Hello all,<div><br></div><div>I've perused these forums most of the night and have decided just to get a post on here.</div><div><br></div><div>I'm the father of a 6 week old baby boy who was confirmed to have the R117H, 7T mutation . We've just completed the first sweat test which came back as 32- in the intermediate range. The doctor informed us that a second test must be done to draw a better conclusion- but we must wait 4 weeks until the second test will be performed. Obviously, these are quite anxious times for my wife and I (though undoubtedly not nearly as trying as what most on here have been through).</div><div><br></div><div>I guess a few questions I would have would be:</div><div>[#1]- what are others experience with the sweat test returning an intermediate result? what happens if the second sweat test also returns an intermediate result, should my wife and I pursue a full genetic test?</div><div><br></div><div>[#2]- R117H seems to be a mild mutation- could this be the reason for a slightly elevated sweat test?</div><div><br></div><div>[#3]- any other advice from parents who have had similar experiences?</div><div><br></div><div><br></div><div>Also, I'd just like to add that our eyes have really been opened to the reality of CF. Whether our final result is positive or negative, we definitely plan on supporting the CF community in any way we can moving forward. </div><div><br></div><div>Best regards</div>
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
R117h 7T, intermediate sweat test result
- Thread starter copper34m
- Start date
Hello all,<br>I've perused these forums most of the night and have decided just to get a post on here.<br>I'm the father of a 6 week old baby boy who was confirmed to have the R117H, 7T mutation . We've just completed the first sweat test which came back as 32- in the intermediate range. The doctor informed us that a second test must be done to draw a better conclusion- but we must wait 4 weeks until the second test will be performed. Obviously, these are quite anxious times for my wife and I (though undoubtedly not nearly as trying as what most on here have been through).<br>I guess a few questions I would have would be:[#1]- what are others experience with the sweat test returning an intermediate result? what happens if the second sweat test also returns an intermediate result, should my wife and I pursue a full genetic test?<br>[#2]- R117H seems to be a mild mutation- could this be the reason for a slightly elevated sweat test?<br>[#3]- any other advice from parents who have had similar experiences?<br><br>Also, I'd just like to add that our eyes have really been opened to the reality of CF. Whether our final result is positive or negative, we definitely plan on supporting the CF community in any way we can moving forward.<br>Best regards
Hello all,<br>I've perused these forums most of the night and have decided just to get a post on here.<br>I'm the father of a 6 week old baby boy who was confirmed to have the R117H, 7T mutation . We've just completed the first sweat test which came back as 32- in the intermediate range. The doctor informed us that a second test must be done to draw a better conclusion- but we must wait 4 weeks until the second test will be performed. Obviously, these are quite anxious times for my wife and I (though undoubtedly not nearly as trying as what most on here have been through).<br>I guess a few questions I would have would be:[#1]- what are others experience with the sweat test returning an intermediate result? what happens if the second sweat test also returns an intermediate result, should my wife and I pursue a full genetic test?<br>[#2]- R117H seems to be a mild mutation- could this be the reason for a slightly elevated sweat test?<br>[#3]- any other advice from parents who have had similar experiences?<br><br>Also, I'd just like to add that our eyes have really been opened to the reality of CF. Whether our final result is positive or negative, we definitely plan on supporting the CF community in any way we can moving forward.<br>Best regards
<br>I don't have any experience with R117h 7T but I know their are many people with confirmed CF who do not have high sweat test results. You should definitely persue the full Ambry panel if the second sweat test still comes back intermediate or even if it comes back low. Proactive treatment of CF is essential even if there are currently no symptoms. Most of us has been through the anxiety caused by a possible CF diagnosis. It is a difficult thing to face as a parent. The first few months after my daughter's diagnosis at 18 months, I just about cried every time I looked at my little girl. Once you get through the initial firehose of information and get used to the treatment routines, it does get easier. I hope the final results show your little one does not have CF, but it would absolutely be better to know for sure than to think he is OK and find later that he does have CF.
