What level of genetic testing have your parents had?

LouLou · Jan 25, 2008

Another thing that fires me up...
When a woman is found to be a carrier through blood work up in prenatal stages of pregnancy she is made aware and briefed on the genetics side of cf as well as a brief explanation of what it is. Then she is advised to get her husband carrier tested. OFTEN TIMES THE TEST THAT IS PERFORMED IS THE 30 MUTATION TEST. Since according to the data that the geneticist dishes out (personally I think is BS) is that that test covers 95% of the mutations. How can they be so sure? Why wouldn't they suggest sequencing the husband??? Often the husband comes out negative and they go on their marry way thinking all is fine and dandy. When in fact if they were sequenced they vary well could have one of the 1800 mutations!! What really makes me made is that they don't even plant a seed in mom's head that the possibility still exists. Some might say, "Well why be negative Lauren?" I say, "Let's be honest." We'd have a hell of a lot more mom/dad posting prenatally in the newly diagnosed section. Maybe it's an anti-abortion move. Anyone know what percentage of people that find out their baby has cf in utero abort?

I'm just saying at least tell the parents there's still a chance and to consider further testing once the baby arrives. Doctors should be pushing preventative care if we really want to see that 36.8 number rise.

LouLou · Jan 25, 2008

Another thing that fires me up...
When a woman is found to be a carrier through blood work up in prenatal stages of pregnancy she is made aware and briefed on the genetics side of cf as well as a brief explanation of what it is. Then she is advised to get her husband carrier tested. OFTEN TIMES THE TEST THAT IS PERFORMED IS THE 30 MUTATION TEST. Since according to the data that the geneticist dishes out (personally I think is BS) is that that test covers 95% of the mutations. How can they be so sure? Why wouldn't they suggest sequencing the husband??? Often the husband comes out negative and they go on their marry way thinking all is fine and dandy. When in fact if they were sequenced they vary well could have one of the 1800 mutations!! What really makes me made is that they don't even plant a seed in mom's head that the possibility still exists. Some might say, "Well why be negative Lauren?" I say, "Let's be honest." We'd have a hell of a lot more mom/dad posting prenatally in the newly diagnosed section. Maybe it's an anti-abortion move. Anyone know what percentage of people that find out their baby has cf in utero abort?

I'm just saying at least tell the parents there's still a chance and to consider further testing once the baby arrives. Doctors should be pushing preventative care if we really want to see that 36.8 number rise.

LouLou · Jan 25, 2008

Another thing that fires me up...
When a woman is found to be a carrier through blood work up in prenatal stages of pregnancy she is made aware and briefed on the genetics side of cf as well as a brief explanation of what it is. Then she is advised to get her husband carrier tested. OFTEN TIMES THE TEST THAT IS PERFORMED IS THE 30 MUTATION TEST. Since according to the data that the geneticist dishes out (personally I think is BS) is that that test covers 95% of the mutations. How can they be so sure? Why wouldn't they suggest sequencing the husband??? Often the husband comes out negative and they go on their marry way thinking all is fine and dandy. When in fact if they were sequenced they vary well could have one of the 1800 mutations!! What really makes me made is that they don't even plant a seed in mom's head that the possibility still exists. Some might say, "Well why be negative Lauren?" I say, "Let's be honest." We'd have a hell of a lot more mom/dad posting prenatally in the newly diagnosed section. Maybe it's an anti-abortion move. Anyone know what percentage of people that find out their baby has cf in utero abort?

I'm just saying at least tell the parents there's still a chance and to consider further testing once the baby arrives. Doctors should be pushing preventative care if we really want to see that 36.8 number rise.

LouLou · Jan 25, 2008

Another thing that fires me up...
When a woman is found to be a carrier through blood work up in prenatal stages of pregnancy she is made aware and briefed on the genetics side of cf as well as a brief explanation of what it is. Then she is advised to get her husband carrier tested. OFTEN TIMES THE TEST THAT IS PERFORMED IS THE 30 MUTATION TEST. Since according to the data that the geneticist dishes out (personally I think is BS) is that that test covers 95% of the mutations. How can they be so sure? Why wouldn't they suggest sequencing the husband??? Often the husband comes out negative and they go on their marry way thinking all is fine and dandy. When in fact if they were sequenced they vary well could have one of the 1800 mutations!! What really makes me made is that they don't even plant a seed in mom's head that the possibility still exists. Some might say, "Well why be negative Lauren?" I say, "Let's be honest." We'd have a hell of a lot more mom/dad posting prenatally in the newly diagnosed section. Maybe it's an anti-abortion move. Anyone know what percentage of people that find out their baby has cf in utero abort?

