looking for answers?

kalsinsmom · Sep 20, 2007

Ok, I am looking for help here...I have a 2 month old son that was hospitalised at 1 month with pneumonia for 4 days. Then this month, he was readmitted for pneumonia again, along with MRSA. This time it was for 10 days, and the pneumonia still hasnt cleared.
My question is, if someone can help answer it for me...they decided to test Sam for CF just for the heck of it since they can't figure out why the pneumonia isn't clearing up. ( they said he shouldn't be getting so sick since i am breast feeding)

So, they did a check swab and now today the doctor called and said it was inconclusive?? She said it tests 2 genetic markers and one was positive for him being a carrier (We had no idea either of us were carriers) but that the other was inconclusive? From what I have read up in the last few days, I thought the test of the cells from the check would give you a definate answer?? I AM SO CONFUSED!? So now she said that they have to do a more definative genetic test?

He was born at 38 weeks, weight was 4 lbs 15 oz. He is now 10 1/2 lbs, fat as can be! Besides the pneumonia 2 times, he has reflux, and what seems like a cronic sinus thing
( I have asked the doctor about it, but they only say it must be related to his reflux?)
Any help or advise would be a tremendous help!!

Heidi
mom to 4 boys
Lucas 14, Kalsin 4, Sam 2 months and one son Jesse, deceased.
( 2 of my sons were born with congenital diaphragmatic hernia's--one died at 26 days and one is now 4 yrs old)

kalsinsmom · Sep 20, 2007

Ok, I am looking for help here...I have a 2 month old son that was hospitalised at 1 month with pneumonia for 4 days. Then this month, he was readmitted for pneumonia again, along with MRSA. This time it was for 10 days, and the pneumonia still hasnt cleared.
My question is, if someone can help answer it for me...they decided to test Sam for CF just for the heck of it since they can't figure out why the pneumonia isn't clearing up. ( they said he shouldn't be getting so sick since i am breast feeding)

So, they did a check swab and now today the doctor called and said it was inconclusive?? She said it tests 2 genetic markers and one was positive for him being a carrier (We had no idea either of us were carriers) but that the other was inconclusive? From what I have read up in the last few days, I thought the test of the cells from the check would give you a definate answer?? I AM SO CONFUSED!? So now she said that they have to do a more definative genetic test?

He was born at 38 weeks, weight was 4 lbs 15 oz. He is now 10 1/2 lbs, fat as can be! Besides the pneumonia 2 times, he has reflux, and what seems like a cronic sinus thing
( I have asked the doctor about it, but they only say it must be related to his reflux?)
Any help or advise would be a tremendous help!!

Heidi
mom to 4 boys
Lucas 14, Kalsin 4, Sam 2 months and one son Jesse, deceased.
( 2 of my sons were born with congenital diaphragmatic hernia's--one died at 26 days and one is now 4 yrs old)

kalsinsmom · Sep 20, 2007

Ok, I am looking for help here...I have a 2 month old son that was hospitalised at 1 month with pneumonia for 4 days. Then this month, he was readmitted for pneumonia again, along with MRSA. This time it was for 10 days, and the pneumonia still hasnt cleared.
My question is, if someone can help answer it for me...they decided to test Sam for CF just for the heck of it since they can't figure out why the pneumonia isn't clearing up. ( they said he shouldn't be getting so sick since i am breast feeding)

So, they did a check swab and now today the doctor called and said it was inconclusive?? She said it tests 2 genetic markers and one was positive for him being a carrier (We had no idea either of us were carriers) but that the other was inconclusive? From what I have read up in the last few days, I thought the test of the cells from the check would give you a definate answer?? I AM SO CONFUSED!? So now she said that they have to do a more definative genetic test?

He was born at 38 weeks, weight was 4 lbs 15 oz. He is now 10 1/2 lbs, fat as can be! Besides the pneumonia 2 times, he has reflux, and what seems like a cronic sinus thing
( I have asked the doctor about it, but they only say it must be related to his reflux?)
Any help or advise would be a tremendous help!!