<br>I don't have any experience with R117h 7T but I know their are many people with confirmed CF who do not have high sweat test results. You should definitely persue the full Ambry panel if the secondsweat test still comes back intermediate or even if it comes back low. Proactive treatmentof CF is essential even if there are currently no symptoms.Most of us has been through the anxiety caused by a possible CF diagnosis. It is a difficult thing to face as a parent. The first few months after my daughter's diagnosis at 18 months, I just about cried every time I looked at my little girl. Once you get through the initial firehose of information and get used to the treatment routines, it does get easier. I hope the final results show your little one does not have CF, but it would absolutely be better to know for sure than to think he is OK and find later that he does have CF.
<p><br>I don't have any experience with R117h 7T but I know their are many people with confirmed CF who do not have high sweat test results. You should definitely persue the full Ambry panel if the secondsweat test still comes back intermediate or even if it comes back low. Proactive treatmentof CF is essential even if there are currently no symptoms.<p><p>Most of us has been through the anxiety caused by a possible CF diagnosis. It is a difficult thing to face as a parent. The first few months after my daughter's diagnosis at 18 months, I just about cried every time I looked at my little girl. Once you get through the initial firehose of information and get used to the treatment routines, it does get easier. I hope the final results show your little one does not have CF, but it would absolutely be better to know for sure than to think he is OK and find later that he does have CF.<p><p>
russells75
New member
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt">Hi,<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com<img src="i/expressions/face-icon-small-blush.gif" border="0">ffice<img src="i/expressions/face-icon-small-blush.gif" border="0">ffice" /><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT face="Times New Roman" color=#000000 size=3></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="FONT-FAMILY: Arial"><FONT size=3>I guess I have had time to come to terms with my son's diagnosis, as it was picked up at the heal prick test and he will be 4 years old next week. Total shock to us as no one in the family to date has ever had cf in my family or my husbands. We both had the same gene (RH711-7T).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>We did see a genetic counsellor shortly after diagnosis and it was said that he may not be affected by the disease however could be infertile (vans deferens).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT size=3></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>His sweat test was normal being 20, he is pancreatic sufficient, his secretions aren't thick and never have been. He has always been in the 80-100% range for height and weight. And we are very blessed that he is doing so well. We attend CF Clinics 4 times a year. My boy takes abdek vitamin daily and glucolyte and his daily physio session, which includes lots of jumping on the trampoline.</FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial">I hope any of the above can help you!</SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="FONT-FAMILY: Arial"><FONT size=3>I guess I have had time to come to terms with my son's diagnosis, as it was picked up at the heal prick test and he will be 4 years old next week. Total shock to us as no one in the family to date has ever had cf in my family or my husbands. We both had the same gene (RH711-7T).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>We did see a genetic counsellor shortly after diagnosis and it was said that he may not be affected by the disease however could be infertile (vans deferens).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT size=3></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>His sweat test was normal being 20, he is pancreatic sufficient, his secretions aren't thick and never have been. He has always been in the 80-100% range for height and weight. And we are very blessed that he is doing so well. We attend CF Clinics 4 times a year. My boy takes abdek vitamin daily and glucolyte and his daily physio session, which includes lots of jumping on the trampoline.</FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial">I hope any of the above can help you!</SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></P>
russells75
New member
