Grandson just diagnosed with CF

[kabowser]

My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD says this is "very rare", and will need to do further testing to determine if 5T or 7T.

I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.

Ally

 

[kabowser]

My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD says this is "very rare", and will need to do further testing to determine if 5T or 7T.

I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.

Ally

 

[kabowser]

My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD says this is "very rare", and will need to do further testing to determine if 5T or 7T.

I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.

Ally

 

[kabowser]

My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD says this is "very rare", and will need to do further testing to determine if 5T or 7T.

I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.

Ally

 

[kabowser]

My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD says this is "very rare", and will need to do further testing to determine if 5T or 7T.

I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.

Ally

 

[Alyssa]

Hi Ally,

If I'm not mistaken we have one man on this site who has double R117h - I think they found it when testing his child (he too got tested) Hopefully he will see your post and post if I'm correct.

My kids have one R117H and the other one is the DeltaF508.

The R117H is a class 4 gene, so it is considered a more mild category since it usually means the chloride channels function pretty close to normal. Finding out if he has 5T or 7T will also be helpful - in theory the higher the number, the less impairment and the better function you should have. I'm thinking there may also be a 9T too, but perhaps I'm mistaken about that or it is only in the DeltaF508.

You are far from alone in having no family history -- that is usually the case with nearly everyone -- total shock and surprise!

Is your grandson showing any CF symptoms? People's cases of CF are all so different -- and especially with him having both genes the R117H I'm guessing the doctors are already telling you he most likely will be a a-typical CF case?

If you have time, check out the first entry of my blog page - it talks about my kids, their mutations and their medical history with CF. The link is below in my signature line.

Welcome to the site!

 

[Alyssa]

Hi Ally,

If I'm not mistaken we have one man on this site who has double R117h - I think they found it when testing his child (he too got tested) Hopefully he will see your post and post if I'm correct.

My kids have one R117H and the other one is the DeltaF508.

The R117H is a class 4 gene, so it is considered a more mild category since it usually means the chloride channels function pretty close to normal. Finding out if he has 5T or 7T will also be helpful - in theory the higher the number, the less impairment and the better function you should have. I'm thinking there may also be a 9T too, but perhaps I'm mistaken about that or it is only in the DeltaF508.

You are far from alone in having no family history -- that is usually the case with nearly everyone -- total shock and surprise!

Is your grandson showing any CF symptoms? People's cases of CF are all so different -- and especially with him having both genes the R117H I'm guessing the doctors are already telling you he most likely will be a a-typical CF case?

If you have time, check out the first entry of my blog page - it talks about my kids, their mutations and their medical history with CF. The link is below in my signature line.

Welcome to the site!

 

[Alyssa]

Hi Ally,

If I'm not mistaken we have one man on this site who has double R117h - I think they found it when testing his child (he too got tested) Hopefully he will see your post and post if I'm correct.

My kids have one R117H and the other one is the DeltaF508.

The R117H is a class 4 gene, so it is considered a more mild category since it usually means the chloride channels function pretty close to normal. Finding out if he has 5T or 7T will also be helpful - in theory the higher the number, the less impairment and the better function you should have. I'm thinking there may also be a 9T too, but perhaps I'm mistaken about that or it is only in the DeltaF508.

You are far from alone in having no family history -- that is usually the case with nearly everyone -- total shock and surprise!

Is your grandson showing any CF symptoms? People's cases of CF are all so different -- and especially with him having both genes the R117H I'm guessing the doctors are already telling you he most likely will be a a-typical CF case?

If you have time, check out the first entry of my blog page - it talks about my kids, their mutations and their medical history with CF. The link is below in my signature line.

Welcome to the site!

 

[Alyssa]

Hi Ally,

If I'm not mistaken we have one man on this site who has double R117h - I think they found it when testing his child (he too got tested) Hopefully he will see your post and post if I'm correct.

My kids have one R117H and the other one is the DeltaF508.

