Delta i507

NoExcuses

New member
Anyone have Delta i507 as one of their CF mutations.

I posted on the Adults section, but no one has it. Wondering if any of the teens do <img src="i/expressions/face-icon-small-smile.gif" border="0">

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

David001

New member
Hi. My daughter was originally incorrectly diagnosed as heterozygotic Delta F-508 sixteen years ago. Ten years ago the dna sequence was reanalyzed, and we were told that she is Delta-F-508 and Delta-I-507. From what I've read, though, it looks like the clinical picture is largely the same.
 

David001

New member
Hi. My daughter was originally incorrectly diagnosed as heterozygotic Delta F-508 sixteen years ago. Ten years ago the dna sequence was reanalyzed, and we were told that she is Delta-F-508 and Delta-I-507. From what I've read, though, it looks like the clinical picture is largely the same.
 

David001

New member
Hi. My daughter was originally incorrectly diagnosed as heterozygotic Delta F-508 sixteen years ago. Ten years ago the dna sequence was reanalyzed, and we were told that she is Delta-F-508 and Delta-I-507. From what I've read, though, it looks like the clinical picture is largely the same.
 

NoExcuses

New member
hi david. looks like your daughter and i have the same 2 mutations.

clinical picture varies dramatically even with people with the same mutations. I know people with double DF508 who are in their 40s and I know kids before their teens that are in need of lung transplants.

so much goes into CF aside from genes.

how is your daughter doing? how old is she?
 

NoExcuses

New member
hi david. looks like your daughter and i have the same 2 mutations.

clinical picture varies dramatically even with people with the same mutations. I know people with double DF508 who are in their 40s and I know kids before their teens that are in need of lung transplants.

so much goes into CF aside from genes.

how is your daughter doing? how old is she?
 

NoExcuses

New member
hi david. looks like your daughter and i have the same 2 mutations.

clinical picture varies dramatically even with people with the same mutations. I know people with double DF508 who are in their 40s and I know kids before their teens that are in need of lung transplants.

so much goes into CF aside from genes.

how is your daughter doing? how old is she?
 

meNdanny

New member
Hi,
It looks like I'm responding to a really old post, but my husband and I just found out that we're both carriers for CF and if we had kids, they'd maybe have the same mutations as you. We're still trying to sort out what to do, but I'm wondering if you could tell me a little more about it. Why is the type of mutation important? What has your life with CF been like? Is it better to have two different mutations or two of the same kind?
Thanks for the help.
 

meNdanny

New member
Hi,
It looks like I'm responding to a really old post, but my husband and I just found out that we're both carriers for CF and if we had kids, they'd maybe have the same mutations as you. We're still trying to sort out what to do, but I'm wondering if you could tell me a little more about it. Why is the type of mutation important? What has your life with CF been like? Is it better to have two different mutations or two of the same kind?
Thanks for the help.
 

meNdanny

New member
Hi,
It looks like I'm responding to a really old post, but my husband and I just found out that we're both carriers for CF and if we had kids, they'd maybe have the same mutations as you. We're still trying to sort out what to do, but I'm wondering if you could tell me a little more about it. Why is the type of mutation important? What has your life with CF been like? Is it better to have two different mutations or two of the same kind?
Thanks for the help.
 

meNdanny

New member
Hi,
It looks like I'm responding to a really old post, but my husband and I just found out that we're both carriers for CF and if we had kids, they'd maybe have the same mutations as you. We're still trying to sort out what to do, but I'm wondering if you could tell me a little more about it. Why is the type of mutation important? What has your life with CF been like? Is it better to have two different mutations or two of the same kind?
Thanks for the help.
 

meNdanny

New member
Hi,
It looks like I'm responding to a really old post, but my husband and I just found out that we're both carriers for CF and if we had kids, they'd maybe have the same mutations as you. We're still trying to sort out what to do, but I'm wondering if you could tell me a little more about it. Why is the type of mutation important? What has your life with CF been like? Is it better to have two different mutations or two of the same kind?
Thanks for the help.
 

David001

New member
Sorry for the LONG delay in responding. My daughter is almost 18 and soon to leave for college. She has been in very good health and very active. She has lettered in swimming all 4 years of high school and plans to compete in college as long as she is able.

