Anyone with single mutation w/CF symptoms?

BarbaraW

New member
My kids each have 1 mutation - s1235r. They both have a lot of pancreatic stuff going on, as well as some respitory issues. DS tends to get pnuemonia a few times a year, and DD has a lot of sinus issues. Right now they are labled as CRMS, and we see pulm every 4 months. He feels that they are just carriers. I don't agree, am tired of fighting with them.
 

samb

New member
My sister carries a single gene mnutation 3905inst and she has been to see an adult cf doctor. he has said she has a gene disfunction and that it causes symptoms. She had a high sweat test result and has always had constant bronchittis, pneumonias, and sinus problems. She has always been sick as a child and now she is 24 and when I found out my daughter had cf that is when it all started to make sence. She has been tested for everything under the sun prior to my daughters diagnoses and he results were always negative. Its nice to know what she finally has wrong as well.
 

samb

New member
My sister carries a single gene mnutation 3905inst and she has been to see an adult cf doctor. he has said she has a gene disfunction and that it causes symptoms. She had a high sweat test result and has always had constant bronchittis, pneumonias, and sinus problems. She has always been sick as a child and now she is 24 and when I found out my daughter had cf that is when it all started to make sence. She has been tested for everything under the sun prior to my daughters diagnoses and he results were always negative. Its nice to know what she finally has wrong as well.
 

samb

New member
I should mention I also have had my gall bladder removed and pancreatitus as well as constant bronchittis. Strange to know that as a carrier I have symptoms too.
 

samb

New member
I should mention I also have had my gall bladder removed and pancreatitus as well as constant bronchittis. Strange to know that as a carrier I have symptoms too.
 

canilucas

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>BarbaraW</b></i> My kids each have 1 mutation - s1235r. They both have a lot of pancreatic stuff going on, as well as some respitory issues. DS tends to get pnuemonia a few times a year, and DD has a lot of sinus issues. Right now they are labled as CRMS, and we see pulm every 4 months. He feels that they are just carriers. I don't agree, am tired of fighting with them.</end quote>


WHAT IS CRMS?
i AM SORRY TO HEAR HOW EXHAUSTED YOU SOUND WITH FIGHTING WITH THE DOCS.
I FEEL THE SAME WAY TOO.
 

canilucas

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>BarbaraW</b></i> My kids each have 1 mutation - s1235r. They both have a lot of pancreatic stuff going on, as well as some respitory issues. DS tends to get pnuemonia a few times a year, and DD has a lot of sinus issues. Right now they are labled as CRMS, and we see pulm every 4 months. He feels that they are just carriers. I don't agree, am tired of fighting with them.</end quote>


WHAT IS CRMS?
i AM SORRY TO HEAR HOW EXHAUSTED YOU SOUND WITH FIGHTING WITH THE DOCS.
I FEEL THE SAME WAY TOO.
 
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