deltaf508 found doing sequencing testing

mlag2010

New member
Hi Everyone,,
So my daughter did not sweat enough for the second sweat test and will have to go back for another in four weeks. After the elevated IRT she was given a test that covers 35 poss. mutations... most common or more common of the cf mutations. She on that test came back with the deltaf508. the cutoff for newborns is thirty...thanks steve! The other piece of GOOD NEWS IS that they are going to do the sequencing testing on her, blood sample taken today, YAY!! Hip Hip HURRAY!!! So we should have the results of that in two weeks... as well as my carrier testing... they are sending it off to genzyme. Hopefully this is a good sign and these are dr's that really know what they need to do..relieved to not have to fight as hard as some of you but sorry that you have had to. I am very happy this all seems like progress in the right direction.. one of the biggest deciding factors was that she still isn't gaining weight sufficiently she is 6 wks out from her birth and only weighs 1 lb and 1 oz more she is up to 8 lbs 9oz's. So that flagged her, even more so for them. She is now also spitting up nearly everytime I burb her or feed her and even if I burp her frequently, or not at all. That seems to have really started today. SO on we go moving forward and perhaps upward! MLAG
 

mlag2010

New member
Hi Everyone,,
So my daughter did not sweat enough for the second sweat test and will have to go back for another in four weeks. After the elevated IRT she was given a test that covers 35 poss. mutations... most common or more common of the cf mutations. She on that test came back with the deltaf508. the cutoff for newborns is thirty...thanks steve! The other piece of GOOD NEWS IS that they are going to do the sequencing testing on her, blood sample taken today, YAY!! Hip Hip HURRAY!!! So we should have the results of that in two weeks... as well as my carrier testing... they are sending it off to genzyme. Hopefully this is a good sign and these are dr's that really know what they need to do..relieved to not have to fight as hard as some of you but sorry that you have had to. I am very happy this all seems like progress in the right direction.. one of the biggest deciding factors was that she still isn't gaining weight sufficiently she is 6 wks out from her birth and only weighs 1 lb and 1 oz more she is up to 8 lbs 9oz's. So that flagged her, even more so for them. She is now also spitting up nearly everytime I burb her or feed her and even if I burp her frequently, or not at all. That seems to have really started today. SO on we go moving forward and perhaps upward! MLAG
 

mlag2010

New member
Hi Everyone,,
<br /> So my daughter did not sweat enough for the second sweat test and will have to go back for another in four weeks. After the elevated IRT she was given a test that covers 35 poss. mutations... most common or more common of the cf mutations. She on that test came back with the deltaf508. the cutoff for newborns is thirty...thanks steve! The other piece of GOOD NEWS IS that they are going to do the sequencing testing on her, blood sample taken today, YAY!! Hip Hip HURRAY!!! So we should have the results of that in two weeks... as well as my carrier testing... they are sending it off to genzyme. Hopefully this is a good sign and these are dr's that really know what they need to do..relieved to not have to fight as hard as some of you but sorry that you have had to. I am very happy this all seems like progress in the right direction.. one of the biggest deciding factors was that she still isn't gaining weight sufficiently she is 6 wks out from her birth and only weighs 1 lb and 1 oz more she is up to 8 lbs 9oz's. So that flagged her, even more so for them. She is now also spitting up nearly everytime I burb her or feed her and even if I burp her frequently, or not at all. That seems to have really started today. SO on we go moving forward and perhaps upward! MLAG
 
M

Mommafirst

Guest
Sounds like you are finally getting towards some answers. I'm glad to hear it. Sorry that its looking more like CF is what is happening here, but glad that you'll know and won't have to live in limbo for much longer.
 
M

Mommafirst

Guest
Sounds like you are finally getting towards some answers. I'm glad to hear it. Sorry that its looking more like CF is what is happening here, but glad that you'll know and won't have to live in limbo for much longer.
 
M

Mommafirst

Guest
Sounds like you are finally getting towards some answers. I'm glad to hear it. Sorry that its looking more like CF is what is happening here, but glad that you'll know and won't have to live in limbo for much longer.
 

ashmomo

New member
Hope you get an answer and can treat her with the right meds. Hope she starts gaining weight soon, my little one has trouble gaining as well. She is 14 mos and weighs jsut over 17 1/2 pounds.

Will be thinking about you guys <img src="i/expressions/face-icon-small-blush.gif" border="0">)
 

ashmomo

New member
Hope you get an answer and can treat her with the right meds. Hope she starts gaining weight soon, my little one has trouble gaining as well. She is 14 mos and weighs jsut over 17 1/2 pounds.

Will be thinking about you guys <img src="i/expressions/face-icon-small-blush.gif" border="0">)
 

ashmomo

New member
Hope you get an answer and can treat her with the right meds. Hope she starts gaining weight soon, my little one has trouble gaining as well. She is 14 mos and weighs jsut over 17 1/2 pounds.
<br />
<br />Will be thinking about you guys <img src="i/expressions/face-icon-small-blush.gif" border="0">)
 
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