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JoyfulHeart
11-13-2006, 11:15 PM
Does this sound like CF in a 5 year old boy?

1st 2 years of life, had 24 episodes of croup/asthma
11 hospitalizations of pneumonia. Almost died. Lung collapse. ICU.
"uncontrollable" asthma (docs just keep medicating aargh!)
Constipation on and off his whole life
Low LOW immune system
Sinus infections (that dont respond to antibiotics)
Catscan showed Sinus blockage that appears to be pollups (ENT was alarmed)
Always "hot natured"-- kid could sweat in a snowstorm

Adnoids and tonsils removed at age 2 because of recurring problems.

He's got good weight -- 50th percentile at this pediatrician appt last week, but when he's sick he goes on eating strike and refuses all food/drinks until well again. (drives me nuts!!)

His pumlonologist, immunologist and pediatrician are concerned. They said he shows MANY symptoms of possible CF, or a strain of CF.

We go wednesday for the Sweat test and doing the genetic test same time. Thursday is bronchial scope and possible MRI (if insurance will cooperate)

<b>
UPDATE BELOW&gt;&gt;&gt;&gt;&gt;&gt;&gt;&gt;</b>

Thoughts? Advice?

What should I ask the docs? What should I research?

Please know, that after all these years, I'm "OK" with the possibility of CF. I just wnat to know the CAUSE for him being so sick, so that we can treat whatever it is!

JoyfulHeart
11-13-2006, 11:15 PM
Does this sound like CF in a 5 year old boy?

1st 2 years of life, had 24 episodes of croup/asthma
11 hospitalizations of pneumonia. Almost died. Lung collapse. ICU.
"uncontrollable" asthma (docs just keep medicating aargh!)
Constipation on and off his whole life
Low LOW immune system
Sinus infections (that dont respond to antibiotics)
Catscan showed Sinus blockage that appears to be pollups (ENT was alarmed)
Always "hot natured"-- kid could sweat in a snowstorm

Adnoids and tonsils removed at age 2 because of recurring problems.

He's got good weight -- 50th percentile at this pediatrician appt last week, but when he's sick he goes on eating strike and refuses all food/drinks until well again. (drives me nuts!!)

His pumlonologist, immunologist and pediatrician are concerned. They said he shows MANY symptoms of possible CF, or a strain of CF.

We go wednesday for the Sweat test and doing the genetic test same time. Thursday is bronchial scope and possible MRI (if insurance will cooperate)

<b>
UPDATE BELOW&gt;&gt;&gt;&gt;&gt;&gt;&gt;&gt;</b>

Thoughts? Advice?

What should I ask the docs? What should I research?

Please know, that after all these years, I'm "OK" with the possibility of CF. I just wnat to know the CAUSE for him being so sick, so that we can treat whatever it is!

JoyfulHeart
11-13-2006, 11:15 PM
Does this sound like CF in a 5 year old boy?

1st 2 years of life, had 24 episodes of croup/asthma
11 hospitalizations of pneumonia. Almost died. Lung collapse. ICU.
"uncontrollable" asthma (docs just keep medicating aargh!)
Constipation on and off his whole life
Low LOW immune system
Sinus infections (that dont respond to antibiotics)
Catscan showed Sinus blockage that appears to be pollups (ENT was alarmed)
Always "hot natured"-- kid could sweat in a snowstorm

Adnoids and tonsils removed at age 2 because of recurring problems.

He's got good weight -- 50th percentile at this pediatrician appt last week, but when he's sick he goes on eating strike and refuses all food/drinks until well again. (drives me nuts!!)

His pumlonologist, immunologist and pediatrician are concerned. They said he shows MANY symptoms of possible CF, or a strain of CF.

We go wednesday for the Sweat test and doing the genetic test same time. Thursday is bronchial scope and possible MRI (if insurance will cooperate)

<b>
UPDATE BELOW&gt;&gt;&gt;&gt;&gt;&gt;&gt;&gt;</b>

Thoughts? Advice?

What should I ask the docs? What should I research?

