DF508 and 3659delC anyone??

S

Stannon06

New member
Hi all,

My wife and I just got the news today that our 3 wk old daughter tested positive for CF. She has the df508/3659delc mutation. Our doctor knew absolutely nothing about 3659delc. He couldn't comment to the severity of her CF. He just said it was rare.

I have read the previous comments and welcome any feedback. I have found some studies out of Sweden that have had patients with the same genetic mutations, but no comments as to the quality of life. Also, I noticed in the previous posts the term "PI". What is that or what does it mean.

Like I said, we are not even 24 hrs into our CF journey. Please be patient if I ask ignorant questions.

Stan
Alabama
 
S

Stannon06

New member
Hi all,

My wife and I just got the news today that our 3 wk old daughter tested positive for CF. She has the df508/3659delc mutation. Our doctor knew absolutely nothing about 3659delc. He couldn't comment to the severity of her CF. He just said it was rare.

I have read the previous comments and welcome any feedback. I have found some studies out of Sweden that have had patients with the same genetic mutations, but no comments as to the quality of life. Also, I noticed in the previous posts the term "PI". What is that or what does it mean.

Like I said, we are not even 24 hrs into our CF journey. Please be patient if I ask ignorant questions.

Stan
Alabama
 
S

Stannon06

New member
Hi all,

My wife and I just got the news today that our 3 wk old daughter tested positive for CF. She has the df508/3659delc mutation. Our doctor knew absolutely nothing about 3659delc. He couldn't comment to the severity of her CF. He just said it was rare.

I have read the previous comments and welcome any feedback. I have found some studies out of Sweden that have had patients with the same genetic mutations, but no comments as to the quality of life. Also, I noticed in the previous posts the term "PI". What is that or what does it mean.

Like I said, we are not even 24 hrs into our CF journey. Please be patient if I ask ignorant questions.

Stan
Alabama
 
S

Stannon06

New member
Hi all,

My wife and I just got the news today that our 3 wk old daughter tested positive for CF. She has the df508/3659delc mutation. Our doctor knew absolutely nothing about 3659delc. He couldn't comment to the severity of her CF. He just said it was rare.

I have read the previous comments and welcome any feedback. I have found some studies out of Sweden that have had patients with the same genetic mutations, but no comments as to the quality of life. Also, I noticed in the previous posts the term "PI". What is that or what does it mean.

Like I said, we are not even 24 hrs into our CF journey. Please be patient if I ask ignorant questions.

Stan
Alabama
 
S

Stannon06

New member
Hi all,
<br />
<br />My wife and I just got the news today that our 3 wk old daughter tested positive for CF. She has the df508/3659delc mutation. Our doctor knew absolutely nothing about 3659delc. He couldn't comment to the severity of her CF. He just said it was rare.
<br />
<br />I have read the previous comments and welcome any feedback. I have found some studies out of Sweden that have had patients with the same genetic mutations, but no comments as to the quality of life. Also, I noticed in the previous posts the term "PI". What is that or what does it mean.
<br />
<br />Like I said, we are not even 24 hrs into our CF journey. Please be patient if I ask ignorant questions.
<br />
<br />Stan
<br />Alabama
 
S

Sevenstars

New member
Hi there Stan, welcome to the site.

This thread was posted a little while ago and will help you with some common abbreviations used here.

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=32660&enterthread=y
">http://forums.cysticfibrosis.c...d=32660&enterthread=y
</a>
PI stands for Pancreatic Insufficent. Most people with CF are Pancreatic Insufficent, which simply means that they must take enzymes (pills) with everything they eat. I could give the more complicated version but that is what is boils down to. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Here is another great place for information:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/
">http://understandingcysticfibrosis.blogspot.com/
</a>
The author is a frequent poster here, and you can learn a lot from that blog alone.

Good luck with everything, don't be afraid to ask more questions and we can point you in the right direction.
 
S

Sevenstars

New member
Hi there Stan, welcome to the site.

This thread was posted a little while ago and will help you with some common abbreviations used here.

