Resources for atypical cases

H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>christenk</b></i>

This question is for bonniebaby-

My daughter has the same genetic combination as you (delta 508 and 5T).

I was just wondering how your physician described to you what the 5T variant is. As I understand it, the 5T variant is almost like a "mild" mutation in which there is some functioning of the CFTR gene. Is that accurate?

Thanks for your input!

Christen</end quote></div>


Yes, Christen, that is correct when the 5T has 12 or 13 repeats and is combined with a more severe mutation like DF508. I think 5T with 11 repeats is a little less significant in terms of lung involvement but you could confirm that with Steve from Ambry.
I'm unusually healthy for a CFer, I have no lung damage yet. I culture for staph aureus only and I'm pancreatic sufficient. I know of only one other person with this and she hasn't been on the site in ages. She is a year older than I am and has 4 kids (she was diagnosed at age 31 and I was dx age 36). Her health wasn't/isn't as good as mine but still good for someone this old. My sweat test was 36 and hers was 39. PM me if you want to compare notes.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>christenk</b></i>

This question is for bonniebaby-

My daughter has the same genetic combination as you (delta 508 and 5T).

I was just wondering how your physician described to you what the 5T variant is. As I understand it, the 5T variant is almost like a "mild" mutation in which there is some functioning of the CFTR gene. Is that accurate?

Thanks for your input!

Christen</end quote></div>


Yes, Christen, that is correct when the 5T has 12 or 13 repeats and is combined with a more severe mutation like DF508. I think 5T with 11 repeats is a little less significant in terms of lung involvement but you could confirm that with Steve from Ambry.
I'm unusually healthy for a CFer, I have no lung damage yet. I culture for staph aureus only and I'm pancreatic sufficient. I know of only one other person with this and she hasn't been on the site in ages. She is a year older than I am and has 4 kids (she was diagnosed at age 31 and I was dx age 36). Her health wasn't/isn't as good as mine but still good for someone this old. My sweat test was 36 and hers was 39. PM me if you want to compare notes.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>christenk</b></i>

This question is for bonniebaby-

My daughter has the same genetic combination as you (delta 508 and 5T).

I was just wondering how your physician described to you what the 5T variant is. As I understand it, the 5T variant is almost like a "mild" mutation in which there is some functioning of the CFTR gene. Is that accurate?

Thanks for your input!

Christen</end quote></div>


Yes, Christen, that is correct when the 5T has 12 or 13 repeats and is combined with a more severe mutation like DF508. I think 5T with 11 repeats is a little less significant in terms of lung involvement but you could confirm that with Steve from Ambry.
I'm unusually healthy for a CFer, I have no lung damage yet. I culture for staph aureus only and I'm pancreatic sufficient. I know of only one other person with this and she hasn't been on the site in ages. She is a year older than I am and has 4 kids (she was diagnosed at age 31 and I was dx age 36). Her health wasn't/isn't as good as mine but still good for someone this old. My sweat test was 36 and hers was 39. PM me if you want to compare notes.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>christenk</b></i>

This question is for bonniebaby-

My daughter has the same genetic combination as you (delta 508 and 5T).

I was just wondering how your physician described to you what the 5T variant is. As I understand it, the 5T variant is almost like a "mild" mutation in which there is some functioning of the CFTR gene. Is that accurate?

Thanks for your input!

Christen</end quote>


Yes, Christen, that is correct when the 5T has 12 or 13 repeats and is combined with a more severe mutation like DF508. I think 5T with 11 repeats is a little less significant in terms of lung involvement but you could confirm that with Steve from Ambry.
I'm unusually healthy for a CFer, I have no lung damage yet. I culture for staph aureus only and I'm pancreatic sufficient. I know of only one other person with this and she hasn't been on the site in ages. She is a year older than I am and has 4 kids (she was diagnosed at age 31 and I was dx age 36). Her health wasn't/isn't as good as mine but still good for someone this old. My sweat test was 36 and hers was 39. PM me if you want to compare notes.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>christenk</b></i>
<br />
<br />This question is for bonniebaby-
<br />
<br />My daughter has the same genetic combination as you (delta 508 and 5T).
<br />
<br />I was just wondering how your physician described to you what the 5T variant is. As I understand it, the 5T variant is almost like a "mild" mutation in which there is some functioning of the CFTR gene. Is that accurate?
<br />
<br />Thanks for your input!
<br />
<br />Christen</end quote>
<br />
<br />
<br />Yes, Christen, that is correct when the 5T has 12 or 13 repeats and is combined with a more severe mutation like DF508. I think 5T with 11 repeats is a little less significant in terms of lung involvement but you could confirm that with Steve from Ambry.
<br />I'm unusually healthy for a CFer, I have no lung damage yet. I culture for staph aureus only and I'm pancreatic sufficient. I know of only one other person with this and she hasn't been on the site in ages. She is a year older than I am and has 4 kids (she was diagnosed at age 31 and I was dx age 36). Her health wasn't/isn't as good as mine but still good for someone this old. My sweat test was 36 and hers was 39. PM me if you want to compare notes.
<br />
<br />
 
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