Help please!!!!!

M

Mommafirst

Guest
Hi Patricia!!

Delta F508 is the most common mutation, I believe here in the US somewhere around 60% of all CFers have at least one Delta F508 mutation. I believe it is a class II missense mutation. A quick search on G551D shows me it is also a class II missense mutation. Both seem to be consistent with pancreatic insufficiency. Other than that, there isn't much definitive information about the impact of mutation on symptoms.

Someone else has posted several times the information about classes and how they interact. I wish I had more information for you, but sadly with CF there isn't a great deal of A + B = C kinda stuff.

BTW you are my age (okay, I'm gonna say I'm younger, but only a year -- LOL) and you are a grandma! How cool to be the young cool grandma!!! We are young, right? LOL!!!
 
M

Mommafirst

Guest
Hi Patricia!!

Delta F508 is the most common mutation, I believe here in the US somewhere around 60% of all CFers have at least one Delta F508 mutation. I believe it is a class II missense mutation. A quick search on G551D shows me it is also a class II missense mutation. Both seem to be consistent with pancreatic insufficiency. Other than that, there isn't much definitive information about the impact of mutation on symptoms.

Someone else has posted several times the information about classes and how they interact. I wish I had more information for you, but sadly with CF there isn't a great deal of A + B = C kinda stuff.

BTW you are my age (okay, I'm gonna say I'm younger, but only a year -- LOL) and you are a grandma! How cool to be the young cool grandma!!! We are young, right? LOL!!!
 
M

Mommafirst

Guest
Hi Patricia!!

Delta F508 is the most common mutation, I believe here in the US somewhere around 60% of all CFers have at least one Delta F508 mutation. I believe it is a class II missense mutation. A quick search on G551D shows me it is also a class II missense mutation. Both seem to be consistent with pancreatic insufficiency. Other than that, there isn't much definitive information about the impact of mutation on symptoms.

Someone else has posted several times the information about classes and how they interact. I wish I had more information for you, but sadly with CF there isn't a great deal of A + B = C kinda stuff.

BTW you are my age (okay, I'm gonna say I'm younger, but only a year -- LOL) and you are a grandma! How cool to be the young cool grandma!!! We are young, right? LOL!!!
 
M

Mommafirst

Guest
Hi Patricia!!

Delta F508 is the most common mutation, I believe here in the US somewhere around 60% of all CFers have at least one Delta F508 mutation. I believe it is a class II missense mutation. A quick search on G551D shows me it is also a class II missense mutation. Both seem to be consistent with pancreatic insufficiency. Other than that, there isn't much definitive information about the impact of mutation on symptoms.

Someone else has posted several times the information about classes and how they interact. I wish I had more information for you, but sadly with CF there isn't a great deal of A + B = C kinda stuff.

BTW you are my age (okay, I'm gonna say I'm younger, but only a year -- LOL) and you are a grandma! How cool to be the young cool grandma!!! We are young, right? LOL!!!
 
M

Mommafirst

Guest
Hi Patricia!!

Delta F508 is the most common mutation, I believe here in the US somewhere around 60% of all CFers have at least one Delta F508 mutation. I believe it is a class II missense mutation. A quick search on G551D shows me it is also a class II missense mutation. Both seem to be consistent with pancreatic insufficiency. Other than that, there isn't much definitive information about the impact of mutation on symptoms.

Someone else has posted several times the information about classes and how they interact. I wish I had more information for you, but sadly with CF there isn't a great deal of A + B = C kinda stuff.

BTW you are my age (okay, I'm gonna say I'm younger, but only a year -- LOL) and you are a grandma! How cool to be the young cool grandma!!! We are young, right? LOL!!!
 

Patricia12569

New member
Hey Heather! Thank you so much for your help <img src="i/expressions/face-icon-small-smile.gif" border="0"> I'm torn to pieces over this and I can't seem to find any info on this stuff that isn't written in pig Latin. The doctors did tell us that Cheyenne has no enzymes in her stool sample, but they are not going to start her on any until she starts eating solid foods.

We are only as young as we feel (maybe I shouldn't put it that way - sometimes I feel like I'm 70 <img src="i/expressions/face-icon-small-smile.gif" border="0">) It's nice being a grandma this young as I can get around and enjoy!
 

Patricia12569

New member
Hey Heather! Thank you so much for your help <img src="i/expressions/face-icon-small-smile.gif" border="0"> I'm torn to pieces over this and I can't seem to find any info on this stuff that isn't written in pig Latin. The doctors did tell us that Cheyenne has no enzymes in her stool sample, but they are not going to start her on any until she starts eating solid foods.

We are only as young as we feel (maybe I shouldn't put it that way - sometimes I feel like I'm 70 <img src="i/expressions/face-icon-small-smile.gif" border="0">) It's nice being a grandma this young as I can get around and enjoy!
 

Patricia12569

New member
Hey Heather! Thank you so much for your help <img src="i/expressions/face-icon-small-smile.gif" border="0"> I'm torn to pieces over this and I can't seem to find any info on this stuff that isn't written in pig Latin. The doctors did tell us that Cheyenne has no enzymes in her stool sample, but they are not going to start her on any until she starts eating solid foods.

