Amira Posted October 29, 2014 Share Posted October 29, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
Elisabet1 Posted October 29, 2014 Share Posted October 29, 2014 They put my oldest through the sweat test multiple times. Years later, I realized I had a screening for the CF gene while pregnant and it was negative. The whole test was a waste. Are you a carrier? Also..even later, another child just did not grow. That child is now 13 yrs old, 5'5/6 and 150 pounds. But he was 18 pounds at 18 months. The first child that did not grow turned 18 yrs old at 5'7 but only 110 pounds. So it turned out different for both. He was less than 18 pounds at 18 months I think, but probably close to. ((((hugs)))) Call your OB and see if you had the screening. It is pretty standard. If you did not carry the gene, you can probably cancel the test. I guess I can see the test was today. You can still call the OB to see if you are a carrier. Please let us know the results. Quote Link to comment Share on other sites More sharing options...
La Condessa Posted October 30, 2014 Author Share Posted October 30, 2014 No results back yet. We will have to wait for tomorrow. Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted October 30, 2014 Share Posted October 30, 2014 They put my oldest through the sweat test multiple times. Years later, I realized I had a screening for the CF gene while pregnant and it was negative. The whole test was a waste. Are you a carrier? Also..even later, another child just did not grow. That child is now 13 yrs old, 5'5/6 and 150 pounds. But he was 18 pounds at 18 months. The first child that did not grow turned 18 yrs old at 5'7 but only 110 pounds. So it turned out different for both. He was less than 18 pounds at 18 months I think, but probably close to. ((((hugs)))) Call your OB and see if you had the screening. It is pretty standard. If you did not carry the gene, you can probably cancel the test. I guess I can see the test was today. You can still call the OB to see if you are a carrier. Please let us know the results. They discover new genes for certain conditions all the time. My son has a genetic condition, since he was diagnosed six years ago they have added six more genes to the test. So several people who had been through genetic testing and had received negative results were then tested again only to receive a positive. Unless someone had the screening last week it has probably changed. Genetics is a very dynamic field. There are CF genes that they have not found, I would not cancel a sweat test because of a genetic test. Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted October 30, 2014 Share Posted October 30, 2014 No results back yet. We will have to wait for tomorrow. :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
Starr Posted October 30, 2014 Share Posted October 30, 2014 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
Scarlett Posted October 30, 2014 Share Posted October 30, 2014 No results back yet. We will have to wait for tomorrow. I just now saw this. Praying for good results, calm hearts and peace. Quote Link to comment Share on other sites More sharing options...
SweetIrony Posted October 30, 2014 Share Posted October 30, 2014 They put my oldest through the sweat test multiple times. Years later, I realized I had a screening for the CF gene while pregnant and it was negative. The whole test was a waste. Are you a carrier? Also..even later, another child just did not grow. That child is now 13 yrs old, 5'5/6 and 150 pounds. But he was 18 pounds at 18 months. The first child that did not grow turned 18 yrs old at 5'7 but only 110 pounds. So it turned out different for both. He was less than 18 pounds at 18 months I think, but probably close to. ((((hugs)))) Call your OB and see if you had the screening. It is pretty standard. If you did not carry the gene, you can probably cancel the test. I guess I can see the test was today. You can still call the OB to see if you are a carrier. Please let us know the results. They discover new genes for certain conditions all the time. My son has a genetic condition, since he was diagnosed six years ago they have added six more genes to the test. So several people who had been through genetic testing and had received negative results were then tested again only to receive a positive. Unless someone had the screening last week it has probably changed. Genetics is a very dynamic field. There are CF genes that they have not found, I would not cancel a sweat test because of a genetic test. Not only is Slartibartfast correct about newly discovered and unknown mutations, but most carrier screenings only check for a small number of the most common mutations. I believe my own carrier screening tested for just 23, but there are over 1500 known mutations. Different types of mutations lead to different manifestations of the disease, so someone with a rare mutation might not fit the "classic" symptoms of CF. For a small set of mutations, there is a medication (Kalydeco) now available that might prove to be the cure. It is very exciting and I daydream that in a few years my daughter might just need to take a few pills a day and her CF will be reversed at the cellular level. OP, I hope doing the test went ok and that he sweated enough! I've been thinking about you all day. Quote Link to comment Share on other sites More sharing options...
