DeltaF508 and R117H 7T

anonymous

New member
My husband and I found out that we are carriers of the two genes Delta F508 and R117H 7T when we were pregnant with our first child. We are considering having another child and want to know if there is anyone who knows what the outcome of this gene combination would be. It is very difficult to find info on the different gene combinations, so any info and insight would be helpful.
 

anonymous

New member
Basically it doesn't matter what gene you carry - the fact is that both of you carry a CF gene. Therefore, you have a 25% chance of having a child with CF, a 50% chance of having a child who is a CF carrier (just like both of you), and a 25% chance of having a child without a CF gene at all.

Regarding the specific genes, I don't think anyone can tell you what the combination of the two genes would do. I know there are some genes out there that cause "mild" cases of CF. However, it seems that no matter what, CF is a disease that affects each person differently. In fact there are people with the exact same gene combination that experience different levels of health and different severities of symptoms.

So to answer your question, I don't think your genes will give you the necessary clues as to what your child's future has in store. I think that question is best answered in your heart. Both of you need to decide if you want another child and whether or not you feel able to raise a child with medical needs. Only you know what is right for you, your family, and your future child.

I wish you the best of luck. From a personal standpoint, I have three children - the oldest one has CF. We decided to go ahead and have our third child (the second was already born when our son was dx). It was a hard decision. I was so scared what the future had in store. Fortunately, Allison was born healthy and CF free (although she is a carrier). I can't imagine life without her. All of my children are the light of my life and I am so thankful for the opportunity to watch them grow.

Good luck,
Katrina -- mother to Sean (6) w/cf, Carolyn (5) w/o cf, and Allison (3) w/o cf
 

anonymous

New member
ditto everything what Katrina said and an emphasis on the fact that even people with the same CF mutations has their CF affect them differently. There is still research going on to determine what factor of the CF genes contribute most to a persons severity or if there is some sort of modifying mutation/gene that determines that.
If you have the money, there is pre-genetic implantation testing that will guarantee you will not have a child with CF but it is very costly.

Good luck,

Julie
 

kchapman

New member
This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to have than the 5T poly-T variant. The only people who have been found to genetically have CF and have no symptoms have this *exact* gene combination. The symptoms of this gene combination can range from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. So, if you have the Delta F508 with R117H 7T, you are very lucky!

I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12, but I am otherwise very healthy. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. Luckily, my husband is not a carrier, which means that our baby will be negative for CF. Now, I can breathe a big sigh of relief.
 

kchapman

New member
This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to have than the 5T poly-T variant. The only people who have been found to genetically have CF and have no symptoms have this *exact* gene combination. The symptoms of this gene combination can range from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. So, if you have the Delta F508 with R117H 7T, you are very lucky!

I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12, but I am otherwise very healthy. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. Luckily, my husband is not a carrier, which means that our baby will be negative for CF. Now, I can breathe a big sigh of relief.
 

kchapman

New member
This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to have than the 5T poly-T variant. The only people who have been found to genetically have CF and have no symptoms have this *exact* gene combination. The symptoms of this gene combination can range from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. So, if you have the Delta F508 with R117H 7T, you are very lucky!

I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12, but I am otherwise very healthy. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. Luckily, my husband is not a carrier, which means that our baby will be negative for CF. Now, I can breathe a big sigh of relief.
 

Alyssa

New member
Another ditto here :)

My kids have this same gene combination. It is the R117H that keeps them mild (the mild gene will always win out over the more severe one) Yes, T-7 is better than T-5... it means the gene is functioning closer to "normal" which in turn helps the person with CF to function closer to normal.

Everyone else's advice about not knowing for sure is correct, even twins with the same mutations, environment & treatment will progress at different rates.

Having said that, I think this gene combination usually creates a more mild case (generally speaking) it also is well known for pancreatic sufficiency and lack of vas deferins (in boys)

Everyone I have ever met (all on this web site) that have this gene combination have a similar mild case (like my daughter) and I know of one other non-symptomatic person (like my son)

If you are interested, read the first entry on my blog page (link is in my signature line) for more details about my kids.
 

Alyssa

New member
Another ditto here :)

My kids have this same gene combination. It is the R117H that keeps them mild (the mild gene will always win out over the more severe one) Yes, T-7 is better than T-5... it means the gene is functioning closer to "normal" which in turn helps the person with CF to function closer to normal.

Everyone else's advice about not knowing for sure is correct, even twins with the same mutations, environment & treatment will progress at different rates.

Having said that, I think this gene combination usually creates a more mild case (generally speaking) it also is well known for pancreatic sufficiency and lack of vas deferins (in boys)

Everyone I have ever met (all on this web site) that have this gene combination have a similar mild case (like my daughter) and I know of one other non-symptomatic person (like my son)

If you are interested, read the first entry on my blog page (link is in my signature line) for more details about my kids.
 

Alyssa

New member
Another ditto here :)

My kids have this same gene combination. It is the R117H that keeps them mild (the mild gene will always win out over the more severe one) Yes, T-7 is better than T-5... it means the gene is functioning closer to "normal" which in turn helps the person with CF to function closer to normal.