We are only as young as we feel (maybe I shouldn't put it that way - sometimes I feel like I'm 70 <img src="i/expressions/face-icon-small-smile.gif" border="0">) It's nice being a grandma this young as I can get around and enjoy!
 

Patricia12569

New member
Hey Heather! Thank you so much for your help <img src="i/expressions/face-icon-small-smile.gif" border="0"> I'm torn to pieces over this and I can't seem to find any info on this stuff that isn't written in pig Latin. The doctors did tell us that Cheyenne has no enzymes in her stool sample, but they are not going to start her on any until she starts eating solid foods.

We are only as young as we feel (maybe I shouldn't put it that way - sometimes I feel like I'm 70 <img src="i/expressions/face-icon-small-smile.gif" border="0">) It's nice being a grandma this young as I can get around and enjoy!
 

Patricia12569

New member
Hey Heather! Thank you so much for your help <img src="i/expressions/face-icon-small-smile.gif" border="0"> I'm torn to pieces over this and I can't seem to find any info on this stuff that isn't written in pig Latin. The doctors did tell us that Cheyenne has no enzymes in her stool sample, but they are not going to start her on any until she starts eating solid foods.

We are only as young as we feel (maybe I shouldn't put it that way - sometimes I feel like I'm 70 <img src="i/expressions/face-icon-small-smile.gif" border="0">) It's nice being a grandma this young as I can get around and enjoy!
 

Alyssa

New member
The Delta F508 is the most common CF gene out there. From what I read, it sounds like the G551D is the third most common gene.

I don't think anyone can give you a clear cut answer as to "what they will effect" ... nobody has a crystal ball when it comes to CF. That's part of what's terrible is you just never know for sure what's going to happen until it happens or even if it happens at all -- some people have terrible trouble with their sinuses while others do not, some people are pancreatic sufficient, while others are not, some people have liver & gallbladder problems others do not.... you get the picture.

Generally speaking all CF genes cause a problem with the chloride channels, they are either impaired or not functioning at all -- this is what causes the lungs to hang onto the mucus, which in turn causes the bacteria to settle in and call it home, which causes an infection, which causes the body to send white blood cells to the infection, which die and cause the lung tissue damage..... so what will her CF genes effect???? generally speaking the same as everyone with CF....most likely.... lung and pancreas.

From what I read on one page:
<a target=_blank class=ftalternatingbarlinklarge href="http://ajpcell.physiology.org/cgi/content/full/277/4/C833
">http://ajpcell.physiology.org/...ntent/full/277/4/C833
</a>
the G551D mutation is known for pancreatic sufficiency until a later age -- then it sounds like it may change to pancreatic insufficiency. It also is associated with a lower incidence of meconium ileus, (which usually either happens or doesn't happen at birth, so that is of little use to you now.)

I also learned from another page that the Delta F508 is a class II mutation and the G551D is a class III mutation. There are 5 classes -- one being the most severe and 5 being the least severe (I think). I believe they are classed according to how impaired the channel is. My only other knowledge about classes is the class 4 & 5 are referred to as "mild variant genes".

Hope that helps -- I'm sure there are others on the site with more knowledge, but that's enough to get you started :)
 

Alyssa

New member
The Delta F508 is the most common CF gene out there. From what I read, it sounds like the G551D is the third most common gene.

I don't think anyone can give you a clear cut answer as to "what they will effect" ... nobody has a crystal ball when it comes to CF. That's part of what's terrible is you just never know for sure what's going to happen until it happens or even if it happens at all -- some people have terrible trouble with their sinuses while others do not, some people are pancreatic sufficient, while others are not, some people have liver & gallbladder problems others do not.... you get the picture.

Generally speaking all CF genes cause a problem with the chloride channels, they are either impaired or not functioning at all -- this is what causes the lungs to hang onto the mucus, which in turn causes the bacteria to settle in and call it home, which causes an infection, which causes the body to send white blood cells to the infection, which die and cause the lung tissue damage..... so what will her CF genes effect???? generally speaking the same as everyone with CF....most likely.... lung and pancreas.

From what I read on one page:
<a target=_blank class=ftalternatingbarlinklarge href="http://ajpcell.physiology.org/cgi/content/full/277/4/C833
">http://ajpcell.physiology.org/...ntent/full/277/4/C833
</a>
the G551D mutation is known for pancreatic sufficiency until a later age -- then it sounds like it may change to pancreatic insufficiency. It also is associated with a lower incidence of meconium ileus, (which usually either happens or doesn't happen at birth, so that is of little use to you now.)

I also learned from another page that the Delta F508 is a class II mutation and the G551D is a class III mutation. There are 5 classes -- one being the most severe and 5 being the least severe (I think). I believe they are classed according to how impaired the channel is. My only other knowledge about classes is the class 4 & 5 are referred to as "mild variant genes".

Hope that helps -- I'm sure there are others on the site with more knowledge, but that's enough to get you started :)
 

Alyssa

New member
The Delta F508 is the most common CF gene out there. From what I read, it sounds like the G551D is the third most common gene.

