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faithstewart
Guest
I am just wondering if anyone out there has or knows anyone who has this mutation. Just wondering what we have to "look forward" too...
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faithstewart
Guest
I am just wondering if anyone out there has or knows anyone who has this mutation. Just wondering what we have to "look forward" too...
F
faithstewart
Guest
I am just wondering if anyone out there has or knows anyone who has this mutation. Just wondering what we have to "look forward" too...
F
faithstewart
Guest
Maybe I should clarify. This is my first time posting here. My daughter will be 2 in December and was diagnosed as a carrier at birth due to newborn screening. She had intermediate sweat tests, so we did the full genetic testing. We know her combination is very, very rare, so we are wondering if anyone out there has any idea what we can expect?
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faithstewart
Guest
Maybe I should clarify. This is my first time posting here. My daughter will be 2 in December and was diagnosed as a carrier at birth due to newborn screening. She had intermediate sweat tests, so we did the full genetic testing. We know her combination is very, very rare, so we are wondering if anyone out there has any idea what we can expect?
F
faithstewart
Guest
Maybe I should clarify. This is my first time posting here. My daughter will be 2 in December and was diagnosed as a carrier at birth due to newborn screening. She had intermediate sweat tests, so we did the full genetic testing. We know her combination is very, very rare, so we are wondering if anyone out there has any idea what we can expect?
S
SarahProcter
Guest
Hello -
I am sorry to say that I do not have any information about this mutation. I just wanted to express empathy as a parent in the same boat - my daughter has one common and one rare mutation (DF508 and S1159P), and there is only one case study that her doctors can find with that rare gene. She was also diagnosed based on newborn screening, had borderline and high-normal sweat tests, and has been asymptomatic so far (at the age of 2). So, I know what it's like, at least, and I hope you find out more!
For what it's worth, our CF center director told me that they are in the middle of merging CFF data with the updated version of the Toronto Sick Kids database, and that they're collecting a lot of information to help them track how things develop for people with different mutations and who receive different treatments. So it may well be the case that when they get all that information stitched together, there will be more for you to go on.
I am sorry to say that I do not have any information about this mutation. I just wanted to express empathy as a parent in the same boat - my daughter has one common and one rare mutation (DF508 and S1159P), and there is only one case study that her doctors can find with that rare gene. She was also diagnosed based on newborn screening, had borderline and high-normal sweat tests, and has been asymptomatic so far (at the age of 2). So, I know what it's like, at least, and I hope you find out more!
For what it's worth, our CF center director told me that they are in the middle of merging CFF data with the updated version of the Toronto Sick Kids database, and that they're collecting a lot of information to help them track how things develop for people with different mutations and who receive different treatments. So it may well be the case that when they get all that information stitched together, there will be more for you to go on.
S
SarahProcter
Guest
Hello -
I am sorry to say that I do not have any information about this mutation. I just wanted to express empathy as a parent in the same boat - my daughter has one common and one rare mutation (DF508 and S1159P), and there is only one case study that her doctors can find with that rare gene. She was also diagnosed based on newborn screening, had borderline and high-normal sweat tests, and has been asymptomatic so far (at the age of 2). So, I know what it's like, at least, and I hope you find out more!
For what it's worth, our CF center director told me that they are in the middle of merging CFF data with the updated version of the Toronto Sick Kids database, and that they're collecting a lot of information to help them track how things develop for people with different mutations and who receive different treatments. So it may well be the case that when they get all that information stitched together, there will be more for you to go on.
I am sorry to say that I do not have any information about this mutation. I just wanted to express empathy as a parent in the same boat - my daughter has one common and one rare mutation (DF508 and S1159P), and there is only one case study that her doctors can find with that rare gene. She was also diagnosed based on newborn screening, had borderline and high-normal sweat tests, and has been asymptomatic so far (at the age of 2). So, I know what it's like, at least, and I hope you find out more!
For what it's worth, our CF center director told me that they are in the middle of merging CFF data with the updated version of the Toronto Sick Kids database, and that they're collecting a lot of information to help them track how things develop for people with different mutations and who receive different treatments. So it may well be the case that when they get all that information stitched together, there will be more for you to go on.
S
SarahProcter
Guest
Hello -
<br />
<br />I am sorry to say that I do not have any information about this mutation. I just wanted to express empathy as a parent in the same boat - my daughter has one common and one rare mutation (DF508 and S1159P), and there is only one case study that her doctors can find with that rare gene. She was also diagnosed based on newborn screening, had borderline and high-normal sweat tests, and has been asymptomatic so far (at the age of 2). So, I know what it's like, at least, and I hope you find out more!
<br />
<br />For what it's worth, our CF center director told me that they are in the middle of merging CFF data with the updated version of the Toronto Sick Kids database, and that they're collecting a lot of information to help them track how things develop for people with different mutations and who receive different treatments. So it may well be the case that when they get all that information stitched together, there will be more for you to go on.
<br />
<br />
<br />I am sorry to say that I do not have any information about this mutation. I just wanted to express empathy as a parent in the same boat - my daughter has one common and one rare mutation (DF508 and S1159P), and there is only one case study that her doctors can find with that rare gene. She was also diagnosed based on newborn screening, had borderline and high-normal sweat tests, and has been asymptomatic so far (at the age of 2). So, I know what it's like, at least, and I hope you find out more!