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt">Hi,<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com<img src="i/expressions/face-icon-small-blush.gif" border="0">ffice<img src="i/expressions/face-icon-small-blush.gif" border="0">ffice" /><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT face="Times New Roman" color=#000000 size=3></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="FONT-FAMILY: Arial"><FONT size=3>I guess I have had time to come to terms withmy son'sdiagnosis, as it was picked up at the heal prick test and he will be 4 years old next week. Total shock to us as no one in the family to date has ever had cf in my family or my husbands. We both had the same gene (RH711-7T).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>We did see a genetic counsellor shortly after diagnosis and it was said that he may not be affected by the disease however could be infertile (vans deferens).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT size=3></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>His sweat test was normal being 20, he is pancreatic sufficient, his secretions aren't thick and never have been. He has always been in the 80-100% range for height and weight. And we are very blessed that he is doing so well. We attend CF Clinics 4 times a year. My boy takes abdek vitamin daily and glucolyte and his daily physio session, which includes lots of jumping on the trampoline.</FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial">I hope any of the above can help you!</SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="FONT-FAMILY: Arial"><FONT size=3>I guess I have had time to come to terms withmy son'sdiagnosis, as it was picked up at the heal prick test and he will be 4 years old next week. Total shock to us as no one in the family to date has ever had cf in my family or my husbands. We both had the same gene (RH711-7T).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>We did see a genetic counsellor shortly after diagnosis and it was said that he may not be affected by the disease however could be infertile (vans deferens).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT size=3></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>His sweat test was normal being 20, he is pancreatic sufficient, his secretions aren't thick and never have been. He has always been in the 80-100% range for height and weight. And we are very blessed that he is doing so well. We attend CF Clinics 4 times a year. My boy takes abdek vitamin daily and glucolyte and his daily physio session, which includes lots of jumping on the trampoline.</FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial">I hope any of the above can help you!</SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></P>
russells75
New member
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt">Hi,<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com<img src="i/expressions/face-icon-small-blush.gif" border="0">ffice<img src="i/expressions/face-icon-small-blush.gif" border="0">ffice" /><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT face="Times New Roman" color=#000000 size=3></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="FONT-FAMILY: Arial"><FONT size=3>I guess I have had time to come to terms withmy son'sdiagnosis, as it was picked up at the heal prick test and he will be 4 years old next week. Total shock to us as no one in the family to date has ever had cf in my family or my husbands. We both had the same gene (RH711-7T).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>We did see a genetic counsellor shortly after diagnosis and it was said that he may not be affected by the disease however could be infertile (vans deferens).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT size=3></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>His sweat test was normal being 20, he is pancreatic sufficient, his secretions aren't thick and never have been. He has always been in the 80-100% range for height and weight. And we are very blessed that he is doing so well. We attend CF Clinics 4 times a year. My boy takes abdek vitamin daily and glucolyte and his daily physio session, which includes lots of jumping on the trampoline.</FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial">I hope any of the above can help you!</SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></P><BR>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="FONT-FAMILY: Arial"><FONT size=3>I guess I have had time to come to terms withmy son'sdiagnosis, as it was picked up at the heal prick test and he will be 4 years old next week. Total shock to us as no one in the family to date has ever had cf in my family or my husbands. We both had the same gene (RH711-7T).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>We did see a genetic counsellor shortly after diagnosis and it was said that he may not be affected by the disease however could be infertile (vans deferens).<o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><o<img src="i/expressions/face-icon-small-tongue.gif" border="0">><FONT size=3></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial"><FONT size=3>His sweat test was normal being 20, he is pancreatic sufficient, his secretions aren't thick and never have been. He has always been in the 80-100% range for height and weight. And we are very blessed that he is doing so well. We attend CF Clinics 4 times a year. My boy takes abdek vitamin daily and glucolyte and his daily physio session, which includes lots of jumping on the trampoline.</FONT></SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"><SPAN style="COLOR: #444444; FONT-FAMILY: Arial">I hope any of the above can help you!</SPAN></P>
<P class=MsoNormal style="MARGIN: 0cm 0cm 0pt"></FONT></o<img src="i/expressions/face-icon-small-tongue.gif" border="0">></P><BR>
S
SarahProcter
Guest
My daughter has CF. Her sweat tests were all intermediate - 41, 40, 37. She has two confirmed disease-causing mutations (one very rare, and presumed to be "milder"). So, for what it's worth, my personal experience of grey-zone sweat tests is that it indicates that there are indeed mutations there that cause the CFTR function to not be normal.
