Possible CF - Need Help

M

Mommafirst

Guest
Hi Barbara,

My daughter had borderline (53 and 45) sweat tests and was born with a meconium plug (not meconium illeus). Those two coupled together made our CF doc "suspicious" and we eventually had the full sequencing, deletions & duplications (Ambry Amplified) mutation test. It revealed two CF genes and she was diagnosed.

In my experiences here, an elevated sweat and symptoms seems to be a very good reason to test with the big guns. If that reveals nothing you will haved ruled out CF. Its a good thing!!! <img src="i/expressions/face-icon-small-smile.gif" border="0"> But from what I have read there is a disease called Schwachman Diamond Syndrome (SDS) that is often confused with CF because it tends to generate eleveated but not positive sweat scores and symptoms include failure to thrive.

Good luck and welcome to the site!!!
 
M

Mommafirst

Guest
Hi Barbara,

My daughter had borderline (53 and 45) sweat tests and was born with a meconium plug (not meconium illeus). Those two coupled together made our CF doc "suspicious" and we eventually had the full sequencing, deletions & duplications (Ambry Amplified) mutation test. It revealed two CF genes and she was diagnosed.

In my experiences here, an elevated sweat and symptoms seems to be a very good reason to test with the big guns. If that reveals nothing you will haved ruled out CF. Its a good thing!!! <img src="i/expressions/face-icon-small-smile.gif" border="0"> But from what I have read there is a disease called Schwachman Diamond Syndrome (SDS) that is often confused with CF because it tends to generate eleveated but not positive sweat scores and symptoms include failure to thrive.

Good luck and welcome to the site!!!
 
M

Mommafirst

Guest
Hi Barbara,

My daughter had borderline (53 and 45) sweat tests and was born with a meconium plug (not meconium illeus). Those two coupled together made our CF doc "suspicious" and we eventually had the full sequencing, deletions & duplications (Ambry Amplified) mutation test. It revealed two CF genes and she was diagnosed.

In my experiences here, an elevated sweat and symptoms seems to be a very good reason to test with the big guns. If that reveals nothing you will haved ruled out CF. Its a good thing!!! <img src="i/expressions/face-icon-small-smile.gif" border="0"> But from what I have read there is a disease called Schwachman Diamond Syndrome (SDS) that is often confused with CF because it tends to generate eleveated but not positive sweat scores and symptoms include failure to thrive.

Good luck and welcome to the site!!!
 
M

Mommafirst

Guest
Hi Barbara,

My daughter had borderline (53 and 45) sweat tests and was born with a meconium plug (not meconium illeus). Those two coupled together made our CF doc "suspicious" and we eventually had the full sequencing, deletions & duplications (Ambry Amplified) mutation test. It revealed two CF genes and she was diagnosed.

In my experiences here, an elevated sweat and symptoms seems to be a very good reason to test with the big guns. If that reveals nothing you will haved ruled out CF. Its a good thing!!! <img src="i/expressions/face-icon-small-smile.gif" border="0"> But from what I have read there is a disease called Schwachman Diamond Syndrome (SDS) that is often confused with CF because it tends to generate eleveated but not positive sweat scores and symptoms include failure to thrive.

Good luck and welcome to the site!!!
 
M

Mommafirst

Guest
Hi Barbara,
<br />
<br />My daughter had borderline (53 and 45) sweat tests and was born with a meconium plug (not meconium illeus). Those two coupled together made our CF doc "suspicious" and we eventually had the full sequencing, deletions & duplications (Ambry Amplified) mutation test. It revealed two CF genes and she was diagnosed.
<br />
<br />In my experiences here, an elevated sweat and symptoms seems to be a very good reason to test with the big guns. If that reveals nothing you will haved ruled out CF. Its a good thing!!! <img src="i/expressions/face-icon-small-smile.gif" border="0"> But from what I have read there is a disease called Schwachman Diamond Syndrome (SDS) that is often confused with CF because it tends to generate eleveated but not positive sweat scores and symptoms include failure to thrive.
<br />
<br />Good luck and welcome to the site!!!
 
C

chrissyd

New member
I saw your post in the diagnosis section, but wanted to reply here...
I agree with the other posters! Push to get the Ambry, that way you get a reliable answer. And please don't feel like you should "quit freaking out and leave it alone"...

My parents were concerned about my health when I was a baby, but my doctor told them I wasn't "sick enough" to have CF...

I wasn't diagnosed until I was 21. Go with your gut, don't let anyone convince you to second guess yourself.

<img src="i/expressions/rose.gif" border="0">
Chrissy
 
C

chrissyd

New member
I saw your post in the diagnosis section, but wanted to reply here...
I agree with the other posters! Push to get the Ambry, that way you get a reliable answer. And please don't feel like you should "quit freaking out and leave it alone"...

My parents were concerned about my health when I was a baby, but my doctor told them I wasn't "sick enough" to have CF...

I wasn't diagnosed until I was 21. Go with your gut, don't let anyone convince you to second guess yourself.

<img src="i/expressions/rose.gif" border="0">
Chrissy
 
C

chrissyd

New member
I saw your post in the diagnosis section, but wanted to reply here...
I agree with the other posters! Push to get the Ambry, that way you get a reliable answer. And please don't feel like you should "quit freaking out and leave it alone"...

My parents were concerned about my health when I was a baby, but my doctor told them I wasn't "sick enough" to have CF...

I wasn't diagnosed until I was 21. Go with your gut, don't let anyone convince you to second guess yourself.