I'm just saying at least tell the parents there's still a chance and to consider further testing once the baby arrives. Doctors should be pushing preventative care if we really want to see that 36.8 number rise.

LouLou · Jan 25, 2008

Another thing that fires me up...
When a woman is found to be a carrier through blood work up in prenatal stages of pregnancy she is made aware and briefed on the genetics side of cf as well as a brief explanation of what it is. Then she is advised to get her husband carrier tested. OFTEN TIMES THE TEST THAT IS PERFORMED IS THE 30 MUTATION TEST. Since according to the data that the geneticist dishes out (personally I think is BS) is that that test covers 95% of the mutations. How can they be so sure? Why wouldn't they suggest sequencing the husband??? Often the husband comes out negative and they go on their marry way thinking all is fine and dandy. When in fact if they were sequenced they vary well could have one of the 1800 mutations!! What really makes me made is that they don't even plant a seed in mom's head that the possibility still exists. Some might say, "Well why be negative Lauren?" I say, "Let's be honest." We'd have a hell of a lot more mom/dad posting prenatally in the newly diagnosed section. Maybe it's an anti-abortion move. Anyone know what percentage of people that find out their baby has cf in utero abort?

I'm just saying at least tell the parents there's still a chance and to consider further testing once the baby arrives. Doctors should be pushing preventative care if we really want to see that 36.8 number rise.

LouLou · Jan 25, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>sakasuka</b></i>

I can't figure out how people let doctors dictate whether or not tests are done or what level of tests are done.

Don't give up.....</end quote></div>

Maybe someone can answer this with regards to people on this site. I'm going to take it from the general America perspective...

because the majority of America still treats doctor as God. We have to remember there are still many people who don't know what cf is so when the doctor mentions "the test for cf" (whether referring to sweat, genetic panel or genetic sequencing) they take it at face value and don't assume there are multiple ways to test or that the doctor would be accepting an inferior method of concluding that their child doesn't have cf.

Now the question is...Will there still be doctors interested in the field once a large part of the population is an E-patient and demanding to boot? Couple that with the small "reasonable and customary" fees that insurance is allowing them to actually collect and the physician profession is looking less and less attractive. Talk to a high school college counselor and you would see that there's a real change in where the smartest students are going. It's not as much medicine as before.

Personally I could see the e-patient being the melt down to the whole system. In a good way though let me explain. Of course, the medical profession will always be in high demand and there will always be people that want a job "where they can make a difference." But will it revert to a profession more like pre HMO days? I wouldn't be opposed. By "pre HMO days" I'm talking about how before managed care was suggested (was it Nixon I'm drawing a blank). Their were docs and patients paid the doctor for the services they needed. The customer (patient) is empowered to go the best doctor possible their money can buy (like Amy is talking about). It creates a healthy competition amongst doctors I would believe. Obviously this has it's disadvantage for cfers with our extreme number of doctors/hospital visits. Put on your "average Joe American hat" here. Our current system has so many hoops and loops and things for people to do before they can receive treatment that many (even well educated, with good insurance and financially capable) just don't bother. How much is this negligent care costing our health system? I bet if you each think about your family you won't have to think too long to think of someone that embodies this apathy I'm talking about. Is it their fault or the systems?

LouLou · Jan 25, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>sakasuka</b></i>

I can't figure out how people let doctors dictate whether or not tests are done or what level of tests are done.

Don't give up.....</end quote></div>

Maybe someone can answer this with regards to people on this site. I'm going to take it from the general America perspective...

because the majority of America still treats doctor as God. We have to remember there are still many people who don't know what cf is so when the doctor mentions "the test for cf" (whether referring to sweat, genetic panel or genetic sequencing) they take it at face value and don't assume there are multiple ways to test or that the doctor would be accepting an inferior method of concluding that their child doesn't have cf.

Now the question is...Will there still be doctors interested in the field once a large part of the population is an E-patient and demanding to boot? Couple that with the small "reasonable and customary" fees that insurance is allowing them to actually collect and the physician profession is looking less and less attractive. Talk to a high school college counselor and you would see that there's a real change in where the smartest students are going. It's not as much medicine as before.