Everyone else's advice about not knowing for sure is correct, even twins with the same mutations, environment & treatment will progress at different rates.

Having said that, I think this gene combination usually creates a more mild case (generally speaking) it also is well known for pancreatic sufficiency and lack of vas deferins (in boys)

Everyone I have ever met (all on this web site) that have this gene combination have a similar mild case (like my daughter) and I know of one other non-symptomatic person (like my son)

If you are interested, read the first entry on my blog page (link is in my signature line) for more details about my kids.
 

dyza

New member
yes our son has the same combination, and his doctor refers it to being 'mild'. He is pancreatic sufficient, although he takes vitamins. I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.
 

dyza

New member
yes our son has the same combination, and his doctor refers it to being 'mild'. He is pancreatic sufficient, although he takes vitamins. I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.
 

dyza

New member
yes our son has the same combination, and his doctor refers it to being 'mild'. He is pancreatic sufficient, although he takes vitamins. I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.
 

mtmonroe

New member
I'm not sure what my mutation is. But my husband is a carrier for CF(R117H) Our daughter does not have CF. We had 1 out of 2 chances of having a child with CF. We are NOT having any more kids. We were very blessed with a healthy little girl.
 

mtmonroe

New member
I'm not sure what my mutation is. But my husband is a carrier for CF(R117H) Our daughter does not have CF. We had 1 out of 2 chances of having a child with CF. We are NOT having any more kids. We were very blessed with a healthy little girl.
 

mtmonroe

New member
I'm not sure what my mutation is. But my husband is a carrier for CF(R117H) Our daughter does not have CF. We had 1 out of 2 chances of having a child with CF. We are NOT having any more kids. We were very blessed with a healthy little girl.
 

my3boys

New member
I also ditto what others have said.

Our three year old has the same gene combination and so far has not had any health issues. Our genetic counselor told us that he would have only a "mild" case at best. His doctors were not pleased that a genetic counselor gave us such a definitive diagnoses (I was 27 weeks pregnant at the time). None of his doctors like to use the word "mild" since they feel that you never truely know how an individual's disease will progress over time. Even with his "mild" combination his doctor feels very strongly that we need to work on keeping his lungs as healthy as possible. Different CF centers have delt with him differently, some have wanted to be really aggressive and others have been more laid back (we are an Army family and have moved several times already in his three years).

We have three boys, the older ones do not have CF nor are they carriers. Like so many others my husband I discovered we were carriers when I was pregnant. The test had not be available with my older boys. My husband I have discussed what we would have done had we found out that we were Cf carriers with our first child. It is a difficult choice. Best of luck.
 

my3boys

New member
I also ditto what others have said.

Our three year old has the same gene combination and so far has not had any health issues. Our genetic counselor told us that he would have only a "mild" case at best. His doctors were not pleased that a genetic counselor gave us such a definitive diagnoses (I was 27 weeks pregnant at the time). None of his doctors like to use the word "mild" since they feel that you never truely know how an individual's disease will progress over time. Even with his "mild" combination his doctor feels very strongly that we need to work on keeping his lungs as healthy as possible. Different CF centers have delt with him differently, some have wanted to be really aggressive and others have been more laid back (we are an Army family and have moved several times already in his three years).

We have three boys, the older ones do not have CF nor are they carriers. Like so many others my husband I discovered we were carriers when I was pregnant. The test had not be available with my older boys. My husband I have discussed what we would have done had we found out that we were Cf carriers with our first child. It is a difficult choice. Best of luck.
 

my3boys

New member
I also ditto what others have said.

Our three year old has the same gene combination and so far has not had any health issues. Our genetic counselor told us that he would have only a "mild" case at best. His doctors were not pleased that a genetic counselor gave us such a definitive diagnoses (I was 27 weeks pregnant at the time). None of his doctors like to use the word "mild" since they feel that you never truely know how an individual's disease will progress over time. Even with his "mild" combination his doctor feels very strongly that we need to work on keeping his lungs as healthy as possible. Different CF centers have delt with him differently, some have wanted to be really aggressive and others have been more laid back (we are an Army family and have moved several times already in his three years).

We have three boys, the older ones do not have CF nor are they carriers. Like so many others my husband I discovered we were carriers when I was pregnant. The test had not be available with my older boys. My husband I have discussed what we would have done had we found out that we were Cf carriers with our first child. It is a difficult choice. Best of luck.
 

wanderlust

New member
My husband has two mutations - the Delta F508 and also the 5T. He has no symptoms other than CBAVD - congenital bilateral absence of the vas deferens - which makes pregnancy possible only through IVF.

Right now, we're considering IVF and PGD. Either way, having a child when you know CF is a factor is a heavy decision. My thoughts are with you.
 

wanderlust

New member
My husband has two mutations - the Delta F508 and also the 5T. He has no symptoms other than CBAVD - congenital bilateral absence of the vas deferens - which makes pregnancy possible only through IVF.

Right now, we're considering IVF and PGD. Either way, having a child when you know CF is a factor is a heavy decision. My thoughts are with you.
 
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