Please know, that after all these years, I'm "OK" with the possibility of CF. I just wnat to know the CAUSE for him being so sick, so that we can treat whatever it is!

robert321
11-13-2006, 11:53 PM
Get that sweat chloride test and go from there, if indeed he has cf your dr. will give you info. on it. Hope yall find out whats wrong, I went for 14 years with "alergies and asthma" when it was really cf. When you find out what it is you can properly treat it and that helps a lot. We're all pulling for ya. Hang in there

robert321
11-13-2006, 11:53 PM
Get that sweat chloride test and go from there, if indeed he has cf your dr. will give you info. on it. Hope yall find out whats wrong, I went for 14 years with "alergies and asthma" when it was really cf. When you find out what it is you can properly treat it and that helps a lot. We're all pulling for ya. Hang in there

robert321
11-13-2006, 11:53 PM
Get that sweat chloride test and go from there, if indeed he has cf your dr. will give you info. on it. Hope yall find out whats wrong, I went for 14 years with "alergies and asthma" when it was really cf. When you find out what it is you can properly treat it and that helps a lot. We're all pulling for ya. Hang in there

mum2kj
11-14-2006, 03:22 AM
I am hoping for a report of No C/F, but if he does have it, all of the c/f treatments should get his symptoms under control.
Good luck <img src="i/expressions/face-icon-small-smile.gif" border="0">

mum2kj
11-14-2006, 03:22 AM
I am hoping for a report of No C/F, but if he does have it, all of the c/f treatments should get his symptoms under control.
Good luck <img src="i/expressions/face-icon-small-smile.gif" border="0">

mum2kj
11-14-2006, 03:22 AM
I am hoping for a report of No C/F, but if he does have it, all of the c/f treatments should get his symptoms under control.
Good luck <img src="i/expressions/face-icon-small-smile.gif" border="0">

Alyssa
11-14-2006, 04:09 AM
Yes, that does sound like some classic symptoms and he could be pancreatic sufficient (therefore the weight is ok & the constipation). It is possible it's CF -- it's good to test so you will know one way or the other.

That's very good news that the doctors are willing to do both the sweat test and the genetic testing -- be sure to ask for FULL GENETIC testing. There are over 1400 genes to test for, it is pointless to test for anything less than all of them because you will still not know for sure!

Read my blog (link at the bottom with my signature) for info on borderline or negative sweat tests that could still mean CF.

The best thing is at least if you find out he does have CF, you can start treating him for CF -- in theory he should feel better/get sick a little less often if he starts getting things like CPT and Pulmozyme (both will help clear out the lungs)

Be sure to let us know what happens.

Alyssa
11-14-2006, 04:09 AM
Yes, that does sound like some classic symptoms and he could be pancreatic sufficient (therefore the weight is ok & the constipation). It is possible it's CF -- it's good to test so you will know one way or the other.

That's very good news that the doctors are willing to do both the sweat test and the genetic testing -- be sure to ask for FULL GENETIC testing. There are over 1400 genes to test for, it is pointless to test for anything less than all of them because you will still not know for sure!

Read my blog (link at the bottom with my signature) for info on borderline or negative sweat tests that could still mean CF.

The best thing is at least if you find out he does have CF, you can start treating him for CF -- in theory he should feel better/get sick a little less often if he starts getting things like CPT and Pulmozyme (both will help clear out the lungs)

Be sure to let us know what happens.

Alyssa
11-14-2006, 04:09 AM
Yes, that does sound like some classic symptoms and he could be pancreatic sufficient (therefore the weight is ok & the constipation). It is possible it's CF -- it's good to test so you will know one way or the other.

That's very good news that the doctors are willing to do both the sweat test and the genetic testing -- be sure to ask for FULL GENETIC testing. There are over 1400 genes to test for, it is pointless to test for anything less than all of them because you will still not know for sure!

Read my blog (link at the bottom with my signature) for info on borderline or negative sweat tests that could still mean CF.

The best thing is at least if you find out he does have CF, you can start treating him for CF -- in theory he should feel better/get sick a little less often if he starts getting things like CPT and Pulmozyme (both will help clear out the lungs)

Be sure to let us know what happens.

JoyfulHeart
11-14-2006, 08:42 PM
<b>I'm VERY VERY VERY FRUSTRATED!!!

AAARRRGGGHHHHHHHH</b>Doc said he agreed with suspicion of CF, BUT.......

Doc said he'll only agree to the sweat test, and a small genetics test that only tests the 32 most common CF strains.

He wants to rule out other stuff first. Which annyos me because I don't believe the things he wants to rule out are worth pursuing!

He wants to rule out lung deformity (that was done 2 years ago by another doc!! WHY are we doing that again????)

He wants to rule out reflux (kid has never had any problems before and does not even fit the profile for a reflux kid!!??)


MY BIGGEST FEAR out of all this is that IF ben IS a CF kid, that he doesn't show up and gets misdiagnosed all because a doc wasn't willing to get the full panel done. I worry that we will waste time and money and more hospital visits while we "rule out" everything else in the world! I worry that I'm wasting time that is valuable!!!!

Ok, pray that IF ben has CF (no i'm not hoping he does) but IF he does, that it shows up on the sweat test and the blood test. Otherwise I have to prove to this doc that it's not something else, before he'll agree to the test.