Personally I could see the e-patient being the melt down to the whole system. In a good way though let me explain. Of course, the medical profession will always be in high demand and there will always be people that want a job "where they can make a difference." But will it revert to a profession more like pre HMO days? I wouldn't be opposed. By "pre HMO days" I'm talking about how before managed care was suggested (was it Nixon I'm drawing a blank). Their were docs and patients paid the doctor for the services they needed. The customer (patient) is empowered to go the best doctor possible their money can buy (like Amy is talking about). It creates a healthy competition amongst doctors I would believe. Obviously this has it's disadvantage for cfers with our extreme number of doctors/hospital visits. Put on your "average Joe American hat" here. Our current system has so many hoops and loops and things for people to do before they can receive treatment that many (even well educated, with good insurance and financially capable) just don't bother. How much is this negligent care costing our health system? I bet if you each think about your family you won't have to think too long to think of someone that embodies this apathy I'm talking about. Is it their fault or the systems?

LouLou · Jan 25, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>sakasuka</b></i>

I can't figure out how people let doctors dictate whether or not tests are done or what level of tests are done.

Don't give up.....</end quote></div>

Maybe someone can answer this with regards to people on this site. I'm going to take it from the general America perspective...

because the majority of America still treats doctor as God. We have to remember there are still many people who don't know what cf is so when the doctor mentions "the test for cf" (whether referring to sweat, genetic panel or genetic sequencing) they take it at face value and don't assume there are multiple ways to test or that the doctor would be accepting an inferior method of concluding that their child doesn't have cf.

Now the question is...Will there still be doctors interested in the field once a large part of the population is an E-patient and demanding to boot? Couple that with the small "reasonable and customary" fees that insurance is allowing them to actually collect and the physician profession is looking less and less attractive. Talk to a high school college counselor and you would see that there's a real change in where the smartest students are going. It's not as much medicine as before.

Personally I could see the e-patient being the melt down to the whole system. In a good way though let me explain. Of course, the medical profession will always be in high demand and there will always be people that want a job "where they can make a difference." But will it revert to a profession more like pre HMO days? I wouldn't be opposed. By "pre HMO days" I'm talking about how before managed care was suggested (was it Nixon I'm drawing a blank). Their were docs and patients paid the doctor for the services they needed. The customer (patient) is empowered to go the best doctor possible their money can buy (like Amy is talking about). It creates a healthy competition amongst doctors I would believe. Obviously this has it's disadvantage for cfers with our extreme number of doctors/hospital visits. Put on your "average Joe American hat" here. Our current system has so many hoops and loops and things for people to do before they can receive treatment that many (even well educated, with good insurance and financially capable) just don't bother. How much is this negligent care costing our health system? I bet if you each think about your family you won't have to think too long to think of someone that embodies this apathy I'm talking about. Is it their fault or the systems?

LouLou · Jan 25, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>sakasuka</b></i>

I can't figure out how people let doctors dictate whether or not tests are done or what level of tests are done.

Don't give up.....</end quote>

Maybe someone can answer this with regards to people on this site. I'm going to take it from the general America perspective...

because the majority of America still treats doctor as God. We have to remember there are still many people who don't know what cf is so when the doctor mentions "the test for cf" (whether referring to sweat, genetic panel or genetic sequencing) they take it at face value and don't assume there are multiple ways to test or that the doctor would be accepting an inferior method of concluding that their child doesn't have cf.

Now the question is...Will there still be doctors interested in the field once a large part of the population is an E-patient and demanding to boot? Couple that with the small "reasonable and customary" fees that insurance is allowing them to actually collect and the physician profession is looking less and less attractive. Talk to a high school college counselor and you would see that there's a real change in where the smartest students are going. It's not as much medicine as before.

Personally I could see the e-patient being the melt down to the whole system. In a good way though let me explain. Of course, the medical profession will always be in high demand and there will always be people that want a job "where they can make a difference." But will it revert to a profession more like pre HMO days? I wouldn't be opposed. By "pre HMO days" I'm talking about how before managed care was suggested (was it Nixon I'm drawing a blank). Their were docs and patients paid the doctor for the services they needed. The customer (patient) is empowered to go the best doctor possible their money can buy (like Amy is talking about). It creates a healthy competition amongst doctors I would believe. Obviously this has it's disadvantage for cfers with our extreme number of doctors/hospital visits. Put on your "average Joe American hat" here. Our current system has so many hoops and loops and things for people to do before they can receive treatment that many (even well educated, with good insurance and financially capable) just don't bother. How much is this negligent care costing our health system? I bet if you each think about your family you won't have to think too long to think of someone that embodies this apathy I'm talking about. Is it their fault or the systems?

