Double Delta F508 Mutation

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1princess

New member
Hello all,
I have been reading these message boards for over a month now - ever since I found out that my husband and I both have the yucky Delta F508 mutation. I have a daughter who is 3 and I don't think she has CF - at least she has never shown any signs of it, although we are going to request a sweat test at her next checkup - just for peace of mind - ha, whatever that means!

Anyway - I have learned so much from all of you and I am so impressed by your positive look on life and have really appreciate hearing what it is like living with CF. My cousin is 23 and has CF, but up until now I really knew nothing about it. (She just had twin boys last month!).

We did not have the CF test done when I was prego with my daughter so I was shocked to find out I was a CF carrier and even more shocked to find out my husband was also - and then to find out we both have the same stupid mutation - supposedly the worst one - is this correct? We have our level 2 ultrasound next Tuesday and all I can do is pray that this baby will be born healthy, but of course I know our 25% chance of having a CF baby. We choose not to do an amnio because we knew there was nothing we would ever do to change things and decided to just do the bloodtest when the baby is born to find out. Of course there is a chance we will see the bowel blockage on the ultrasound next week, which will give us a pretty good clue of what to expect.

I guess to get to my point here - does anyone have the double Delta F508 mutation? I have read about a lot of people having one of them, but none that have a double mutation - or it is just that I haven't been on here long enough to see that conversation. Can you please tell me what life has been like for you and if it is really one of the worst cases of CF - that worries more more than anything. You all have made me stronger and definitely more knowledgeable about CF, but some days I just cry thinking about it. Thank you all - this message board has been like therapy for me - I just finally got brave enough to sign in today. Have a good weekend!
 
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JazzysMom

New member
This is the most common of the mutation. The jury is still out on how accurate gene mutations dictate the severity of the CF. I was diagnosed at 7 years old. I had bronchitis when I was 2, but that was it for respiratory until after my diagnoses. The reason for my being tested was the diahrea/cramps. For the most part I was healthy, active & fortunate. I never did my treatments on a regular basis although I did take my enzymes until my teens. I decided as a teen that I didnt need them anymore & stopped taking them. I didnt have any real problems & was able to maintain my weight. Most of my "real" problems occured after having my daughter. Although my pregnancy was fantatic, caring for a little one isnt easy. I stopped working fulltime (actually all together) when she was almost 2 becaue I got so sick. I didnt start doing my treatments faithfully until this year. I have done IV/hospital & IV/home with no problm & all oral meds, but treatments I resisted even after I got the vest. This year I didnt have a choice. It was time to sh-- or get off the pot because I didnt have any room to screw with in both my weight & lung function. I realize much of my problems is just from getting older, but I can tell the difference if I dont do my treatments regular or properly so I know it has made a difference in my overall health. I dont think you can go by the mutations. Circumstances, environment & many other factors dictate how a patient will do just as much as any link to a mutation. I hope this helps a little.
 
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anonymous

New member
My daughter has this mutuation. We didn't find out until April of this year, and since then she has gained 3 pounds. She turned 2 today (yay!)<img src="i/expressions/angel_ani.gif" border="0"> so we are thrilled with her progress so far. She does Pulmicort & Albuterol 2 times a day, in addition to enzymes, Prevacid for reflux, and vitamax vitamins. I hope & pray that she will continue to have such a good response to the meds. She cultured pseudomonas the first visit, but hasn't cultured it again.

Good luck at your ultrasound next week. Keep us updated. You & your family will be in our prayers!
 
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ReneeP

New member
Hi Deidre,

Both my daughters are Double Delta F508. One is 10 and the other is 6. My 10 year old had a very rough start in life and was very sick from about 10 months until she was finally diagnosed at 2 1/2. (there was no family history and neither of us knew anything about the genes). However, since her diagnosis she has been extremely healthy. She was hospitalized the last time on her 3 rd birthday to clean her out (only for 5 days). Since then she has not had a lung infection or anything else worth mentioning. She does treatments twice a day and takes enzymes but as long as she does that she is fine. She is not underweight either.

As for my 6 year old, she never had to suffer like that. She was diagnosed before birth (amnio) and has always been treated accordingly. She has some sinus problems and had surgery for that recently but has never had a lung infection. She is tiny for her age, but not to the point of needed a feeding tube or anything. (probably around the 10th percentile or so). Both girls haved cultured pseudomonias a couple of times but have never had any symptoms from it and have been able to go for the last 1 1/2 years without culturing it.