UmMusa Posted October 30, 2014 Share Posted October 30, 2014 I pray for healthy results. I'm sorry this is happening, I'm sure it feels gut wrenching. Take care mama. Quote Link to comment Share on other sites More sharing options...
kitten18 Posted October 30, 2014 Share Posted October 30, 2014 Praying for your family today. Quote Link to comment Share on other sites More sharing options...
La Condessa Posted October 30, 2014 Author Share Posted October 30, 2014 The test results came back negative. I am so grateful and relieved. Thank you all! Now, on with the move. Quote Link to comment Share on other sites More sharing options...
Aiden Posted October 30, 2014 Share Posted October 30, 2014 Yay! Rejoicing with you! Quote Link to comment Share on other sites More sharing options...
MysteryJen Posted October 30, 2014 Share Posted October 30, 2014 Wonderful news! Quote Link to comment Share on other sites More sharing options...
LinRTX Posted October 30, 2014 Share Posted October 30, 2014 Yea!!! That is great news! Quote Link to comment Share on other sites More sharing options...
Eagle Posted October 30, 2014 Share Posted October 30, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
speedmom4 Posted October 30, 2014 Share Posted October 30, 2014 Woohoo!! Elise in NC Quote Link to comment Share on other sites More sharing options...
kitten18 Posted October 30, 2014 Share Posted October 30, 2014 Yay! I'm so relieved for you all! Quote Link to comment Share on other sites More sharing options...
FriedClams Posted October 30, 2014 Share Posted October 30, 2014 Praise God!!! :-) :-) :-) Quote Link to comment Share on other sites More sharing options...
texasmama Posted October 30, 2014 Share Posted October 30, 2014 So wonderful to hear! Quote Link to comment Share on other sites More sharing options...
happi duck Posted October 30, 2014 Share Posted October 30, 2014 Yay!!!!!!!! Quote Link to comment Share on other sites More sharing options...
Melinda S in TX Posted October 30, 2014 Share Posted October 30, 2014 That's wonderful news!! Quote Link to comment Share on other sites More sharing options...
PuddleJumper1 Posted October 30, 2014 Share Posted October 30, 2014 Good News! Quote Link to comment Share on other sites More sharing options...
catz Posted October 30, 2014 Share Posted October 30, 2014 :hurray: So happy for you! Quote Link to comment Share on other sites More sharing options...
MomtoCandJ Posted October 30, 2014 Share Posted October 30, 2014 :) Quote Link to comment Share on other sites More sharing options...
Ottakee Posted October 30, 2014 Share Posted October 30, 2014 Glad you got good news. We had the same result here. Have you seen a pediatric pulmonologist? That was a huge help here. We ended up on a daily inhaled low dose steroid with mask from about age 3-4 months old and up. They also gave us Duoneb which is a combination med for the nebulizer which really helped as well. Quote Link to comment Share on other sites More sharing options...
chocolatechip Posted October 30, 2014 Share Posted October 30, 2014 That is wonderful. :grouphug: So happy for you!!! Quote Link to comment Share on other sites More sharing options...
Lady Florida. Posted October 30, 2014 Share Posted October 30, 2014 Great news! Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted October 31, 2014 Share Posted October 31, 2014 Good news! Hooray! Let us know how the pulmonology appointment goes. :) Quote Link to comment Share on other sites More sharing options...
umsami Posted October 31, 2014 Share Posted October 31, 2014 So very happy for you! :) Quote Link to comment Share on other sites More sharing options...
Halftime Hope Posted October 31, 2014 Share Posted October 31, 2014 My heart sunk just a little when you posted about having to wait another day; so thankful it came out well! Hooray! Quote Link to comment Share on other sites More sharing options...
gaillardia Posted October 31, 2014 Share Posted October 31, 2014 On with the move, indeed. I would cry tears of relief and joy. I hope you get smooth sailing on everything! Quote Link to comment Share on other sites More sharing options...
