Postitive Newborn Screen & Two Mutations

[Ratatosk]

<div>This weekend at Great Strides, I met a person whose child was diagnosed via newborn screening, has two mutations.  Started off at our local cf clinic, but moved to a highly ranked clinic in the City. </div>
<div>Her child has had pneumonia several times, loose stools,--- never had a solid normal stool,  mucus plugs, has cultured psuedo, nasty snotty nose...  But was frustrated because the doctor at the most recent clinic indicated the one mutation cancels out the delta f508 and therefore they won't treat.  As for the symptoms they are supposedly considered to be within normal parameters.</div>
<div>She's frustrated and is apparently now looking at checking out yet another clinic in a different state.  Some of the other people at the walk whose children go to the highly ranked clinic couldn't believe the way she was being treated (or how her child wasn't).  I mentioned another parent I'd met whose child has yet to be diagnosed who had a similar experience.  What the HECK is going on when a child with obvious symptoms gets this type of treatment at the CF clinic?</div>

 

[Ratatosk]

This weekend at Great Strides, Imet a person whose child was diagnosed via newborn screening, has two mutations. Started off at our local cf clinic, but moved to a highly ranked clinic in the City.
Her child has had pneumonia several times, loose stools,--- never had a solid normal stool, mucus plugs, has cultured psuedo, nasty snotty nose... But was frustrated because the doctor at the most recent clinic indicated the one mutation cancels out the delta f508 and therefore they won't treat. As for the symptoms they are supposedly considered to be within normal parameters.
She's frustrated and is apparently now looking at checking out yet another clinic in a different state. Some of the other people at the walk whose children go to the highly ranked clinic couldn't believe the way she was being treated (or how her child wasn't). I mentioned another parentI'd metwhose child has yet to be diagnosed who had a similar experience. What the HECK is going on when a child with obvious symptoms gets this type of treatment at the CF clinic?

 

[Ratatosk]

This weekend at Great Strides, Imet a person whose child was diagnosed via newborn screening, has two mutations. Started off at our local cf clinic, but moved to a highly ranked clinic in the City.
Her child has had pneumonia several times, loose stools,--- never had a solid normal stool, mucus plugs, has cultured psuedo, nasty snotty nose... But was frustrated because the doctor at the most recent clinic indicated the one mutation cancels out the delta f508 and therefore they won't treat. As for the symptoms they are supposedly considered to be within normal parameters.
She's frustrated and is apparently now looking at checking out yet another clinic in a different state. Some of the other people at the walk whose children go to the highly ranked clinic couldn't believe the way she was being treated (or how her child wasn't). I mentioned another parentI'd metwhose child has yet to be diagnosed who had a similar experience. What the HECK is going on when a child with obvious symptoms gets this type of treatment at the CF clinic?

 

[Mommafirst]

I have to say that it troubles me to think that finding the genetic makeup for CF is actually HURTING some patients to get treated.   Before they knew the genetics, they wouldn't have hesitated to treat this child....but now that they *think* they know which genes are disease causing and which aren't, they rule out the disease without looking at the big picture....that is so upsetting.

 

[Mommafirst]

I have to say that it troubles me to think that finding the genetic makeup for CF is actually HURTING some patients to get treated. Before they knew the genetics, they wouldn't have hesitated to treat this child....but now that they *think* they know which genes are disease causing and which aren't, they rule out the disease without looking at the big picture....that is so upsetting.

 

[Mommafirst]

<p>I have to say that it troubles me to think that finding the genetic makeup for CF is actually HURTING some patients to get treated. Before they knew the genetics, they wouldn't have hesitated to treat this child....but now that they *think* they know which genes are disease causing and which aren't, they rule out the disease without looking at the big picture....that is so upsetting.

 

[hmw]

That is ridiculous. <img src="i/expressions/face-icon-small-mad.gif" border="0">

The whole way to determine whether or not a mutation is disease causing, in my understanding, when they discover new ones of 'unknown significance' or see these extremely rare ones or whatever- is by the presentation of those who have them. And if a child is SYMPTOMATIC (positive newborn screen and every symptom under the sun consistent with CF, esp culturing PA?!) wouldn't that indicate that the mutation is indeed disease-causing...?!? How can drs in good conscience deny treatment when the evidence is right in front of them? CF is about treating the big picture. Argh.