Heidi
mom to 4 boys
Lucas 14, Kalsin 4, Sam 2 months and one son Jesse, deceased.
( 2 of my sons were born with congenital diaphragmatic hernia's--one died at 26 days and one is now 4 yrs old)

kalsinsmom · Sep 20, 2007

Ok, I am looking for help here...I have a 2 month old son that was hospitalised at 1 month with pneumonia for 4 days. Then this month, he was readmitted for pneumonia again, along with MRSA. This time it was for 10 days, and the pneumonia still hasnt cleared.
My question is, if someone can help answer it for me...they decided to test Sam for CF just for the heck of it since they can't figure out why the pneumonia isn't clearing up. ( they said he shouldn't be getting so sick since i am breast feeding)

So, they did a check swab and now today the doctor called and said it was inconclusive?? She said it tests 2 genetic markers and one was positive for him being a carrier (We had no idea either of us were carriers) but that the other was inconclusive? From what I have read up in the last few days, I thought the test of the cells from the check would give you a definate answer?? I AM SO CONFUSED!? So now she said that they have to do a more definative genetic test?

He was born at 38 weeks, weight was 4 lbs 15 oz. He is now 10 1/2 lbs, fat as can be! Besides the pneumonia 2 times, he has reflux, and what seems like a cronic sinus thing
( I have asked the doctor about it, but they only say it must be related to his reflux?)
Any help or advise would be a tremendous help!!

Heidi
mom to 4 boys
Lucas 14, Kalsin 4, Sam 2 months and one son Jesse, deceased.
( 2 of my sons were born with congenital diaphragmatic hernia's--one died at 26 days and one is now 4 yrs old)

kalsinsmom · Sep 20, 2007

Ok, I am looking for help here...I have a 2 month old son that was hospitalised at 1 month with pneumonia for 4 days. Then this month, he was readmitted for pneumonia again, along with MRSA. This time it was for 10 days, and the pneumonia still hasnt cleared.
My question is, if someone can help answer it for me...they decided to test Sam for CF just for the heck of it since they can't figure out why the pneumonia isn't clearing up. ( they said he shouldn't be getting so sick since i am breast feeding)

So, they did a check swab and now today the doctor called and said it was inconclusive?? She said it tests 2 genetic markers and one was positive for him being a carrier (We had no idea either of us were carriers) but that the other was inconclusive? From what I have read up in the last few days, I thought the test of the cells from the check would give you a definate answer?? I AM SO CONFUSED!? So now she said that they have to do a more definative genetic test?

He was born at 38 weeks, weight was 4 lbs 15 oz. He is now 10 1/2 lbs, fat as can be! Besides the pneumonia 2 times, he has reflux, and what seems like a cronic sinus thing
( I have asked the doctor about it, but they only say it must be related to his reflux?)
Any help or advise would be a tremendous help!!

Heidi
mom to 4 boys
Lucas 14, Kalsin 4, Sam 2 months and one son Jesse, deceased.
( 2 of my sons were born with congenital diaphragmatic hernia's--one died at 26 days and one is now 4 yrs old)

JORDYSMOM · Sep 20, 2007

Hello Heidi. It sounds like your docs are on top of things. On this site, we so often see people who can't get their docs to run the tests for CF. That is a big plus for you and your child.

The genetic test they are talking about is most likely a blood draw that they will send to a genetic testing lab like Ambry Genetics. It will test for certain gene mutations that are know to cause CF. Hopefully they will do what is called the Ambry Amplified test, which tests for all of the know genes. There are over 1500 of them. A lot of times insurance companies won't pay for the amplified test until other less expensive gene tests have been done, so you may need to fight with them over that.

My son wasn't dx until he was 15. He had a lot of the same symptoms you are describing, and we were told it was allergies and asthma. None of our docs ever suggested testing for CF because his weight wasn't a problem. Now, he does have a little trouble gaining weight. It is a progressive disease. There was no CF in our family before my son, and I've met a lot of people who say the same thing.

I know you are confused; I certainly was. This site has given me so much information and a much better understanding of things. Here I get info that comes from real people who live this disease on a daily basis. I find it very valuable. I hope your son doesn't have CF, but know that with a dx, you can begin the proper treatments. That made a huge difference for my son. He is healthier now than he's ever been. Hang in there, and feel free to ask all of the questions you need to. Welcome to the site.

Stacey

JORDYSMOM · Sep 20, 2007

Hello Heidi. It sounds like your docs are on top of things. On this site, we so often see people who can't get their docs to run the tests for CF. That is a big plus for you and your child.

