R117H question

[HappyHearts]

Thank you for the info Harriett! I had originally asked my pedi about having her blood tested when she was born. He said it had to wait until she could have a substantial blood draw in her arm vs. the the heel prick test done for her newborn screen. I asked at her 15 month well check if her arm was ready and he said yes. I just haven't taken her yet b/c I cannot fathom how to get her to sit still for a blood draw?! Plus, prior to reading on here I didn't know that she could have both mutations and possibly pass a sweat test so I wasn't really worried. I better get my butt in gear and get her tested if only for my sanity!

Thanks again <img src="i/expressions/face-icon-small-smile.gif" border="0">

Janelle

 

[HappyHearts]

Thank you for the info Harriett! I had originally asked my pedi about having her blood tested when she was born. He said it had to wait until she could have a substantial blood draw in her arm vs. the the heel prick test done for her newborn screen. I asked at her 15 month well check if her arm was ready and he said yes. I just haven't taken her yet b/c I cannot fathom how to get her to sit still for a blood draw?! Plus, prior to reading on here I didn't know that she could have both mutations and possibly pass a sweat test so I wasn't really worried. I better get my butt in gear and get her tested if only for my sanity!

Thanks again <img src="i/expressions/face-icon-small-smile.gif" border="0">

Janelle

 

[HappyHearts]

Thank you for the info Harriett! I had originally asked my pedi about having her blood tested when she was born. He said it had to wait until she could have a substantial blood draw in her arm vs. the the heel prick test done for her newborn screen. I asked at her 15 month well check if her arm was ready and he said yes. I just haven't taken her yet b/c I cannot fathom how to get her to sit still for a blood draw?! Plus, prior to reading on here I didn't know that she could have both mutations and possibly pass a sweat test so I wasn't really worried. I better get my butt in gear and get her tested if only for my sanity!

Thanks again <img src="i/expressions/face-icon-small-smile.gif" border="0">

Janelle

 

[HappyHearts]

Thank you for the info Harriett! I had originally asked my pedi about having her blood tested when she was born. He said it had to wait until she could have a substantial blood draw in her arm vs. the the heel prick test done for her newborn screen. I asked at her 15 month well check if her arm was ready and he said yes. I just haven't taken her yet b/c I cannot fathom how to get her to sit still for a blood draw?! Plus, prior to reading on here I didn't know that she could have both mutations and possibly pass a sweat test so I wasn't really worried. I better get my butt in gear and get her tested if only for my sanity!

Thanks again <img src="i/expressions/face-icon-small-smile.gif" border="0">

Janelle

 

[HappyHearts]

Thank you for the info Harriett! I had originally asked my pedi about having her blood tested when she was born. He said it had to wait until she could have a substantial blood draw in her arm vs. the the heel prick test done for her newborn screen. I asked at her 15 month well check if her arm was ready and he said yes. I just haven't taken her yet b/c I cannot fathom how to get her to sit still for a blood draw?! Plus, prior to reading on here I didn't know that she could have both mutations and possibly pass a sweat test so I wasn't really worried. I better get my butt in gear and get her tested if only for my sanity!
<br />
<br />Thanks again <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Janelle

 

[Sakem]

Janelle...
I would educate your pedi that 2 neg sweat tests are not enough and demand blood test to see if she carries the mutations or not. Yes sometimes 7t shows no cf symptoms...but ive attached a study that shows several cf infants w/ that mutation that are culturing CF pathogens....pseudo....so If it was my child I would want to know for certain so that treatment could be started if needed....best of luck
<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260">http://pediatrics.aappublicati...ontent/full/118/3/1260</a>

 

[Sakem]

Janelle...
I would educate your pedi that 2 neg sweat tests are not enough and demand blood test to see if she carries the mutations or not. Yes sometimes 7t shows no cf symptoms...but ive attached a study that shows several cf infants w/ that mutation that are culturing CF pathogens....pseudo....so If it was my child I would want to know for certain so that treatment could be started if needed....best of luck
<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260">http://pediatrics.aappublicati...ontent/full/118/3/1260</a>

