Just Beginning

[Theresa59]

THANK YOU to everyone for your advice. I just returned from the doctor's office where we got a little bit better picture of the diagnosis.

Felicity carries the DF508 gene from mom and the R117H from dad. The 26 was her sweat test result; which would have not resulted in going for the genetic test had we not already requested that they be done concurrently. They are going to test my grandson now as well and we are not wasting time with the sweat test.

We were told that there is a process in the works to lower the normal range for sweat tests to 20 due to the increasing findings of these lower level mutations.

The peds has told us that she had the results looked over by the CF Clinic in our state - other end of the state, by the way. The doctor up there wants to see and follow Felicity but feels that her prognosis is good with this odd pairing of dads very nominal gene and mom's bad one. We shall see. Basically at this point - we are alerted and will be watching and looking at preventive care.

Evidently the gene that my SIL has often does not show up as problematic until adulthood in infertility testing. Weird.

So... we will wait another 2 weeks and pray that the other shoe does not drop for Brayden. He has enough going on without adding CF to it!

Thanks again everyone...and I will be checking in.

 

[Theresa59]

THANK YOU to everyone for your advice. I just returned from the doctor's office where we got a little bit better picture of the diagnosis.

Felicity carries the DF508 gene from mom and the R117H from dad. The 26 was her sweat test result; which would have not resulted in going for the genetic test had we not already requested that they be done concurrently. They are going to test my grandson now as well and we are not wasting time with the sweat test.

We were told that there is a process in the works to lower the normal range for sweat tests to 20 due to the increasing findings of these lower level mutations.

The peds has told us that she had the results looked over by the CF Clinic in our state - other end of the state, by the way. The doctor up there wants to see and follow Felicity but feels that her prognosis is good with this odd pairing of dads very nominal gene and mom's bad one. We shall see. Basically at this point - we are alerted and will be watching and looking at preventive care.

Evidently the gene that my SIL has often does not show up as problematic until adulthood in infertility testing. Weird.

So... we will wait another 2 weeks and pray that the other shoe does not drop for Brayden. He has enough going on without adding CF to it!

Thanks again everyone...and I will be checking in.

 

[Theresa59]

THANK YOU to everyone for your advice. I just returned from the doctor's office where we got a little bit better picture of the diagnosis.

Felicity carries the DF508 gene from mom and the R117H from dad. The 26 was her sweat test result; which would have not resulted in going for the genetic test had we not already requested that they be done concurrently. They are going to test my grandson now as well and we are not wasting time with the sweat test.

We were told that there is a process in the works to lower the normal range for sweat tests to 20 due to the increasing findings of these lower level mutations.

The peds has told us that she had the results looked over by the CF Clinic in our state - other end of the state, by the way. The doctor up there wants to see and follow Felicity but feels that her prognosis is good with this odd pairing of dads very nominal gene and mom's bad one. We shall see. Basically at this point - we are alerted and will be watching and looking at preventive care.

Evidently the gene that my SIL has often does not show up as problematic until adulthood in infertility testing. Weird.

So... we will wait another 2 weeks and pray that the other shoe does not drop for Brayden. He has enough going on without adding CF to it!

Thanks again everyone...and I will be checking in.

 

[Theresa59]

THANK YOU to everyone for your advice. I just returned from the doctor's office where we got a little bit better picture of the diagnosis.

Felicity carries the DF508 gene from mom and the R117H from dad. The 26 was her sweat test result; which would have not resulted in going for the genetic test had we not already requested that they be done concurrently. They are going to test my grandson now as well and we are not wasting time with the sweat test.

We were told that there is a process in the works to lower the normal range for sweat tests to 20 due to the increasing findings of these lower level mutations.

The peds has told us that she had the results looked over by the CF Clinic in our state - other end of the state, by the way. The doctor up there wants to see and follow Felicity but feels that her prognosis is good with this odd pairing of dads very nominal gene and mom's bad one. We shall see. Basically at this point - we are alerted and will be watching and looking at preventive care.

Evidently the gene that my SIL has often does not show up as problematic until adulthood in infertility testing. Weird.

So... we will wait another 2 weeks and pray that the other shoe does not drop for Brayden. He has enough going on without adding CF to it!

Thanks again everyone...and I will be checking in.

 

[Theresa59]

THANK YOU to everyone for your advice. I just returned from the doctor's office where we got a little bit better picture of the diagnosis.

Felicity carries the DF508 gene from mom and the R117H from dad. The 26 was her sweat test result; which would have not resulted in going for the genetic test had we not already requested that they be done concurrently. They are going to test my grandson now as well and we are not wasting time with the sweat test.

We were told that there is a process in the works to lower the normal range for sweat tests to 20 due to the increasing findings of these lower level mutations.