The genetic test they are talking about is most likely a blood draw that they will send to a genetic testing lab like Ambry Genetics. It will test for certain gene mutations that are know to cause CF. Hopefully they will do what is called the Ambry Amplified test, which tests for all of the know genes. There are over 1500 of them. A lot of times insurance companies won't pay for the amplified test until other less expensive gene tests have been done, so you may need to fight with them over that.

My son wasn't dx until he was 15. He had a lot of the same symptoms you are describing, and we were told it was allergies and asthma. None of our docs ever suggested testing for CF because his weight wasn't a problem. Now, he does have a little trouble gaining weight. It is a progressive disease. There was no CF in our family before my son, and I've met a lot of people who say the same thing.

I know you are confused; I certainly was. This site has given me so much information and a much better understanding of things. Here I get info that comes from real people who live this disease on a daily basis. I find it very valuable. I hope your son doesn't have CF, but know that with a dx, you can begin the proper treatments. That made a huge difference for my son. He is healthier now than he's ever been. Hang in there, and feel free to ask all of the questions you need to. Welcome to the site.

Stacey

JORDYSMOM · Sep 20, 2007

Hello Heidi. It sounds like your docs are on top of things. On this site, we so often see people who can't get their docs to run the tests for CF. That is a big plus for you and your child.

The genetic test they are talking about is most likely a blood draw that they will send to a genetic testing lab like Ambry Genetics. It will test for certain gene mutations that are know to cause CF. Hopefully they will do what is called the Ambry Amplified test, which tests for all of the know genes. There are over 1500 of them. A lot of times insurance companies won't pay for the amplified test until other less expensive gene tests have been done, so you may need to fight with them over that.

My son wasn't dx until he was 15. He had a lot of the same symptoms you are describing, and we were told it was allergies and asthma. None of our docs ever suggested testing for CF because his weight wasn't a problem. Now, he does have a little trouble gaining weight. It is a progressive disease. There was no CF in our family before my son, and I've met a lot of people who say the same thing.

I know you are confused; I certainly was. This site has given me so much information and a much better understanding of things. Here I get info that comes from real people who live this disease on a daily basis. I find it very valuable. I hope your son doesn't have CF, but know that with a dx, you can begin the proper treatments. That made a huge difference for my son. He is healthier now than he's ever been. Hang in there, and feel free to ask all of the questions you need to. Welcome to the site.

Stacey

JORDYSMOM · Sep 20, 2007

Hello Heidi. It sounds like your docs are on top of things. On this site, we so often see people who can't get their docs to run the tests for CF. That is a big plus for you and your child.

The genetic test they are talking about is most likely a blood draw that they will send to a genetic testing lab like Ambry Genetics. It will test for certain gene mutations that are know to cause CF. Hopefully they will do what is called the Ambry Amplified test, which tests for all of the know genes. There are over 1500 of them. A lot of times insurance companies won't pay for the amplified test until other less expensive gene tests have been done, so you may need to fight with them over that.

My son wasn't dx until he was 15. He had a lot of the same symptoms you are describing, and we were told it was allergies and asthma. None of our docs ever suggested testing for CF because his weight wasn't a problem. Now, he does have a little trouble gaining weight. It is a progressive disease. There was no CF in our family before my son, and I've met a lot of people who say the same thing.

I know you are confused; I certainly was. This site has given me so much information and a much better understanding of things. Here I get info that comes from real people who live this disease on a daily basis. I find it very valuable. I hope your son doesn't have CF, but know that with a dx, you can begin the proper treatments. That made a huge difference for my son. He is healthier now than he's ever been. Hang in there, and feel free to ask all of the questions you need to. Welcome to the site.

Stacey

JORDYSMOM · Sep 20, 2007

Hello Heidi. It sounds like your docs are on top of things. On this site, we so often see people who can't get their docs to run the tests for CF. That is a big plus for you and your child.

The genetic test they are talking about is most likely a blood draw that they will send to a genetic testing lab like Ambry Genetics. It will test for certain gene mutations that are know to cause CF. Hopefully they will do what is called the Ambry Amplified test, which tests for all of the know genes. There are over 1500 of them. A lot of times insurance companies won't pay for the amplified test until other less expensive gene tests have been done, so you may need to fight with them over that.