As to the question by meNdanny - there are some mutations of the CF gene that are less serious, but the delta-508 and I509 are not among those. Many, many things affect disease progression. Genetics is part of it (both the specific CF gene and modifier genes). "Luck" is part of it - what bacteria you happen to be exposed to. But of the things we can control, I think three things are key: nutrition, being rigorous in following treatment, and basic sanitary precautions (e.g., people with CF should be careful of the possibility of cross contamination). We've been fortunate - only one hospitalization so far - but we know things can take a turn for the worse at any time, and we don't have any illusions about the long term prognosis. But, we live every day to the full, make treatments part of the routine, and keep things in perspective.
 

David001

New member
Sorry for the LONG delay in responding. My daughter is almost 18 and soon to leave for college. She has been in very good health and very active. She has lettered in swimming all 4 years of high school and plans to compete in college as long as she is able.

As to the question by meNdanny - there are some mutations of the CF gene that are less serious, but the delta-508 and I509 are not among those. Many, many things affect disease progression. Genetics is part of it (both the specific CF gene and modifier genes). "Luck" is part of it - what bacteria you happen to be exposed to. But of the things we can control, I think three things are key: nutrition, being rigorous in following treatment, and basic sanitary precautions (e.g., people with CF should be careful of the possibility of cross contamination). We've been fortunate - only one hospitalization so far - but we know things can take a turn for the worse at any time, and we don't have any illusions about the long term prognosis. But, we live every day to the full, make treatments part of the routine, and keep things in perspective.
 

David001

New member
Sorry for the LONG delay in responding. My daughter is almost 18 and soon to leave for college. She has been in very good health and very active. She has lettered in swimming all 4 years of high school and plans to compete in college as long as she is able.

As to the question by meNdanny - there are some mutations of the CF gene that are less serious, but the delta-508 and I509 are not among those. Many, many things affect disease progression. Genetics is part of it (both the specific CF gene and modifier genes). "Luck" is part of it - what bacteria you happen to be exposed to. But of the things we can control, I think three things are key: nutrition, being rigorous in following treatment, and basic sanitary precautions (e.g., people with CF should be careful of the possibility of cross contamination). We've been fortunate - only one hospitalization so far - but we know things can take a turn for the worse at any time, and we don't have any illusions about the long term prognosis. But, we live every day to the full, make treatments part of the routine, and keep things in perspective.
 

David001

New member
Sorry for the LONG delay in responding. My daughter is almost 18 and soon to leave for college. She has been in very good health and very active. She has lettered in swimming all 4 years of high school and plans to compete in college as long as she is able.

As to the question by meNdanny - there are some mutations of the CF gene that are less serious, but the delta-508 and I509 are not among those. Many, many things affect disease progression. Genetics is part of it (both the specific CF gene and modifier genes). "Luck" is part of it - what bacteria you happen to be exposed to. But of the things we can control, I think three things are key: nutrition, being rigorous in following treatment, and basic sanitary precautions (e.g., people with CF should be careful of the possibility of cross contamination). We've been fortunate - only one hospitalization so far - but we know things can take a turn for the worse at any time, and we don't have any illusions about the long term prognosis. But, we live every day to the full, make treatments part of the routine, and keep things in perspective.
 

David001

New member
Sorry for the LONG delay in responding. My daughter is almost 18 and soon to leave for college. She has been in very good health and very active. She has lettered in swimming all 4 years of high school and plans to compete in college as long as she is able.
<br />
<br />As to the question by meNdanny - there are some mutations of the CF gene that are less serious, but the delta-508 and I509 are not among those. Many, many things affect disease progression. Genetics is part of it (both the specific CF gene and modifier genes). "Luck" is part of it - what bacteria you happen to be exposed to. But of the things we can control, I think three things are key: nutrition, being rigorous in following treatment, and basic sanitary precautions (e.g., people with CF should be careful of the possibility of cross contamination). We've been fortunate - only one hospitalization so far - but we know things can take a turn for the worse at any time, and we don't have any illusions about the long term prognosis. But, we live every day to the full, make treatments part of the routine, and keep things in perspective.
 

Rachie

New member
I also was misdiagnosed as ddf508 I have just found out I am actually i507del df508. So am actually heterozygous. These results came back to me the week before I was due to start the vertex combo trial, which I have been following for years. Utterly devastated. Any more info on this gene would be greatly appreciated. Ps I am 35 and have an fev1 of 45%.
 
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