<img src="i/expressions/rose.gif" border="0">
Chrissy
 
C

chrissyd

New member
I saw your post in the diagnosis section, but wanted to reply here...
I agree with the other posters! Push to get the Ambry, that way you get a reliable answer. And please don't feel like you should "quit freaking out and leave it alone"...

My parents were concerned about my health when I was a baby, but my doctor told them I wasn't "sick enough" to have CF...

I wasn't diagnosed until I was 21. Go with your gut, don't let anyone convince you to second guess yourself.

<img src="i/expressions/rose.gif" border="0">
Chrissy
 
C

chrissyd

New member
I saw your post in the diagnosis section, but wanted to reply here...
<br />I agree with the other posters! Push to get the Ambry, that way you get a reliable answer. And please don't feel like you should "quit freaking out and leave it alone"...
<br />
<br />My parents were concerned about my health when I was a baby, but my doctor told them I wasn't "sick enough" to have CF...
<br />
<br />I wasn't diagnosed until I was 21. Go with your gut, don't let anyone convince you to second guess yourself.
<br />
<br /><img src="i/expressions/rose.gif" border="0">
<br />Chrissy
 
C

CatesMom

New member
I appreciate all of your support and advice. I think in my heart, I knew what you all were going to say. I write this in tears knowing what may come of it. I'm going to call our pediatrician Monday and see if we can get in to the CF Center in Oklahoma City as soon as possible. I'm also going to see if he can do the Ambry test now while we wait for our appointment with the pulmonologist. Keep the advice, suggestions, and support coming. I need it!
Barbara
Mom to Cate
 
C

CatesMom

New member
I appreciate all of your support and advice. I think in my heart, I knew what you all were going to say. I write this in tears knowing what may come of it. I'm going to call our pediatrician Monday and see if we can get in to the CF Center in Oklahoma City as soon as possible. I'm also going to see if he can do the Ambry test now while we wait for our appointment with the pulmonologist. Keep the advice, suggestions, and support coming. I need it!
Barbara
Mom to Cate
 
C

CatesMom

New member
I appreciate all of your support and advice. I think in my heart, I knew what you all were going to say. I write this in tears knowing what may come of it. I'm going to call our pediatrician Monday and see if we can get in to the CF Center in Oklahoma City as soon as possible. I'm also going to see if he can do the Ambry test now while we wait for our appointment with the pulmonologist. Keep the advice, suggestions, and support coming. I need it!
Barbara
Mom to Cate
 
C

CatesMom

New member
I appreciate all of your support and advice. I think in my heart, I knew what you all were going to say. I write this in tears knowing what may come of it. I'm going to call our pediatrician Monday and see if we can get in to the CF Center in Oklahoma City as soon as possible. I'm also going to see if he can do the Ambry test now while we wait for our appointment with the pulmonologist. Keep the advice, suggestions, and support coming. I need it!
Barbara
Mom to Cate
 
C

CatesMom

New member
I appreciate all of your support and advice. I think in my heart, I knew what you all were going to say. I write this in tears knowing what may come of it. I'm going to call our pediatrician Monday and see if we can get in to the CF Center in Oklahoma City as soon as possible. I'm also going to see if he can do the Ambry test now while we wait for our appointment with the pulmonologist. Keep the advice, suggestions, and support coming. I need it!
<br />Barbara
<br />Mom to Cate
 
K

ktsmom

New member
Barbara - I responded in the Families section before I saw your post here. We are in the OKC area as well. Dr. Santiago Reyes is fabulous and is a pediatric pulmonologist with LOTS of experience with CF (he is not currently associated with the OKC CF Center but used to be). There is not a huge waiting time for appointments with him, as far as I know. Call him and tell him what is going on. He can do the full Ambry test. I'm going to send you a PM. Hugs!
 
K

ktsmom

New member
Barbara - I responded in the Families section before I saw your post here. We are in the OKC area as well. Dr. Santiago Reyes is fabulous and is a pediatric pulmonologist with LOTS of experience with CF (he is not currently associated with the OKC CF Center but used to be). There is not a huge waiting time for appointments with him, as far as I know. Call him and tell him what is going on. He can do the full Ambry test. I'm going to send you a PM. Hugs!
 
K

ktsmom

New member
Barbara - I responded in the Families section before I saw your post here. We are in the OKC area as well. Dr. Santiago Reyes is fabulous and is a pediatric pulmonologist with LOTS of experience with CF (he is not currently associated with the OKC CF Center but used to be). There is not a huge waiting time for appointments with him, as far as I know. Call him and tell him what is going on. He can do the full Ambry test. I'm going to send you a PM. Hugs!
 
K

ktsmom

New member
Barbara - I responded in the Families section before I saw your post here. We are in the OKC area as well. Dr. Santiago Reyes is fabulous and is a pediatric pulmonologist with LOTS of experience with CF (he is not currently associated with the OKC CF Center but used to be). There is not a huge waiting time for appointments with him, as far as I know. Call him and tell him what is going on. He can do the full Ambry test. I'm going to send you a PM. Hugs!
 
K

ktsmom

New member
Barbara - I responded in the Families section before I saw your post here. We are in the OKC area as well. Dr. Santiago Reyes is fabulous and is a pediatric pulmonologist with LOTS of experience with CF (he is not currently associated with the OKC CF Center but used to be). There is not a huge waiting time for appointments with him, as far as I know. Call him and tell him what is going on. He can do the full Ambry test. I'm going to send you a PM. Hugs!
 
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