So which mutation do you have

lilmac7

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Diane</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>



Hi,







i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?







25, cf, digestive insufficient, lung middle problems</end quote></div>



hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x</end quote></div>


Yea, that's very interesting! I too am delta f508 and r553x, and my grandfather on my father's side came from Germany, my last name is actually Whorms - from a town in Germany I believe. My father nor mother has ever been tested to see who carries what. Well the funny thing is my father has once disowned me claiming he's been tested and he doesn't carry the gene and apparently he knows that there's no others in the family that has had CF so my mother was doing something she shouldn't have been doing....looong story, needless to say me and my father don't speak anymore and haven't for a few years, now that I have a little bit of confirmation it would be interesting to see him REALLY get tested or better yet see the results of this test he claims he's done!

Anyway, I'm 24 (25 in February), no CFRD, I too, Diane, have B. Cepacia, and weight training is my life - I hope to compete in another body building competition coming in April
 

lilmac7

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Diane</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>



Hi,







i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?







25, cf, digestive insufficient, lung middle problems</end quote></div>



hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x</end quote></div>


Yea, that's very interesting! I too am delta f508 and r553x, and my grandfather on my father's side came from Germany, my last name is actually Whorms - from a town in Germany I believe. My father nor mother has ever been tested to see who carries what. Well the funny thing is my father has once disowned me claiming he's been tested and he doesn't carry the gene and apparently he knows that there's no others in the family that has had CF so my mother was doing something she shouldn't have been doing....looong story, needless to say me and my father don't speak anymore and haven't for a few years, now that I have a little bit of confirmation it would be interesting to see him REALLY get tested or better yet see the results of this test he claims he's done!

Anyway, I'm 24 (25 in February), no CFRD, I too, Diane, have B. Cepacia, and weight training is my life - I hope to compete in another body building competition coming in April
 

lilmac7

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Diane</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>



Hi,







i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?







25, cf, digestive insufficient, lung middle problems</end quote></div>



hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x</end quote></div>


Yea, that's very interesting! I too am delta f508 and r553x, and my grandfather on my father's side came from Germany, my last name is actually Whorms - from a town in Germany I believe. My father nor mother has ever been tested to see who carries what. Well the funny thing is my father has once disowned me claiming he's been tested and he doesn't carry the gene and apparently he knows that there's no others in the family that has had CF so my mother was doing something she shouldn't have been doing....looong story, needless to say me and my father don't speak anymore and haven't for a few years, now that I have a little bit of confirmation it would be interesting to see him REALLY get tested or better yet see the results of this test he claims he's done!

Anyway, I'm 24 (25 in February), no CFRD, I too, Diane, have B. Cepacia, and weight training is my life - I hope to compete in another body building competition coming in April
 

Oli

New member
G551D eh? I have G551S which I know is meant to be the very mild one of my two mutations. The D being fairly common but my one not so common. What does the D and S represent?
 

Oli

New member
G551D eh? I have G551S which I know is meant to be the very mild one of my two mutations. The D being fairly common but my one not so common. What does the D and S represent?
 

Oli

New member
G551D eh? I have G551S which I know is meant to be the very mild one of my two mutations. The D being fairly common but my one not so common. What does the D and S represent?
 
T

tammykrumrey

Guest
My daughters have DelF508 and 1898+1G>A. Both are pancre. insuff. but are both just under the 50% for weight and 25% for height. Both girls have PFT's in the low 90s on average. The older one has moderate lung damage in her upper right lobe, and some thickening of the walls. The younger one has picture perfect lungs<img src="i/expressions/face-icon-small-smile.gif" border="0"> Both girls culture staph, and MRSA, and the younger one PA (although last culture shows no PA, but until I get two more clear ones I am not getting overly excited).
Both girls do really well, and I am going to do what I can to help it stay that way<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
T

tammykrumrey

Guest
My daughters have DelF508 and 1898+1G>A. Both are pancre. insuff. but are both just under the 50% for weight and 25% for height. Both girls have PFT's in the low 90s on average. The older one has moderate lung damage in her upper right lobe, and some thickening of the walls. The younger one has picture perfect lungs<img src="i/expressions/face-icon-small-smile.gif" border="0"> Both girls culture staph, and MRSA, and the younger one PA (although last culture shows no PA, but until I get two more clear ones I am not getting overly excited).
Both girls do really well, and I am going to do what I can to help it stay that way<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
T

tammykrumrey

Guest
My daughters have DelF508 and 1898+1G>A. Both are pancre. insuff. but are both just under the 50% for weight and 25% for height. Both girls have PFT's in the low 90s on average. The older one has moderate lung damage in her upper right lobe, and some thickening of the walls. The younger one has picture perfect lungs<img src="i/expressions/face-icon-small-smile.gif" border="0"> Both girls culture staph, and MRSA, and the younger one PA (although last culture shows no PA, but until I get two more clear ones I am not getting overly excited).
Both girls do really well, and I am going to do what I can to help it stay that way<img src="i/expressions/face-icon-small-smile.gif" border="0">
 