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=32660&enterthread=y
">http://forums.cysticfibrosis.c...d=32660&enterthread=y
</a>
PI stands for Pancreatic Insufficent. Most people with CF are Pancreatic Insufficent, which simply means that they must take enzymes (pills) with everything they eat. I could give the more complicated version but that is what is boils down to. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Here is another great place for information:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/
">http://understandingcysticfibrosis.blogspot.com/
</a>
The author is a frequent poster here, and you can learn a lot from that blog alone.

Good luck with everything, don't be afraid to ask more questions and we can point you in the right direction.
 
S

Sevenstars

New member
Hi there Stan, welcome to the site.

This thread was posted a little while ago and will help you with some common abbreviations used here.

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=32660&enterthread=y
">http://forums.cysticfibrosis.c...d=32660&enterthread=y
</a>
PI stands for Pancreatic Insufficent. Most people with CF are Pancreatic Insufficent, which simply means that they must take enzymes (pills) with everything they eat. I could give the more complicated version but that is what is boils down to. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Here is another great place for information:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/
">http://understandingcysticfibrosis.blogspot.com/
</a>
The author is a frequent poster here, and you can learn a lot from that blog alone.

Good luck with everything, don't be afraid to ask more questions and we can point you in the right direction.
 
S

Sevenstars

New member
Hi there Stan, welcome to the site.

This thread was posted a little while ago and will help you with some common abbreviations used here.

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=32660&enterthread=y
">http://forums.cysticfibrosis.c...d=32660&enterthread=y
</a>
PI stands for Pancreatic Insufficent. Most people with CF are Pancreatic Insufficent, which simply means that they must take enzymes (pills) with everything they eat. I could give the more complicated version but that is what is boils down to. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Here is another great place for information:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/
">http://understandingcysticfibrosis.blogspot.com/
</a>
The author is a frequent poster here, and you can learn a lot from that blog alone.

Good luck with everything, don't be afraid to ask more questions and we can point you in the right direction.
 
S

Sevenstars

New member
Hi there Stan, welcome to the site.
<br />
<br />This thread was posted a little while ago and will help you with some common abbreviations used here.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=32660&enterthread=y
">http://forums.cysticfibrosis.c...d=32660&enterthread=y
</a><br />
<br />PI stands for Pancreatic Insufficent. Most people with CF are Pancreatic Insufficent, which simply means that they must take enzymes (pills) with everything they eat. I could give the more complicated version but that is what is boils down to. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Here is another great place for information:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/
">http://understandingcysticfibrosis.blogspot.com/
</a><br />
<br />The author is a frequent poster here, and you can learn a lot from that blog alone.
<br />
<br />Good luck with everything, don't be afraid to ask more questions and we can point you in the right direction.
<br />
 
S

Stannon06

New member
Thank you for your time and info. Our daughter, Ella Kate, is currently taking enzymes and vitamins A,D,E & K. The enzymes have seemd to take effect, as the consistancy and color of her BM's changed. The vitamins are hard to get down. They taste like Flintstones, which aren't bad, but to her it is such a strange taste.

One thing I am concerned about is our Doctor. He didn't know anything about her genetic mutation, specifically the 3659-delC. All he said was it is rare. Is that acceptable? In my book it is not. We want to go to Vanderbilt in Nashville and are waiting for a call from our pediatrician tomorrow. Our doctor in Birmingham said we didn't have to be concerned about her being around people with colds, infections, etc. because her immune system was not compromised, but it seems to me that anyone with CF should avoid any contagious respiratory condition.

Any feedback is welcomed!
 
S

Stannon06

New member
Thank you for your time and info. Our daughter, Ella Kate, is currently taking enzymes and vitamins A,D,E & K. The enzymes have seemd to take effect, as the consistancy and color of her BM's changed. The vitamins are hard to get down. They taste like Flintstones, which aren't bad, but to her it is such a strange taste.

One thing I am concerned about is our Doctor. He didn't know anything about her genetic mutation, specifically the 3659-delC. All he said was it is rare. Is that acceptable? In my book it is not. We want to go to Vanderbilt in Nashville and are waiting for a call from our pediatrician tomorrow. Our doctor in Birmingham said we didn't have to be concerned about her being around people with colds, infections, etc. because her immune system was not compromised, but it seems to me that anyone with CF should avoid any contagious respiratory condition.