<br />
<br />For what it's worth, our CF center director told me that they are in the middle of merging CFF data with the updated version of the Toronto Sick Kids database, and that they're collecting a lot of information to help them track how things develop for people with different mutations and who receive different treatments. So it may well be the case that when they get all that information stitched together, there will be more for you to go on.
<br />
JennifersHope
New member
I just want to add that I am going to be 38 in two weeks and I was dx with CF 10 years ago via sweat tests, however, I am a typical CF so they sent my blood off for full genetic testing.
I have DF508 and one gene so rare that so far, no one has been able to find out about it. It is driving me nuts... and I don't know if they are ever going to have an answer for me... which leaves me in the delimia of not knowing how aggressive to be doing treatments or not....
I have DF508 and one gene so rare that so far, no one has been able to find out about it. It is driving me nuts... and I don't know if they are ever going to have an answer for me... which leaves me in the delimia of not knowing how aggressive to be doing treatments or not....
JennifersHope
New member
I just want to add that I am going to be 38 in two weeks and I was dx with CF 10 years ago via sweat tests, however, I am a typical CF so they sent my blood off for full genetic testing.
I have DF508 and one gene so rare that so far, no one has been able to find out about it. It is driving me nuts... and I don't know if they are ever going to have an answer for me... which leaves me in the delimia of not knowing how aggressive to be doing treatments or not....
I have DF508 and one gene so rare that so far, no one has been able to find out about it. It is driving me nuts... and I don't know if they are ever going to have an answer for me... which leaves me in the delimia of not knowing how aggressive to be doing treatments or not....
JennifersHope
New member
I just want to add that I am going to be 38 in two weeks and I was dx with CF 10 years ago via sweat tests, however, I am a typical CF so they sent my blood off for full genetic testing.
<br />
<br />I have DF508 and one gene so rare that so far, no one has been able to find out about it. It is driving me nuts... and I don't know if they are ever going to have an answer for me... which leaves me in the delimia of not knowing how aggressive to be doing treatments or not....
<br />
<br />
<br />
<br />I have DF508 and one gene so rare that so far, no one has been able to find out about it. It is driving me nuts... and I don't know if they are ever going to have an answer for me... which leaves me in the delimia of not knowing how aggressive to be doing treatments or not....
<br />
<br />
F
faithstewart
Guest
Thanks SOOOO much guys. It is really nice to know we are not alone<img src="i/expressions/face-icon-small-smile.gif" border="0"> JennifersHope, do you mind me asking what made them test you? I mean, are you showing symptons? I guess you had to be... I'm just wondering how severe I guess.
SarahProctor- Our daughters must be very close in age. We are asymptomatic so far also... but were told to treat as if typical CF... so here we are with inhaler and 30 minutes on the vest twice per day...how do you guys treat?
SarahProctor- Our daughters must be very close in age. We are asymptomatic so far also... but were told to treat as if typical CF... so here we are with inhaler and 30 minutes on the vest twice per day...how do you guys treat?
F
faithstewart
Guest
Thanks SOOOO much guys. It is really nice to know we are not alone<img src="i/expressions/face-icon-small-smile.gif" border="0"> JennifersHope, do you mind me asking what made them test you? I mean, are you showing symptons? I guess you had to be... I'm just wondering how severe I guess.
SarahProctor- Our daughters must be very close in age. We are asymptomatic so far also... but were told to treat as if typical CF... so here we are with inhaler and 30 minutes on the vest twice per day...how do you guys treat?
SarahProctor- Our daughters must be very close in age. We are asymptomatic so far also... but were told to treat as if typical CF... so here we are with inhaler and 30 minutes on the vest twice per day...how do you guys treat?
F
faithstewart
Guest
Thanks SOOOO much guys. It is really nice to know we are not alone<img src="i/expressions/face-icon-small-smile.gif" border="0"> JennifersHope, do you mind me asking what made them test you? I mean, are you showing symptons? I guess you had to be... I'm just wondering how severe I guess.
<br />
<br />SarahProctor- Our daughters must be very close in age. We are asymptomatic so far also... but were told to treat as if typical CF... so here we are with inhaler and 30 minutes on the vest twice per day...how do you guys treat?
<br />
<br />SarahProctor- Our daughters must be very close in age. We are asymptomatic so far also... but were told to treat as if typical CF... so here we are with inhaler and 30 minutes on the vest twice per day...how do you guys treat?
My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta.
The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta.
The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta.
<br />
<br />The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
<br />
<br />The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
<strong>
<div class="MessageText_Container">My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta. The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.</div>
</strong>
<div class="MessageText_Container">My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta. The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.</div>
</strong>
<strong>
<div class="MessageText_Container">My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta. The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
</strong>
<div class="MessageText_Container">My 2 daughters have the S1118F mutation. One is 17 and the other is 8. It seems to be a milder mutation were the chloride channel works 5-10% of the time. Both are pancreatic sufficient. I have found data on the internet were studies have been done on this mutation - specifically at Emory University in Atlanta. The studies at Emory show it is a gating mutation and it allows the chloride channel to work 5-10% of the time. My hope is that the VX-770 drug now being tested which was designed for the G551D mutation (also a gating mutation), will be effective for the S1118F mutation. The VX-770 seems to force the channel open. We'll have to wait and see if it is effective for S1118F.
</strong>