LouLou · Jan 25, 2008

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>sakasuka</b></i>

I can't figure out how people let doctors dictate whether or not tests are done or what level of tests are done.

Don't give up.....</end quote>

Maybe someone can answer this with regards to people on this site. I'm going to take it from the general America perspective...

because the majority of America still treats doctor as God. We have to remember there are still many people who don't know what cf is so when the doctor mentions "the test for cf" (whether referring to sweat, genetic panel or genetic sequencing) they take it at face value and don't assume there are multiple ways to test or that the doctor would be accepting an inferior method of concluding that their child doesn't have cf.

Now the question is...Will there still be doctors interested in the field once a large part of the population is an E-patient and demanding to boot? Couple that with the small "reasonable and customary" fees that insurance is allowing them to actually collect and the physician profession is looking less and less attractive. Talk to a high school college counselor and you would see that there's a real change in where the smartest students are going. It's not as much medicine as before.

Personally I could see the e-patient being the melt down to the whole system. In a good way though let me explain. Of course, the medical profession will always be in high demand and there will always be people that want a job "where they can make a difference." But will it revert to a profession more like pre HMO days? I wouldn't be opposed. By "pre HMO days" I'm talking about how before managed care was suggested (was it Nixon I'm drawing a blank). Their were docs and patients paid the doctor for the services they needed. The customer (patient) is empowered to go the best doctor possible their money can buy (like Amy is talking about). It creates a healthy competition amongst doctors I would believe. Obviously this has it's disadvantage for cfers with our extreme number of doctors/hospital visits. Put on your "average Joe American hat" here. Our current system has so many hoops and loops and things for people to do before they can receive treatment that many (even well educated, with good insurance and financially capable) just don't bother. How much is this negligent care costing our health system? I bet if you each think about your family you won't have to think too long to think of someone that embodies this apathy I'm talking about. Is it their fault or the systems?

bittyhorse23 · Jan 25, 2008

Neither of my parents have been tested as far as I know but neither of them show any symptoms what-so-ever. I might add that they both smoke as well and have for years. I don't know if my brother was tested or my SIL, but my nephew was I believe and he doesn't have CF. And she is pregnant again so I don't know if they will get the new one tested or not.

I'm going to have to look into this more now that you piqued my interest <img src="i/expressions/face-icon-small-smile.gif" border="0">

bittyhorse23 · Jan 25, 2008

Neither of my parents have been tested as far as I know but neither of them show any symptoms what-so-ever. I might add that they both smoke as well and have for years. I don't know if my brother was tested or my SIL, but my nephew was I believe and he doesn't have CF. And she is pregnant again so I don't know if they will get the new one tested or not.

I'm going to have to look into this more now that you piqued my interest <img src="i/expressions/face-icon-small-smile.gif" border="0">

bittyhorse23 · Jan 25, 2008

Neither of my parents have been tested as far as I know but neither of them show any symptoms what-so-ever. I might add that they both smoke as well and have for years. I don't know if my brother was tested or my SIL, but my nephew was I believe and he doesn't have CF. And she is pregnant again so I don't know if they will get the new one tested or not.

I'm going to have to look into this more now that you piqued my interest <img src="i/expressions/face-icon-small-smile.gif" border="0">

bittyhorse23 · Jan 25, 2008

Neither of my parents have been tested as far as I know but neither of them show any symptoms what-so-ever. I might add that they both smoke as well and have for years. I don't know if my brother was tested or my SIL, but my nephew was I believe and he doesn't have CF. And she is pregnant again so I don't know if they will get the new one tested or not.

I'm going to have to look into this more now that you piqued my interest <img src="i/expressions/face-icon-small-smile.gif" border="0">

bittyhorse23 · Jan 25, 2008

Neither of my parents have been tested as far as I know but neither of them show any symptoms what-so-ever. I might add that they both smoke as well and have for years. I don't know if my brother was tested or my SIL, but my nephew was I believe and he doesn't have CF. And she is pregnant again so I don't know if they will get the new one tested or not.

I'm going to have to look into this more now that you piqued my interest <img src="i/expressions/face-icon-small-smile.gif" border="0">

mamerth · Jan 25, 2008