DF508 question

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 aninfant, 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 oldand 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?

Edited by I<em>ncomudrox</em>
 

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 aninfant, 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 oldand 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?

Edited by I<em>ncomudrox</em>
 

Anomie

New member
Kids with CF don't usually have runny noses since their mucus is so thick and sticky. If she has a cough you should start her on chest physiotherapy like a vest or acapella. Its not uncommon for the digestive issues to start first with the lung issues to follow. However having one class 5 mutation is a good sign that she'll probably have a milder form of the disease even though she's very pancreatic insufficient.
 

Anomie

New member
Kids with CF don't usually have runny noses since their mucus is so thick and sticky. If she has a cough you should start her on chest physiotherapy like a vest or acapella. Its not uncommon for the digestive issues to start first with the lung issues to follow. However having one class 5 mutation is a good sign that she'll probably have a milder form of the disease even though she's very pancreatic insufficient.
 

Nikole

New member
She does sometimes get clear, runny noses, but never usually stopped up and never discolored. Slight cough is the only symptom and it's usually exacerbated by allergies or sometimes being around her sisters. It's odd because her sisters get more colds than she does. I don't want to take how healthy her lungs are for granted but it just seems she's doing so well with them? She does chest physiotherapy twice a day with the vest. She is also on Pulmozyme once daily, HyperSal 7% once daily, and Ventolin inhaler 3 puffs twice daily.
 

Nikole

New member
She does sometimes get clear, runny noses, but never usually stopped up and never discolored. Slight cough is the only symptom and it's usually exacerbated by allergies or sometimes being around her sisters. It's odd because her sisters get more colds than she does. I don't want to take how healthy her lungs are for granted but it just seems she's doing so well with them? She does chest physiotherapy twice a day with the vest. She is also on Pulmozyme once daily, HyperSal 7% once daily, and Ventolin inhaler 3 puffs twice daily.
 

Nikole

New member
I'm not sure what you mean because it's showing that it's all here when I look back at the posts; any suggestions on how to fix it so it can be read?
 

Nikole

New member
I'm not sure what you mean because it's showing that it's all here when I look back at the posts; any suggestions on how to fix it so it can be read?
 

Havoc

New member
<div class="FTQUOTE"><begin quote><em>Originally posted by: <strong>Anomie</strong></em> Kids with CF don't usually have runny noses since their mucus is so thick and sticky. If she has a cough you should start her on chest physiotherapy like a vest or acapella. Its not uncommon for the digestive issues to start first with the lung issues to follow. However having one class 5 mutation is a good sign that she'll probably have a milder form of the disease even though she's very pancreatic insufficient.</end quote>

It's perfectly possible to have a runny nose with CF, I get them every allergy season. Furthermore, there isn't much evidence (if any) that genotype and phenotype correlate. I have a class I and class III and have a very mild phenotypic expression.
 

Havoc

New member
<div class="FTQUOTE"><begin quote><em>Originally posted by: <strong>Anomie</strong></em> Kids with CF don't usually have runny noses since their mucus is so thick and sticky. If she has a cough you should start her on chest physiotherapy like a vest or acapella. Its not uncommon for the digestive issues to start first with the lung issues to follow. However having one class 5 mutation is a good sign that she'll probably have a milder form of the disease even though she's very pancreatic insufficient.</end quote>

It's perfectly possible to have a runny nose with CF, I get them every allergy season. Furthermore, there isn't much evidence (if any) that genotype and phenotype correlate. I have a class I and class III and have a very mild phenotypic expression.
 

Anomie

New member
I meant kids that aren't being treated with mucus thinning agents which I'm betting you are. The OP made it sound like her child wasn't being treated for CF lung disease in her original post. As far as the genotype/phenotype correlation I didn't say definitively that he would have a milder form of the disease. I just said that it was a good sign that his would be milder but there's no guarantee. It just seems that modifier genes influence the outcome of individuals so much more than originally thought.
 

Anomie

New member
I meant kids that aren't being treated with mucus thinning agents which I'm betting you are. The OP made it sound like her child wasn't being treated for CF lung disease in her original post. As far as the genotype/phenotype correlation I didn't say definitively that he would have a milder form of the disease. I just said that it was a good sign that his would be milder but there's no guarantee. It just seems that modifier genes influence the outcome of individuals so much more than originally thought.
 

Havoc

New member
I don't take any mucolytic agents. As for the genotype/phenotype bit, i would not be speculating on that kind of thing especially with someone who is not very familiar with the disease pathology. We really don't know much about epigenetics, and to say that a class V might produce a milder phenotype is like saying that playing certain numbers might increase your chance at winning the lottery.
 

Havoc

New member
I don't take any mucolytic agents. As for the genotype/phenotype bit, i would not be speculating on that kind of thing especially with someone who is not very familiar with the disease pathology. We really don't know much about epigenetics, and to say that a class V might produce a milder phenotype is like saying that playing certain numbers might increase your chance at winning the lottery.
 

Anomie

New member
You know any double deltas that were diagnosed in their 50's because I sure don't? Modifier genes do change specific outcomes for people with the same genotype but I do believe that some aspect of severity is related to the genotype with I and II homozygotes being and severe and people with class III thru V on one allele having the chance of milder gene expression.
 

Anomie

New member
You know any double deltas that were diagnosed in their 50's because I sure don't? Modifier genes do change specific outcomes for people with the same genotype but I do believe that some aspect of severity is related to the genotype with I and II homozygotes being and severe and people with class III thru V on one allele having the chance of milder gene expression.
 
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