Icklerose

New member
I was diagnosed at 6 weeks of age with CF and my mutations are Delta508 and A455E. I am pancreatic sufficient, suffer from chronic constipation and i get frequent chest infections and grow the bacterium Stenotrophomonas Maltophilia. I have a 19 year old son (wocf).
 

Icklerose

New member
I was diagnosed at 6 weeks of age with CF and my mutations are Delta508 and A455E. I am pancreatic sufficient, suffer from chronic constipation and i get frequent chest infections and grow the bacterium Stenotrophomonas Maltophilia. I have a 19 year old son (wocf).
 

Icklerose

New member
I was diagnosed at 6 weeks of age with CF and my mutations are Delta508 and A455E. I am pancreatic sufficient, suffer from chronic constipation and i get frequent chest infections and grow the bacterium Stenotrophomonas Maltophilia. I have a 19 year old son (wocf).
 

john81john

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Diane</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>



Hi,







i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?







25, cf, digestive insufficient, lung middle problems</end quote></div>



hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x</end quote></div>


Hi Diane,

well it looks that the genetic in CF really works... I was born in Czech republic (Prague is capital city - borders with Germany, Poland, Austria). The German, Slavonic and Celtic tribes were mixed in central Europe, so I have those two mutations. Among CF patients in Czech republic I am alone with R553X, but there are many patients with R553X in Germany and Switzerland ...
Its interesting, isn´t it?
I hope you are ok, you have my mutation <img src="i/expressions/face-icon-small-smile.gif" border="0">

Maybe it will be interesting for you to look at new developed drug called PTC 124, its for CF patients with one or both mutation ending with X (nonsence mutations)...
 

john81john

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Diane</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>



Hi,







i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?







25, cf, digestive insufficient, lung middle problems</end quote></div>



hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x</end quote></div>


Hi Diane,

well it looks that the genetic in CF really works... I was born in Czech republic (Prague is capital city - borders with Germany, Poland, Austria). The German, Slavonic and Celtic tribes were mixed in central Europe, so I have those two mutations. Among CF patients in Czech republic I am alone with R553X, but there are many patients with R553X in Germany and Switzerland ...
Its interesting, isn´t it?
I hope you are ok, you have my mutation <img src="i/expressions/face-icon-small-smile.gif" border="0">

Maybe it will be interesting for you to look at new developed drug called PTC 124, its for CF patients with one or both mutation ending with X (nonsence mutations)...
 

john81john

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Diane</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>



Hi,







i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?







25, cf, digestive insufficient, lung middle problems</end quote></div>



hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x</end quote></div>


Hi Diane,

well it looks that the genetic in CF really works... I was born in Czech republic (Prague is capital city - borders with Germany, Poland, Austria). The German, Slavonic and Celtic tribes were mixed in central Europe, so I have those two mutations. Among CF patients in Czech republic I am alone with R553X, but there are many patients with R553X in Germany and Switzerland ...
Its interesting, isn´t it?
I hope you are ok, you have my mutation <img src="i/expressions/face-icon-small-smile.gif" border="0">

Maybe it will be interesting for you to look at new developed drug called PTC 124, its for CF patients with one or both mutation ending with X (nonsence mutations)...
 

Pete

New member
My mutation is funny looking little toes....and a single grey spot on the side of my head <img src="i/expressions/face-icon-small-wink.gif" border="0">
 

Pete

New member
My mutation is funny looking little toes....and a single grey spot on the side of my head <img src="i/expressions/face-icon-small-wink.gif" border="0">
 

Pete

New member
My mutation is funny looking little toes....and a single grey spot on the side of my head <img src="i/expressions/face-icon-small-wink.gif" border="0">
 

ramymiller

New member
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy
 

ramymiller

New member
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy
 
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