Pre-natal Screening

[carrierae21]

The best about the CF genetic test while pregnant is that mine came back positive and when we needed to test my hubby, insurance only covered a minute amount of his test. I guess insurance companies decide that it's not important to find out if both parties are carriers... I, like many others, did not have an amnio so we waited for the PKU results. They had just started screening for CF September 1st, 2007 (our due date was October 6th) and our daughter was born September 27th. The PKU came back negative so my husband and took a deep breath a relaxed. I just wanted to find out if our daughter was a carrier since we knew we were both carriers. The carrier test came back with two genes... uh oh... and we were referred to pulmonary for a sweat test. Of course that was positive and here we are today. My only wish is that the PKU had been a more comclusive test. I know that there are tons of mutations, but I don't think it's fair to say definitively negative when in fact, they cannot be definitive! Sorry for the rant... and ramble

 

[carrierae21]

The best about the CF genetic test while pregnant is that mine came back positive and when we needed to test my hubby, insurance only covered a minute amount of his test. I guess insurance companies decide that it's not important to find out if both parties are carriers... I, like many others, did not have an amnio so we waited for the PKU results. They had just started screening for CF September 1st, 2007 (our due date was October 6th) and our daughter was born September 27th. The PKU came back negative so my husband and took a deep breath a relaxed. I just wanted to find out if our daughter was a carrier since we knew we were both carriers. The carrier test came back with two genes... uh oh... and we were referred to pulmonary for a sweat test. Of course that was positive and here we are today. My only wish is that the PKU had been a more comclusive test. I know that there are tons of mutations, but I don't think it's fair to say definitively negative when in fact, they cannot be definitive! Sorry for the rant... and ramble

 

[carrierae21]

The best about the CF genetic test while pregnant is that mine came back positive and when we needed to test my hubby, insurance only covered a minute amount of his test. I guess insurance companies decide that it's not important to find out if both parties are carriers... I, like many others, did not have an amnio so we waited for the PKU results. They had just started screening for CF September 1st, 2007 (our due date was October 6th) and our daughter was born September 27th. The PKU came back negative so my husband and took a deep breath a relaxed. I just wanted to find out if our daughter was a carrier since we knew we were both carriers. The carrier test came back with two genes... uh oh... and we were referred to pulmonary for a sweat test. Of course that was positive and here we are today. My only wish is that the PKU had been a more comclusive test. I know that there are tons of mutations, but I don't think it's fair to say definitively negative when in fact, they cannot be definitive! Sorry for the rant... and ramble

 

[carrierae21]

The best about the CF genetic test while pregnant is that mine came back positive and when we needed to test my hubby, insurance only covered a minute amount of his test. I guess insurance companies decide that it's not important to find out if both parties are carriers... I, like many others, did not have an amnio so we waited for the PKU results. They had just started screening for CF September 1st, 2007 (our due date was October 6th) and our daughter was born September 27th. The PKU came back negative so my husband and took a deep breath a relaxed. I just wanted to find out if our daughter was a carrier since we knew we were both carriers. The carrier test came back with two genes... uh oh... and we were referred to pulmonary for a sweat test. Of course that was positive and here we are today. My only wish is that the PKU had been a more comclusive test. I know that there are tons of mutations, but I don't think it's fair to say definitively negative when in fact, they cannot be definitive! Sorry for the rant... and ramble

 

[carrierae21]

The best about the CF genetic test while pregnant is that mine came back positive and when we needed to test my hubby, insurance only covered a minute amount of his test. I guess insurance companies decide that it's not important to find out if both parties are carriers... I, like many others, did not have an amnio so we waited for the PKU results. They had just started screening for CF September 1st, 2007 (our due date was October 6th) and our daughter was born September 27th. The PKU came back negative so my husband and took a deep breath a relaxed. I just wanted to find out if our daughter was a carrier since we knew we were both carriers. The carrier test came back with two genes... uh oh... and we were referred to pulmonary for a sweat test. Of course that was positive and here we are today. My only wish is that the PKU had been a more comclusive test. I know that there are tons of mutations, but I don't think it's fair to say definitively negative when in fact, they cannot be definitive! Sorry for the rant... and ramble

 

[Tiffado]

Carrie-

The PKU test is a completly different test. It is part of the newborn screening panel in most states I believe. PKU stands for Phenylketonuria. You can google the three letters or the whole word for more info.