 

[Sakem]

Janelle...
I would educate your pedi that 2 neg sweat tests are not enough and demand blood test to see if she carries the mutations or not. Yes sometimes 7t shows no cf symptoms...but ive attached a study that shows several cf infants w/ that mutation that are culturing CF pathogens....pseudo....so If it was my child I would want to know for certain so that treatment could be started if needed....best of luck
<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260">http://pediatrics.aappublicati...ontent/full/118/3/1260</a>

 

[Sakem]

Janelle...
I would educate your pedi that 2 neg sweat tests are not enough and demand blood test to see if she carries the mutations or not. Yes sometimes 7t shows no cf symptoms...but ive attached a study that shows several cf infants w/ that mutation that are culturing CF pathogens....pseudo....so If it was my child I would want to know for certain so that treatment could be started if needed....best of luck
<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260">http://pediatrics.aappublicati...ontent/full/118/3/1260</a>

 

[Sakem]

Janelle...
<br />I would educate your pedi that 2 neg sweat tests are not enough and demand blood test to see if she carries the mutations or not. Yes sometimes 7t shows no cf symptoms...but ive attached a study that shows several cf infants w/ that mutation that are culturing CF pathogens....pseudo....so If it was my child I would want to know for certain so that treatment could be started if needed....best of luck
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260">http://pediatrics.aappublicati...ontent/full/118/3/1260</a>

 

[HappyHearts]

Thanks for the article Sakem. I think I have read it (my head is swirling with the zillions of sites I have read over the last few days). My confusion comes when two of the four babies are specified as having the 9T variant and the other two don't say it - does that mean they are 7T *only* like in my husband's case? It seems most examples I read are 7T AND 9T or just 5T . . . I know the mutations don't guarantee the symptoms/outcome but I can't help looking for that glimmer of hope I guess.

I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test. It nagged on me and I came across an article or two that said carriers can have elevated IRT's so I pushed it out of my mind. I found those articles over a year ago while probably on pain pills from my c-section and few hours of sleep with a newborn so I wonder now if I read them correctly.

 

[HappyHearts]

Thanks for the article Sakem. I think I have read it (my head is swirling with the zillions of sites I have read over the last few days). My confusion comes when two of the four babies are specified as having the 9T variant and the other two don't say it - does that mean they are 7T *only* like in my husband's case? It seems most examples I read are 7T AND 9T or just 5T . . . I know the mutations don't guarantee the symptoms/outcome but I can't help looking for that glimmer of hope I guess.

I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test. It nagged on me and I came across an article or two that said carriers can have elevated IRT's so I pushed it out of my mind. I found those articles over a year ago while probably on pain pills from my c-section and few hours of sleep with a newborn so I wonder now if I read them correctly.

 

[HappyHearts]

Thanks for the article Sakem. I think I have read it (my head is swirling with the zillions of sites I have read over the last few days). My confusion comes when two of the four babies are specified as having the 9T variant and the other two don't say it - does that mean they are 7T *only* like in my husband's case? It seems most examples I read are 7T AND 9T or just 5T . . . I know the mutations don't guarantee the symptoms/outcome but I can't help looking for that glimmer of hope I guess.

I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test. It nagged on me and I came across an article or two that said carriers can have elevated IRT's so I pushed it out of my mind. I found those articles over a year ago while probably on pain pills from my c-section and few hours of sleep with a newborn so I wonder now if I read them correctly.

 

[HappyHearts]

Thanks for the article Sakem. I think I have read it (my head is swirling with the zillions of sites I have read over the last few days). My confusion comes when two of the four babies are specified as having the 9T variant and the other two don't say it - does that mean they are 7T *only* like in my husband's case? It seems most examples I read are 7T AND 9T or just 5T . . . I know the mutations don't guarantee the symptoms/outcome but I can't help looking for that glimmer of hope I guess.

