Amnio diagnosis....now what happens?

S

saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>pnut1975</b></i>

I would assume that they will test her once she is born with the sweat test to confirm. </end quote></div>

sweat tests give false negatives more often than genetic tests do. so i would push for another genetic test to confirm if anything... a sweat test won't do you much good.

we have many CFer's on this site who have a negative sweat test but have CF

I would recommend that you go to my blog (link below) and go to the Warwick section. Read an article about him and CF care from the New Yorker. It will really open your eyes....

<div class="FTQUOTE"><begin quote>
How do you find out if you are one of the 10% that would benefit?

</end quote></div>

Not sure if others responded to this, but if your child has 2 copies of DF508 then he or she is not a candidate for Ataluren.

Keep in mind this community has seen many drugs that had the potential to correct the defective gene come and go.

But focusing on 100% compliance and attending the best, most proactive CF center around will suffice until/ if we get more drugs to help this disease.

Take care
 
S

saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>pnut1975</b></i>

I would assume that they will test her once she is born with the sweat test to confirm. </end quote></div>

sweat tests give false negatives more often than genetic tests do. so i would push for another genetic test to confirm if anything... a sweat test won't do you much good.

we have many CFer's on this site who have a negative sweat test but have CF

I would recommend that you go to my blog (link below) and go to the Warwick section. Read an article about him and CF care from the New Yorker. It will really open your eyes....

<div class="FTQUOTE"><begin quote>
How do you find out if you are one of the 10% that would benefit?

</end quote></div>

Not sure if others responded to this, but if your child has 2 copies of DF508 then he or she is not a candidate for Ataluren.

Keep in mind this community has seen many drugs that had the potential to correct the defective gene come and go.

But focusing on 100% compliance and attending the best, most proactive CF center around will suffice until/ if we get more drugs to help this disease.

Take care
 
S

saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>pnut1975</b></i>

I would assume that they will test her once she is born with the sweat test to confirm. </end quote></div>

sweat tests give false negatives more often than genetic tests do. so i would push for another genetic test to confirm if anything... a sweat test won't do you much good.

we have many CFer's on this site who have a negative sweat test but have CF

I would recommend that you go to my blog (link below) and go to the Warwick section. Read an article about him and CF care from the New Yorker. It will really open your eyes....

<div class="FTQUOTE"><begin quote>
How do you find out if you are one of the 10% that would benefit?

</end quote></div>

Not sure if others responded to this, but if your child has 2 copies of DF508 then he or she is not a candidate for Ataluren.

Keep in mind this community has seen many drugs that had the potential to correct the defective gene come and go.

But focusing on 100% compliance and attending the best, most proactive CF center around will suffice until/ if we get more drugs to help this disease.

Take care
 
S

saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>pnut1975</b></i>

I would assume that they will test her once she is born with the sweat test to confirm. </end quote>

sweat tests give false negatives more often than genetic tests do. so i would push for another genetic test to confirm if anything... a sweat test won't do you much good.

we have many CFer's on this site who have a negative sweat test but have CF

I would recommend that you go to my blog (link below) and go to the Warwick section. Read an article about him and CF care from the New Yorker. It will really open your eyes....

<div class="FTQUOTE"><begin quote>
How do you find out if you are one of the 10% that would benefit?

</end quote>

Not sure if others responded to this, but if your child has 2 copies of DF508 then he or she is not a candidate for Ataluren.

Keep in mind this community has seen many drugs that had the potential to correct the defective gene come and go.

But focusing on 100% compliance and attending the best, most proactive CF center around will suffice until/ if we get more drugs to help this disease.

Take care
 
S

saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>pnut1975</b></i>
<br />
<br /> I would assume that they will test her once she is born with the sweat test to confirm. </end quote>
<br />
<br />sweat tests give false negatives more often than genetic tests do. so i would push for another genetic test to confirm if anything... a sweat test won't do you much good.
<br />
<br />we have many CFer's on this site who have a negative sweat test but have CF
<br />
<br />I would recommend that you go to my blog (link below) and go to the Warwick section. Read an article about him and CF care from the New Yorker. It will really open your eyes....
<br />
<br /><div class="FTQUOTE"><begin quote>
<br /> How do you find out if you are one of the 10% that would benefit?
<br />
<br /></end quote>
<br />
<br />Not sure if others responded to this, but if your child has 2 copies of DF508 then he or she is not a candidate for Ataluren.
<br />
<br />Keep in mind this community has seen many drugs that had the potential to correct the defective gene come and go.
<br />
<br />But focusing on 100% compliance and attending the best, most proactive CF center around will suffice until/ if we get more drugs to help this disease.
<br />
<br />Take care
 
S

saveferris2009

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://noexcusesnoexcuses.blogspot.com/search/label/Warwick
">http://noexcusesnoexcuses.blog.../search/label/Warwick
</a>
if you're having trouble finding the warwick section
 
S

saveferris2009

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://noexcusesnoexcuses.blogspot.com/search/label/Warwick
">http://noexcusesnoexcuses.blog.../search/label/Warwick
</a>
if you're having trouble finding the warwick section
 
S

saveferris2009

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://noexcusesnoexcuses.blogspot.com/search/label/Warwick
">http://noexcusesnoexcuses.blog.../search/label/Warwick
</a>
if you're having trouble finding the warwick section
 
S

saveferris2009

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://noexcusesnoexcuses.blogspot.com/search/label/Warwick
">http://noexcusesnoexcuses.blog.../search/label/Warwick
</a>
if you're having trouble finding the warwick section
 
S

saveferris2009

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://noexcusesnoexcuses.blogspot.com/search/label/Warwick
">http://noexcusesnoexcuses.blog.../search/label/Warwick
</a><br />
<br />if you're having trouble finding the warwick section
 
P

pnut1975

New member
Thank you all for the responses. We are in Springfield Mo. and the nearest care center is in Columbia, St. Louis, or Kansas City. They made contact with us yesterday and we are going to get started on educating ourselves. I am sure we will take a trip up before the baby is born and look it over. I am trying to soak up as much information as I can find and prepare for what hopefully is a speed bump in the life of my little girl. I guess at this point what we are in for really depends on the severity of symptoms. I was just reading about the CFTR modulation drugs in the testing phases and wanted some more information. I bet there have been a lot of hopes for a "magic" pill that have come and went.
 