I don't think anyone can give you a clear cut answer as to "what they will effect" ... nobody has a crystal ball when it comes to CF. That's part of what's terrible is you just never know for sure what's going to happen until it happens or even if it happens at all -- some people have terrible trouble with their sinuses while others do not, some people are pancreatic sufficient, while others are not, some people have liver & gallbladder problems others do not.... you get the picture.

Generally speaking all CF genes cause a problem with the chloride channels, they are either impaired or not functioning at all -- this is what causes the lungs to hang onto the mucus, which in turn causes the bacteria to settle in and call it home, which causes an infection, which causes the body to send white blood cells to the infection, which die and cause the lung tissue damage..... so what will her CF genes effect???? generally speaking the same as everyone with CF....most likely.... lung and pancreas.

From what I read on one page:
<a target=_blank class=ftalternatingbarlinklarge href="http://ajpcell.physiology.org/cgi/content/full/277/4/C833
">http://ajpcell.physiology.org/...ntent/full/277/4/C833
</a>
the G551D mutation is known for pancreatic sufficiency until a later age -- then it sounds like it may change to pancreatic insufficiency. It also is associated with a lower incidence of meconium ileus, (which usually either happens or doesn't happen at birth, so that is of little use to you now.)

I also learned from another page that the Delta F508 is a class II mutation and the G551D is a class III mutation. There are 5 classes -- one being the most severe and 5 being the least severe (I think). I believe they are classed according to how impaired the channel is. My only other knowledge about classes is the class 4 & 5 are referred to as "mild variant genes".

Hope that helps -- I'm sure there are others on the site with more knowledge, but that's enough to get you started :)
 

Alyssa

New member
The Delta F508 is the most common CF gene out there. From what I read, it sounds like the G551D is the third most common gene.

I don't think anyone can give you a clear cut answer as to "what they will effect" ... nobody has a crystal ball when it comes to CF. That's part of what's terrible is you just never know for sure what's going to happen until it happens or even if it happens at all -- some people have terrible trouble with their sinuses while others do not, some people are pancreatic sufficient, while others are not, some people have liver & gallbladder problems others do not.... you get the picture.

Generally speaking all CF genes cause a problem with the chloride channels, they are either impaired or not functioning at all -- this is what causes the lungs to hang onto the mucus, which in turn causes the bacteria to settle in and call it home, which causes an infection, which causes the body to send white blood cells to the infection, which die and cause the lung tissue damage..... so what will her CF genes effect???? generally speaking the same as everyone with CF....most likely.... lung and pancreas.

From what I read on one page:
<a target=_blank class=ftalternatingbarlinklarge href="http://ajpcell.physiology.org/cgi/content/full/277/4/C833
">http://ajpcell.physiology.org/...ntent/full/277/4/C833
</a>
the G551D mutation is known for pancreatic sufficiency until a later age -- then it sounds like it may change to pancreatic insufficiency. It also is associated with a lower incidence of meconium ileus, (which usually either happens or doesn't happen at birth, so that is of little use to you now.)

I also learned from another page that the Delta F508 is a class II mutation and the G551D is a class III mutation. There are 5 classes -- one being the most severe and 5 being the least severe (I think). I believe they are classed according to how impaired the channel is. My only other knowledge about classes is the class 4 & 5 are referred to as "mild variant genes".

Hope that helps -- I'm sure there are others on the site with more knowledge, but that's enough to get you started :)
 

Alyssa

New member
The Delta F508 is the most common CF gene out there. From what I read, it sounds like the G551D is the third most common gene.

I don't think anyone can give you a clear cut answer as to "what they will effect" ... nobody has a crystal ball when it comes to CF. That's part of what's terrible is you just never know for sure what's going to happen until it happens or even if it happens at all -- some people have terrible trouble with their sinuses while others do not, some people are pancreatic sufficient, while others are not, some people have liver & gallbladder problems others do not.... you get the picture.

Generally speaking all CF genes cause a problem with the chloride channels, they are either impaired or not functioning at all -- this is what causes the lungs to hang onto the mucus, which in turn causes the bacteria to settle in and call it home, which causes an infection, which causes the body to send white blood cells to the infection, which die and cause the lung tissue damage..... so what will her CF genes effect???? generally speaking the same as everyone with CF....most likely.... lung and pancreas.

From what I read on one page:
<a target=_blank class=ftalternatingbarlinklarge href="http://ajpcell.physiology.org/cgi/content/full/277/4/C833
">http://ajpcell.physiology.org/...ntent/full/277/4/C833
</a>
the G551D mutation is known for pancreatic sufficiency until a later age -- then it sounds like it may change to pancreatic insufficiency. It also is associated with a lower incidence of meconium ileus, (which usually either happens or doesn't happen at birth, so that is of little use to you now.)

I also learned from another page that the Delta F508 is a class II mutation and the G551D is a class III mutation. There are 5 classes -- one being the most severe and 5 being the least severe (I think). I believe they are classed according to how impaired the channel is. My only other knowledge about classes is the class 4 & 5 are referred to as "mild variant genes".

Hope that helps -- I'm sure there are others on the site with more knowledge, but that's enough to get you started :)
 
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