 

[hmw]

That is ridiculous. <img src="i/expressions/face-icon-small-mad.gif" border="0">

The whole way to determine whether or not a mutation is disease causing, in my understanding, when they discover new ones of 'unknown significance' or see these extremely rare ones or whatever- is by the presentation of those who have them. And if a child is SYMPTOMATIC (positive newborn screen and every symptom under the sun consistent with CF, esp culturing PA?!) wouldn't that indicate that the mutation is indeed disease-causing...?!? How can drs in good conscience deny treatment when the evidence is right in front of them? CF is about treating the big picture. Argh.

 

[hmw]

That is ridiculous. <img src="i/expressions/face-icon-small-mad.gif" border="0">
<br />
<br />The whole way to determine whether or not a mutation is disease causing, in my understanding, when they discover new ones of 'unknown significance' or see these extremely rare ones or whatever- is by the presentation of those who have them. And if a child is SYMPTOMATIC (positive newborn screen and every symptom under the sun consistent with CF, esp culturing PA?!) wouldn't that indicate that the mutation is indeed disease-causing...?!? How can drs in good conscience deny treatment when the evidence is right in front of them? CF is about treating the big picture. Argh.

 

[hmw]

Maybe we are better off not knowing Emily's 2nd mutation at all than dealing with something like this...!!!!

 

[hmw]

Maybe we are better off not knowing Emily's 2nd mutation at all than dealing with something like this...!!!!

 

[hmw]

Maybe we are better off not knowing Emily's 2nd mutation at all than dealing with something like this...!!!!

 

[Ratatosk]

I encouraged the mom to check out this site to see if anyone else has suggestions for her on how to demand treatment for her child. The mom's who go to the clinic in the City were trying to figure out which doctor she was dealing with and were going to visit with some of the staff there.

 

[Ratatosk]

I encouraged the mom to check out this site to see if anyone else has suggestions for her on how to demand treatment for her child. The mom's who go to the clinic in the City were trying to figure out which doctor she was dealing with and were going to visit with some of the staff there.

 

[Ratatosk]

I encouraged the mom to check out this site to see if anyone else has suggestions for her on how to demand treatment for her child. The mom's who go to the clinic in the City were trying to figure out which doctor she was dealing with and were going to visit with some of the staff there.

 

[mom2owen]

<img src="i/expressions/face-icon-small-shocked.gif" border="0">
Do I know this clinic??? Sure sounds familiar. I will PM you Liza, I have some questions and thoughts!
<div class="FTQUOTE"><begin quote>Before they knew the genetics, they wouldn't have hesitated to treat this child....but now that they *think* they know which genes are disease causing and which aren't, they rule out the disease without looking at the big picture....that is so upsetting.</end quote></div>
I totally agree with this statement. Everyone we have talked to who deals with CF and knows their mutations has said this many times before. It kind of feels like gene testing has hurt some people because now doctors rely on lab results, not symptoms. If they admitted there is a lot they don't know about genes and environment and were still willing to treat children with symptoms, that would be one thing. But, even with kids whose symptoms all add up, it is causing great turmoil. We have  been told over and over again that the variants and polymorphisms are none disease causing and no one has been willing to say that perhaps the combination of gene changes with the plethora of symptoms should cause people to wonder if what they thought they knew might need to be researched more. And to think that even kids with known mutations are not CF is just maddening. Sitting in an office with a kids who coughs a ton, is on Creon, now has been told he has sinusitis/rhinitis, is failure to thrive, etc. but they cannot tell us what could cause it all is totally crazy making. At our last appointment, we were even told that studies have been done that show the average kid coughs up to twelve times a day so coughing is normal! Aye, I could go on and on. 
I hate to sound hysterical, but, the bottom line is that *all* kids with symptoms of CF should be treated and I do not know how these doctors sleep at night knowing they are hindering preventative care for children! Someone needs to stop this madness and get things back on track, but who? And how? I hope time will work in all of our favor.

