MUST be satisfied

J

jennylivingston

Guest
When I was pregnant, my husband Adam had the 32 gene mutation panel done and was NOT found to be a carrier. At the time, we were satisfied with that. However, as time goes on and I learn more about this disease and just how many mutations exist (thanks, in large part, to this website!) I'm not really satisfied with that anymore.

I've been interested in getting more testing done, either on her or possibly having gene sequencing done on my husband. But since she shows no symptoms, our family doctor and everyone at my CF center have completely dismissed my concerns. Usually saying something like "She's growing fine, so you don't have to worry about it." I'm beyond frustrated with this. I can't seem to make them realize that the only way I'll be satisfied is if I KNOW FOR CERTAIN that Adam is not a carrier...of ANY known mutation, not just 32 of them.

If the doctors are unwilling to help, how can I pursue futher (affordable) testing on my own?
 
J

jennylivingston

Guest
When I was pregnant, my husband Adam had the 32 gene mutation panel done and was NOT found to be a carrier. At the time, we were satisfied with that. However, as time goes on and I learn more about this disease and just how many mutations exist (thanks, in large part, to this website!) I'm not really satisfied with that anymore.

I've been interested in getting more testing done, either on her or possibly having gene sequencing done on my husband. But since she shows no symptoms, our family doctor and everyone at my CF center have completely dismissed my concerns. Usually saying something like "She's growing fine, so you don't have to worry about it." I'm beyond frustrated with this. I can't seem to make them realize that the only way I'll be satisfied is if I KNOW FOR CERTAIN that Adam is not a carrier...of ANY known mutation, not just 32 of them.

If the doctors are unwilling to help, how can I pursue futher (affordable) testing on my own?
 
J

jennylivingston

Guest
When I was pregnant, my husband Adam had the 32 gene mutation panel done and was NOT found to be a carrier. At the time, we were satisfied with that. However, as time goes on and I learn more about this disease and just how many mutations exist (thanks, in large part, to this website!) I'm not really satisfied with that anymore.
<br />
<br />I've been interested in getting more testing done, either on her or possibly having gene sequencing done on my husband. But since she shows no symptoms, our family doctor and everyone at my CF center have completely dismissed my concerns. Usually saying something like "She's growing fine, so you don't have to worry about it." I'm beyond frustrated with this. I can't seem to make them realize that the only way I'll be satisfied is if I KNOW FOR CERTAIN that Adam is not a carrier...of ANY known mutation, not just 32 of them.
<br />
<br />If the doctors are unwilling to help, how can I pursue futher (affordable) testing on my own?
<br />
 
E

ehtansky21

New member
find another doctor jenny!!!!

be very clear about the possibilities, even if they are slight, of her having CF and about how many people you know who have had not symptoms until a lot later in life and how if your child does have CF, it is imperative to start treatment ASAP!!!

Also, let them know that it would help to ease your mind, which is so important. If you are like me, it would never leave my mind, until I knew as sure as I could possibly know.

Now, be aware, that the Ambry testing is the way to go, but it was very expensive for us, even though they excepted our insurance. They put us on a payment plan of only $25 a month until it was paid off though.

blessings,
missa
 
E

ehtansky21

New member
find another doctor jenny!!!!

be very clear about the possibilities, even if they are slight, of her having CF and about how many people you know who have had not symptoms until a lot later in life and how if your child does have CF, it is imperative to start treatment ASAP!!!

Also, let them know that it would help to ease your mind, which is so important. If you are like me, it would never leave my mind, until I knew as sure as I could possibly know.

