Anyone have the DF508 and G551D Mutations?

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anonymous

New member
I was just curious if anyone had a combination of these two mutations. My husband is DF508 and I am G551D. I'm three months pregnant and worried to death. I've really been reading too much, but I read that the DF508 is associated with more severe pancreas problems. Is this true? Is there any chance if my baby does have CF that it could be a mild case even though she would have DF508? I'm just worried. I am having an amnio done March 22nd but the wait is killing me. My husband has a son with CF from a previous marriage and our daughter is a carrier of the DF508 and she did not inherit my G551D. The DF508 seems to be a very dominate gene which makes me feel like my baby only has a 50/50 chance. I'm so nervous I can't stand it.

Jen
 
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Emily65Roses

New member
I don't know much of anything about which mutations do which damage... However, no CF gene is dominant. They're all recessive. So your baby has only a 1 in 4 chance of having CF. If you're a carrier and your husband is a carrier, the child has 25% chance of having CF, 25% chance of not even carrying the gene, and 50% of just carrying the gene.
 
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LindseyRose

Member
My initial reaction to your post was this: I'd rather have more severe pancreas problems than the lung problems. Anyone feel free to correct me, but from what I understand it's the lung problems that cause death, not pancreas problems.
 
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anonymous

New member
Well, I kind of assumed that if it caused severe digestive problems that it would also cause an equal amount of lung problems. I wasn't aware you could have severe digestive problems with little effect on the lungs. I'm learning more everyday.
Jen
 
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Emily65Roses

New member
You can have severe lung with little to no digestive. You can have severe digestive with little to no lung. You can have mild both. And you can have severe both. It goes any way it likes.
 
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anonymous

New member
I have those 2 mutations. Its funny theres a one in 4 chance of having cf and i have three other siblings, so i am the one in 4 so to speak. I don't suffer from particulary bad pancreatic problems. I need to take creon but thats it.
 
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irishdavid

New member
I have cf and I have a brother with cf. Even though we both have the same mutations (obviously) there is a big difference in how cf has effected us. Im older but much smaller and my lungs are worse. We both have digestive problems and he has sinus problems that I dont have. As far as I can remember DF508 is one of the mutations that we have.
This just shows that you can tell very little about someones expected health from the mutations they have so I would try not to focus too much on this.
Also as Emily said it doesnt matter what mutations are involved, your baby still has the same 25% chance of having cf.

I hope everything works out for you guys and your baby doesnt have cf.
David
 
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ClashPunk82

New member
I believe that the DF508 mutation is one of the most common. I have one of the rare ones. I have double copies of E60X. My brother has the same since both my parents have those exact copies! My mom allways said she married my dad for a reason! <img src="i/expressions/face-icon-small-happy.gif" border="0">

Nicole 22 CF
 
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anonymous

New member
This is Shamrock
Just another point, slightly irrelevant, but you asked about how the genes effect the severity of the disease.
Theres a genetic disease called neurofibramitosis(spelling?) and it results in tumour like, visible deformaties. Anyway, I was watching this programme the other day and there was a set of IDENTICAL twins (ie exact same dna) and one was effected really severely with it, the other not at all. So my point is, sometimes the genes dont indicate the severity of a disease.
 
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luke

Guest
Jen

for a better understanding look at my heterozygous posting.


luke
 
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anonymous

New member
Jen,

It's really insane how many variables there are with CF and severity of illness.

There's a big relationship between compliance with medication and lifestyle as well, Jen. There's just no denying that those who do their meds like they should, do better. It's not always the case (some really sick people always do meds), but most people who do meds religiously fare better.

But a lot has to do with other genes you have (non-CF related). They are called modifier genes. No one really understands how it all works, but doctors know that this is the case (hence some brothers and sisters being healthier than each other).

A good thing, Jen, though about DeltaF508 is that researchers are trying to develop mutation-related therapies. For example, a med that would work for just Delta F508-ers. Since Delta F508 is the most common, they're focusing on this one first. Everything's just in the beginning states, but it's worth being informed on.

I'm Delta F508 and Delta F507A.

