What does my sons results tell me?

[holmfamily1992]

Hello,

Here were the test results

CFTR Full Gene Known Mutation R117H
Novel Variants None detected
TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T

Further family testing needed....
What does the mutation tell us and What will our blood tell you?
Devos Childrens Hospitol tells me that he has Atypical CF....

Thank you, Tina

 

[holmfamily1992]

Hello,

Here were the test results

CFTR Full Gene Known Mutation R117H
Novel Variants None detected
TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T

Further family testing needed....
What does the mutation tell us and What will our blood tell you?
Devos Childrens Hospitol tells me that he has Atypical CF....

Thank you, Tina

 

[holmfamily1992]

Hello,

Here were the test results

CFTR Full Gene Known Mutation R117H
Novel Variants None detected
TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T

Further family testing needed....
What does the mutation tell us and What will our blood tell you?
Devos Childrens Hospitol tells me that he has Atypical CF....

Thank you, Tina

 

[holmfamily1992]

Hello,

Here were the test results

CFTR Full Gene Known Mutation R117H
Novel Variants None detected
TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T

Further family testing needed....
What does the mutation tell us and What will our blood tell you?
Devos Childrens Hospitol tells me that he has Atypical CF....

Thank you, Tina

 

[holmfamily1992]

Hello,
<br />
<br />Here were the test results
<br />
<br />CFTR Full Gene Known Mutation R117H
<br />Novel Variants None detected
<br />TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T
<br />
<br />Further family testing needed....
<br />What does the mutation tell us and What will our blood tell you?
<br />Devos Childrens Hospitol tells me that he has Atypical CF....
<br />
<br />Thank you, Tina

 

[pjspiegle]

I am guessing if they can figure out which gene you have and which one your husband has, it will clarifly your sons results, or the very least it should provide more information. I don't know much about A-typical CF but there are a lot of others on the site that do.
I worry when I hear things like A-typical CF though because we were told from the very beginning you either have it or you don't. Yes, everyone is different and everyone has different progressions and different healthy periods and not so healthy periods, and so on, but if you have CF you need to do your treatments regardless of whether you think you have "a little cf" or "a lot cf".
My son has both the DF508 genes, a little more common than some of the other gene types.

 

[pjspiegle]

I am guessing if they can figure out which gene you have and which one your husband has, it will clarifly your sons results, or the very least it should provide more information. I don't know much about A-typical CF but there are a lot of others on the site that do.
I worry when I hear things like A-typical CF though because we were told from the very beginning you either have it or you don't. Yes, everyone is different and everyone has different progressions and different healthy periods and not so healthy periods, and so on, but if you have CF you need to do your treatments regardless of whether you think you have "a little cf" or "a lot cf".
My son has both the DF508 genes, a little more common than some of the other gene types.

 

[pjspiegle]

I am guessing if they can figure out which gene you have and which one your husband has, it will clarifly your sons results, or the very least it should provide more information. I don't know much about A-typical CF but there are a lot of others on the site that do.
I worry when I hear things like A-typical CF though because we were told from the very beginning you either have it or you don't. Yes, everyone is different and everyone has different progressions and different healthy periods and not so healthy periods, and so on, but if you have CF you need to do your treatments regardless of whether you think you have "a little cf" or "a lot cf".
My son has both the DF508 genes, a little more common than some of the other gene types.

 

[pjspiegle]

I am guessing if they can figure out which gene you have and which one your husband has, it will clarifly your sons results, or the very least it should provide more information. I don't know much about A-typical CF but there are a lot of others on the site that do.
I worry when I hear things like A-typical CF though because we were told from the very beginning you either have it or you don't. Yes, everyone is different and everyone has different progressions and different healthy periods and not so healthy periods, and so on, but if you have CF you need to do your treatments regardless of whether you think you have "a little cf" or "a lot cf".
My son has both the DF508 genes, a little more common than some of the other gene types.