My son wasn't dx until he was 15. He had a lot of the same symptoms you are describing, and we were told it was allergies and asthma. None of our docs ever suggested testing for CF because his weight wasn't a problem. Now, he does have a little trouble gaining weight. It is a progressive disease. There was no CF in our family before my son, and I've met a lot of people who say the same thing.

I know you are confused; I certainly was. This site has given me so much information and a much better understanding of things. Here I get info that comes from real people who live this disease on a daily basis. I find it very valuable. I hope your son doesn't have CF, but know that with a dx, you can begin the proper treatments. That made a huge difference for my son. He is healthier now than he's ever been. Hang in there, and feel free to ask all of the questions you need to. Welcome to the site.

Stacey

tammykrumrey · Sep 20, 2007

Heidi,

I am glad that your doctors are on top of it, like Stacey said. It is possible that your son still has CF. Or he may not...

With my second daughter, I was at first told she was only a carrier, because they only found on mutation (tested at birth by her pediatrican because my older daughter has CF). I took her to the CF clinic when she was 1 month old, and she was sweat tested and the more extensive genetic test was completed. The sweat test was positive, at 120. And the genetic test came back showing a second mutation that was not tested for the first time. Had I known more back then, I would had requested a more extensive testing the first time around...I just didn't know what mutations my older daughter had, and at the time didn't realize I should even know this information.

I hope you get the answers you need soon, for at least peace of mind if anything. Please keep us updated.

tammykrumrey · Sep 20, 2007

Heidi,

I am glad that your doctors are on top of it, like Stacey said. It is possible that your son still has CF. Or he may not...

With my second daughter, I was at first told she was only a carrier, because they only found on mutation (tested at birth by her pediatrican because my older daughter has CF). I took her to the CF clinic when she was 1 month old, and she was sweat tested and the more extensive genetic test was completed. The sweat test was positive, at 120. And the genetic test came back showing a second mutation that was not tested for the first time. Had I known more back then, I would had requested a more extensive testing the first time around...I just didn't know what mutations my older daughter had, and at the time didn't realize I should even know this information.

I hope you get the answers you need soon, for at least peace of mind if anything. Please keep us updated.

tammykrumrey · Sep 20, 2007

Heidi,

I am glad that your doctors are on top of it, like Stacey said. It is possible that your son still has CF. Or he may not...

With my second daughter, I was at first told she was only a carrier, because they only found on mutation (tested at birth by her pediatrican because my older daughter has CF). I took her to the CF clinic when she was 1 month old, and she was sweat tested and the more extensive genetic test was completed. The sweat test was positive, at 120. And the genetic test came back showing a second mutation that was not tested for the first time. Had I known more back then, I would had requested a more extensive testing the first time around...I just didn't know what mutations my older daughter had, and at the time didn't realize I should even know this information.

I hope you get the answers you need soon, for at least peace of mind if anything. Please keep us updated.

tammykrumrey · Sep 20, 2007

Heidi,

I am glad that your doctors are on top of it, like Stacey said. It is possible that your son still has CF. Or he may not...

With my second daughter, I was at first told she was only a carrier, because they only found on mutation (tested at birth by her pediatrican because my older daughter has CF). I took her to the CF clinic when she was 1 month old, and she was sweat tested and the more extensive genetic test was completed. The sweat test was positive, at 120. And the genetic test came back showing a second mutation that was not tested for the first time. Had I known more back then, I would had requested a more extensive testing the first time around...I just didn't know what mutations my older daughter had, and at the time didn't realize I should even know this information.

I hope you get the answers you need soon, for at least peace of mind if anything. Please keep us updated.

tammykrumrey · Sep 20, 2007

Heidi,

I am glad that your doctors are on top of it, like Stacey said. It is possible that your son still has CF. Or he may not...

With my second daughter, I was at first told she was only a carrier, because they only found on mutation (tested at birth by her pediatrican because my older daughter has CF). I took her to the CF clinic when she was 1 month old, and she was sweat tested and the more extensive genetic test was completed. The sweat test was positive, at 120. And the genetic test came back showing a second mutation that was not tested for the first time. Had I known more back then, I would had requested a more extensive testing the first time around...I just didn't know what mutations my older daughter had, and at the time didn't realize I should even know this information.

I hope you get the answers you need soon, for at least peace of mind if anything. Please keep us updated.

blkmsmommy · Sep 20, 2007