sian! I am feeling for you, really! BTW, Sian sucked back her 2L of Golytely yesterday, and today the lump is noticably absent. Yay!! Much love to all, Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.