LOOKING FOR SOME ANSWERS

A

antonette1279

New member
Hello everyone. Well this is my story. My son is 3.5 months old. He has been sick for over 2 months. The symptoms he has are constant congestion, coughing, failure to thrive, and diarrhea. He eats a lot for a little guy but loses weight. They have tested him for just about everything. The only thing they have been able to tell us is that he has an absorption problem. Well then the doctors said they were 95 percent sure he had CF but that was just based on ruling out everything else and the symptoms that he has. My question is this...his newborn screen was negitive for CF or at least that is what they told me. Is it really still possible that he has it and if so how likely would it be for someone to have a neg. screen and yet actually have CF? We are currently waiting for the results of his blood test that they did. It is taking awhile because they had to ship it out to somewhere in either CA or NC. I would appriicate any thoughts on this. I am a nervous wreck and actually just would like to know what my son has. Thank you again!!
 
A

antonette1279

New member
Hello everyone. Well this is my story. My son is 3.5 months old. He has been sick for over 2 months. The symptoms he has are constant congestion, coughing, failure to thrive, and diarrhea. He eats a lot for a little guy but loses weight. They have tested him for just about everything. The only thing they have been able to tell us is that he has an absorption problem. Well then the doctors said they were 95 percent sure he had CF but that was just based on ruling out everything else and the symptoms that he has. My question is this...his newborn screen was negitive for CF or at least that is what they told me. Is it really still possible that he has it and if so how likely would it be for someone to have a neg. screen and yet actually have CF? We are currently waiting for the results of his blood test that they did. It is taking awhile because they had to ship it out to somewhere in either CA or NC. I would appriicate any thoughts on this. I am a nervous wreck and actually just would like to know what my son has. Thank you again!!
 
A

antonette1279

New member
Hello everyone. Well this is my story. My son is 3.5 months old. He has been sick for over 2 months. The symptoms he has are constant congestion, coughing, failure to thrive, and diarrhea. He eats a lot for a little guy but loses weight. They have tested him for just about everything. The only thing they have been able to tell us is that he has an absorption problem. Well then the doctors said they were 95 percent sure he had CF but that was just based on ruling out everything else and the symptoms that he has. My question is this...his newborn screen was negitive for CF or at least that is what they told me. Is it really still possible that he has it and if so how likely would it be for someone to have a neg. screen and yet actually have CF? We are currently waiting for the results of his blood test that they did. It is taking awhile because they had to ship it out to somewhere in either CA or NC. I would appriicate any thoughts on this. I am a nervous wreck and actually just would like to know what my son has. Thank you again!!
 
A

antonette1279

New member
Hello everyone. Well this is my story. My son is 3.5 months old. He has been sick for over 2 months. The symptoms he has are constant congestion, coughing, failure to thrive, and diarrhea. He eats a lot for a little guy but loses weight. They have tested him for just about everything. The only thing they have been able to tell us is that he has an absorption problem. Well then the doctors said they were 95 percent sure he had CF but that was just based on ruling out everything else and the symptoms that he has. My question is this...his newborn screen was negitive for CF or at least that is what they told me. Is it really still possible that he has it and if so how likely would it be for someone to have a neg. screen and yet actually have CF? We are currently waiting for the results of his blood test that they did. It is taking awhile because they had to ship it out to somewhere in either CA or NC. I would appriicate any thoughts on this. I am a nervous wreck and actually just would like to know what my son has. Thank you again!!
 
A

antonette1279

New member
Hello everyone. Well this is my story. My son is 3.5 months old. He has been sick for over 2 months. The symptoms he has are constant congestion, coughing, failure to thrive, and diarrhea. He eats a lot for a little guy but loses weight. They have tested him for just about everything. The only thing they have been able to tell us is that he has an absorption problem. Well then the doctors said they were 95 percent sure he had CF but that was just based on ruling out everything else and the symptoms that he has. My question is this...his newborn screen was negitive for CF or at least that is what they told me. Is it really still possible that he has it and if so how likely would it be for someone to have a neg. screen and yet actually have CF? We are currently waiting for the results of his blood test that they did. It is taking awhile because they had to ship it out to somewhere in either CA or NC. I would appriicate any thoughts on this. I am a nervous wreck and actually just would like to know what my son has. Thank you again!!
 
J

just1more

New member
First of all, I know you can't but take a deep breath. Waiting is the hardest part.

Second, welcome to the site. Hopefully you won't need to get to know us better, but if you do then welcome and you will find a great group of people here.

Now for your question: It is highly likely that the newborn screening can be wrong. Given what you describe and the Dr's comments, I would expect to see a CF diagnosis. The screening is just that a screening not a full-blown test, and it only screens for the most common mutations (there are over 1500 known genetic mutations that cause CF).

