So which mutation do you have

T

tuelman

New member
I have the <delta>2184 Mutation (not 508) and so far since I was diagnosed in 2003 when I was 17(I'm 20 now). My lungs have been only somewhat invovled. I get a little sputum, mostly clearish, and a little coughing. When my lungs get imflammed, I go to the hospital to get them cleared out ASAP to prevent any damage. Only the very top right part (about the size of a quarter) of my right lung has been scarred, and my FEV1 tops out at 93% and my FVC is at 111% as of last May. My gut works fine so far etc. My Doctors have theorized that my CFTR gene is functioning, but not as well as it should.

My question to all of you is what is your mutation and how has it affected you both health wise and life wise.
 
T

tuelman

New member
I have the <delta>2184 Mutation (not 508) and so far since I was diagnosed in 2003 when I was 17(I'm 20 now). My lungs have been only somewhat invovled. I get a little sputum, mostly clearish, and a little coughing. When my lungs get imflammed, I go to the hospital to get them cleared out ASAP to prevent any damage. Only the very top right part (about the size of a quarter) of my right lung has been scarred, and my FEV1 tops out at 93% and my FVC is at 111% as of last May. My gut works fine so far etc. My Doctors have theorized that my CFTR gene is functioning, but not as well as it should.

My question to all of you is what is your mutation and how has it affected you both health wise and life wise.
 
T

tuelman

New member
I have the <delta>2184 Mutation (not 508) and so far since I was diagnosed in 2003 when I was 17(I'm 20 now). My lungs have been only somewhat invovled. I get a little sputum, mostly clearish, and a little coughing. When my lungs get imflammed, I go to the hospital to get them cleared out ASAP to prevent any damage. Only the very top right part (about the size of a quarter) of my right lung has been scarred, and my FEV1 tops out at 93% and my FVC is at 111% as of last May. My gut works fine so far etc. My Doctors have theorized that my CFTR gene is functioning, but not as well as it should.

My question to all of you is what is your mutation and how has it affected you both health wise and life wise.
 
A

alegris

Guest
I have DeltaF508 and 3396delC. Last I heard, I was the only person with the 3396delC. Yay me!! I was diagnosed when I was 8. Very mild digestive component of the disease. Lungs could be better (FEV1 ~60%, FVC ~80%). I just started taking TOBI though and haven't been to an appointment since I've started so hopefully those numbers will be higher now. I mean I feel like they must be higher because even doing daily things like walking up stairs seems alot different. I've never been hospitalized, never had a PICC, don't own a vest (BOO Canada!!), culture Pseudo and Staph...

Life wise - I'm married, work full time as a chemist, great supportive family and friends. And that's me.

Adrienne - 24/f/CF
 
A

alegris

Guest
I have DeltaF508 and 3396delC. Last I heard, I was the only person with the 3396delC. Yay me!! I was diagnosed when I was 8. Very mild digestive component of the disease. Lungs could be better (FEV1 ~60%, FVC ~80%). I just started taking TOBI though and haven't been to an appointment since I've started so hopefully those numbers will be higher now. I mean I feel like they must be higher because even doing daily things like walking up stairs seems alot different. I've never been hospitalized, never had a PICC, don't own a vest (BOO Canada!!), culture Pseudo and Staph...

Life wise - I'm married, work full time as a chemist, great supportive family and friends. And that's me.

Adrienne - 24/f/CF
 
A

alegris

Guest
I have DeltaF508 and 3396delC. Last I heard, I was the only person with the 3396delC. Yay me!! I was diagnosed when I was 8. Very mild digestive component of the disease. Lungs could be better (FEV1 ~60%, FVC ~80%). I just started taking TOBI though and haven't been to an appointment since I've started so hopefully those numbers will be higher now. I mean I feel like they must be higher because even doing daily things like walking up stairs seems alot different. I've never been hospitalized, never had a PICC, don't own a vest (BOO Canada!!), culture Pseudo and Staph...

Life wise - I'm married, work full time as a chemist, great supportive family and friends. And that's me.

Adrienne - 24/f/CF
 
J

JazzysMom

New member
I have double df508. I was dx at 7 after years of belly aches, diahrea etc. My lungs didnt really kick in until a few years after my dx. Today I would say they are about equal, but it took time for that to happen.
 
J

JazzysMom

New member
I have double df508. I was dx at 7 after years of belly aches, diahrea etc. My lungs didnt really kick in until a few years after my dx. Today I would say they are about equal, but it took time for that to happen.
 
J

JazzysMom

New member
I have double df508. I was dx at 7 after years of belly aches, diahrea etc. My lungs didnt really kick in until a few years after my dx. Today I would say they are about equal, but it took time for that to happen.
 
P

princessjdc

New member
I have two mutations that are the same G542X . I wasnt dx till I was 9 or 10 months old and I have had really good health up until 03 and 04 those two years I had to get picc lines, but eversince then I have taken control my cf and now Im doing great with pfts at 88 from 65.
 
P

princessjdc

New member
I have two mutations that are the same G542X . I wasnt dx till I was 9 or 10 months old and I have had really good health up until 03 and 04 those two years I had to get picc lines, but eversince then I have taken control my cf and now Im doing great with pfts at 88 from 65.
 
P

princessjdc

New member
I have two mutations that are the same G542X . I wasnt dx till I was 9 or 10 months old and I have had really good health up until 03 and 04 those two years I had to get picc lines, but eversince then I have taken control my cf and now Im doing great with pfts at 88 from 65.
 
S

sarabeth87

New member
my brother and I have double deltaF508. i was diagnosed at 18 months old because my brother was tested, so they decided to test me to. My health and my brother's has been pretty good. In the past 2 or 3 years it has started to decline for both of us. We haven't been in the hospital yet, but my FEV1 is at 70% as of November. Back in August it was at 90%, so I'm thinking that the 70% was just because I've been sick. But anyways, Travis (my brother) has always had more of digestive problems, whereas mine have mainly been lung problems. But now in the past few years, I've started having problems with digestion also and Travis now has alot more lung involvment. I think his FEV1 is in the 60s or 70s. He doesn't really take care of hisself like he should.
 
S

sarabeth87

New member
my brother and I have double deltaF508. i was diagnosed at 18 months old because my brother was tested, so they decided to test me to. My health and my brother's has been pretty good. In the past 2 or 3 years it has started to decline for both of us. We haven't been in the hospital yet, but my FEV1 is at 70% as of November. Back in August it was at 90%, so I'm thinking that the 70% was just because I've been sick. But anyways, Travis (my brother) has always had more of digestive problems, whereas mine have mainly been lung problems. But now in the past few years, I've started having problems with digestion also and Travis now has alot more lung involvment. I think his FEV1 is in the 60s or 70s. He doesn't really take care of hisself like he should.
 
S

sarabeth87

New member
my brother and I have double deltaF508. i was diagnosed at 18 months old because my brother was tested, so they decided to test me to. My health and my brother's has been pretty good. In the past 2 or 3 years it has started to decline for both of us. We haven't been in the hospital yet, but my FEV1 is at 70% as of November. Back in August it was at 90%, so I'm thinking that the 70% was just because I've been sick. But anyways, Travis (my brother) has always had more of digestive problems, whereas mine have mainly been lung problems. But now in the past few years, I've started having problems with digestion also and Travis now has alot more lung involvment. I think his FEV1 is in the 60s or 70s. He doesn't really take care of hisself like he should.
 
A

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
 
A

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
 
You must log in or register to reply here.
Top