Any info on delta F508/c.2657+2_2657+3insA

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worriedgrandma

Guest
Does anyone have or have heard of someone with this gene combination. My 3 month old granddaughter was diagnosed at 2 weeks old with these mutations. She had a sweat test of 72 and is pancreatic sufficient (knock on wood). The not knowing what to expect is just as hard as knowing that she has CF.
 
W

worriedgrandma

Guest
Does anyone have or have heard of someone with this gene combination. My 3 month old granddaughter was diagnosed at 2 weeks old with these mutations. She had a sweat test of 72 and is pancreatic sufficient (knock on wood). The not knowing what to expect is just as hard as knowing that she has CF.
 
W

worriedgrandma

Guest
Does anyone have or have heard of someone with this gene combination. My 3 month old granddaughter was diagnosed at 2 weeks old with these mutations. She had a sweat test of 72 and is pancreatic sufficient (knock on wood). The not knowing what to expect is just as hard as knowing that she has CF.
 
M

Mommafirst

Guest
Hello and welcome,

You can try going into the Ambry Thread (at the top of the families board) and asking Steve. He's a geneticist and might be able to give you some insight. But the bottom line is that the mutation combination is not a good predictor of how one person's CF will play out. There are siblings with the same mutations that have dramatically different courses of the disease.

I understand how hard it is not to know. It gets easier as time goes by, but it is still hard sometimes just not to be able to wrap our heads around when and how bad.
 
M

Mommafirst

Guest
Hello and welcome,

You can try going into the Ambry Thread (at the top of the families board) and asking Steve. He's a geneticist and might be able to give you some insight. But the bottom line is that the mutation combination is not a good predictor of how one person's CF will play out. There are siblings with the same mutations that have dramatically different courses of the disease.

I understand how hard it is not to know. It gets easier as time goes by, but it is still hard sometimes just not to be able to wrap our heads around when and how bad.
 
M

Mommafirst

Guest
Hello and welcome,
<br />
<br />You can try going into the Ambry Thread (at the top of the families board) and asking Steve. He's a geneticist and might be able to give you some insight. But the bottom line is that the mutation combination is not a good predictor of how one person's CF will play out. There are siblings with the same mutations that have dramatically different courses of the disease.
<br />
<br />I understand how hard it is not to know. It gets easier as time goes by, but it is still hard sometimes just not to be able to wrap our heads around when and how bad.
 

katzyloo

New member
hi there my son has the same gene combination if i can be of any help.
It is all new to us as well though, he was diagnosed about 2 weeks ago after sweat test of 75. he has no symptoms, and is pancreatic sufficient.
katie
 

katzyloo

New member
hi there my son has the same gene combination if i can be of any help.
It is all new to us as well though, he was diagnosed about 2 weeks ago after sweat test of 75. he has no symptoms, and is pancreatic sufficient.
katie
 

katzyloo

New member
hi there my son has the same gene combination if i can be of any help.
<br />It is all new to us as well though, he was diagnosed about 2 weeks ago after sweat test of 75. he has no symptoms, and is pancreatic sufficient.
<br />katie
 
W

worriedgrandma

Guest
Hi Katie, sorry I didn't see your msg, haven't been on lately. The only info I have found is the same as you said, male fertility so I'm crossing my fingers. My granddaughter is now 4 1/2 months old and as our Dr said, so far there is NO INDICATION at all that she has this disease other than a sweat test of 72. How old is your son?
 
W

worriedgrandma

Guest
Hi Katie, sorry I didn't see your msg, haven't been on lately. The only info I have found is the same as you said, male fertility so I'm crossing my fingers. My granddaughter is now 4 1/2 months old and as our Dr said, so far there is NO INDICATION at all that she has this disease other than a sweat test of 72. How old is your son?
 