Lastly, please try to temper what you read online. There is a lot of good information, and a TON of old, obsolete and just plain wrong information. I would recommend going to cff.org and reading, browse this site and most importantly start asking questions. You are going to have more than you can imagine if you finally get an answer. You can't ask too many, and with knowledge comes the power to chart your future and that of your son.
 
J

just1more

New member
First of all, I know you can't but take a deep breath. Waiting is the hardest part.

Second, welcome to the site. Hopefully you won't need to get to know us better, but if you do then welcome and you will find a great group of people here.

Now for your question: It is highly likely that the newborn screening can be wrong. Given what you describe and the Dr's comments, I would expect to see a CF diagnosis. The screening is just that a screening not a full-blown test, and it only screens for the most common mutations (there are over 1500 known genetic mutations that cause CF).

Lastly, please try to temper what you read online. There is a lot of good information, and a TON of old, obsolete and just plain wrong information. I would recommend going to cff.org and reading, browse this site and most importantly start asking questions. You are going to have more than you can imagine if you finally get an answer. You can't ask too many, and with knowledge comes the power to chart your future and that of your son.
 
J

just1more

New member
First of all, I know you can't but take a deep breath. Waiting is the hardest part.

Second, welcome to the site. Hopefully you won't need to get to know us better, but if you do then welcome and you will find a great group of people here.

Now for your question: It is highly likely that the newborn screening can be wrong. Given what you describe and the Dr's comments, I would expect to see a CF diagnosis. The screening is just that a screening not a full-blown test, and it only screens for the most common mutations (there are over 1500 known genetic mutations that cause CF).

Lastly, please try to temper what you read online. There is a lot of good information, and a TON of old, obsolete and just plain wrong information. I would recommend going to cff.org and reading, browse this site and most importantly start asking questions. You are going to have more than you can imagine if you finally get an answer. You can't ask too many, and with knowledge comes the power to chart your future and that of your son.
 
J

just1more

New member
First of all, I know you can't but take a deep breath. Waiting is the hardest part.

Second, welcome to the site. Hopefully you won't need to get to know us better, but if you do then welcome and you will find a great group of people here.

Now for your question: It is highly likely that the newborn screening can be wrong. Given what you describe and the Dr's comments, I would expect to see a CF diagnosis. The screening is just that a screening not a full-blown test, and it only screens for the most common mutations (there are over 1500 known genetic mutations that cause CF).

Lastly, please try to temper what you read online. There is a lot of good information, and a TON of old, obsolete and just plain wrong information. I would recommend going to cff.org and reading, browse this site and most importantly start asking questions. You are going to have more than you can imagine if you finally get an answer. You can't ask too many, and with knowledge comes the power to chart your future and that of your son.
 
J

just1more

New member
First of all, I know you can't but take a deep breath. Waiting is the hardest part.
<br />
<br />Second, welcome to the site. Hopefully you won't need to get to know us better, but if you do then welcome and you will find a great group of people here.
<br />
<br />Now for your question: It is highly likely that the newborn screening can be wrong. Given what you describe and the Dr's comments, I would expect to see a CF diagnosis. The screening is just that a screening not a full-blown test, and it only screens for the most common mutations (there are over 1500 known genetic mutations that cause CF).
<br />
<br />Lastly, please try to temper what you read online. There is a lot of good information, and a TON of old, obsolete and just plain wrong information. I would recommend going to cff.org and reading, browse this site and most importantly start asking questions. You are going to have more than you can imagine if you finally get an answer. You can't ask too many, and with knowledge comes the power to chart your future and that of your son.
 
A

antonette1279

New member
Thank you for your response...wow do I see that right? 8 kids!! Wow and I thought our 6 was alot lol. I am really stressed out over all this but I just want the results. I think once I know one way or another then it will be a little easier cause I will know what we have to deal with. Thank you very much again
 
A

antonette1279

New member
Thank you for your response...wow do I see that right? 8 kids!! Wow and I thought our 6 was alot lol. I am really stressed out over all this but I just want the results. I think once I know one way or another then it will be a little easier cause I will know what we have to deal with. Thank you very much again
 
A

antonette1279

New member
Thank you for your response...wow do I see that right? 8 kids!! Wow and I thought our 6 was alot lol. I am really stressed out over all this but I just want the results. I think once I know one way or another then it will be a little easier cause I will know what we have to deal with. Thank you very much again
 
A

antonette1279

New member
Thank you for your response...wow do I see that right? 8 kids!! Wow and I thought our 6 was alot lol. I am really stressed out over all this but I just want the results. I think once I know one way or another then it will be a little easier cause I will know what we have to deal with. Thank you very much again
 
A

antonette1279

New member
Thank you for your response...wow do I see that right? 8 kids!! Wow and I thought our 6 was alot lol. I am really stressed out over all this but I just want the results. I think once I know one way or another then it will be a little easier cause I will know what we have to deal with. Thank you very much again
 
M

Mommy2Zeke

Guest
Hi Antonette... I was where you are at exactly this time last year. My son was born on 3-9-09 with meconium ileus, which was pretty much a given that my child had CF, but there was still some question since I'd been on a lot of medication with unknown side effects during my pregnancy. We waited for the newborn screen to come back- and it did come back positive, when he was 2 weeks old. He had the most common mutation of CF.