Scarlett Posted October 31, 2014 Share Posted October 31, 2014 The test results came back negative. I am so grateful and relieved. Thank you all! Now, on with the move. That is wonderful news. So happy for you all! :party: Quote Link to comment Share on other sites More sharing options...
Openhearted Posted October 31, 2014 Share Posted October 31, 2014 So very happy for you and baby. You have been in our prayers every night, and I think of you often through the day. Many blessings to your family and good health.:) Quote Link to comment Share on other sites More sharing options...
La Condessa Posted October 31, 2014 Author Share Posted October 31, 2014 Thank you all so much. As I finished the phone call with the nurse, I was actually shaking--with relief. The nurse who did the sweat test yesterday asked me many questions about his breathing and seemed very concerned, despite his wheezing having actually improved noticeably the last few days. Then she went and called around to see if there was any way a pulmonologist could fit him in that day. They couldn't, but she said she would put a note in for scheduling to rush his appointment, so hopefully that means we won't have to wait until December to see a specialist like we had been told. Also, the pediatrician called me after work hours this evening to talk about how he's doing. She said that since he is still wheezing after eight days on the additional medications she prescribed when they discovered the pneumonia, I should take him to a pediatrician as soon as possible when we get to our new town. She said to tell them his previous dr wants him seen Monday or Tuesday, and to give them her phone number if need be to get him in soon. ETA: I'm glad to no longer feel in the position of trying to convince doctors that something is wrong, but to instead have medical professionals helping to get him the care he needs. Quote Link to comment Share on other sites More sharing options...
Tap Posted October 31, 2014 Share Posted October 31, 2014 Thank you all so much. As I finished the phone call with the nurse, I was actually shaking--with relief. The nurse who did the sweat test yesterday asked me many questions about his breathing and seemed very concerned, despite his wheezing having actually improved noticeably the last few days. Then she went and called around to see if there was any way a pulmonologist could fit him in that day. They couldn't, but she said she would put a note in for scheduling to rush his appointment, so hopefully that means we won't have to wait until December to see a specialist like we had been told. Also, the pediatrician called me after work hours this evening to talk about how he's doing. She said that since he is still wheezing after eight days on the additional medications she prescribed when they discovered the pneumonia, I should take him to a pediatrician as soon as possible when we get to our new town. She said to tell them his previous dr wants him seen Monday or Tuesday, and to give them her phone number if need be to get him in soon. ETA: I'm glad to no longer feel in the position of trying to convince doctors that something is wrong, but to instead have medical professionals helping to get him the care he needs. It is such sweet relief when you get the doctors on your side! I hope they find out what is happening very soon and that the treatment is quick and easy on all of you. (((((hugs)))) Quote Link to comment Share on other sites More sharing options...
Mrs Mungo Posted October 31, 2014 Share Posted October 31, 2014 I'm glad the sweat test was negative and that you're getting help with the pulmonology appointment. Quote Link to comment Share on other sites More sharing options...
KungFuPanda Posted October 31, 2014 Share Posted October 31, 2014 You're going to worry until you have an answer. You'll worry to the point of illness and insomnia. I've been through this with Muscular Dystrophy. I diagnosed my son first. My husband was in denial and thought I was paranoid until the doctors confirmed my suspicions, then he worried to the point of insomnia. I'm so sorry you have this stress. Most people just don't get it. I'd say get the appts ASAP so you will have an answer and KEEP insisting something is not right until you do. Quote Link to comment Share on other sites More sharing options...
dirty ethel rackham Posted October 31, 2014 Share Posted October 31, 2014 So relieved that the tests came back negative. Praying that you find answers to his health concerns. Quote Link to comment Share on other sites More sharing options...
Ewe Mama Posted October 31, 2014 Share Posted October 31, 2014 What wonderful news! Rejoicing with you! Quote Link to comment Share on other sites More sharing options...
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