My 7 year old son has the S1235R mutation as well. This is the only site I have seen that has info on this mutation. We do not know the other mutation, or if he has another one, so they are calling him a carrier. My son passes his sweat tests, but has chronic sinus infections, lung issues and low immune issues.
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S1235R
- Thread starter LouLou
- Start date
My 7 year old son has the S1235R mutation as well. This is the only site I have seen that has info on this mutation. We do not know the other mutation, or if he has another one, so they are calling him a carrier. My son passes his sweat tests, but has chronic sinus infections, lung issues and low immune issues.
My 7 year old son has the S1235R mutation as well. This is the only site I have seen that has info on this mutation. We do not know the other mutation, or if he has another one, so they are calling him a carrier. My son passes his sweat tests, but has chronic sinus infections, lung issues and low immune issues.
My 7 year old son has the S1235R mutation as well. This is the only site I have seen that has info on this mutation. We do not know the other mutation, or if he has another one, so they are calling him a carrier. My son passes his sweat tests, but has chronic sinus infections, lung issues and low immune issues.
My 7 year old son has the S1235R mutation as well. This is the only site I have seen that has info on this mutation. We do not know the other mutation, or if he has another one, so they are calling him a carrier. My son passes his sweat tests, but has chronic sinus infections, lung issues and low immune issues.
MomOfMiles
New member
Hello! Your son is adorable! I have a 4 month old and we're currently going through testing.
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
MomOfMiles
New member
Hello! Your son is adorable! I have a 4 month old and we're currently going through testing.
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
MomOfMiles
New member
Hello! Your son is adorable! I have a 4 month old and we're currently going through testing.
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
MomOfMiles
New member
Hello! Your son is adorable! I have a 4 month old and we're currently going through testing.
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
I'm curious which test your son had which found the mutations, since he passed his newborn screening.
Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
MomOfMiles
New member
Hello! Your son is adorable! I have a 4 month old and we're currently going through testing.
<br />
<br />I'm curious which test your son had which found the mutations, since he passed his newborn screening.
<br />
<br />Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
<br />
<br />Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
<br />
<br />I'm curious which test your son had which found the mutations, since he passed his newborn screening.
<br />
<br />Miles, my son, passed his NB screen, had a borderline (42) sweat, 'passed' the 23 screen, and now we're waiting for his 4 month appt. on Monday to talk to his pediatrician to see what she wants to do - is she going to drop it? pursue it? He is a very small kiddo (5-10th percentile weight) and has some coughing/respiratory issues, but I'm not sure if he's what they would consider 'symptomatic.'
<br />
<br />Sorry to ramble. Anyway, I was just curious about the test they found your sons mutations on. Thanks!
Hi I;m not sure if anyones still following this thread, but I have 2 daughters with the Delta F508 and the S1235R.. Nearly no information out there and the geneticist we see has no clue as to how this mutation manifests itself.
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Hi I;m not sure if anyones still following this thread, but I have 2 daughters with the Delta F508 and the S1235R.. Nearly no information out there and the geneticist we see has no clue as to how this mutation manifests itself.
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Hi I;m not sure if anyones still following this thread, but I have 2 daughters with the Delta F508 and the S1235R.. Nearly no information out there and the geneticist we see has no clue as to how this mutation manifests itself.
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Hi I;m not sure if anyones still following this thread, but I have 2 daughters with the Delta F508 and the S1235R.. Nearly no information out there and the geneticist we see has no clue as to how this mutation manifests itself.
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
Both pancreatic sufficient, borderline sweat test results.
Both on Abdeck and Glucolyte.
They take Augmentin Duo when ill and extra physio.
Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
No meconium.
Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
Hi I;m not sure if anyones still following this thread, but I have 2 daughters with the Delta F508 and the S1235R.. Nearly no information out there and the geneticist we see has no clue as to how this mutation manifests itself.
<br />Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
<br />Both pancreatic sufficient, borderline sweat test results.
<br />Both on Abdeck and Glucolyte.
<br />They take Augmentin Duo when ill and extra physio.
<br />Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
<br />No meconium.
<br />Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
<br />5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
<br />super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
<br />My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
<br />Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
<br />Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
<br />Both my girls are fairly healthy, one case of RSV from daycare, and another of croup, think we may be facing another bout of croup now but so far we're waiting it out.
<br />Both pancreatic sufficient, borderline sweat test results.
<br />Both on Abdeck and Glucolyte.
<br />They take Augmentin Duo when ill and extra physio.
<br />Both are chubby chubby, my5 yr old was 9p9 and my 2 yr old was 8p7
<br />No meconium.
<br />Both had suspected laryngomalacia/tracheomalacia. Both had stridor breathing from birth to about1 year old.
<br />5 yr old tend to vomit when sick, not sure if she catches a stomach bug at the same time as resp exacerbations, or if its a matter of swallowing too much mucus and then bringing it up.
<br />super paranoid mum, Both have been at home most of their lives, daycare didnt last long when she got sick.
<br />My 5 yr old has started school and is loving it, but has picked up 2 nasty bugs. Looks like we may be spending easter and most her school holidays in hospital but as long as shes ok i'm happy!
<br />Best physio exercise we have found is blowing up balloons-she coughs alot of mucus up after blowing the balloons up!
<br />Anyway I;ll stop rambling, I'm just so glad to know there are other ppl out there in our boat!