The R117H is a class 4 gene, so it is considered a more mild category since it usually means the chloride channels function pretty close to normal. Finding out if he has 5T or 7T will also be helpful - in theory the higher the number, the less impairment and the better function you should have. I'm thinking there may also be a 9T too, but perhaps I'm mistaken about that or it is only in the DeltaF508.

You are far from alone in having no family history -- that is usually the case with nearly everyone -- total shock and surprise!

Is your grandson showing any CF symptoms? People's cases of CF are all so different -- and especially with him having both genes the R117H I'm guessing the doctors are already telling you he most likely will be a a-typical CF case?

If you have time, check out the first entry of my blog page - it talks about my kids, their mutations and their medical history with CF. The link is below in my signature line.

Welcome to the site!

 

[Alyssa]

Hi Ally,

If I'm not mistaken we have one man on this site who has double R117h - I think they found it when testing his child (he too got tested) Hopefully he will see your post and post if I'm correct.

My kids have one R117H and the other one is the DeltaF508.

The R117H is a class 4 gene, so it is considered a more mild category since it usually means the chloride channels function pretty close to normal. Finding out if he has 5T or 7T will also be helpful - in theory the higher the number, the less impairment and the better function you should have. I'm thinking there may also be a 9T too, but perhaps I'm mistaken about that or it is only in the DeltaF508.

You are far from alone in having no family history -- that is usually the case with nearly everyone -- total shock and surprise!

Is your grandson showing any CF symptoms? People's cases of CF are all so different -- and especially with him having both genes the R117H I'm guessing the doctors are already telling you he most likely will be a a-typical CF case?

If you have time, check out the first entry of my blog page - it talks about my kids, their mutations and their medical history with CF. The link is below in my signature line.

Welcome to the site!

 

[Alyssa]

I found him! It's Craig (user name <b>dyza</b> )

Here is a link to an old post --
<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=1881&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

he writes:
..... I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.

---------

So Ally -- there may be some question as to whether or not your grandson will develop symptoms (unless of course he already has) but using Craig as an example, he obviously (had) his vas deferens intact prior to the vasectomy and is not showing any CF symptoms and was not given the CF diagnosis.

Another thing to clarify is if both genes are occupying the same space so to speak -- I don't remember the technical term but there are rare cases where a person has two CF genes on one side of the DNA strand and a normal gene on the other so they are given only the carrier status -- something to ask the doctor about I'm sure. Hopefully there is someone here who can explain it better than me

 

[Alyssa]

I found him! It's Craig (user name <b>dyza</b> )

Here is a link to an old post --
<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=1881&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

he writes:
..... I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.

---------

So Ally -- there may be some question as to whether or not your grandson will develop symptoms (unless of course he already has) but using Craig as an example, he obviously (had) his vas deferens intact prior to the vasectomy and is not showing any CF symptoms and was not given the CF diagnosis.

Another thing to clarify is if both genes are occupying the same space so to speak -- I don't remember the technical term but there are rare cases where a person has two CF genes on one side of the DNA strand and a normal gene on the other so they are given only the carrier status -- something to ask the doctor about I'm sure. Hopefully there is someone here who can explain it better than me

 

[Alyssa]

I found him! It's Craig (user name <b>dyza</b> )

Here is a link to an old post --
<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=1881&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

he writes:
..... I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.

---------

So Ally -- there may be some question as to whether or not your grandson will develop symptoms (unless of course he already has) but using Craig as an example, he obviously (had) his vas deferens intact prior to the vasectomy and is not showing any CF symptoms and was not given the CF diagnosis.

Another thing to clarify is if both genes are occupying the same space so to speak -- I don't remember the technical term but there are rare cases where a person has two CF genes on one side of the DNA strand and a normal gene on the other so they are given only the carrier status -- something to ask the doctor about I'm sure. Hopefully there is someone here who can explain it better than me

 

[Alyssa]

I found him! It's Craig (user name <b>dyza</b> )

Here is a link to an old post --
<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=1881&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

he writes:
..... I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.