I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test. It nagged on me and I came across an article or two that said carriers can have elevated IRT's so I pushed it out of my mind. I found those articles over a year ago while probably on pain pills from my c-section and few hours of sleep with a newborn so I wonder now if I read them correctly.

 

[HappyHearts]

Thanks for the article Sakem. I think I have read it (my head is swirling with the zillions of sites I have read over the last few days). My confusion comes when two of the four babies are specified as having the 9T variant and the other two don't say it - does that mean they are 7T *only* like in my husband's case? It seems most examples I read are 7T AND 9T or just 5T . . . I know the mutations don't guarantee the symptoms/outcome but I can't help looking for that glimmer of hope I guess.
<br />
<br />I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test. It nagged on me and I came across an article or two that said carriers can have elevated IRT's so I pushed it out of my mind. I found those articles over a year ago while probably on pain pills from my c-section and few hours of sleep with a newborn so I wonder now if I read them correctly.

 

[dyza]

Hi Janelle, My son has these mutations with the 7T, he also passed 2 sweat tests as did I think all the ones here with the rh117 mutation. His IRT was elevated at birth and this was from the heel prick test, he is pancreatic sufficient however. You must get the blood test done, good thing is that it will not need to be the full Ambry test (where they test for 1500 mutations) as the 2 mutations are covered in the simply test that covers the 30 or so most common mutations.

It is however very important to remember that no two cases of CF are the same, they can be very similar, but so different at the same time. There are other factors that play a part in CF.

craig

 

[dyza]

Hi Janelle, My son has these mutations with the 7T, he also passed 2 sweat tests as did I think all the ones here with the rh117 mutation. His IRT was elevated at birth and this was from the heel prick test, he is pancreatic sufficient however. You must get the blood test done, good thing is that it will not need to be the full Ambry test (where they test for 1500 mutations) as the 2 mutations are covered in the simply test that covers the 30 or so most common mutations.

It is however very important to remember that no two cases of CF are the same, they can be very similar, but so different at the same time. There are other factors that play a part in CF.

craig

 

[dyza]

Hi Janelle, My son has these mutations with the 7T, he also passed 2 sweat tests as did I think all the ones here with the rh117 mutation. His IRT was elevated at birth and this was from the heel prick test, he is pancreatic sufficient however. You must get the blood test done, good thing is that it will not need to be the full Ambry test (where they test for 1500 mutations) as the 2 mutations are covered in the simply test that covers the 30 or so most common mutations.

It is however very important to remember that no two cases of CF are the same, they can be very similar, but so different at the same time. There are other factors that play a part in CF.

craig

 

[dyza]

Hi Janelle, My son has these mutations with the 7T, he also passed 2 sweat tests as did I think all the ones here with the rh117 mutation. His IRT was elevated at birth and this was from the heel prick test, he is pancreatic sufficient however. You must get the blood test done, good thing is that it will not need to be the full Ambry test (where they test for 1500 mutations) as the 2 mutations are covered in the simply test that covers the 30 or so most common mutations.

It is however very important to remember that no two cases of CF are the same, they can be very similar, but so different at the same time. There are other factors that play a part in CF.

craig

 

[dyza]

Hi Janelle, My son has these mutations with the 7T, he also passed 2 sweat tests as did I think all the ones here with the rh117 mutation. His IRT was elevated at birth and this was from the heel prick test, he is pancreatic sufficient however. You must get the blood test done, good thing is that it will not need to be the full Ambry test (where they test for 1500 mutations) as the 2 mutations are covered in the simply test that covers the 30 or so most common mutations.
<br />
<br />It is however very important to remember that no two cases of CF are the same, they can be very similar, but so different at the same time. There are other factors that play a part in CF.
<br />
<br />craig