He's a good doc-- I've been told he's one of the best high-risk pediatric pulmonologists in the area.

I just want a definite answer, no matter what.


<img src="i/expressions/brokenheart.gif" border="0">

JoyfulHeart
11-14-2006, 08:42 PM
<b>I'm VERY VERY VERY FRUSTRATED!!!

AAARRRGGGHHHHHHHH</b>Doc said he agreed with suspicion of CF, BUT.......

Doc said he'll only agree to the sweat test, and a small genetics test that only tests the 32 most common CF strains.

He wants to rule out other stuff first. Which annyos me because I don't believe the things he wants to rule out are worth pursuing!

He wants to rule out lung deformity (that was done 2 years ago by another doc!! WHY are we doing that again????)

He wants to rule out reflux (kid has never had any problems before and does not even fit the profile for a reflux kid!!??)


MY BIGGEST FEAR out of all this is that IF ben IS a CF kid, that he doesn't show up and gets misdiagnosed all because a doc wasn't willing to get the full panel done. I worry that we will waste time and money and more hospital visits while we "rule out" everything else in the world! I worry that I'm wasting time that is valuable!!!!

Ok, pray that IF ben has CF (no i'm not hoping he does) but IF he does, that it shows up on the sweat test and the blood test. Otherwise I have to prove to this doc that it's not something else, before he'll agree to the test.

He's a good doc-- I've been told he's one of the best high-risk pediatric pulmonologists in the area.

I just want a definite answer, no matter what.


<img src="i/expressions/brokenheart.gif" border="0">

JoyfulHeart
11-14-2006, 08:42 PM
<b>I'm VERY VERY VERY FRUSTRATED!!!

AAARRRGGGHHHHHHHH</b>Doc said he agreed with suspicion of CF, BUT.......

Doc said he'll only agree to the sweat test, and a small genetics test that only tests the 32 most common CF strains.

He wants to rule out other stuff first. Which annyos me because I don't believe the things he wants to rule out are worth pursuing!

He wants to rule out lung deformity (that was done 2 years ago by another doc!! WHY are we doing that again????)

He wants to rule out reflux (kid has never had any problems before and does not even fit the profile for a reflux kid!!??)


MY BIGGEST FEAR out of all this is that IF ben IS a CF kid, that he doesn't show up and gets misdiagnosed all because a doc wasn't willing to get the full panel done. I worry that we will waste time and money and more hospital visits while we "rule out" everything else in the world! I worry that I'm wasting time that is valuable!!!!

Ok, pray that IF ben has CF (no i'm not hoping he does) but IF he does, that it shows up on the sweat test and the blood test. Otherwise I have to prove to this doc that it's not something else, before he'll agree to the test.

He's a good doc-- I've been told he's one of the best high-risk pediatric pulmonologists in the area.

I just want a definite answer, no matter what.


<img src="i/expressions/brokenheart.gif" border="0">

anonymous
11-14-2006, 11:27 PM
It is fairly normal for them to start genetic testing with the minimum test and then work up to the full panel if the first test shows no mutations. The full panel test is a lot more expensive and the insurance companies don't want to pay for the full blown test if the 1st test shows the mutations. Sucks, but it's the facts of life with insurance companies.

anonymous
11-14-2006, 11:27 PM
It is fairly normal for them to start genetic testing with the minimum test and then work up to the full panel if the first test shows no mutations. The full panel test is a lot more expensive and the insurance companies don't want to pay for the full blown test if the 1st test shows the mutations. Sucks, but it's the facts of life with insurance companies.

anonymous
11-14-2006, 11:27 PM
It is fairly normal for them to start genetic testing with the minimum test and then work up to the full panel if the first test shows no mutations. The full panel test is a lot more expensive and the insurance companies don't want to pay for the full blown test if the 1st test shows the mutations. Sucks, but it's the facts of life with insurance companies.

sorels
11-26-2006, 08:27 AM
the truth is sweat chloride tests dont come cheap...U must demand that ur son get a sweat test and that CF is what ur particularly worried about....dont take no for an answer....my mom battled the same thing with me and I was finall diagnosed at 2 yrs old....i started showing symptoms of CF at birth..a sweat test is the only thin that can rule out CF for sure....be firm with the next doc u talk to and let them know u mean business.....thew will try to look for everything else in the medical book before the give a sweat chloride test....Im tellin demand it....and if the doc says anything off the subject....u get back on the subject and say there is nothing else that u want....they have to listen to....the problem is that most parents r left in the dark about how they can fin out if there kid has CF....so now u know what to ask for....get'r done lol....good luck....DAN <img src="i/expressions/face-icon-small-smile.gif" border="0"> CF patient