W

worriedgrandma

Guest
Hi Katie, sorry I didn't see your msg, haven't been on lately. The only info I have found is the same as you said, male fertility so I'm crossing my fingers. My granddaughter is now 4 1/2 months old and as our Dr said, so far there is NO INDICATION at all that she has this disease other than a sweat test of 72. How old is your son?
 

katzyloo

New member
Nathan is 10 weeks now. He is the exact same, we actually wouldnt have been none the wiser if he hadnt of shown high levels of protein in the newborn screening (not sure if this is a procedure they have in america).
He has had a lot of bowel movement problems, but in terms of absorbing fats and proteins from his food he appears to be doing that successfully as he is now 12 lbs, 4 ozs.
He is quite chesty occasionally but up until now there has been no infection. I dont think it matters, if this combination is mild, I think ill still be a wreck when he gets a chest infection, even though every child does.
has your cf doctor suggested using preventative measures anyway?
Here in Scotland, UK, I think it is normal for every child to start physio, regardless of the severity of the cf.
I know our consultant is doing some research on the gene combination, so i would be interested to see if the does and how it may affect females, as extending our family may be an option in the future.
hope you and your family are all well.
katie
 

katzyloo

New member
Nathan is 10 weeks now. He is the exact same, we actually wouldnt have been none the wiser if he hadnt of shown high levels of protein in the newborn screening (not sure if this is a procedure they have in america).
He has had a lot of bowel movement problems, but in terms of absorbing fats and proteins from his food he appears to be doing that successfully as he is now 12 lbs, 4 ozs.
He is quite chesty occasionally but up until now there has been no infection. I dont think it matters, if this combination is mild, I think ill still be a wreck when he gets a chest infection, even though every child does.
has your cf doctor suggested using preventative measures anyway?
Here in Scotland, UK, I think it is normal for every child to start physio, regardless of the severity of the cf.
I know our consultant is doing some research on the gene combination, so i would be interested to see if the does and how it may affect females, as extending our family may be an option in the future.
hope you and your family are all well.
katie
 

katzyloo

New member
Nathan is 10 weeks now. He is the exact same, we actually wouldnt have been none the wiser if he hadnt of shown high levels of protein in the newborn screening (not sure if this is a procedure they have in america).
<br />He has had a lot of bowel movement problems, but in terms of absorbing fats and proteins from his food he appears to be doing that successfully as he is now 12 lbs, 4 ozs.
<br />He is quite chesty occasionally but up until now there has been no infection. I dont think it matters, if this combination is mild, I think ill still be a wreck when he gets a chest infection, even though every child does.
<br />has your cf doctor suggested using preventative measures anyway?
<br />Here in Scotland, UK, I think it is normal for every child to start physio, regardless of the severity of the cf.
<br />I know our consultant is doing some research on the gene combination, so i would be interested to see if the does and how it may affect females, as extending our family may be an option in the future.
<br />hope you and your family are all well.
<br />katie
 
W

worriedgrandma

Guest
Yes the CF Dr has my granddaughter on a nebulizer twice a day and chest physio just as a "preventative" measure. She said it will never hurt her even if she doesn't need it.
 
W

worriedgrandma

Guest
Yes the CF Dr has my granddaughter on a nebulizer twice a day and chest physio just as a "preventative" measure. She said it will never hurt her even if she doesn't need it.
 
W

worriedgrandma

Guest
Yes the CF Dr has my granddaughter on a nebulizer twice a day and chest physio just as a "preventative" measure. She said it will never hurt her even if she doesn't need it.
 

candi81

New member
Hey, I was reading your post and I have to say..this is the CLOSEST that I've ever seen anyone to my son's mutations. He has DF508/c.2789+2_+3insA. I've been trying to find someone with his second mutation, but so far no luck. I realize that it's not always possible to predict the severity of the disease based on the mutations, but I just wanted to get a sense of how rare his mutation was. My son Andrew was diagnosed through newborn screenings, and just turned 1 a couple weeks ago. So far he is pancreatic sufficient and has had no lung issues.
 

candi81

New member
Hey, I was reading your post and I have to say..this is the CLOSEST that I've ever seen anyone to my son's mutations. He has DF508/c.2789+2_+3insA. I've been trying to find someone with his second mutation, but so far no luck. I realize that it's not always possible to predict the severity of the disease based on the mutations, but I just wanted to get a sense of how rare his mutation was. My son Andrew was diagnosed through newborn screenings, and just turned 1 a couple weeks ago. So far he is pancreatic sufficient and has had no lung issues.
 
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