---------

So Ally -- there may be some question as to whether or not your grandson will develop symptoms (unless of course he already has) but using Craig as an example, he obviously (had) his vas deferens intact prior to the vasectomy and is not showing any CF symptoms and was not given the CF diagnosis.

Another thing to clarify is if both genes are occupying the same space so to speak -- I don't remember the technical term but there are rare cases where a person has two CF genes on one side of the DNA strand and a normal gene on the other so they are given only the carrier status -- something to ask the doctor about I'm sure. Hopefully there is someone here who can explain it better than me

 

[Alyssa]

I found him! It's Craig (user name <b>dyza</b> )

Here is a link to an old post --
<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=1881&highlight_key=y
">http://forums.cysticfibrosis.c...highlight_key=y
</a>

he writes:
..... I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.

---------

So Ally -- there may be some question as to whether or not your grandson will develop symptoms (unless of course he already has) but using Craig as an example, he obviously (had) his vas deferens intact prior to the vasectomy and is not showing any CF symptoms and was not given the CF diagnosis.

Another thing to clarify is if both genes are occupying the same space so to speak -- I don't remember the technical term but there are rare cases where a person has two CF genes on one side of the DNA strand and a normal gene on the other so they are given only the carrier status -- something to ask the doctor about I'm sure. Hopefully there is someone here who can explain it better than me

 

[kabowser]

Thanks for your response Alyssa. My grandson, Hayden, is asymptomatice as far as I can tell without specific testing. He is up to 10.2 lbs from a birth weight of 8.7 lbs on Dec. 5th. (includes a drop in weight just after birth to 8.2 lbs). He was sent for a Sweat Test only because of the presence of the two mutations which just happen to be the same allele.

Further testing is scheduled for Monday, December 31st, which I believe will determine 5T, 7T, 9T.

Ally

 

[kabowser]

Thanks for your response Alyssa. My grandson, Hayden, is asymptomatice as far as I can tell without specific testing. He is up to 10.2 lbs from a birth weight of 8.7 lbs on Dec. 5th. (includes a drop in weight just after birth to 8.2 lbs). He was sent for a Sweat Test only because of the presence of the two mutations which just happen to be the same allele.

Further testing is scheduled for Monday, December 31st, which I believe will determine 5T, 7T, 9T.

Ally

 

[kabowser]

Thanks for your response Alyssa. My grandson, Hayden, is asymptomatice as far as I can tell without specific testing. He is up to 10.2 lbs from a birth weight of 8.7 lbs on Dec. 5th. (includes a drop in weight just after birth to 8.2 lbs). He was sent for a Sweat Test only because of the presence of the two mutations which just happen to be the same allele.

Further testing is scheduled for Monday, December 31st, which I believe will determine 5T, 7T, 9T.

Ally

 

[kabowser]

Thanks for your response Alyssa. My grandson, Hayden, is asymptomatice as far as I can tell without specific testing. He is up to 10.2 lbs from a birth weight of 8.7 lbs on Dec. 5th. (includes a drop in weight just after birth to 8.2 lbs). He was sent for a Sweat Test only because of the presence of the two mutations which just happen to be the same allele.

Further testing is scheduled for Monday, December 31st, which I believe will determine 5T, 7T, 9T.

Ally

 

[kabowser]

Thanks for your response Alyssa. My grandson, Hayden, is asymptomatice as far as I can tell without specific testing. He is up to 10.2 lbs from a birth weight of 8.7 lbs on Dec. 5th. (includes a drop in weight just after birth to 8.2 lbs). He was sent for a Sweat Test only because of the presence of the two mutations which just happen to be the same allele.

Further testing is scheduled for Monday, December 31st, which I believe will determine 5T, 7T, 9T.

Ally