I'm sorry the answer hasn't been as easy for you to find, but I would suggest going to a geneticist and asking that a more extensive test be run to find out if your child has some of the rarer mutations. The other option would be to try a sweat test when he gets to the proper age, but even then you can have varied and inconclusive results sometimes.

I am so sorry your little guy has been so sick. I hope they are able to treat him appropriately. Do you know if your child is being treated by a Dr. with a specialty in CF? If not, then I would request a consultation with your local CF doctor and see what he/she says.
 
M

Mommy2Zeke

Guest
Hi Antonette... I was where you are at exactly this time last year. My son was born on 3-9-09 with meconium ileus, which was pretty much a given that my child had CF, but there was still some question since I'd been on a lot of medication with unknown side effects during my pregnancy. We waited for the newborn screen to come back- and it did come back positive, when he was 2 weeks old. He had the most common mutation of CF.

I'm sorry the answer hasn't been as easy for you to find, but I would suggest going to a geneticist and asking that a more extensive test be run to find out if your child has some of the rarer mutations. The other option would be to try a sweat test when he gets to the proper age, but even then you can have varied and inconclusive results sometimes.

I am so sorry your little guy has been so sick. I hope they are able to treat him appropriately. Do you know if your child is being treated by a Dr. with a specialty in CF? If not, then I would request a consultation with your local CF doctor and see what he/she says.
 
M

Mommy2Zeke

Guest
Hi Antonette... I was where you are at exactly this time last year. My son was born on 3-9-09 with meconium ileus, which was pretty much a given that my child had CF, but there was still some question since I'd been on a lot of medication with unknown side effects during my pregnancy. We waited for the newborn screen to come back- and it did come back positive, when he was 2 weeks old. He had the most common mutation of CF.

I'm sorry the answer hasn't been as easy for you to find, but I would suggest going to a geneticist and asking that a more extensive test be run to find out if your child has some of the rarer mutations. The other option would be to try a sweat test when he gets to the proper age, but even then you can have varied and inconclusive results sometimes.

I am so sorry your little guy has been so sick. I hope they are able to treat him appropriately. Do you know if your child is being treated by a Dr. with a specialty in CF? If not, then I would request a consultation with your local CF doctor and see what he/she says.
 
M

Mommy2Zeke

Guest
Hi Antonette... I was where you are at exactly this time last year. My son was born on 3-9-09 with meconium ileus, which was pretty much a given that my child had CF, but there was still some question since I'd been on a lot of medication with unknown side effects during my pregnancy. We waited for the newborn screen to come back- and it did come back positive, when he was 2 weeks old. He had the most common mutation of CF.

I'm sorry the answer hasn't been as easy for you to find, but I would suggest going to a geneticist and asking that a more extensive test be run to find out if your child has some of the rarer mutations. The other option would be to try a sweat test when he gets to the proper age, but even then you can have varied and inconclusive results sometimes.

I am so sorry your little guy has been so sick. I hope they are able to treat him appropriately. Do you know if your child is being treated by a Dr. with a specialty in CF? If not, then I would request a consultation with your local CF doctor and see what he/she says.
 
M

Mommy2Zeke

Guest
Hi Antonette... I was where you are at exactly this time last year. My son was born on 3-9-09 with meconium ileus, which was pretty much a given that my child had CF, but there was still some question since I'd been on a lot of medication with unknown side effects during my pregnancy. We waited for the newborn screen to come back- and it did come back positive, when he was 2 weeks old. He had the most common mutation of CF.
<br />
<br />I'm sorry the answer hasn't been as easy for you to find, but I would suggest going to a geneticist and asking that a more extensive test be run to find out if your child has some of the rarer mutations. The other option would be to try a sweat test when he gets to the proper age, but even then you can have varied and inconclusive results sometimes.
<br />
<br />I am so sorry your little guy has been so sick. I hope they are able to treat him appropriately. Do you know if your child is being treated by a Dr. with a specialty in CF? If not, then I would request a consultation with your local CF doctor and see what he/she says.
 
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