As far as the severity of the gene itself, I don't think anyone really knows. I was also told, when my daughter was diagnosed, that this was the gene "you don't want to have" (like you'd want any of them)... I was told it was the most severe. My daughters are extremely healthy. I do have a friend who has 2 daughters with CF (also both Double Delta F508) and they are much, much more severe than my daughters. Her youngest has lung function of about 20% and she is only 8. She has lived most of her life in the hospital and has never really been able to go to school. I know the family and I know those girls have been very well cared for so it's not lack of care. So in reality I don't think anyone really can predict how severe a case of CF will be based on the mutation. They may be able to predict whether you will be pancreatic sufficiant or not but that's about as far as it goes (in my opinion).

I wish you the best. Hopefully your baby will not have CF at all and you won't have to worry about it; however, if that's not the case, please know that there are many people who are Double Delta F508 and do very well. Best of luck to you.
 
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anonymous

New member
I honestly don't think the mutation has anything to do with it. Just my opinion.
My sister & I both have Double Delta F508 and our cases are like day & night and I've heard of this before with siblings. I don't know what kind of solid proof or studies have been done on mutations of CF regarding severity, so if none have been done or it can't be proved, then I wish doctors wouldn't act like it's such a big deal. Just my 2 cents worth<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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serendipity730

New member
Deidre,
I am the double delta F508, and I am doing pretty well. I didn't read the other responses, so someone else might have said this....delta F508 is considered a "severe" mutation, but that only seems to correlate with digestive health. My course of CF has been mild to moderate, as far as my lungs are concerned. However, I was born with meconeum ileus and have had 2 bowel obstructions over my lifetime. Anyway, try not to pay too much attention to that "severe mutation" stuff. CF is very different for every individual, being diligent with treatments and being proactive is very helpful with CF. I would definitely recommend a sweat test for your daughter, just for reassurance. I am sure that dr's and nurses and such have beat the number 25% into your head, but just keep in mind there is a great chance your child won't have CF. I am the youngest of 3, and the only one in my family (including extended) that has CF. So the odds are in your favor! Hang in there! You will be in my thoughts! Let us know how your leve II ultrasound turns out.
 
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rose4cale

New member
My son also has that mutation. He does quite well with no hospitalizations. He will be 3 in October. His problems have been mostly digestive with a little liver problem. His medications right now consist of enzymes, ADEK vitamin drops, zantac for reflux and a liver medication. Weight wise he is in the 55th percentile <img src="i/expressions/face-icon-small-happy.gif" border="0"> but he is quite short 5th percentile. He is very active and smart! I wouldn't worry about how they classify the mutation as every case is obviously different. As mentioned as well, I would have your daughter tested, at least so she knows if she is a carrier for the future. I said something about having my almost 6 yr old tested and nurse looked at me like I was crazy. You just never know!

Good luck at the ultra-sound!
 
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anonymous

New member
My older sister and younger brother have double Delta F508. She seems to be doing worse than him. Unfortunately he is in the hospital right now with pneumonia and she is at a ball game doing just fine. I'm in the middle with nothing...how did that happen????(I know %'s) Anyway, my sister's health seems to be declining since the last couple of years. She has a daughter that is 7(and staying with me right now.She and my girls are driving us nuts!!!! lol) My brother (no kids obviously) is really healthier than she is. Weird. He goes into the hospital about once every 2 years and she is in once or even twice a year with pneumonia. Double Delta F508 is all around. If I am not mistaken, there were posts about this in the adult forum a while ago.


Sister 32 CF/diabetes and Brother 25 w/cf
 
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anonymous

New member
I have posed questions about the DOUBLE DELTA F508 mutation, and I have come to realize, to my complete surprise, most patients do not know the difference between a Delta F508 mutation and a DOUBLE Delta F508 mutation. Yes the Delta F508 mutation is the most common mutation. However, having a double placement of this mutation is different. I do think that this DOUBLE mutation has the potential to be severe. I emphasize potential, such that to have it means that there exists the potential to endure many complications. This is dependant upon other catalyzing genes, and environment. Conversely, there are mutations where no patient has ever experienced severe complications, such that this considered mutation would be a mild mutation.

