So which mutation do you have

anonymous

New member
I have 2 Delta F508 mutations. Healthwise - PFTs FVC 40% and FEV1 30%, digestive involvement - and CF related diabetes. Things were semi normal for me growing up. I was diagnosed at 1 yr old and went in the hospital roughly once a year through the age of 20-21. Since switching to adult care I have seen an increase in hospital stays and IV treatment as well as a progression of things all around. I am 24 now and am going to be starting the testing for transplant evaluation in the coming months.

Life wise - well at this point CF affects every aspect of my life, but I am handling it okay. I can not work - I tried earlier in the year and became terribly sick and ended up in the hospital after only 1.5 months. I am engaged - with no date set - and do what I can. Physical activities are very limited or difficult. I try to do what I used to do but in most instances it takes much longer to accomplish things than before, like climbing a flight of stairs takes a while - as well as several break along the way. I had limitations in the past, but I didn't pay to much attention to them, now they kind of smack me in the face lol.

Happy Holidays,
Lindsey
 

Augustmom0003

New member
My son has double delta F508. I diagnosed him around 2 months old due to digestive issues. He was diagnosed by sweat test at 3 1/2 months old. (Took about that long to convince everyone to test him!) His digestive issues have gotten better as he's gotten older (and once he got enzymes, he was a whole, new, fat baby! lol!) He's just had his "annual" visit and is doing very well! Thank God!
 

Augustmom0003

New member
My son has double delta F508. I diagnosed him around 2 months old due to digestive issues. He was diagnosed by sweat test at 3 1/2 months old. (Took about that long to convince everyone to test him!) His digestive issues have gotten better as he's gotten older (and once he got enzymes, he was a whole, new, fat baby! lol!) He's just had his "annual" visit and is doing very well! Thank God!
 

Augustmom0003

New member
My son has double delta F508. I diagnosed him around 2 months old due to digestive issues. He was diagnosed by sweat test at 3 1/2 months old. (Took about that long to convince everyone to test him!) His digestive issues have gotten better as he's gotten older (and once he got enzymes, he was a whole, new, fat baby! lol!) He's just had his "annual" visit and is doing very well! Thank God!
 

thelizardqueen

New member
I have Double Delta F508. I've only recently started to have lung issues (about 10 years now), was diagnosed at 6 weeks of age, and have digestive issues. I also have Diabetes, and my FEV1 right now is sitting at 65%
 

thelizardqueen

New member
I have Double Delta F508. I've only recently started to have lung issues (about 10 years now), was diagnosed at 6 weeks of age, and have digestive issues. I also have Diabetes, and my FEV1 right now is sitting at 65%
 

thelizardqueen

New member
I have Double Delta F508. I've only recently started to have lung issues (about 10 years now), was diagnosed at 6 weeks of age, and have digestive issues. I also have Diabetes, and my FEV1 right now is sitting at 65%
 

Ratatosk

Administrator
Staff member
Max is double delta f508, too. About 12 hours after he was born he started hurling green stuff. Had a bowel obstruction caused by meconium illeus. Diagnosed with a blood test at about 5 days old. Passed his sweat test with flying colors. Mostly digestive issues, although we beat him 3 times a day to keep his lungs healthy. Early on he had more sinus issues, infections. Has cultured pseudo and HIB.
 

Ratatosk

Administrator
Staff member
Max is double delta f508, too. About 12 hours after he was born he started hurling green stuff. Had a bowel obstruction caused by meconium illeus. Diagnosed with a blood test at about 5 days old. Passed his sweat test with flying colors. Mostly digestive issues, although we beat him 3 times a day to keep his lungs healthy. Early on he had more sinus issues, infections. Has cultured pseudo and HIB.
 

Ratatosk

Administrator
Staff member
Max is double delta f508, too. About 12 hours after he was born he started hurling green stuff. Had a bowel obstruction caused by meconium illeus. Diagnosed with a blood test at about 5 days old. Passed his sweat test with flying colors. Mostly digestive issues, although we beat him 3 times a day to keep his lungs healthy. Early on he had more sinus issues, infections. Has cultured pseudo and HIB.
 

john81john

New member
Hi,

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

25, cf, digestive insufficient, lung middle problems
 

john81john

New member
Hi,

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

25, cf, digestive insufficient, lung middle problems
 

john81john

New member
Hi,

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

25, cf, digestive insufficient, lung middle problems
 

wuffles

New member
I'm a plain ol' double Delta F508 girl. Affects my lungs, digestion and sinuses. My FEV1 is 94% and my FVC is 90% which sounds high but it's partly due to the fact that the bugs are still sensitive to most oral antibiotics, and I still feel breathless a lot of the time [asthma probably doesn't help with that].

Life wise, I work full-time and live with my boyfriend. I also play competitive sport. The main thing that if affects is my socialisation -- I tend not to go out much because I can't stand being in smoky environments or where everyone is sick, which means that people just stop inviting me after a while.
 

wuffles

New member
I'm a plain ol' double Delta F508 girl. Affects my lungs, digestion and sinuses. My FEV1 is 94% and my FVC is 90% which sounds high but it's partly due to the fact that the bugs are still sensitive to most oral antibiotics, and I still feel breathless a lot of the time [asthma probably doesn't help with that].

Life wise, I work full-time and live with my boyfriend. I also play competitive sport. The main thing that if affects is my socialisation -- I tend not to go out much because I can't stand being in smoky environments or where everyone is sick, which means that people just stop inviting me after a while.
 

wuffles

New member
I'm a plain ol' double Delta F508 girl. Affects my lungs, digestion and sinuses. My FEV1 is 94% and my FVC is 90% which sounds high but it's partly due to the fact that the bugs are still sensitive to most oral antibiotics, and I still feel breathless a lot of the time [asthma probably doesn't help with that].

Life wise, I work full-time and live with my boyfriend. I also play competitive sport. The main thing that if affects is my socialisation -- I tend not to go out much because I can't stand being in smoky environments or where everyone is sick, which means that people just stop inviting me after a while.
 

Diane

New member
<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
 
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