Any feedback is welcomed!
 
S

Stannon06

New member
Thank you for your time and info. Our daughter, Ella Kate, is currently taking enzymes and vitamins A,D,E & K. The enzymes have seemd to take effect, as the consistancy and color of her BM's changed. The vitamins are hard to get down. They taste like Flintstones, which aren't bad, but to her it is such a strange taste.

One thing I am concerned about is our Doctor. He didn't know anything about her genetic mutation, specifically the 3659-delC. All he said was it is rare. Is that acceptable? In my book it is not. We want to go to Vanderbilt in Nashville and are waiting for a call from our pediatrician tomorrow. Our doctor in Birmingham said we didn't have to be concerned about her being around people with colds, infections, etc. because her immune system was not compromised, but it seems to me that anyone with CF should avoid any contagious respiratory condition.

Any feedback is welcomed!
 
S

Stannon06

New member
Thank you for your time and info. Our daughter, Ella Kate, is currently taking enzymes and vitamins A,D,E & K. The enzymes have seemd to take effect, as the consistancy and color of her BM's changed. The vitamins are hard to get down. They taste like Flintstones, which aren't bad, but to her it is such a strange taste.

One thing I am concerned about is our Doctor. He didn't know anything about her genetic mutation, specifically the 3659-delC. All he said was it is rare. Is that acceptable? In my book it is not. We want to go to Vanderbilt in Nashville and are waiting for a call from our pediatrician tomorrow. Our doctor in Birmingham said we didn't have to be concerned about her being around people with colds, infections, etc. because her immune system was not compromised, but it seems to me that anyone with CF should avoid any contagious respiratory condition.

Any feedback is welcomed!
 
S

Stannon06

New member
Thank you for your time and info. Our daughter, Ella Kate, is currently taking enzymes and vitamins A,D,E & K. The enzymes have seemd to take effect, as the consistancy and color of her BM's changed. The vitamins are hard to get down. They taste like Flintstones, which aren't bad, but to her it is such a strange taste.
<br />
<br />One thing I am concerned about is our Doctor. He didn't know anything about her genetic mutation, specifically the 3659-delC. All he said was it is rare. Is that acceptable? In my book it is not. We want to go to Vanderbilt in Nashville and are waiting for a call from our pediatrician tomorrow. Our doctor in Birmingham said we didn't have to be concerned about her being around people with colds, infections, etc. because her immune system was not compromised, but it seems to me that anyone with CF should avoid any contagious respiratory condition.
<br />
<br />Any feedback is welcomed!
 
C

carriepathy

New member
How is your daughter doing? Our little boy - 4 months this week - is doing fine with the same mutations. So far we haven't had any problems with his lungs, although they have put him on antibiotics a couple of times. I would love to stay in touch and see how our kids develop - we live in Switzerland so maybe have a different medical experience.
 
C

carriepathy

New member
How is your daughter doing? Our little boy - 4 months this week - is doing fine with the same mutations. So far we haven't had any problems with his lungs, although they have put him on antibiotics a couple of times. I would love to stay in touch and see how our kids develop - we live in Switzerland so maybe have a different medical experience.
 
C

carriepathy

New member
How is your daughter doing? Our little boy - 4 months this week - is doing fine with the same mutations. So far we haven't had any problems with his lungs, although they have put him on antibiotics a couple of times. I would love to stay in touch and see how our kids develop - we live in Switzerland so maybe have a different medical experience.
 
C

carriepathy

New member
How is your daughter doing? Our little boy - 4 months this week - is doing fine with the same mutations. So far we haven't had any problems with his lungs, although they have put him on antibiotics a couple of times. I would love to stay in touch and see how our kids develop - we live in Switzerland so maybe have a different medical experience.
 
C

carriepathy

New member
How is your daughter doing? Our little boy - 4 months this week - is doing fine with the same mutations. So far we haven't had any problems with his lungs, although they have put him on antibiotics a couple of times. I would love to stay in touch and see how our kids develop - we live in Switzerland so maybe have a different medical experience.
 
You must log in or register to reply here.
Top