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in reference to urgent message to worried grandma and candi81
- Thread starter katzyloo
- Start date
f508 and C2657+2_2657+3insA
Only features, i believe, from previous studies was men going for infertility treatment and thats when it was discovered. until then the sample hadnt had any lungs or digestive problems, but it was a novel group out of the entire sample size. my worry is what happened to these patients in later life and did they have any lungs complications.
Only features, i believe, from previous studies was men going for infertility treatment and thats when it was discovered. until then the sample hadnt had any lungs or digestive problems, but it was a novel group out of the entire sample size. my worry is what happened to these patients in later life and did they have any lungs complications.
f508 and C2657+2_2657+3insA
Only features, i believe, from previous studies was men going for infertility treatment and thats when it was discovered. until then the sample hadnt had any lungs or digestive problems, but it was a novel group out of the entire sample size. my worry is what happened to these patients in later life and did they have any lungs complications.
Only features, i believe, from previous studies was men going for infertility treatment and thats when it was discovered. until then the sample hadnt had any lungs or digestive problems, but it was a novel group out of the entire sample size. my worry is what happened to these patients in later life and did they have any lungs complications.
f508 and C2657+2_2657+3insA
<br />
<br />Only features, i believe, from previous studies was men going for infertility treatment and thats when it was discovered. until then the sample hadnt had any lungs or digestive problems, but it was a novel group out of the entire sample size. my worry is what happened to these patients in later life and did they have any lungs complications.
<br />
<br />Only features, i believe, from previous studies was men going for infertility treatment and thats when it was discovered. until then the sample hadnt had any lungs or digestive problems, but it was a novel group out of the entire sample size. my worry is what happened to these patients in later life and did they have any lungs complications.
twodogstudio2
New member
I think there is so little data on the rarer mutations like your second one and the variability among CFers is so great you cannot take chances. When our second one came with 2789+5 G>A I had been excited about the possibity of our child having a "mild" mutation. When I asked our doctor about how this gene affected prognossis he did not even hesitate "no effects on prognosis". Now I am not sure every clinician would agree but I have come to appreciate this attitude and do all treatments exactly to the letter even though we have experienced no lung involvement to this point at age 9.
twodogstudio2
New member
I think there is so little data on the rarer mutations like your second one and the variability among CFers is so great you cannot take chances. When our second one came with 2789+5 G>A I had been excited about the possibity of our child having a "mild" mutation. When I asked our doctor about how this gene affected prognossis he did not even hesitate "no effects on prognosis". Now I am not sure every clinician would agree but I have come to appreciate this attitude and do all treatments exactly to the letter even though we have experienced no lung involvement to this point at age 9.
twodogstudio2
New member
I think there is so little data on the rarer mutations like your second one and the variability among CFers is so great you cannot take chances. When our second one came with 2789+5 G>A I had been excited about the possibity of our child having a "mild" mutation. When I asked our doctor about how this gene affected prognossis he did not even hesitate "no effects on prognosis". Now I am not sure every clinician would agree but I have come to appreciate this attitude and do all treatments exactly to the letter even though we have experienced no lung involvement to this point at age 9.
SIX MONTHS OLD and withdrawing a dx based on no symptoms to date? I'd venture to guess a large proportion of people here on this website here were quite healthy at age 6mo, even with known, disease causing mutations! <img src="i/expressions/face-icon-small-shocked.gif" border="0"> This really, really upsets me!
What was his sweat test result?
What was his sweat test result?
SIX MONTHS OLD and withdrawing a dx based on no symptoms to date? I'd venture to guess a large proportion of people here on this website here were quite healthy at age 6mo, even with known, disease causing mutations! <img src="i/expressions/face-icon-small-shocked.gif" border="0"> This really, really upsets me!
What was his sweat test result?
What was his sweat test result?
SIX MONTHS OLD and withdrawing a dx based on no symptoms to date? I'd venture to guess a large proportion of people here on this website here were quite healthy at age 6mo, even with known, disease causing mutations! <img src="i/expressions/face-icon-small-shocked.gif" border="0"> This really, really upsets me!
<br />
<br />What was his sweat test result?
<br />
<br />What was his sweat test result?
M
Mommafirst
Guest
For what its worth -- my daughter has one well known severe mutation, and one rare mutation. Research on this rare mutation calls it NOVEL and indicates the "Possibility" of just absence of the vas deferens. HOwever, my daughter is 5. Since age one she has done 4 rounds of IV abx, has a feeding tube despite being pancreatic sufficient, and has x-rays that indicate "peribronchial thickening". Despite the lack of research on her mutation and the speculation that this mutation is one that might not present typically, she has CF, is treated for having CF and will continue to be.