That said, my daughter is pancreatic sufficient, is tall for her age and average weight, and has been extremely healthy. So, at least at this very young age, her health and her life have not been negatively impacted by CF. We visit the CF clinic regularly and do vest treatments as a "best practice" for preventative care.
No one can tell what the future holds for your child, but do know that there is a very wide range of experiences of CF. It is very easy as a new parent to become horrified and terrified by the most severe experiences and project that forward as the fate of your beloved newborn child. Try very hard not to do that. Your son is going to have his own life, and his own experience. Congratulations on the birth of your son!
That said, my daughter is pancreatic sufficient, is tall for her age and average weight, and has been extremely healthy. So, at least at this very young age, her health and her life have not been negatively impacted by CF. We visit the CF clinic regularly and do vest treatments as a "best practice" for preventative care.
No one can tell what the future holds for your child, but do know that there is a very wide range of experiences of CF. It is very easy as a new parent to become horrified and terrified by the most severe experiences and project that forward as the fate of your beloved newborn child. Try very hard not to do that. Your son is going to have his own life, and his own experience. Congratulations on the birth of your son!
S
SarahProcter
Guest
My daughter has CF. Her sweat tests were all intermediate - 41, 40, 37. She has two confirmed disease-causing mutations (one very rare, and presumed to be "milder"). So, for what it's worth, my personal experience of grey-zone sweat tests is that it indicates that there are indeed mutations there that cause the CFTR function to not be normal.
That said, my daughter is pancreatic sufficient, is tall for her age and average weight, and has been extremely healthy. So, at least at this very young age, her health and her life have not been negatively impacted by CF. We visit the CF clinic regularly and do vest treatments as a "best practice" for preventative care.
No one can tell what the future holds for your child, but do know that there is a very wide range of experiences of CF. It is very easy as a new parent to become horrified and terrified by the most severe experiences and project that forward as the fate of your beloved newborn child. Try very hard not to do that. Your son is going to have his own life, and his own experience. Congratulations on the birth of your son!
That said, my daughter is pancreatic sufficient, is tall for her age and average weight, and has been extremely healthy. So, at least at this very young age, her health and her life have not been negatively impacted by CF. We visit the CF clinic regularly and do vest treatments as a "best practice" for preventative care.
No one can tell what the future holds for your child, but do know that there is a very wide range of experiences of CF. It is very easy as a new parent to become horrified and terrified by the most severe experiences and project that forward as the fate of your beloved newborn child. Try very hard not to do that. Your son is going to have his own life, and his own experience. Congratulations on the birth of your son!
S
SarahProcter
Guest
My daughter has CF. Her sweat tests were all intermediate - 41, 40, 37. She has two confirmed disease-causing mutations (one very rare, and presumed to be "milder"). So, for what it's worth, my personal experience of grey-zone sweat tests is that it indicates that there are indeed mutations there that cause the CFTR function to not be normal.
<br />
<br />That said, my daughter is pancreatic sufficient, is tall for her age and average weight, and has been extremely healthy. So, at least at this very young age, her health and her life have not been negatively impacted by CF. We visit the CF clinic regularly and do vest treatments as a "best practice" for preventative care.
<br />
<br />No one can tell what the future holds for your child, but do know that there is a very wide range of experiences of CF. It is very easy as a new parent to become horrified and terrified by the most severe experiences and project that forward as the fate of your beloved newborn child. Try very hard not to do that. Your son is going to have his own life, and his own experience. Congratulations on the birth of your son!
<br />
<br />That said, my daughter is pancreatic sufficient, is tall for her age and average weight, and has been extremely healthy. So, at least at this very young age, her health and her life have not been negatively impacted by CF. We visit the CF clinic regularly and do vest treatments as a "best practice" for preventative care.
