DeltaF508 and R117H 7T

[wanderlust]

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.

 

[lemonstolemonade]

my3boys,

We had "conflicting" prenatal opinions to when we found out Abby would have CF. One genetic counselor said that our perinatal doctor had "overstated" her genetic diagnosis and another told us that we needed to "prepare for the worst and know that each case manifests itself differently." We took the advice of the latter because we didn't want to be blindsided.

Our Abby has the same gene combination as the originator, and she's had RSV already and her mucus is like pulling out string cheese (I'm sorry, TMI, I know). She doesn't have "runny noses" she has chunky noses, but it isn't formed. It is really gross. I can only attribute it to her CF. Our 2 year old didn't have congestion like Abby does.

She's still considered asymptomatic, but we do breathing treatments. We're not on enzymes because she is pancreatic sufficient and is already a little chunk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> She's in the 50th percentile for weight so we're doing good.

It is interesting to me how some genetic counselors who have no real day to day experience with CF will make blanket statements about how a case will be "mild" or that we shouldn't experience anything because of the mutations. I personally think that genetic counselors who don't have a full picture or extensive knowledge about the disease they are discussing with a client/patient need to step back and turn the situation over to a clinic before they make broad sweeping generalizations about how a disease (any disease, not just CF) will manifest itself in any person, especially an unborn child!!!

That's my two cents. Must go change the channel. It is time for Blue's Room here!

Emily

 

[lemonstolemonade]

my3boys,

We had "conflicting" prenatal opinions to when we found out Abby would have CF. One genetic counselor said that our perinatal doctor had "overstated" her genetic diagnosis and another told us that we needed to "prepare for the worst and know that each case manifests itself differently." We took the advice of the latter because we didn't want to be blindsided.

Our Abby has the same gene combination as the originator, and she's had RSV already and her mucus is like pulling out string cheese (I'm sorry, TMI, I know). She doesn't have "runny noses" she has chunky noses, but it isn't formed. It is really gross. I can only attribute it to her CF. Our 2 year old didn't have congestion like Abby does.

She's still considered asymptomatic, but we do breathing treatments. We're not on enzymes because she is pancreatic sufficient and is already a little chunk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> She's in the 50th percentile for weight so we're doing good.

It is interesting to me how some genetic counselors who have no real day to day experience with CF will make blanket statements about how a case will be "mild" or that we shouldn't experience anything because of the mutations. I personally think that genetic counselors who don't have a full picture or extensive knowledge about the disease they are discussing with a client/patient need to step back and turn the situation over to a clinic before they make broad sweeping generalizations about how a disease (any disease, not just CF) will manifest itself in any person, especially an unborn child!!!

That's my two cents. Must go change the channel. It is time for Blue's Room here!

Emily

 

[lemonstolemonade]

my3boys,

We had "conflicting" prenatal opinions to when we found out Abby would have CF. One genetic counselor said that our perinatal doctor had "overstated" her genetic diagnosis and another told us that we needed to "prepare for the worst and know that each case manifests itself differently." We took the advice of the latter because we didn't want to be blindsided.

Our Abby has the same gene combination as the originator, and she's had RSV already and her mucus is like pulling out string cheese (I'm sorry, TMI, I know). She doesn't have "runny noses" she has chunky noses, but it isn't formed. It is really gross. I can only attribute it to her CF. Our 2 year old didn't have congestion like Abby does.

She's still considered asymptomatic, but we do breathing treatments. We're not on enzymes because she is pancreatic sufficient and is already a little chunk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> She's in the 50th percentile for weight so we're doing good.

It is interesting to me how some genetic counselors who have no real day to day experience with CF will make blanket statements about how a case will be "mild" or that we shouldn't experience anything because of the mutations. I personally think that genetic counselors who don't have a full picture or extensive knowledge about the disease they are discussing with a client/patient need to step back and turn the situation over to a clinic before they make broad sweeping generalizations about how a disease (any disease, not just CF) will manifest itself in any person, especially an unborn child!!!