M
Mommafirst
Guest
For what its worth -- my daughter has one well known severe mutation, and one rare mutation. Research on this rare mutation calls it NOVEL and indicates the "Possibility" of just absence of the vas deferens. HOwever, my daughter is 5. Since age one she has done 4 rounds of IV abx, has a feeding tube despite being pancreatic sufficient, and has x-rays that indicate "peribronchial thickening". Despite the lack of research on her mutation and the speculation that this mutation is one that might not present typically, she has CF, is treated for having CF and will continue to be.
M
Mommafirst
Guest
For what its worth -- my daughter has one well known severe mutation, and one rare mutation. Research on this rare mutation calls it NOVEL and indicates the "Possibility" of just absence of the vas deferens. HOwever, my daughter is 5. Since age one she has done 4 rounds of IV abx, has a feeding tube despite being pancreatic sufficient, and has x-rays that indicate "peribronchial thickening". Despite the lack of research on her mutation and the speculation that this mutation is one that might not present typically, she has CF, is treated for having CF and will continue to be.
There is a case hx on the Hopkins database of a man dx'ed in his early 30's with this combo of mutations. He has a hx of cbavd, pancreatitis, sinusitis, colonization with pseudomonas and positive sweat test.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cfgenotyping/DB%20main.htm#db2">Hopkins database of 'non-classic' mutations</a>
eta> you can find it under "2789+2insA", the legacy name for C2657+2_2657+3insA.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cfgenotyping/DB%20main.htm#db2">Hopkins database of 'non-classic' mutations</a>
eta> you can find it under "2789+2insA", the legacy name for C2657+2_2657+3insA.
There is a case hx on the Hopkins database of a man dx'ed in his early 30's with this combo of mutations. He has a hx of cbavd, pancreatitis, sinusitis, colonization with pseudomonas and positive sweat test.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cfgenotyping/DB%20main.htm#db2">Hopkins database of 'non-classic' mutations</a>
eta> you can find it under "2789+2insA", the legacy name for C2657+2_2657+3insA.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cfgenotyping/DB%20main.htm#db2">Hopkins database of 'non-classic' mutations</a>
eta> you can find it under "2789+2insA", the legacy name for C2657+2_2657+3insA.
There is a case hx on the Hopkins database of a man dx'ed in his early 30's with this combo of mutations. He has a hx of cbavd, pancreatitis, sinusitis, colonization with pseudomonas and positive sweat test.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cfgenotyping/DB%20main.htm#db2">Hopkins database of 'non-classic' mutations</a>
<br />
<br />eta> you can find it under "2789+2insA", the legacy name for C2657+2_2657+3insA.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cfgenotyping/DB%20main.htm#db2">Hopkins database of 'non-classic' mutations</a>
<br />
<br />eta> you can find it under "2789+2insA", the legacy name for C2657+2_2657+3insA.
HMW, could you elaborate as this is still on new to me. how reliable is this source? and where did it originate. is it something i can buy/ download as it may be helpful to show it to my consultant. i feel as though he has not done any background research.
and previous question about my sons sweat test results was 75.
thank everyone i really appreciate all this information and advice.
and previous question about my sons sweat test results was 75.
thank everyone i really appreciate all this information and advice.
HMW, could you elaborate as this is still on new to me. how reliable is this source? and where did it originate. is it something i can buy/ download as it may be helpful to show it to my consultant. i feel as though he has not done any background research.
and previous question about my sons sweat test results was 75.
thank everyone i really appreciate all this information and advice.
and previous question about my sons sweat test results was 75.
thank everyone i really appreciate all this information and advice.
HMW, could you elaborate as this is still on new to me. how reliable is this source? and where did it originate. is it something i can buy/ download as it may be helpful to show it to my consultant. i feel as though he has not done any background research.
<br />
<br />and previous question about my sons sweat test results was 75.
<br />
<br />thank everyone i really appreciate all this information and advice.
<br />
<br />and previous question about my sons sweat test results was 75.
<br />
<br />thank everyone i really appreciate all this information and advice.
I apologize if this was already answered, but are you receiving care (or lack of it) from a CF clinic? Perhaps it is time to look for new doctors who are willing to treat your son for what (in my mind) is clearly CF so that he WILL stay healthy and symptom-free for as long as possible.
I was almost entirely symptom-free until my early teenage years. I was pancreatic sufficient, never had anything worse than a cold, had PFTs over 100%, no sinus issues or digestive issues or anything else associated with CF. The only reason I was tested/diagnosed (with a positive sweat test and 1 mutation at the time, since then the second has been found) is because my sister also had CF.
I was almost entirely symptom-free until my early teenage years. I was pancreatic sufficient, never had anything worse than a cold, had PFTs over 100%, no sinus issues or digestive issues or anything else associated with CF. The only reason I was tested/diagnosed (with a positive sweat test and 1 mutation at the time, since then the second has been found) is because my sister also had CF.