<br />
<br />No one can tell what the future holds for your child, but do know that there is a very wide range of experiences of CF. It is very easy as a new parent to become horrified and terrified by the most severe experiences and project that forward as the fate of your beloved newborn child. Try very hard not to do that. Your son is going to have his own life, and his own experience. Congratulations on the birth of your son!
Hi,
Approx 6 months ago we were in the same boat as you are in now (one detected mutation, elevated IRT, found through newborn screening). We went for sweat test and more genetic testing on the same day, which confirmed our son is a carrier of the DF508 (although here in Canada they only test for about 80 different mutations).
I would definitely pursue the full panel (we didn't as ds's sweat test were only 14).
Wishing you all the best and a positive outcome! The only reason I stick around is because before ds' birth I knew nothing about CF and now I want to support wherever I can.
Approx 6 months ago we were in the same boat as you are in now (one detected mutation, elevated IRT, found through newborn screening). We went for sweat test and more genetic testing on the same day, which confirmed our son is a carrier of the DF508 (although here in Canada they only test for about 80 different mutations).
I would definitely pursue the full panel (we didn't as ds's sweat test were only 14).
Wishing you all the best and a positive outcome! The only reason I stick around is because before ds' birth I knew nothing about CF and now I want to support wherever I can.
Hi,
Approx 6 months ago we were in the same boat as you are in now (one detected mutation, elevated IRT, found through newborn screening). We went for sweat test and more genetic testing on the same day, which confirmed our son is a carrier of the DF508 (although here in Canada they only test for about 80 different mutations).
I would definitely pursue the full panel (we didn't as ds's sweat test were only 14).
Wishing you all the best and a positive outcome! The only reason I stick around is because before ds' birth I knew nothing about CF and now I want to support wherever I can.
Approx 6 months ago we were in the same boat as you are in now (one detected mutation, elevated IRT, found through newborn screening). We went for sweat test and more genetic testing on the same day, which confirmed our son is a carrier of the DF508 (although here in Canada they only test for about 80 different mutations).
I would definitely pursue the full panel (we didn't as ds's sweat test were only 14).
Wishing you all the best and a positive outcome! The only reason I stick around is because before ds' birth I knew nothing about CF and now I want to support wherever I can.
Hi,
<br />
<br />Approx 6 months ago we were in the same boat as you are in now (one detected mutation, elevated IRT, found through newborn screening). We went for sweat test and more genetic testing on the same day, which confirmed our son is a carrier of the DF508 (although here in Canada they only test for about 80 different mutations).
<br />
<br />I would definitely pursue the full panel (we didn't as ds's sweat test were only 14).
<br />
<br />Wishing you all the best and a positive outcome! The only reason I stick around is because before ds' birth I knew nothing about CF and now I want to support wherever I can.
<br />
<br />
<br />
<br />Approx 6 months ago we were in the same boat as you are in now (one detected mutation, elevated IRT, found through newborn screening). We went for sweat test and more genetic testing on the same day, which confirmed our son is a carrier of the DF508 (although here in Canada they only test for about 80 different mutations).
<br />
<br />I would definitely pursue the full panel (we didn't as ds's sweat test were only 14).
<br />
<br />Wishing you all the best and a positive outcome! The only reason I stick around is because before ds' birth I knew nothing about CF and now I want to support wherever I can.
<br />
<br />
M
Mommafirst
Guest
My daughter had borderline sweats 45 and 53. It took a fully Ambry test to locate both CF mutations. If you KNOW your son has at least one mutation and his sweat tests are not normal, then you really should push until you have unturned every avenue and can truly put CF to rest -- its too serious of a disease that really benefits from preventative care, to just take a wait and see approach. Best of luck!!
M
Mommafirst
Guest
My daughter had borderline sweats 45 and 53. It took a fully Ambry test to locate both CF mutations. If you KNOW your son has at least one mutation and his sweat tests are not normal, then you really should push until you have unturned every avenue and can truly put CF to rest -- its too serious of a disease that really benefits from preventative care, to just take a wait and see approach. Best of luck!!