Guest guest Posted November 13, 2002 Report Share Posted November 13, 2002 That's cool that you are using them! I spoke with on the phone extensively, because I want to take some time to pass out their information to doctors and midwives in this area. had a false positive screening for galactosemia carrier and that threw us off track in terms of diagnosing CF, because they did a second state screening, by the time we got that back, positive also, he was almost three months old. Then they started drawing blood to do genotyping. Took three blood draws, with waits of two weeks in between each one, to get negative results (they were putting the blood in the wrong tube, which happened *twice* at the same lab...grrrrr!). So that wasted another 6 weeks. Meanwhile we attributed his projectile vomiting and pale green stool to the possible galactosemia carrier status. When that finally came back negative, I kind of threw up my hands and said " ok, fine, he's small and throws up a lot, but there is nothing wrong with him. " I mean, we had seen a geneticist and everything. Anyway...sorry, I started ranting. But I realized how many of our problems would have been solved by this screening. said the hospitals in this area won't start using their service even though it only costs them $25 or so per baby. The state screening here only screens for 5 or 6 things and it takes at least 2 weeks. Plus you mail the blood first class mail on a card and it " degrades in the heat " which can cause false positives...which apparently happened *twice* with 's sample. But the state is very resistant to using NeoGen for their screening needs. In the state of PA, NeoGen is used at all the hospitals as the newborn screening test. Can you tell I am passionate about this subject? :-) Oh, and Krystena -- congratulations!!!! )O( mama to , 2yo, w/CF, and , 4yo, no CF Fw: results/Torsten Torsten, this is the email I received back from Neo Gen Screening. I will look up the link and send it to you as well. I can't believe it is so fast either! Krystena Re: results Results are available in 2-3 days. The results if normal are mailed to the physician listed on the filter paper. If something was identified, the results would be phoned and faxed to the physician. Only physicians and hospitals are able to access results. It is necessary to obtain a secured password. If you have any other questions, you can reach me at 1-866-4NEOGEN X112. This is a toll free number. G. Marchese-Beatty, MS, MBA, CGC Genetic Counselor and Director of Client Services ----- Original Message ----- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2002 Report Share Posted November 13, 2002 , 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 ----- Original Mes sage ----- From: Arcuri Ware To: cfparents Sent: Wednesday, November 13, 2002 7:58 AM Subject: RE: Fw: results/Torsten That's cool that you are using them! I spoke with on the phone extensively, because I want to take some time to pass out their information to doctors and midwives in this area. had a false positive screening for galactosemia carrier and that threw us off track in terms of diagnosing CF, because they did a second state screening, by the time we got that back, positive also, he was almost three months old. Then they started drawing blood to do genotyping. Took three blood draws, with waits of two weeks in between each one, to get negative results (they were putting the blood in the wrong tube, which happened *twice* at the same lab...grrrrr!). So that wasted another 6 weeks. Meanwhile we attributed his projectile vomiting and pale green stool to the possible galactosemia carrier status. When that finally came back negative, I kind of threw up my hands and said " ok, fine, he's small and throws up a lot, but there is nothing wrong with him. " I mean, we had seen a geneticist and everything. Anyway...sorry, I started ranting. But I realized how many of our problems would have been solved by this screening. said the hospitals in this area won't start using their service even though it only costs them $25 or so per baby. The state screening here only screens for 5 or 6 things and it takes at least 2 weeks. Plus you mail the blood first class mail on a card and it " degrades in the heat " which can cause false positives...which apparently happened *twice* with 's sample. But the state is very resistant to using NeoGen for their screening needs. In the state of PA, NeoGen is used at all the hospitals as the newborn screening test. Can you tell I am passionate about this subject? :-) Oh, and Krystena -- congratulations!!!! )O( mama to , 2yo, w/CF, and , 4yo, no CF Fw: results/Torsten Torsten, this is the email I received back from Neo Gen Screening. I will look up the link and send it to you as well. I can't believe it is so fast either! Krystena Re: results Results are available in 2-3 days. The results if normal are mailed to the physician listed on the filter paper. If something was identified, the results would be phoned and faxed to the physician. Only physicians and hospitals are able to access results. It is necessary to obtain a secured password. If you have any other questions, you can reach me at 1-866-4NEOGEN X112. This is a toll free number. G. Marchese-Beatty, MS, MBA, CGC Genetic Counselor and Director of Client Services ----- Original Message ----- PLEASE do not post religious emails to the list. ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. -------------------------------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2002 Report Share Posted November 13, 2002 Hi Krystena, big misunderstanding. I read from your original message that you are nine weeks pregnant and await the results within three days FROM NOW, because I thought you were talking about prenatal testing. Good Luck with the pg, hope you feel better soon. Peace Torsten Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2002 Report Share Posted November 13, 2002 Hi Krystena, big misunderstanding. I read from your original message that you are nine weeks pregnant and await the results within three days FROM NOW, because I thought you were talking about prenatal testing. Good Luck with the pg, hope you feel better soon. Peace Torsten Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2002 Report Share Posted November 13, 2002 Hi Krystena, big misunderstanding. I read from your original message that you are nine weeks pregnant and await the results within three days FROM NOW, because I thought you were talking about prenatal testing. Good Luck with the pg, hope you feel better soon. Peace Torsten Quote Link to comment Share on other sites More sharing options...
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...
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