Testing Results Back

flatfordl · Nov 21, 2008

My son is a carrier and his sweat test came back borderline high. The docs did not diagnose him with CF. But also did not do any other testing.

Here is my question can two siblings with CF have two different mutations? My daughter is Double deltaf508, if my son had cf would he have the same mutations?

He has no symptoms except that he is very small (not labeled failure to thrive though). My husband and I are both above average in height and average in weight. I really thought our son would be that way too. Believe it or not my daughter (with CF) has higher weight and height percentages than our son.

Anyway, I am not worried just curious.

Lynsey

flatfordl · Nov 21, 2008

My son is a carrier and his sweat test came back borderline high. The docs did not diagnose him with CF. But also did not do any other testing.

Here is my question can two siblings with CF have two different mutations? My daughter is Double deltaf508, if my son had cf would he have the same mutations?

He has no symptoms except that he is very small (not labeled failure to thrive though). My husband and I are both above average in height and average in weight. I really thought our son would be that way too. Believe it or not my daughter (with CF) has higher weight and height percentages than our son.

Anyway, I am not worried just curious.

Lynsey

flatfordl · Nov 21, 2008

My son is a carrier and his sweat test came back borderline high. The docs did not diagnose him with CF. But also did not do any other testing.

Here is my question can two siblings with CF have two different mutations? My daughter is Double deltaf508, if my son had cf would he have the same mutations?

He has no symptoms except that he is very small (not labeled failure to thrive though). My husband and I are both above average in height and average in weight. I really thought our son would be that way too. Believe it or not my daughter (with CF) has higher weight and height percentages than our son.

Anyway, I am not worried just curious.

Lynsey

flatfordl · Nov 21, 2008

My son is a carrier and his sweat test came back borderline high. The docs did not diagnose him with CF. But also did not do any other testing.

Here is my question can two siblings with CF have two different mutations? My daughter is Double deltaf508, if my son had cf would he have the same mutations?

He has no symptoms except that he is very small (not labeled failure to thrive though). My husband and I are both above average in height and average in weight. I really thought our son would be that way too. Believe it or not my daughter (with CF) has higher weight and height percentages than our son.

Anyway, I am not worried just curious.

Lynsey

flatfordl · Nov 21, 2008

My son is a carrier and his sweat test came back borderline high. The docs did not diagnose him with CF. But also did not do any other testing.
 
 Here is my question can two siblings with CF have two different mutations? My daughter is Double deltaf508, if my son had cf would he have the same mutations?
 
 He has no symptoms except that he is very small (not labeled failure to thrive though). My husband and I are both above average in height and average in weight. I really thought our son would be that way too. Believe it or not my daughter (with CF) has higher weight and height percentages than our son.
 
 Anyway, I am not worried just curious.
 
 Lynsey

Juliet · Nov 21, 2008

As you mentioned the genetic test was only looking for 23 of the most common mutations. There are over 1600 known mutations which can cause CF. One of my sweat tests in 2006 was 40. My genetic testing turned up 3 mutations (2 on one chromosome, 1 on the other). One is common (DF508), one has only ever been seen once before, and I was the trailblazer for the third Mutation. So far only me and my daughter (carrier) have that baby. <img src="i/expressions/face-icon-small-wink.gif" border="0"> Diagnosing with sweat tests, screening tests and via symptoms is inexact IMHO. ~Juliet

Juliet · Nov 21, 2008

As you mentioned the genetic test was only looking for 23 of the most common mutations. There are over 1600 known mutations which can cause CF. One of my sweat tests in 2006 was 40. My genetic testing turned up 3 mutations (2 on one chromosome, 1 on the other). One is common (DF508), one has only ever been seen once before, and I was the trailblazer for the third Mutation. So far only me and my daughter (carrier) have that baby. <img src="i/expressions/face-icon-small-wink.gif" border="0"> Diagnosing with sweat tests, screening tests and via symptoms is inexact IMHO. ~Juliet

Juliet · Nov 21, 2008

As you mentioned the genetic test was only looking for 23 of the most common mutations. There are over 1600 known mutations which can cause CF. One of my sweat tests in 2006 was 40. My genetic testing turned up 3 mutations (2 on one chromosome, 1 on the other). One is common (DF508), one has only ever been seen once before, and I was the trailblazer for the third Mutation. So far only me and my daughter (carrier) have that baby. <img src="i/expressions/face-icon-small-wink.gif" border="0"> Diagnosing with sweat tests, screening tests and via symptoms is inexact IMHO. ~Juliet

Juliet · Nov 21, 2008

As you mentioned the genetic test was only looking for 23 of the most common mutations. There are over 1600 known mutations which can cause CF. One of my sweat tests in 2006 was 40. My genetic testing turned up 3 mutations (2 on one chromosome, 1 on the other). One is common (DF508), one has only ever been seen once before, and I was the trailblazer for the third Mutation. So far only me and my daughter (carrier) have that baby. <img src="i/expressions/face-icon-small-wink.gif" border="0"> Diagnosing with sweat tests, screening tests and via symptoms is inexact IMHO. ~Juliet

Juliet · Nov 21, 2008

As you mentioned the genetic test was only looking for 23 of the most common mutations. There are over 1600 known mutations which can cause CF. One of my sweat tests in 2006 was 40. My genetic testing turned up 3 mutations (2 on one chromosome, 1 on the other). One is common (DF508), one has only ever been seen once before, and I was the trailblazer for the third Mutation. So far only me and my daughter (carrier) have that baby. <img src="i/expressions/face-icon-small-wink.gif" border="0"> Diagnosing with sweat tests, screening tests and via symptoms is inexact IMHO. ~Juliet

MomOfMiles · Nov 23, 2008