The CF screen looks for mutations on the gene. There are different levels of screening for the 1500+ different mutations. Most pre-nantal screens and I believe most newborn screening panels include only the 30ish most common.

I just didnt want you to be confused. It is good the PKU came back negative as must have all the other tests they do on the panel there in florida. Below is a link for you to see what tests they ran on her cord blood.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
">http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
</a>

 

[Tiffado]

Carrie-

The PKU test is a completly different test. It is part of the newborn screening panel in most states I believe. PKU stands for Phenylketonuria. You can google the three letters or the whole word for more info.

The CF screen looks for mutations on the gene. There are different levels of screening for the 1500+ different mutations. Most pre-nantal screens and I believe most newborn screening panels include only the 30ish most common.

I just didnt want you to be confused. It is good the PKU came back negative as must have all the other tests they do on the panel there in florida. Below is a link for you to see what tests they ran on her cord blood.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
">http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
</a>

 

[Tiffado]

Carrie-

The PKU test is a completly different test. It is part of the newborn screening panel in most states I believe. PKU stands for Phenylketonuria. You can google the three letters or the whole word for more info.

The CF screen looks for mutations on the gene. There are different levels of screening for the 1500+ different mutations. Most pre-nantal screens and I believe most newborn screening panels include only the 30ish most common.

I just didnt want you to be confused. It is good the PKU came back negative as must have all the other tests they do on the panel there in florida. Below is a link for you to see what tests they ran on her cord blood.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
">http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
</a>

 

[Tiffado]

Carrie-

The PKU test is a completly different test. It is part of the newborn screening panel in most states I believe. PKU stands for Phenylketonuria. You can google the three letters or the whole word for more info.

The CF screen looks for mutations on the gene. There are different levels of screening for the 1500+ different mutations. Most pre-nantal screens and I believe most newborn screening panels include only the 30ish most common.

I just didnt want you to be confused. It is good the PKU came back negative as must have all the other tests they do on the panel there in florida. Below is a link for you to see what tests they ran on her cord blood.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
">http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
</a>

 

[Tiffado]

Carrie-
<br />
<br />The PKU test is a completly different test. It is part of the newborn screening panel in most states I believe. PKU stands for Phenylketonuria. You can google the three letters or the whole word for more info.
<br />
<br />The CF screen looks for mutations on the gene. There are different levels of screening for the 1500+ different mutations. Most pre-nantal screens and I believe most newborn screening panels include only the 30ish most common.
<br />
<br />I just didnt want you to be confused. It is good the PKU came back negative as must have all the other tests they do on the panel there in florida. Below is a link for you to see what tests they ran on her cord blood.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
">http://www.doh.state.fl.us/Cms/nbscreen-disorder.html
</a><br />
<br />
<br />

 

[Ratatosk]

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

Ive just read sooo many times people commenting back to someone who says atypical or mild.....saying there is no such thing as either. And frankly-it annoys me!</end quote></div>

Sorry it annoys you, but IMO, with CF you have to be vigilant. I have issues with people (in my experience the local cf clinic) labeling CF as mild and not taking any agressive action in terms of care. CFers are born with normal lungs and eventually they will be affected. Could be YEARS away depending upon the genetic mutations, things they culture. Cepacia is a biggy in terms of causing a decline (sometimes rapid) in health

I'm not pointing fingers, saying that's what you or anyone else here is doing. I'd just rather go into this with my eyes wide open. Be prepared.

As far as genetic testing. DH's own cousin tried to get carrier testing done last year as they were planning to have another child. Both she and I spent WEEKS trying to get someone to perform testing. The head of the local CF program told me that "your cousin needs to think long and hard as to why she wants testing, as it's most likely not covered by insurance". Hello?!