Now, be aware, that the Ambry testing is the way to go, but it was very expensive for us, even though they excepted our insurance. They put us on a payment plan of only $25 a month until it was paid off though.

blessings,
missa
 
E

ehtansky21

New member
find another doctor jenny!!!!
<br />
<br />be very clear about the possibilities, even if they are slight, of her having CF and about how many people you know who have had not symptoms until a lot later in life and how if your child does have CF, it is imperative to start treatment ASAP!!!
<br />
<br />Also, let them know that it would help to ease your mind, which is so important. If you are like me, it would never leave my mind, until I knew as sure as I could possibly know.
<br />
<br />Now, be aware, that the Ambry testing is the way to go, but it was very expensive for us, even though they excepted our insurance. They put us on a payment plan of only $25 a month until it was paid off though.
<br />
<br />blessings,
<br />missa
<br />
 
M

Mommafirst

Guest
Perhaps you can take a different route. Instead of trying to test your daughter, what about meeting with a geneticist and requesting full ambry testing for your husband as a way to plan for the potential of another child? This is hard, but I think you make a lot of sense. Best of luck!!
 
M

Mommafirst

Guest
Perhaps you can take a different route. Instead of trying to test your daughter, what about meeting with a geneticist and requesting full ambry testing for your husband as a way to plan for the potential of another child? This is hard, but I think you make a lot of sense. Best of luck!!
 
M

Mommafirst

Guest
Perhaps you can take a different route. Instead of trying to test your daughter, what about meeting with a geneticist and requesting full ambry testing for your husband as a way to plan for the potential of another child? This is hard, but I think you make a lot of sense. Best of luck!!
 
J

jbrandonAW

New member
I'm going through the SAME thing, except my daughter HAS symptoms.

My husband was tested for the 98 most common and it was negative.

My daughter was dx'd as failure to thrive at 6 months. She has very odd poop- soft one day hard the next. She had a MRSA lung infection around 6 months.

She had a sweat test done around 6/7 months and it was negative. However I've been told they aren't reliable until after 1. SOOO right now were are trying to get approval for a full genetic panel.
 
J

jbrandonAW

New member
I'm going through the SAME thing, except my daughter HAS symptoms.

My husband was tested for the 98 most common and it was negative.

My daughter was dx'd as failure to thrive at 6 months. She has very odd poop- soft one day hard the next. She had a MRSA lung infection around 6 months.

She had a sweat test done around 6/7 months and it was negative. However I've been told they aren't reliable until after 1. SOOO right now were are trying to get approval for a full genetic panel.
 
J

jbrandonAW

New member
I'm going through the SAME thing, except my daughter HAS symptoms.
<br />
<br />My husband was tested for the 98 most common and it was negative.
<br />
<br />My daughter was dx'd as failure to thrive at 6 months. She has very odd poop- soft one day hard the next. She had a MRSA lung infection around 6 months.
<br />
<br />She had a sweat test done around 6/7 months and it was negative. However I've been told they aren't reliable until after 1. SOOO right now were are trying to get approval for a full genetic panel.
 
J

jennylivingston

Guest
Thanks, ladies! I tend to obsess over things, and I've basically been told that's what I'm doing with this situation. So, it's great to have my concerns validated.

I've heard that the Ambry is expensive, but it really does sound like the best way to go.

Heather, I spoke briefly with a geneticist while I was pregnant. She usually only takes patients with a doctors referral, but since we've already consulted maybe I can get in to see her again. Thanks for the idea, I'd never thought about approaching it from that angle.

Again, thank you everyone!
 
J

jennylivingston

Guest
Thanks, ladies! I tend to obsess over things, and I've basically been told that's what I'm doing with this situation. So, it's great to have my concerns validated.

I've heard that the Ambry is expensive, but it really does sound like the best way to go.

Heather, I spoke briefly with a geneticist while I was pregnant. She usually only takes patients with a doctors referral, but since we've already consulted maybe I can get in to see her again. Thanks for the idea, I'd never thought about approaching it from that angle.

Again, thank you everyone!
 
J

jennylivingston

Guest
Thanks, ladies! I tend to obsess over things, and I've basically been told that's what I'm doing with this situation. So, it's great to have my concerns validated.
<br />
<br />I've heard that the Ambry is expensive, but it really does sound like the best way to go.
<br />
<br />Heather, I spoke briefly with a geneticist while I was pregnant. She usually only takes patients with a doctors referral, but since we've already consulted maybe I can get in to see her again. Thanks for the idea, I'd never thought about approaching it from that angle.
<br />
<br />Again, thank you everyone!
 
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