I wouldn't offer up percentages, but I sincerely believe those with the DOUBLE Delta F508 mutation should be more aware of this potential than other mutations. I have this mutation, and I experienced mal-nutrition up to the age of 9. My nutrition problem was not severe, though it was obvious, and I wasn't particularly susceptible to colds. I was like most other kids. However, when sever stress entered my life at the age of 9 with the death of my mother, I was sick all the time with pneumonia, going in the hospital 2-3 times a year. Just before I turned 11 my father died and I became worse. Within 4 years, I had gallstones, intestinal blockages, and my weight dropped such that by the time I was 14-15 years of age, I was about 61"-62" (inches) tall and weighed 89 lbs. I almost died. When my life became more stable with my attendance of a private boarding school, I my health began to stabilize, and I was in the hospital once a year. Everything began to improve. I think my symptoms and maladies were directly correlated to my levels of stability and stress. I also believe that my particular mutation left me wide open for such an experience. I believe that with a less severe mutation my experiences would have been less severe.

To conclude, I had many strong healthy years where I was hospitalized once a year, each for two weeks straight, and went on oral anti-biotics maybe 2-3 times a year. When I hit 30 years, all my problems returned -my weight loss, my poor lung function (currently at 48% FEV1). I think there is always hope, but with this mutation I think cautious hope is the most responsible tack.

Best of luck.
One more thing, I was born in 1972 when life expectancy wasn't very good. These days, there is enough technology and advancement such that had I been born today, I sincerely believe that I could consider for myself a normal life expectancy, barring any dramatic events or dysfunction in my life.
 
1

1princess

New member
Thank you all so much for your responses. I will post again tomorrow after my ultrasound and keep reading all the posts on the board - I want to know as much as I can so I can be prepared if my baby is born with CF.
 
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wuffles

New member
I'm double delta F508, 21 years old, working full-time, living with my boyfriend, play volleyball and love to rollerblade, graduated university last year <img src="i/expressions/face-icon-small-smile.gif" border="0">

I take enzymes with my food, lots of tablets each morning, a few puffers and occasionally take antibiotics, and I cough an awful lot more than most people. Of course my life isn't what everyone else would call "normal" but it's just fine.
 
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1princess

New member
Thank you all for your responses - I am find them very encouraging. I am happy to announce that our ultrasound went very well this morning and they didn't see any bowel problems - everything looked great - we are having a baby girl! We are going back for another ultrasound in 4 weeks for them to look at her heart because she was turned and the tech. couldn't see it - I am not really worried about that - just relieved for the moment that the bowel looks good and the baby looks healthy. We will have her tested as soon as she is born, but for now I am hoping to enjoy the rest of my pregnancy and continue to learn all I can about CF to be prepared!
 
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cfmomma

New member
my son is double delta as well. He was diagnosed at 18 months after two mild bouts of pneumonia and failure to thrive. He is doing great and only spent one night in the hospital after polyp/tonsil/adenoid surgery. His lungs are nice and clear and he has never cultured anything yet. His main problem is digestive; he gets stomach aches and poops a lot, but not too bad. He just started kindergarten and loves it. I hope your pregnancy goes well and don't get too stressed out!
 
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anonymous

New member
My daughter is double delta f508 as well. So far she has pretty mild symptoms. I also have been told that knowing your mutation cannot predict future symptoms or severity. Good luck with your pregnancy!

Lynsey- mom to Avery 2yrs. w/CF and Rhett 7mos. no CF
 
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1princess

New member
I was shocked because like I said I didn't know anything about CF - didn't know the little genetics chart or anything - my cousin and I are not really close so I had no idea what she went through or goes through on a daily basis. When my sister was prego last year and found out she was a carrier I thought it was odd that I wasn't (however I didn't even know I was never tested with my daughter), but until I went to the genetics counselor and she explained everything to us - I was clueless. Had I known more about CF - I would have known I had a 25% of being a carrier because my cousin had it - it all makes sense now. Now all I can do is educate the rest of my family. It didn't run at all in my husband's family - at least not from what I have been told.

The genetics counselor made me think that because we had the most common mutation, we would have the most severe case of CF if our kids were affected - doesn't necessarily sound that way, which is good to know. Thanks!
 
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anonymous

New member
Are you familiar with the Bell Curve? Having an uncommon mutation either means things are much much worse than the average, or much much better than the average mutation. To have the most common mutation means that all the meds, all the therapies, are calibrated for the average CFer, that means ... the most common mutation, that's you.

You should consider your self lucky to have a common mutaiton, and that you are doing well with it.

Cheers!
 
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