The peds has told us that she had the results looked over by the CF Clinic in our state - other end of the state, by the way. The doctor up there wants to see and follow Felicity but feels that her prognosis is good with this odd pairing of dads very nominal gene and mom's bad one. We shall see. Basically at this point - we are alerted and will be watching and looking at preventive care.

Evidently the gene that my SIL has often does not show up as problematic until adulthood in infertility testing. Weird.

So... we will wait another 2 weeks and pray that the other shoe does not drop for Brayden. He has enough going on without adding CF to it!

Thanks again everyone...and I will be checking in.

 

[ktsmom]

Hello again - if you haven't already, you should read this thread from the Families section. There is a link to an article about DF508 and R117H. Some of it might be gobble-de-gook at this point to you but I found it very interesting, and it seems very topical given Felicity's genes. Take care!


<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=26981&enterthread=y">http://forums.cysticfibrosis.c...id=26981&enterthread=y</a>

 

[ktsmom]

Hello again - if you haven't already, you should read this thread from the Families section. There is a link to an article about DF508 and R117H. Some of it might be gobble-de-gook at this point to you but I found it very interesting, and it seems very topical given Felicity's genes. Take care!


<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=26981&enterthread=y">http://forums.cysticfibrosis.c...id=26981&enterthread=y</a>

 

[ktsmom]

Hello again - if you haven't already, you should read this thread from the Families section. There is a link to an article about DF508 and R117H. Some of it might be gobble-de-gook at this point to you but I found it very interesting, and it seems very topical given Felicity's genes. Take care!


<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=26981&enterthread=y">http://forums.cysticfibrosis.c...id=26981&enterthread=y</a>

 

[ktsmom]

Hello again - if you haven't already, you should read this thread from the Families section. There is a link to an article about DF508 and R117H. Some of it might be gobble-de-gook at this point to you but I found it very interesting, and it seems very topical given Felicity's genes. Take care!


<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=26981&enterthread=y">http://forums.cysticfibrosis.c...id=26981&enterthread=y</a>

 

[ktsmom]

Hello again - if you haven't already, you should read this thread from the Families section. There is a link to an article about DF508 and R117H. Some of it might be gobble-de-gook at this point to you but I found it very interesting, and it seems very topical given Felicity's genes. Take care!


<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=26981&enterthread=y">http://forums.cysticfibrosis.c...id=26981&enterthread=y</a>

 

[AbbysMama]

Theresa,

Glad that you found us. My daughter has the same mutations and hopefully we'll be able to share info as we both learn more about the combo. Alyssa's children have those mutations as well. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Take care!

Emily

 

[AbbysMama]

Theresa,

Glad that you found us. My daughter has the same mutations and hopefully we'll be able to share info as we both learn more about the combo. Alyssa's children have those mutations as well. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Take care!

Emily

 

[AbbysMama]

Theresa,

Glad that you found us. My daughter has the same mutations and hopefully we'll be able to share info as we both learn more about the combo. Alyssa's children have those mutations as well. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Take care!

Emily

 

[AbbysMama]

Theresa,

Glad that you found us. My daughter has the same mutations and hopefully we'll be able to share info as we both learn more about the combo. Alyssa's children have those mutations as well. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Take care!

Emily

 

[AbbysMama]

Theresa,

Glad that you found us. My daughter has the same mutations and hopefully we'll be able to share info as we both learn more about the combo. Alyssa's children have those mutations as well. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Take care!

Emily

 

[Alyssa]

That is so funny that she has those genes! That's what my kids have too! I say funny (not haha) but rather coincidence funny, because as I read your post initially I was thinking, well..... maybe if she happens to have the R117H gene the doctor is somewhat justified in saying mild case.... he is exactly right -- a lot of doctors say the same thing about this gene combination. I still stand on my comment about age 30 though.... as the article below shows, although it is often times associated with later onset and mild cases (my son didn't show symptoms until age 21) but some infants are getting psuedomonas infections so you just never know.

I too wanted to give you the link that Emily had posted on the other post --

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&
">http://pediatrics.aappublicati...t&gca=118%2F3%2F1260&
</a>
This takes you directly to the article -- Emily found this and it is a wonderful resource !!! as we don't usually see much in print /proof about our gene pair. Some people had been talking about removing the R117H from the CF list, but because of the information that is sited in this article I am guessing that won't happen now. I think that's a good thing from the perspective of catching and treating symptoms early.

That is great to hear talk of lowering the sweat test numbers -- 20 would be so much better than 40. I know there are still some people out there in the single digits but there are a whole lot of people between 20 and 40 that have trouble getting diagnosed -- bringing it down to 20 would sure make things easier for everyone.