That's my two cents. Must go change the channel. It is time for Blue's Room here!

Emily

 

[dyza]

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[dyza]

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[janddburke]

My daughter has mutations W1282X and R117H.
she's been doing rather well with only a few 'scares' and only 1 hospitalization.
we've attributed this to the R117H mutation, but live in fear daily of the other one.
our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
overall, our experience has been managable, but we know better than to let our guard down

--Debbie

 

[janddburke]

My daughter has mutations W1282X and R117H.
she's been doing rather well with only a few 'scares' and only 1 hospitalization.
we've attributed this to the R117H mutation, but live in fear daily of the other one.
our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
overall, our experience has been managable, but we know better than to let our guard down

--Debbie

 

[janddburke]

My daughter has mutations W1282X and R117H.
she's been doing rather well with only a few 'scares' and only 1 hospitalization.
we've attributed this to the R117H mutation, but live in fear daily of the other one.
our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
overall, our experience has been managable, but we know better than to let our guard down

--Debbie

 

[janddburke]

My daughter has mutations W1282X and R117H.
she's been doing rather well with only a few 'scares' and only 1 hospitalization.
we've attributed this to the R117H mutation, but live in fear daily of the other one.
our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
overall, our experience has been managable, but we know better than to let our guard down

--Debbie

 

[janddburke]

My daughter has mutations W1282X and R117H.
she's been doing rather well with only a few 'scares' and only 1 hospitalization.
we've attributed this to the R117H mutation, but live in fear daily of the other one.
our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
overall, our experience has been managable, but we know better than to let our guard down

--Debbie

 

[Lsearch]

F508 delta and R117H-7T - I have these two mutations, and found out only when my son was about 3 when i was going to donate eggs and they rejected me. Told me I should have CF since I had two mutations. I thought they mixed the results with someone else, since I was completely surprised. That was 12 years ago and clearly to date I have no CF that I’m aware of. Have a history of mild asthma and deal with bronchitis once a year or so and colds to the chest fast and often require inhaler/nebulizer treatment (once every two years or so). Otherwise happy and healthy and nothing else I’m aware of. I never formally had any other testing of lung function CF etc since I haven’t had the need to. So clearly, this mix can be very mild. I did pass the R1117h mutation to my son which showed up when I ran his raw dna data through Prometheus.

 

[fallenevilangel0]

I have both genes and have major stomach, pancreas, intestinal, and respiratory issues! I know everyone says that it's a mild combination, but not everyone is the same. I'm currently on Hospice and things are not looking good for me.

 

[kchapman]

I'm so sorry you're going through a more classical presentation of CF, but it's good that you're putting the info out there, so that we people with this "mild" mutation set take better care of ourselves. As it's easier to prevent than to cure a progressive disease, anyone not feeling symptoms yet should still get strong, exercise and seriously consider taking Kalydeco (which I've been taking for almost 3 years now).
I started getting a chronic cough in my late 30's from MAI, but it wasn't horrible, and I had only had a couple cases of pancreatitis. Things slowly worsened over several years, but still not terribly bad. Just occasional night sweats and a small spot of sputum every day. When I started taking Kalydeco, my sweat test dropped to a completely normal score of 13, and I stopped coughing every day. I only have an occasional cough for a few days every 3-4 months, and I still test positive for MAI, but the levels have gone way down; it lives in the small spot of the lung it damaged, but it hasn't spread. I consider myself very lucky because without treatment, I would have gotten to where you are by the time I hit 50. But with a little bit of lung damage, I'm not totally out of the woods taking the Kalydeco, though; scarring is irreversible. If I had been taking it since childhood, then that would be a different story.
Hopefully, your story will encourage the people with these mutations who haven't gotten sick yet to take Kalydeco and exercise anyway. Prevention is so important.