 

[Ratatosk]

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

Ive just read sooo many times people commenting back to someone who says atypical or mild.....saying there is no such thing as either. And frankly-it annoys me!</end quote></div>

Sorry it annoys you, but IMO, with CF you have to be vigilant. I have issues with people (in my experience the local cf clinic) labeling CF as mild and not taking any agressive action in terms of care. CFers are born with normal lungs and eventually they will be affected. Could be YEARS away depending upon the genetic mutations, things they culture. Cepacia is a biggy in terms of causing a decline (sometimes rapid) in health

I'm not pointing fingers, saying that's what you or anyone else here is doing. I'd just rather go into this with my eyes wide open. Be prepared.

As far as genetic testing. DH's own cousin tried to get carrier testing done last year as they were planning to have another child. Both she and I spent WEEKS trying to get someone to perform testing. The head of the local CF program told me that "your cousin needs to think long and hard as to why she wants testing, as it's most likely not covered by insurance". Hello?!

 

[Ratatosk]

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

Ive just read sooo many times people commenting back to someone who says atypical or mild.....saying there is no such thing as either. And frankly-it annoys me!</end quote></div>

Sorry it annoys you, but IMO, with CF you have to be vigilant. I have issues with people (in my experience the local cf clinic) labeling CF as mild and not taking any agressive action in terms of care. CFers are born with normal lungs and eventually they will be affected. Could be YEARS away depending upon the genetic mutations, things they culture. Cepacia is a biggy in terms of causing a decline (sometimes rapid) in health

I'm not pointing fingers, saying that's what you or anyone else here is doing. I'd just rather go into this with my eyes wide open. Be prepared.

As far as genetic testing. DH's own cousin tried to get carrier testing done last year as they were planning to have another child. Both she and I spent WEEKS trying to get someone to perform testing. The head of the local CF program told me that "your cousin needs to think long and hard as to why she wants testing, as it's most likely not covered by insurance". Hello?!

 

[Ratatosk]

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

Ive just read sooo many times people commenting back to someone who says atypical or mild.....saying there is no such thing as either. And frankly-it annoys me!</end quote>

Sorry it annoys you, but IMO, with CF you have to be vigilant. I have issues with people (in my experience the local cf clinic) labeling CF as mild and not taking any agressive action in terms of care. CFers are born with normal lungs and eventually they will be affected. Could be YEARS away depending upon the genetic mutations, things they culture. Cepacia is a biggy in terms of causing a decline (sometimes rapid) in health

I'm not pointing fingers, saying that's what you or anyone else here is doing. I'd just rather go into this with my eyes wide open. Be prepared.

As far as genetic testing. DH's own cousin tried to get carrier testing done last year as they were planning to have another child. Both she and I spent WEEKS trying to get someone to perform testing. The head of the local CF program told me that "your cousin needs to think long and hard as to why she wants testing, as it's most likely not covered by insurance". Hello?!

 

[Ratatosk]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Tiffado</b></i>
<br />
<br />Ive just read sooo many times people commenting back to someone who says atypical or mild.....saying there is no such thing as either. And frankly-it annoys me!</end quote>
<br />
<br />Sorry it annoys you, but IMO, with CF you have to be vigilant. I have issues with people (in my experience the local cf clinic) labeling CF as mild and not taking any agressive action in terms of care. CFers are born with normal lungs and eventually they will be affected. Could be YEARS away depending upon the genetic mutations, things they culture. Cepacia is a biggy in terms of causing a decline (sometimes rapid) in health
<br />
<br />I'm not pointing fingers, saying that's what you or anyone else here is doing. I'd just rather go into this with my eyes wide open. Be prepared.
<br />
<br />As far as genetic testing. DH's own cousin tried to get carrier testing done last year as they were planning to have another child. Both she and I spent WEEKS trying to get someone to perform testing. The head of the local CF program told me that "your cousin needs to think long and hard as to why she wants testing, as it's most likely not covered by insurance". Hello?!

 

[Tiffado]

I agree Liza with being vigilant. I just get frustrated bc there IS a huge spectrum of how CFers will be affected and it IS dependent on the mutations the person has. My daughters labwork states 'mild' or 'atypical' and this is how her doctors refer to her as well. At this point (3 months) she is pancreatic suffcient and has no signs or symptoms. Her sweat test results were 11 and 15. She is gaining weight and has no lung smyptoms. People studied with this combo tend to show signs in their later years-so yes being proactive is important. Yes she is and will continue to be followed by a CF clinic. Yes two people with the same genetic makeup may present differently. But do I have to think about her CF as much as other mothers may have to....I dont think so.