But Jen, having CF isn't a death sentence like it used to be. There's a lot of hope out there for new meds and maybe even a cure. God will make your baby the way He wishes. We live in the best country on earth for medicine.... so look on the bright side because there's a lot of hope out there. And only a 25% chance your little one will even have CF. <img src="i/expressions/face-icon-small-smile.gif" border="0">

I can already tell you're a good mom because you're so caring about your child's health!

<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
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Beowulf

New member
Is DF508 the same as Delta F508 or Double Delta F508?

If you mean the double mutation, I definitely have the Double Delta F508 mutation. This is not a common mutation. The Delta F508 is common. I do have pancreatic issues, though they manifest in an indirect way. I take digestive enzymes, and I have always had these intense abdominal cramps (around the pancreas and sometimes the liver) every so often and the pain brings me to my knees -I even break out in a sweat it’s so rough. It doesn't last too long, usually around 20-30 seconds, though once it lasted 25 minutes straight and I thought it was the end of me. I had my gall bladder removed when I was 14, which is related. And I have had pulmonary problems as well. Though my first 8-9 years were not too bad pulmonarily speaking, I did have a distended stomach. I looked like one of those little Ethiopian kids with the pop-bellies, which was fun around the holidays with Christmas and fat Santa and all.

Regardless of the mutation, don't forget environment plays a big role in how the disease manifests. As well, one gene can over-ride another. That is, if you have a tough mutation, it is possible one can have some other gene that can reduce the mutated gene's effects.

Stay hopeful!
 
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anonymous

New member
Hiya
My daughter has F508 & G551D. She is 20 and doing okl. She has never had many pancreatic prob's and her lungs could be better or much worse. I agree with the others, one can't focus on this. I know of a family who have 2 sons. One has had a lung transplant at 13, the other has never been hospitalised. I also know a family who had 3 sons in 5 years, all with CF. They are all affected differently. Good Luck, try not to worry. These kids are all amazing and individual and we can only do our utmost without going over the top to keep them as well as poss and give them the same opportunities as others their age. Thinking of You and wishing you well.
 
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serendipity730

New member
Jen,
Regardless of which mutations you and your husband carry, there is still only a 25% chance you will have a child with CF. The DF508 gene and the G551D gene are both associated with what is called "classical CF" This means that your baby, is it had CF, would be pancreatic insufficient. Mostly, what that boils down to is that your baby would have to take pancreatic enzymes in a pill form before they eat. Pancreatic insufficiency also can cause bowel obstructions in some cases, which require either surgical or non-surgical interventions. Pancreatic insufficiency can lead to difficulty growing and gaining weight, but not all people have these problems. As far as lung disease is concerned, there is only a loose association between mutations and severity of disease. It varies greatly. I have two DF508 mutations and am doing very well. DF508 accounts for about 70% of CF mutations, which is why it is so prevalent. Hang in there until your amnio! If you have any more questions, feel free to e mail me. I am a CF patient, but I am also in the process of getting my masters in genetic counseling, so I know a lot about this kinda stuff. My e mail is mar_md@yahoo.com
Best of Luck!
 
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anonymous

New member
DeltaF508 is the most common form. I dont know where you could have heard that it is rare. There are alot of different effects of this mutation, it is not always tough! Everyone is different no matter what mutation you have!
 
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Beowulf

New member
Do you guys read any of these postings before you comment?

DOUBLE DELTA F508 IS A DIFFERENT MUTATION THAN THE DELTA F508. THE DOUBLE MUTATION IS RARE, AND THE SINGLE MUTATION IS THE COMMON MUTATION (PRACTICALLY THE GENETIC DEFINITION OF CF).

Literacy is paramount to any commentary. Thank you.
 
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anonymous

New member
My sister and brother have double Delta F508. My brother seems to be doing better than my sister and if I am not mistaken, he is really not taking care of himself as well as she does. She has ALWAYS taken care of herself making sure she has her meds etc... and my brother...well...pretty much parties it up all the time and the last I knew...he doesn't take any meds(his choice). How is it that he is doing better than she is???????????
 
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