P

pnut1975

New member
Thank you all for the responses. We are in Springfield Mo. and the nearest care center is in Columbia, St. Louis, or Kansas City. They made contact with us yesterday and we are going to get started on educating ourselves. I am sure we will take a trip up before the baby is born and look it over. I am trying to soak up as much information as I can find and prepare for what hopefully is a speed bump in the life of my little girl. I guess at this point what we are in for really depends on the severity of symptoms. I was just reading about the CFTR modulation drugs in the testing phases and wanted some more information. I bet there have been a lot of hopes for a "magic" pill that have come and went.
 
P

pnut1975

New member
Thank you all for the responses. We are in Springfield Mo. and the nearest care center is in Columbia, St. Louis, or Kansas City. They made contact with us yesterday and we are going to get started on educating ourselves. I am sure we will take a trip up before the baby is born and look it over. I am trying to soak up as much information as I can find and prepare for what hopefully is a speed bump in the life of my little girl. I guess at this point what we are in for really depends on the severity of symptoms. I was just reading about the CFTR modulation drugs in the testing phases and wanted some more information. I bet there have been a lot of hopes for a "magic" pill that have come and went.
 
P

pnut1975

New member
Thank you all for the responses. We are in Springfield Mo. and the nearest care center is in Columbia, St. Louis, or Kansas City. They made contact with us yesterday and we are going to get started on educating ourselves. I am sure we will take a trip up before the baby is born and look it over. I am trying to soak up as much information as I can find and prepare for what hopefully is a speed bump in the life of my little girl. I guess at this point what we are in for really depends on the severity of symptoms. I was just reading about the CFTR modulation drugs in the testing phases and wanted some more information. I bet there have been a lot of hopes for a "magic" pill that have come and went.
 
P

pnut1975

New member
Thank you all for the responses. We are in Springfield Mo. and the nearest care center is in Columbia, St. Louis, or Kansas City. They made contact with us yesterday and we are going to get started on educating ourselves. I am sure we will take a trip up before the baby is born and look it over. I am trying to soak up as much information as I can find and prepare for what hopefully is a speed bump in the life of my little girl. I guess at this point what we are in for really depends on the severity of symptoms. I was just reading about the CFTR modulation drugs in the testing phases and wanted some more information. I bet there have been a lot of hopes for a "magic" pill that have come and went.
 
R

Ratatosk

Administrator
Staff member
One thing to consider with the double deltaf508 mutation is that they SHOULD be monitoring your child for the possibility of a bowel obstruction caused by meconium illeus thru ultrasounds. Not to scare you, but your wife/child should be monitored in the event of this possibility that there is the need for surgery and availability of a high level NICU.

When DS was born we had no idea that there was even a possibility that he had cf, no family history, normal pregnancy. The next day he underwent surgery for a bowel obstruction. He had to be lifeflighted to the city because our local pediatric surgeon was on vacation.
 
R

Ratatosk

Administrator
Staff member
One thing to consider with the double deltaf508 mutation is that they SHOULD be monitoring your child for the possibility of a bowel obstruction caused by meconium illeus thru ultrasounds. Not to scare you, but your wife/child should be monitored in the event of this possibility that there is the need for surgery and availability of a high level NICU.

When DS was born we had no idea that there was even a possibility that he had cf, no family history, normal pregnancy. The next day he underwent surgery for a bowel obstruction. He had to be lifeflighted to the city because our local pediatric surgeon was on vacation.
 
R

Ratatosk

Administrator
Staff member
One thing to consider with the double deltaf508 mutation is that they SHOULD be monitoring your child for the possibility of a bowel obstruction caused by meconium illeus thru ultrasounds. Not to scare you, but your wife/child should be monitored in the event of this possibility that there is the need for surgery and availability of a high level NICU.

When DS was born we had no idea that there was even a possibility that he had cf, no family history, normal pregnancy. The next day he underwent surgery for a bowel obstruction. He had to be lifeflighted to the city because our local pediatric surgeon was on vacation.
 
R

Ratatosk

Administrator
Staff member
One thing to consider with the double deltaf508 mutation is that they SHOULD be monitoring your child for the possibility of a bowel obstruction caused by meconium illeus thru ultrasounds. Not to scare you, but your wife/child should be monitored in the event of this possibility that there is the need for surgery and availability of a high level NICU.

When DS was born we had no idea that there was even a possibility that he had cf, no family history, normal pregnancy. The next day he underwent surgery for a bowel obstruction. He had to be lifeflighted to the city because our local pediatric surgeon was on vacation.
 
R

Ratatosk

Administrator
Staff member
One thing to consider with the double deltaf508 mutation is that they SHOULD be monitoring your child for the possibility of a bowel obstruction caused by meconium illeus thru ultrasounds. Not to scare you, but your wife/child should be monitored in the event of this possibility that there is the need for surgery and availability of a high level NICU.
<br />
<br />When DS was born we had no idea that there was even a possibility that he had cf, no family history, normal pregnancy. The next day he underwent surgery for a bowel obstruction. He had to be lifeflighted to the city because our local pediatric surgeon was on vacation.
 
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