 

[mom2owen]

<img src="i/expressions/face-icon-small-shocked.gif" border="0">
Do I know this clinic??? Sure sounds familiar. I will PM you Liza, I have some questions and thoughts!
<div class="FTQUOTE"><begin quote>Before they knew the genetics, they wouldn't have hesitated to treat this child....but now that they *think* they know which genes are disease causing and which aren't, they rule out the disease without looking at the big picture....that is so upsetting.</end quote>
I totally agree with this statement. Everyone we have talked to who deals with CF and knows their mutations has said this many times before. It kind of feels like gene testing has hurt some people because now doctors rely on lab results, not symptoms. If they admitted there is a lot they don't know about genes and environment and were still willing to treat children with symptoms, that would be one thing. But, even with kids whose symptoms all add up, it is causing great turmoil. We have been told over and over again that the variants and polymorphisms are none disease causing and no one has been willing to say that perhaps the combination of gene changes with the plethora of symptoms should cause people to wonder if what they thought they knew might need to be researched more. And to think that even kids with known mutations are not CF is just maddening. Sitting in an office with a kids who coughs a ton, is on Creon, now has been told he has sinusitis/rhinitis, is failure to thrive, etc. but they cannot tell us what could cause it all is totally crazy making. At our last appointment, we were even told that studies have been done that show the average kid coughs up to twelve times a day so coughing is normal! Aye, I could go on and on.
I hate to sound hysterical, but, the bottom line is that *all* kids with symptoms of CF should be treated and I do not know how these doctors sleep at night knowing they are hindering preventative care for children! Someone needs to stop this madness and get things back on track, but who? And how? I hope time will work in all of our favor.

 

[mom2owen]

<p><img src="i/expressions/face-icon-small-shocked.gif" border="0">
<p>Do I know this clinic??? Sure sounds familiar. I will PM you Liza, I have some questions and thoughts!
<p><div class="FTQUOTE"><begin quote>Before they knew the genetics, they wouldn't have hesitated to treat this child....but now that they *think* they know which genes are disease causing and which aren't, they rule out the disease without looking at the big picture....that is so upsetting.</end quote>
<p>I totally agree with this statement. Everyone we have talked to who deals with CF and knows their mutations has said this many times before. It kind of feels like gene testing has hurt some people because now doctors rely on lab results, not symptoms. If they admitted there is a lot they don't know about genes and environment and were still willing to treat children with symptoms, that would be one thing. But, even with kids whose symptoms all add up, it is causing great turmoil. We have been told over and over again that the variants and polymorphisms are none disease causing and no one has been willing to say that perhaps the combination of gene changes with the plethora of symptoms should cause people to wonder if what they thought they knew might need to be researched more. And to think that even kids with known mutations are not CF is just maddening. Sitting in an office with a kids who coughs a ton, is on Creon, now has been told he has sinusitis/rhinitis, is failure to thrive, etc. but they cannot tell us what could cause it all is totally crazy making. At our last appointment, we were even told that studies have been done that show the average kid coughs up to twelve times a day so coughing is normal! Aye, I could go on and on.
<p>I hate to sound hysterical, but, the bottom line is that *all* kids with symptoms of CF should be treated and I do not know how these doctors sleep at night knowing they are hindering preventative care for children! Someone needs to stop this madness and get things back on track, but who? And how? I hope time will work in all of our favor.

 

[JennyCoulon]

I would say they definately need to look into getting another opinion. We all know that being diagnosed early and starting treatments right away help our children in the long run. I would say she should maybe even do some research online to see if she can find any information to back up what the dr.'s are saying. I hope she decides to get another opinion so her child has the best future as possible.

 

[JennyCoulon]

I would say they definately need to look into getting another opinion. We all know that being diagnosed early and starting treatments right away help our children in the long run. I would say she should maybe even do some research online to see if she can find any information to back up what the dr.'s are saying. I hope she decides to get another opinion so her child has the best future as possible.