F508 and W1282x

R

rnordlnd

New member
I finally figured out how to start my own topic, and a few have replied in other threads.
Anyone else with more info would be greatly appreciated.


I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I finally figured out how to start my own topic, and a few have replied in other threads.
Anyone else with more info would be greatly appreciated.


I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I finally figured out how to start my own topic, and a few have replied in other threads.
Anyone else with more info would be greatly appreciated.


I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I finally figured out how to start my own topic, and a few have replied in other threads.
Anyone else with more info would be greatly appreciated.


I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I finally figured out how to start my own topic, and a few have replied in other threads.
Anyone else with more info would be greatly appreciated.


I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
N

NoExcuses

New member
CF genes aren't generally correlated with clinical outcome.

Many CF patients have the exact same genes (even siblings) and they live to be varying ages.

Clinical outcomes really depend on quality of care, compliance with medication, and modifier genes.

Check out this article.... it's about the CF Center in the US that has the highest life expectancy....

<a target=_blank class=ftalternatingbarlinklarge href="http://www.newyorker.com/archive/2004/12/06/041206fa_fact">http://www.newyorker.com/archi...04/12/06/041206fa_fact</a>
 
N

NoExcuses

New member
CF genes aren't generally correlated with clinical outcome.

Many CF patients have the exact same genes (even siblings) and they live to be varying ages.

Clinical outcomes really depend on quality of care, compliance with medication, and modifier genes.

Check out this article.... it's about the CF Center in the US that has the highest life expectancy....

<a target=_blank class=ftalternatingbarlinklarge href="http://www.newyorker.com/archive/2004/12/06/041206fa_fact">http://www.newyorker.com/archi...04/12/06/041206fa_fact</a>
 
N

NoExcuses

New member
CF genes aren't generally correlated with clinical outcome.

Many CF patients have the exact same genes (even siblings) and they live to be varying ages.

Clinical outcomes really depend on quality of care, compliance with medication, and modifier genes.

Check out this article.... it's about the CF Center in the US that has the highest life expectancy....

<a target=_blank class=ftalternatingbarlinklarge href="http://www.newyorker.com/archive/2004/12/06/041206fa_fact">http://www.newyorker.com/archi...04/12/06/041206fa_fact</a>
 
N

NoExcuses

New member
CF genes aren't generally correlated with clinical outcome.

Many CF patients have the exact same genes (even siblings) and they live to be varying ages.

Clinical outcomes really depend on quality of care, compliance with medication, and modifier genes.

Check out this article.... it's about the CF Center in the US that has the highest life expectancy....

<a target=_blank class=ftalternatingbarlinklarge href="http://www.newyorker.com/archive/2004/12/06/041206fa_fact">http://www.newyorker.com/archi...04/12/06/041206fa_fact</a>
 
N

NoExcuses

New member
CF genes aren't generally correlated with clinical outcome.

Many CF patients have the exact same genes (even siblings) and they live to be varying ages.

Clinical outcomes really depend on quality of care, compliance with medication, and modifier genes.

Check out this article.... it's about the CF Center in the US that has the highest life expectancy....

<a target=_blank class=ftalternatingbarlinklarge href="http://www.newyorker.com/archive/2004/12/06/041206fa_fact">http://www.newyorker.com/archi...04/12/06/041206fa_fact</a>
 
H

hopefullmom

New member
Hello - My daughter has the same mutations as your grandaughter, Maci is five years old and was not diagnosed until she was 3yrs old. It is wonderful that they found this while she is still so young, the faster the treatment begins the better. My little girl has been pretty healthy the majority of the time, but it comes with hard work. Maci is very good about doing her treatments, at first she did not like doing them at all, a bit of advice is to not ever let them get away with not doing the treatments, it has become a way of life for Maci and she knows it is not a choice it is a have to. If your daughter needs anyone to talk to I will help her as much as I can. They are doing alot of research on the gene W1282X and we hope in the near future there will be a medicine they can take to control CF alot better. The research is being done on the pill PTC124 and it is only going to work for X mutations, which your granddaughter has one of them. I hope this helps, and is not to much info. Mom to Maci
 
H

hopefullmom

New member
Hello - My daughter has the same mutations as your grandaughter, Maci is five years old and was not diagnosed until she was 3yrs old. It is wonderful that they found this while she is still so young, the faster the treatment begins the better. My little girl has been pretty healthy the majority of the time, but it comes with hard work. Maci is very good about doing her treatments, at first she did not like doing them at all, a bit of advice is to not ever let them get away with not doing the treatments, it has become a way of life for Maci and she knows it is not a choice it is a have to. If your daughter needs anyone to talk to I will help her as much as I can. They are doing alot of research on the gene W1282X and we hope in the near future there will be a medicine they can take to control CF alot better. The research is being done on the pill PTC124 and it is only going to work for X mutations, which your granddaughter has one of them. I hope this helps, and is not to much info. Mom to Maci
 
H

hopefullmom

New member
Hello - My daughter has the same mutations as your grandaughter, Maci is five years old and was not diagnosed until she was 3yrs old. It is wonderful that they found this while she is still so young, the faster the treatment begins the better. My little girl has been pretty healthy the majority of the time, but it comes with hard work. Maci is very good about doing her treatments, at first she did not like doing them at all, a bit of advice is to not ever let them get away with not doing the treatments, it has become a way of life for Maci and she knows it is not a choice it is a have to. If your daughter needs anyone to talk to I will help her as much as I can. They are doing alot of research on the gene W1282X and we hope in the near future there will be a medicine they can take to control CF alot better. The research is being done on the pill PTC124 and it is only going to work for X mutations, which your granddaughter has one of them. I hope this helps, and is not to much info. Mom to Maci
 
H

hopefullmom

New member
Hello - My daughter has the same mutations as your grandaughter, Maci is five years old and was not diagnosed until she was 3yrs old. It is wonderful that they found this while she is still so young, the faster the treatment begins the better. My little girl has been pretty healthy the majority of the time, but it comes with hard work. Maci is very good about doing her treatments, at first she did not like doing them at all, a bit of advice is to not ever let them get away with not doing the treatments, it has become a way of life for Maci and she knows it is not a choice it is a have to. If your daughter needs anyone to talk to I will help her as much as I can. They are doing alot of research on the gene W1282X and we hope in the near future there will be a medicine they can take to control CF alot better. The research is being done on the pill PTC124 and it is only going to work for X mutations, which your granddaughter has one of them. I hope this helps, and is not to much info. Mom to Maci
 
H

hopefullmom

New member
Hello - My daughter has the same mutations as your grandaughter, Maci is five years old and was not diagnosed until she was 3yrs old. It is wonderful that they found this while she is still so young, the faster the treatment begins the better. My little girl has been pretty healthy the majority of the time, but it comes with hard work. Maci is very good about doing her treatments, at first she did not like doing them at all, a bit of advice is to not ever let them get away with not doing the treatments, it has become a way of life for Maci and she knows it is not a choice it is a have to. If your daughter needs anyone to talk to I will help her as much as I can. They are doing alot of research on the gene W1282X and we hope in the near future there will be a medicine they can take to control CF alot better. The research is being done on the pill PTC124 and it is only going to work for X mutations, which your granddaughter has one of them. I hope this helps, and is not to much info. Mom to Maci
 
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