 

[Alyssa]

That is so funny that she has those genes! That's what my kids have too! I say funny (not haha) but rather coincidence funny, because as I read your post initially I was thinking, well..... maybe if she happens to have the R117H gene the doctor is somewhat justified in saying mild case.... he is exactly right -- a lot of doctors say the same thing about this gene combination. I still stand on my comment about age 30 though.... as the article below shows, although it is often times associated with later onset and mild cases (my son didn't show symptoms until age 21) but some infants are getting psuedomonas infections so you just never know.

I too wanted to give you the link that Emily had posted on the other post --

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&
">http://pediatrics.aappublicati...t&gca=118%2F3%2F1260&
</a>
This takes you directly to the article -- Emily found this and it is a wonderful resource !!! as we don't usually see much in print /proof about our gene pair. Some people had been talking about removing the R117H from the CF list, but because of the information that is sited in this article I am guessing that won't happen now. I think that's a good thing from the perspective of catching and treating symptoms early.

That is great to hear talk of lowering the sweat test numbers -- 20 would be so much better than 40. I know there are still some people out there in the single digits but there are a whole lot of people between 20 and 40 that have trouble getting diagnosed -- bringing it down to 20 would sure make things easier for everyone.

 

[Alyssa]

That is so funny that she has those genes! That's what my kids have too! I say funny (not haha) but rather coincidence funny, because as I read your post initially I was thinking, well..... maybe if she happens to have the R117H gene the doctor is somewhat justified in saying mild case.... he is exactly right -- a lot of doctors say the same thing about this gene combination. I still stand on my comment about age 30 though.... as the article below shows, although it is often times associated with later onset and mild cases (my son didn't show symptoms until age 21) but some infants are getting psuedomonas infections so you just never know.

I too wanted to give you the link that Emily had posted on the other post --

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&
">http://pediatrics.aappublicati...t&gca=118%2F3%2F1260&
</a>
This takes you directly to the article -- Emily found this and it is a wonderful resource !!! as we don't usually see much in print /proof about our gene pair. Some people had been talking about removing the R117H from the CF list, but because of the information that is sited in this article I am guessing that won't happen now. I think that's a good thing from the perspective of catching and treating symptoms early.

That is great to hear talk of lowering the sweat test numbers -- 20 would be so much better than 40. I know there are still some people out there in the single digits but there are a whole lot of people between 20 and 40 that have trouble getting diagnosed -- bringing it down to 20 would sure make things easier for everyone.

 

[Alyssa]

That is so funny that she has those genes! That's what my kids have too! I say funny (not haha) but rather coincidence funny, because as I read your post initially I was thinking, well..... maybe if she happens to have the R117H gene the doctor is somewhat justified in saying mild case.... he is exactly right -- a lot of doctors say the same thing about this gene combination. I still stand on my comment about age 30 though.... as the article below shows, although it is often times associated with later onset and mild cases (my son didn't show symptoms until age 21) but some infants are getting psuedomonas infections so you just never know.

I too wanted to give you the link that Emily had posted on the other post --

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&
">http://pediatrics.aappublicati...t&gca=118%2F3%2F1260&
</a>
This takes you directly to the article -- Emily found this and it is a wonderful resource !!! as we don't usually see much in print /proof about our gene pair. Some people had been talking about removing the R117H from the CF list, but because of the information that is sited in this article I am guessing that won't happen now. I think that's a good thing from the perspective of catching and treating symptoms early.

That is great to hear talk of lowering the sweat test numbers -- 20 would be so much better than 40. I know there are still some people out there in the single digits but there are a whole lot of people between 20 and 40 that have trouble getting diagnosed -- bringing it down to 20 would sure make things easier for everyone.

 

[Alyssa]

That is so funny that she has those genes! That's what my kids have too! I say funny (not haha) but rather coincidence funny, because as I read your post initially I was thinking, well..... maybe if she happens to have the R117H gene the doctor is somewhat justified in saying mild case.... he is exactly right -- a lot of doctors say the same thing about this gene combination. I still stand on my comment about age 30 though.... as the article below shows, although it is often times associated with later onset and mild cases (my son didn't show symptoms until age 21) but some infants are getting psuedomonas infections so you just never know.

I too wanted to give you the link that Emily had posted on the other post --

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&
">http://pediatrics.aappublicati...t&gca=118%2F3%2F1260&
</a>
This takes you directly to the article -- Emily found this and it is a wonderful resource !!! as we don't usually see much in print /proof about our gene pair. Some people had been talking about removing the R117H from the CF list, but because of the information that is sited in this article I am guessing that won't happen now. I think that's a good thing from the perspective of catching and treating symptoms early.

That is great to hear talk of lowering the sweat test numbers -- 20 would be so much better than 40. I know there are still some people out there in the single digits but there are a whole lot of people between 20 and 40 that have trouble getting diagnosed -- bringing it down to 20 would sure make things easier for everyone.