I just dont understand why people get so defensive about the whole thing....CF is CF. Mild, severe, whatever! We are all in this together. I dont think those of us with atypical cases should have to 'defend' anymore than those of us with typical cases. There should be an understanding-especially here. That is all Im saying.

 

[Tiffado]

I agree Liza with being vigilant. I just get frustrated bc there IS a huge spectrum of how CFers will be affected and it IS dependent on the mutations the person has. My daughters labwork states 'mild' or 'atypical' and this is how her doctors refer to her as well. At this point (3 months) she is pancreatic suffcient and has no signs or symptoms. Her sweat test results were 11 and 15. She is gaining weight and has no lung smyptoms. People studied with this combo tend to show signs in their later years-so yes being proactive is important. Yes she is and will continue to be followed by a CF clinic. Yes two people with the same genetic makeup may present differently. But do I have to think about her CF as much as other mothers may have to....I dont think so.

I just dont understand why people get so defensive about the whole thing....CF is CF. Mild, severe, whatever! We are all in this together. I dont think those of us with atypical cases should have to 'defend' anymore than those of us with typical cases. There should be an understanding-especially here. That is all Im saying.

 

[Tiffado]

I agree Liza with being vigilant. I just get frustrated bc there IS a huge spectrum of how CFers will be affected and it IS dependent on the mutations the person has. My daughters labwork states 'mild' or 'atypical' and this is how her doctors refer to her as well. At this point (3 months) she is pancreatic suffcient and has no signs or symptoms. Her sweat test results were 11 and 15. She is gaining weight and has no lung smyptoms. People studied with this combo tend to show signs in their later years-so yes being proactive is important. Yes she is and will continue to be followed by a CF clinic. Yes two people with the same genetic makeup may present differently. But do I have to think about her CF as much as other mothers may have to....I dont think so.

I just dont understand why people get so defensive about the whole thing....CF is CF. Mild, severe, whatever! We are all in this together. I dont think those of us with atypical cases should have to 'defend' anymore than those of us with typical cases. There should be an understanding-especially here. That is all Im saying.

 

[Tiffado]

I agree Liza with being vigilant. I just get frustrated bc there IS a huge spectrum of how CFers will be affected and it IS dependent on the mutations the person has. My daughters labwork states 'mild' or 'atypical' and this is how her doctors refer to her as well. At this point (3 months) she is pancreatic suffcient and has no signs or symptoms. Her sweat test results were 11 and 15. She is gaining weight and has no lung smyptoms. People studied with this combo tend to show signs in their later years-so yes being proactive is important. Yes she is and will continue to be followed by a CF clinic. Yes two people with the same genetic makeup may present differently. But do I have to think about her CF as much as other mothers may have to....I dont think so.

I just dont understand why people get so defensive about the whole thing....CF is CF. Mild, severe, whatever! We are all in this together. I dont think those of us with atypical cases should have to 'defend' anymore than those of us with typical cases. There should be an understanding-especially here. That is all Im saying.

 

[Tiffado]

I agree Liza with being vigilant. I just get frustrated bc there IS a huge spectrum of how CFers will be affected and it IS dependent on the mutations the person has. My daughters labwork states 'mild' or 'atypical' and this is how her doctors refer to her as well. At this point (3 months) she is pancreatic suffcient and has no signs or symptoms. Her sweat test results were 11 and 15. She is gaining weight and has no lung smyptoms. People studied with this combo tend to show signs in their later years-so yes being proactive is important. Yes she is and will continue to be followed by a CF clinic. Yes two people with the same genetic makeup may present differently. But do I have to think about her CF as much as other mothers may have to....I dont think so.
<br />
<br />I just dont understand why people get so defensive about the whole thing....CF is CF. Mild, severe, whatever! We are all in this together. I dont think those of us with atypical cases should have to 'defend' anymore than those of us with typical cases. There should be an understanding-especially here. That is all Im saying.
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