 

[pjspiegle]

I am guessing if they can figure out which gene you have and which one your husband has, it will clarifly your sons results, or the very least it should provide more information. I don't know much about A-typical CF but there are a lot of others on the site that do.
<br />I worry when I hear things like A-typical CF though because we were told from the very beginning you either have it or you don't. Yes, everyone is different and everyone has different progressions and different healthy periods and not so healthy periods, and so on, but if you have CF you need to do your treatments regardless of whether you think you have "a little cf" or "a lot cf".
<br />My son has both the DF508 genes, a little more common than some of the other gene types.
<br />

 

[peanut07]

I am sure when Steve is able to answer he will be more informative but here is my opinion.

You need family testing because if the R117H is on the same Chromosone as the 5T it makes the R117H more significant of a mutation but when combined with another. This would mean that is his only mutation and either he is a carrier or the other mutation is unidentified.

If the R117H is on the Opposite Chromosone as the 5T it means those are his 2 mutations as the 5T acts as a mild mutation and is made more moderate with the 12TG repeat.

When you and your husband are tested it will show how the arrangment is. Most likely one of you will be a carrier for the 5T and one of you will be a carrier for the R117H meaning he inherited one from each of you. If one of you have nothing and the other has the R117H and the 5T it will mean that they are on the same chromosone and he is either a carrier or has a second unidentified mutation.

Doctors often tend to look at 5T as being Atypical because there is such variability in its presentation. It is very common but presentation can range from nothing to classic it just depends.

Good Luck

 

[peanut07]

I am sure when Steve is able to answer he will be more informative but here is my opinion.

You need family testing because if the R117H is on the same Chromosone as the 5T it makes the R117H more significant of a mutation but when combined with another. This would mean that is his only mutation and either he is a carrier or the other mutation is unidentified.

If the R117H is on the Opposite Chromosone as the 5T it means those are his 2 mutations as the 5T acts as a mild mutation and is made more moderate with the 12TG repeat.

When you and your husband are tested it will show how the arrangment is. Most likely one of you will be a carrier for the 5T and one of you will be a carrier for the R117H meaning he inherited one from each of you. If one of you have nothing and the other has the R117H and the 5T it will mean that they are on the same chromosone and he is either a carrier or has a second unidentified mutation.

Doctors often tend to look at 5T as being Atypical because there is such variability in its presentation. It is very common but presentation can range from nothing to classic it just depends.

Good Luck

 

[peanut07]

I am sure when Steve is able to answer he will be more informative but here is my opinion.

You need family testing because if the R117H is on the same Chromosone as the 5T it makes the R117H more significant of a mutation but when combined with another. This would mean that is his only mutation and either he is a carrier or the other mutation is unidentified.

If the R117H is on the Opposite Chromosone as the 5T it means those are his 2 mutations as the 5T acts as a mild mutation and is made more moderate with the 12TG repeat.

When you and your husband are tested it will show how the arrangment is. Most likely one of you will be a carrier for the 5T and one of you will be a carrier for the R117H meaning he inherited one from each of you. If one of you have nothing and the other has the R117H and the 5T it will mean that they are on the same chromosone and he is either a carrier or has a second unidentified mutation.

Doctors often tend to look at 5T as being Atypical because there is such variability in its presentation. It is very common but presentation can range from nothing to classic it just depends.

Good Luck

 

[peanut07]

I am sure when Steve is able to answer he will be more informative but here is my opinion.

You need family testing because if the R117H is on the same Chromosone as the 5T it makes the R117H more significant of a mutation but when combined with another. This would mean that is his only mutation and either he is a carrier or the other mutation is unidentified.

If the R117H is on the Opposite Chromosone as the 5T it means those are his 2 mutations as the 5T acts as a mild mutation and is made more moderate with the 12TG repeat.