G
Gramma58
Guest
My 15 month old grandson was diagnosed through newborn screening with s1235r and r785x from his mother and r117h from his father. He is well, has no symptoms, is pancreatic sufficient, 24 on sweat test, and takes no treatments of any kind. His CF doctor has changed his diagnosis to "cystic fibrosis related metabolic disorder." He is completely healthy so far. It does seem that r117h is described as usually mild, practically zero is known (it seems) about r785x, and not really much about s1235r. Any info I can find usually describes it as very mild, if disease causing at all. Hope it stays that way for all of us. He goes soon for his next cf checkup.
G
Gramma58
Guest
My 15 month old grandson was diagnosed through newborn screening with s1235r and r785x from his mother and r117h from his father. He is well, has no symptoms, is pancreatic sufficient, 24 on sweat test, and takes no treatments of any kind. His CF doctor has changed his diagnosis to "cystic fibrosis related metabolic disorder." He is completely healthy so far. It does seem that r117h is described as usually mild, practically zero is known (it seems) about r785x, and not really much about s1235r. Any info I can find usually describes it as very mild, if disease causing at all. Hope it stays that way for all of us. He goes soon for his next cf checkup.
G
Gramma58
Guest
My 15 month old grandson was diagnosed through newborn screening with s1235r and r785x from his mother and r117h from his father. He is well, has no symptoms, is pancreatic sufficient, 24 on sweat test, and takes no treatments of any kind. His CF doctor has changed his diagnosis to "cystic fibrosis related metabolic disorder." He is completely healthy so far. It does seem that r117h is described as usually mild, practically zero is known (it seems) about r785x, and not really much about s1235r. Any info I can find usually describes it as very mild, if disease causing at all. Hope it stays that way for all of us. He goes soon for his next cf checkup.
Kathy, When was the sweat test performed? I had Isaac's done again at age 2 because I heard they are more effective then. He scored the same as he did when he was 3 months old...an 11 on both arms. Was a 24 considered positive as a newborn - i can't remember the cut offs?
Yes, Isaac does not technically have a cf diagnosis because of his lack of positive sweat test, no symptoms, negative newborn screen, etc. etc. But we just keep that info behind closed doors though as we don't want insurance to balk at our choice to have him followed as if he has cf. He takes ADEKs (never showed malabsortpion probs but we figure it can't hurt), does Vest preventatively and goes on abx after 4 days of coughing with chest cold.
Does your gs culture anything? Isaac is MRSA positive in his throat. This is NOT presently on the list of cf symptoms of cf. Please keep us posted - perhaps in a seperate thread - about what gains for your dear sweet grand son come of having the CFMD diagnosis. IMHO it's just a cost preventative method of insurance codes to slap a DENIAL on charges that come through. Not what this momma with cf herself needs AT ALL! God knows I have enough paperwork to deal with already!
Yes, Isaac does not technically have a cf diagnosis because of his lack of positive sweat test, no symptoms, negative newborn screen, etc. etc. But we just keep that info behind closed doors though as we don't want insurance to balk at our choice to have him followed as if he has cf. He takes ADEKs (never showed malabsortpion probs but we figure it can't hurt), does Vest preventatively and goes on abx after 4 days of coughing with chest cold.
Does your gs culture anything? Isaac is MRSA positive in his throat. This is NOT presently on the list of cf symptoms of cf. Please keep us posted - perhaps in a seperate thread - about what gains for your dear sweet grand son come of having the CFMD diagnosis. IMHO it's just a cost preventative method of insurance codes to slap a DENIAL on charges that come through. Not what this momma with cf herself needs AT ALL! God knows I have enough paperwork to deal with already!
Kathy, When was the sweat test performed? I had Isaac's done again at age 2 because I heard they are more effective then. He scored the same as he did when he was 3 months old...an 11 on both arms. Was a 24 considered positive as a newborn - i can't remember the cut offs?
Yes, Isaac does not technically have a cf diagnosis because of his lack of positive sweat test, no symptoms, negative newborn screen, etc. etc. But we just keep that info behind closed doors though as we don't want insurance to balk at our choice to have him followed as if he has cf. He takes ADEKs (never showed malabsortpion probs but we figure it can't hurt), does Vest preventatively and goes on abx after 4 days of coughing with chest cold.
Does your gs culture anything? Isaac is MRSA positive in his throat. This is NOT presently on the list of cf symptoms of cf. Please keep us posted - perhaps in a seperate thread - about what gains for your dear sweet grand son come of having the CFMD diagnosis. IMHO it's just a cost preventative method of insurance codes to slap a DENIAL on charges that come through. Not what this momma with cf herself needs AT ALL! God knows I have enough paperwork to deal with already!
Yes, Isaac does not technically have a cf diagnosis because of his lack of positive sweat test, no symptoms, negative newborn screen, etc. etc. But we just keep that info behind closed doors though as we don't want insurance to balk at our choice to have him followed as if he has cf. He takes ADEKs (never showed malabsortpion probs but we figure it can't hurt), does Vest preventatively and goes on abx after 4 days of coughing with chest cold.
Does your gs culture anything? Isaac is MRSA positive in his throat. This is NOT presently on the list of cf symptoms of cf. Please keep us posted - perhaps in a seperate thread - about what gains for your dear sweet grand son come of having the CFMD diagnosis. IMHO it's just a cost preventative method of insurance codes to slap a DENIAL on charges that come through. Not what this momma with cf herself needs AT ALL! God knows I have enough paperwork to deal with already!