DF508 and 711+1G>T

Nikole

New member
Hi,
I have a 5 year old daughter who was born with a severe bowel obstruction. She had malrotation, volvulus, and apple peel jejunal atresia. It was an unexpected nightmare. We were told that she wouldn't make it and if she did she would be short bowel and on feeding tubes, etc. She pulled through and went home six weeks later. She was tested for CF twice while we were in the NICU in Oklahoma, both times coming back negative(even though her mutations were on the test panel). Anyway--When she left, we were told that she would probably have loose, foul stools, and may have some trouble absorbing nutrients. She had all of this for the first 2-1/2 years and then at that age, I noticed protruding rectum during bowel movements and very greasy stools--also had only gained about a pound in a year. We moved to Kansas and she was tested for CF and celiac disease. I didn't think she had CF because was tested twice at birth. CF was confirmed genetically and through a sweat test. Her mutations are DF508 and 711+1G>T. She never had any colds, cough, runny nose, nothing as an infant, all the way through the first four years. She started having a little cough around age 4, but that's it. She has trouble digesting food, takes Zenpep 8 w/meals and 2-3 with snacks and still has about 4-6 loose, foul stools a day. I have to wonder if some of the malabsorption is from the lack of intestine (she lost a ton and alot was gone when they did the surgery to begin with) or if it's from the CF. The point is, it doesn't matter either way and now I'm certain that the CF caused the obstruction. But, I also have to wonder how she has been so fortunate with her lungs so far being 5 years old and no lung infections. I do know that the 711+1G>T is a class 5 mutation. Is that what may help keep her from being as sick? Or-should I expect her lung infections to be beginning. We do all her treatments and treat her like you would treat any other child/person with CF. She is starting school in the fall and I am very worried that these infections may start. Anyone else with no or little CF symptoms, even though they carry a Df508 mutation?
 

Nikole

New member
Hi,
I have a 5 year old daughter who was born with a severe bowel obstruction. She had malrotation, volvulus, and apple peel jejunal atresia. It was an unexpected nightmare. We were told that she wouldn't make it and if she did she would be short bowel and on feeding tubes, etc. She pulled through and went home six weeks later. She was tested for CF twice while we were in the NICU in Oklahoma, both times coming back negative(even though her mutations were on the test panel). Anyway--When she left, we were told that she would probably have loose, foul stools, and may have some trouble absorbing nutrients. She had all of this for the first 2-1/2 years and then at that age, I noticed protruding rectum during bowel movements and very greasy stools--also had only gained about a pound in a year. We moved to Kansas and she was tested for CF and celiac disease. I didn't think she had CF because was tested twice at birth. CF was confirmed genetically and through a sweat test. Her mutations are DF508 and 711+1G>T. She never had any colds, cough, runny nose, nothing as an infant, all the way through the first four years. She started having a little cough around age 4, but that's it. She has trouble digesting food, takes Zenpep 8 w/meals and 2-3 with snacks and still has about 4-6 loose, foul stools a day. I have to wonder if some of the malabsorption is from the lack of intestine (she lost a ton and alot was gone when they did the surgery to begin with) or if it's from the CF. The point is, it doesn't matter either way and now I'm certain that the CF caused the obstruction. But, I also have to wonder how she has been so fortunate with her lungs so far being 5 years old and no lung infections. I do know that the 711+1G>T is a class 5 mutation. Is that what may help keep her from being as sick? Or-should I expect her lung infections to be beginning. We do all her treatments and treat her like you would treat any other child/person with CF. She is starting school in the fall and I am very worried that these infections may start. Anyone else with no or little CF symptoms, even though they carry a Df508 mutation?
 

Printer

Active member
While I had minor symptoms since birth, I didn't show severe symytoms until high school.

There is an older thread here, CFERS OVER 50, you will find it in FORUM/ADULT. It would be worth your time to read through it.

Bill
 

Printer

Active member
While I had minor symptoms since birth, I didn't show severe symytoms until high school.

There is an older thread here, CFERS OVER 50, you will find it in FORUM/ADULT. It would be worth your time to read through it.

Bill
 

Printer

Active member
Nikole:

I couldn't find it either. In short there are alot of us over 50 here and in my adult clinic there are 3 over 70. Is she being seen, at present, at an APPROVED CF CLINIC by an CF SPECIALIST. If not, then she should be. I would think that a slight increase in her enzymes may help with the stool issue. Check with her Doctor.

My lung function is about 75%.

Bill
 

Printer

Active member
Nikole:

I couldn't find it either. In short there are alot of us over 50 here and in my adult clinic there are 3 over 70. Is she being seen, at present, at an APPROVED CF CLINIC by an CF SPECIALIST. If not, then she should be. I would think that a slight increase in her enzymes may help with the stool issue. Check with her Doctor.

My lung function is about 75%.

Bill
 

Nikole

New member
Yes, she is seen a CF cinic. She does vest treatments twice daily and does Pulmozyme and HyperSal 7%, along with taking Zenpep 5,000 units, 8 with meals and 2-3 with snacks. It seems like every few months, I have to up the enzymes or she starts getting a lot of tummyaches and greasy floaty stools. It is amazing that you are 72. Gives me hope!! I think my mom has CF and wish she would get tested. She has tons of symptoms of it and since her granddaughter has it, it just seems ironic. Also she had a very very distant cousin that died from it in the 50's I think. Her symptoms are cough since age of 2, off and on bronchitis many times and pneumonia, chronic cough now, runny nose, tummyaches, protruding rectum as a child, pleurisy over the years, unexplained weight loss (like 30 lbs all of a sudden) every 10 years or so with stomach issues with it, frequent stools, salty skin, etc. I finally talked her in to getting a sweat test and one arm was borderline and the other was 2 points above positive. I just want her to get it for her own well-being and also because she seems to be doing pretty well for being 54, never severely sick, and never being hospitalized. What encouraged you to find out at the age of 47? I wish she wouldn't be so scared to get the gene test. Plus, I feel like she should because if she has contageous lung infections, it would be nice to in order to keep her and Charli apart if she is sick. Also, she's done fairly well all her life and it would give me a little encouragement for Charli.
 

Nikole

New member
Yes, she is seen a CF cinic. She does vest treatments twice daily and does Pulmozyme and HyperSal 7%, along with taking Zenpep 5,000 units, 8 with meals and 2-3 with snacks. It seems like every few months, I have to up the enzymes or she starts getting a lot of tummyaches and greasy floaty stools. It is amazing that you are 72. Gives me hope!! I think my mom has CF and wish she would get tested. She has tons of symptoms of it and since her granddaughter has it, it just seems ironic. Also she had a very very distant cousin that died from it in the 50's I think. Her symptoms are cough since age of 2, off and on bronchitis many times and pneumonia, chronic cough now, runny nose, tummyaches, protruding rectum as a child, pleurisy over the years, unexplained weight loss (like 30 lbs all of a sudden) every 10 years or so with stomach issues with it, frequent stools, salty skin, etc. I finally talked her in to getting a sweat test and one arm was borderline and the other was 2 points above positive. I just want her to get it for her own well-being and also because she seems to be doing pretty well for being 54, never severely sick, and never being hospitalized. What encouraged you to find out at the age of 47? I wish she wouldn't be so scared to get the gene test. Plus, I feel like she should because if she has contageous lung infections, it would be nice to in order to keep her and Charli apart if she is sick. Also, she's done fairly well all her life and it would give me a little encouragement for Charli.
 
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