When you and your husband are tested it will show how the arrangment is. Most likely one of you will be a carrier for the 5T and one of you will be a carrier for the R117H meaning he inherited one from each of you. If one of you have nothing and the other has the R117H and the 5T it will mean that they are on the same chromosone and he is either a carrier or has a second unidentified mutation.

Doctors often tend to look at 5T as being Atypical because there is such variability in its presentation. It is very common but presentation can range from nothing to classic it just depends.

Good Luck

 

[peanut07]

I am sure when Steve is able to answer he will be more informative but here is my opinion.
<br />
<br />You need family testing because if the R117H is on the same Chromosone as the 5T it makes the R117H more significant of a mutation but when combined with another. This would mean that is his only mutation and either he is a carrier or the other mutation is unidentified.
<br />
<br />If the R117H is on the Opposite Chromosone as the 5T it means those are his 2 mutations as the 5T acts as a mild mutation and is made more moderate with the 12TG repeat.
<br />
<br />When you and your husband are tested it will show how the arrangment is. Most likely one of you will be a carrier for the 5T and one of you will be a carrier for the R117H meaning he inherited one from each of you. If one of you have nothing and the other has the R117H and the 5T it will mean that they are on the same chromosone and he is either a carrier or has a second unidentified mutation.
<br />
<br />Doctors often tend to look at 5T as being Atypical because there is such variability in its presentation. It is very common but presentation can range from nothing to classic it just depends.
<br />
<br />Good Luck
<br />
<br />

 

[dyza]

My boy has a RH117 (7T) and a DF508. The RH117 is a class 4 mutation and on a whole usually leads to a more sufficient pancreas funtion. Even with Craig's other mutation, he has been described also as atypical.
I also have a double RH117 (7T), found out as they tested us both to see who carried what mutation. I'm 40 and can best be described as very atypical.
Meant also to say that there was talk within the last couple of years in some european countries, I think France was one, of them taking the RH117 mutation off the list of CF causing mutations.



Craig

 

[dyza]

My boy has a RH117 (7T) and a DF508. The RH117 is a class 4 mutation and on a whole usually leads to a more sufficient pancreas funtion. Even with Craig's other mutation, he has been described also as atypical.
I also have a double RH117 (7T), found out as they tested us both to see who carried what mutation. I'm 40 and can best be described as very atypical.
Meant also to say that there was talk within the last couple of years in some european countries, I think France was one, of them taking the RH117 mutation off the list of CF causing mutations.



Craig

 

[dyza]

My boy has a RH117 (7T) and a DF508. The RH117 is a class 4 mutation and on a whole usually leads to a more sufficient pancreas funtion. Even with Craig's other mutation, he has been described also as atypical.
I also have a double RH117 (7T), found out as they tested us both to see who carried what mutation. I'm 40 and can best be described as very atypical.
Meant also to say that there was talk within the last couple of years in some european countries, I think France was one, of them taking the RH117 mutation off the list of CF causing mutations.



Craig

 

[dyza]

My boy has a RH117 (7T) and a DF508. The RH117 is a class 4 mutation and on a whole usually leads to a more sufficient pancreas funtion. Even with Craig's other mutation, he has been described also as atypical.
I also have a double RH117 (7T), found out as they tested us both to see who carried what mutation. I'm 40 and can best be described as very atypical.
Meant also to say that there was talk within the last couple of years in some european countries, I think France was one, of them taking the RH117 mutation off the list of CF causing mutations.



Craig

 

[dyza]

My boy has a RH117 (7T) and a DF508. The RH117 is a class 4 mutation and on a whole usually leads to a more sufficient pancreas funtion. Even with Craig's other mutation, he has been described also as atypical.
<br />I also have a double RH117 (7T), found out as they tested us both to see who carried what mutation. I'm 40 and can best be described as very atypical.
<br />Meant also to say that there was talk within the last couple of years in some european countries, I think France was one, of them taking the RH117 mutation off the list of CF causing mutations.
<br />
<br />
<br />
<br />Craig