Delta 508 Gene

[anonymous]

Hi Was just wondering if the gene mutations make a difference to how severe you have CF. Our son has the double Delta 508 Gene and i was wondering if it makes one with a different gene any different with CF. Ben was born with a blocked bowel and i was wondering if he will have more bowel issues than chest ones. Sorry if i sound daft but just thought i would ask
thanks

Donna mum to Benjamin 6 1/2 months with Cf

 

[lovemygirl]

We were told that they can tell the severity of the digestive system by the mutation but are still researching the severity of the lungs. If your son has double deltaF508 then he should have digestive issues.
My latest understanding is that they are looking at modifier genes to see if this will give a more clear understanding of the severity in the lungs.

 

[anonymous]

DS was born with a bowel obstruction and has double delta f508. Right now he seems to have more digestive issues (requires enzymes) and sinus problems. But he's only 2 3/4 years old

Liza

 

[thelizardqueen]

I have double delta f508 - and I have pretty bad digestive problems, but very mild lung damage. What gene you have really has no basis on how your lungs do so I've been told, and what I've researched. I continually struggle with my weight, I've had to take enzymes all my life, and I developed CFRD when I was 14, but my lungs are very mildly affected. I've never had bowel obstructions, nor sinus problems. Like I said - the only digestive problems I have is continually dealing with enzyme problems, and my CF related diabetes. Let me know if there's any other questions you have.

 

[3timesthefun]

I too think these modifier genes have a great deal with how each person is affected. My one son has Delta 508 and RX553, he had meconium illeus at birth and has been hospitalized with bowel obstructions. He also has liver involvement and sinus problems, but his lungs have been pretty good, only hospitalized once for pneumonia. My other two kids have Delta 508 and R117c, they don't seem to have any pancreatic issues, and mild lung involvement. It would be nice to be able to predict what to expect, maybe someday.

 

[ashton2005]

my son has a double df508 also and we have cultured staph in his lungs and he was born with meuconium ilius and is currently on enzymes his liver functions are also mildly elevated so i think it depends on the person. in my opinion.

christi
ashton 5 1/2 mo with cf
abbi 5 yo without

 

[ashton2005]

my son has a double df508 also and we have cultured staph in his lungs and he was born with meuconium ilius and is currently on enzymes his liver functions are also mildly elevated so i think it depends on the person. in my opinion.

christi
ashton 5 1/2 mo with cf
abbi 5 yo without

 

[Salli]

Hi there,

Archie is double delta 508 and at the moment he only has digestive issues, on enzymes and Zantac. No lung problems as yet but we are only 7 months - hopefully it remains that way. He was not born with any bowel obstructions.

 

[mujer]

Hi Donna,
I have a daughter wcf, she 21 yrs old.
She has the same gene and had the same problem at birth. Since then all thru her early years she never had any probs with her lungs. All the probs were with her stomach.
Now she is older she has more lung infections 2 or 3 a year, but only mild onesbut a lot of that I think is because she doesn't do any physio unless she is feeling unwell.

 

[anonymous]

Avery is double DeltaF508 as well and she to this point has only had digestive issues. She was fine at birth and had bowel movements, but has had one case of prolapse. She has been mild on the respiratory side to this point. Always curious to find out what others with the double gene are going through.

Chuck
Father to Avery 2.5 with CF, and Rhett 1yrs. old carrier

 

[dyza]

my son has delta508 and R117 and has no pancreatic problems and his lungs appear very clear, he is only 10 months, he has cultured a few things, but probably most kids his age would have done anyway, we do his physio twice daily, if only to get him used to it.
Craig

 

[anonymous]

I have no idea what gene my son has. Should I ask his doctor? is that something that they always test - or only if you ask them to? Next time I go I think I will see if they know. He hasn't had much lung problems yet. Only digestive and polyps.

Mother of 9yr boy w cf

 

[thelizardqueen]

I was tested simply so that another family member could find out what genes I had so that they could start family planning to see if they carried the gene. Apparently my family member's doctor wanted to know what gene I was. That's how we found out.

 

[jessica1114]

Hello everyone I am new to this site. I have been reading the post for a while and decided to join. My name is Jessica and I have a daughther that has cf. She has AF508.. Today is her first birthday... We had a party for her on Saturday. She loved diving into that cake..

 

[texascfdad]

my son has double deltaf508. its them most common mutation for CF. he was born with a meconian ilius. his liver enzymes were elevated, but after a year he was taken off his actegal for his liver. he only takes vitamax and zantac and enzymes. hes had only minor respritory infections.
the mutation does not determine the severity of the mutation. doctors are looking a modifier genes to determine the severity. my sons clinic told us about a family that has three kids, so they all have the double deltaf508, but they all have different ranges of symptoms.

 

[Emily65Roses]

It one of <b>many</b> factors to contribute to how anyone's CF will be. It does make a difference, but so do many other things.

 

[anonymous]

my son , he's 8 , has double delta 8 !!!! we consider ourselves lucky that he was only diagnosed 30 months ago, we feel we had over 6 yrs to enjoy him before are world came crashing down around are ears. (sorry for the dramatics ) but that is how it felt when he was diagnosed. it still feels like that sometimes but now i live in a state of (healthy) denial. sorry i'm on a downer today<img src="i/expressions/brokenheart.gif" border="0">

 

[julie]

My husband is a double Delta F508, diagnosed in 1982 when he was 18 months old. His problems have always been more of malabsorption and of course weight gain than lungs, but in recent years he has has a progression of lung infections. Nothing landing him overnight in the hospital in the last 7 years (in the ER a few times) but enough that he is very dilligent about his vest and his medications now-he went years without anything-even enzymes.

He did not have a blockage at birth or any other complications, his mother noticed he was always a sick baby (cold after cold after cold) but the weight gain problem didn't show itself until after she stopped breastfeeding him.

As others have said though, there are currently some studies going on to find modifier genes or see if something exists that makes the CF different for a particular reason.

The bottom line is that nobodys severity of CF can be determined by their mutation. Siblings in the same family with CF (and the same mutations) have different problems along the way as they grow up, which is what lead researchers to believe there must be some sort of modified. What is know about DF508 though is that there is pancreatic involvement with that mutation.

 

[anonymous]

Craig

My daughter has deltaf508 and R117h, she is 10 years old and was diagnosed at birth due to meconium illeus. She has mild lung problems with her PFT's still over 100%, CT showed only one airway that could be early signs of bronchieastes. She has been hospitalized 4 times (including birth) 3 times with pneumonia, at age 2, age 6 and age 9. She cultures psuedomonas and MRSA. She is very active and stays on top of her treatments. Any time she has been sick she was treated very aggressivly and bounced back just fine. She does have mild pancreatic problems and i think she is now starting to have sinus problems. Kait has done very well and her doc's are amazed at how well she is doing.

Kaitsmom<img src="i/expressions/rose.gif" border="0">