sorels
11-26-2006, 08:27 AM
the truth is sweat chloride tests dont come cheap...U must demand that ur son get a sweat test and that CF is what ur particularly worried about....dont take no for an answer....my mom battled the same thing with me and I was finall diagnosed at 2 yrs old....i started showing symptoms of CF at birth..a sweat test is the only thin that can rule out CF for sure....be firm with the next doc u talk to and let them know u mean business.....thew will try to look for everything else in the medical book before the give a sweat chloride test....Im tellin demand it....and if the doc says anything off the subject....u get back on the subject and say there is nothing else that u want....they have to listen to....the problem is that most parents r left in the dark about how they can fin out if there kid has CF....so now u know what to ask for....get'r done lol....good luck....DAN <img src="i/expressions/face-icon-small-smile.gif" border="0"> CF patient

sorels
11-26-2006, 08:27 AM
the truth is sweat chloride tests dont come cheap...U must demand that ur son get a sweat test and that CF is what ur particularly worried about....dont take no for an answer....my mom battled the same thing with me and I was finall diagnosed at 2 yrs old....i started showing symptoms of CF at birth..a sweat test is the only thin that can rule out CF for sure....be firm with the next doc u talk to and let them know u mean business.....thew will try to look for everything else in the medical book before the give a sweat chloride test....Im tellin demand it....and if the doc says anything off the subject....u get back on the subject and say there is nothing else that u want....they have to listen to....the problem is that most parents r left in the dark about how they can fin out if there kid has CF....so now u know what to ask for....get'r done lol....good luck....DAN <img src="i/expressions/face-icon-small-smile.gif" border="0"> CF patient

damiensmom
11-26-2006, 08:53 AM
Go to the heart of the matter so to speak. Damien my son had every test done at 2 weeks because the doc suspected cf. After a month of test we were sent home with a dx of no cf. I got a call 2 weeks later saying sorry the genetic blood panel came back he does have cf. there are false negatives. no false positives. you think with all thats going on it would have already been done.

damiensmom
11-26-2006, 08:53 AM
Go to the heart of the matter so to speak. Damien my son had every test done at 2 weeks because the doc suspected cf. After a month of test we were sent home with a dx of no cf. I got a call 2 weeks later saying sorry the genetic blood panel came back he does have cf. there are false negatives. no false positives. you think with all thats going on it would have already been done.

damiensmom
11-26-2006, 08:53 AM
Go to the heart of the matter so to speak. Damien my son had every test done at 2 weeks because the doc suspected cf. After a month of test we were sent home with a dx of no cf. I got a call 2 weeks later saying sorry the genetic blood panel came back he does have cf. there are false negatives. no false positives. you think with all thats going on it would have already been done.

amber682
11-27-2006, 01:57 AM
<div class="FTQUOTE"><begin quote>He wants to rule out reflux (kid has never had any problems before and does not even fit the profile for a reflux kid!!??) </end quote></div>

It doesn't make sense to me that the doctor wants to rule out reflux. Tons of people with CF have reflux issues, especially children!

Hopefully the sweat test will give you a diagnosis. Or maybe the genetic test. Even if it only picks up one mutation, maybe that'll give you the ammo to get them to do a more extensive test.

Those symptoms you listed would make me think CF. Sinus problems and polyps are very common problems with CFers. And hospitalized 11 times for pneumonia in 2 years! Plus seemingly uncontrollable asthma symptoms! I think these docs should have suspected CF sooner! And don't let them tell you it's not a possibility because he doesn't have trouble with weight, because not all CFers are pancreatic insufficient.

It makes me angry because I know what it was like when my son was so sick and on a vent and in nutritional failure and I thought he was going to die and I knew it was CF (I knew I was a carrier), but the doctors would not just do the simple sweat test. It took them 4 weeks of testing everything else under the son first while my son got sicker and sicker.

How about the bronch you mentioned in the original post? Did he have that yet? That could point to CF if he's growing certain bacteria in there that are common in people with CF that people without CF don't usually have in their lungs, like staph or pseudomonas. I hope everything went well! Keep us posted and I hope your son is feeling better and that you finally get an answer.

amber682
11-27-2006, 01:57 AM
<div class="FTQUOTE"><begin quote>He wants to rule out reflux (kid has never had any problems before and does not even fit the profile for a reflux kid!!??) </end quote></div>

It doesn't make sense to me that the doctor wants to rule out reflux. Tons of people with CF have reflux issues, especially children!

Hopefully the sweat test will give you a diagnosis. Or maybe the genetic test. Even if it only picks up one mutation, maybe that'll give you the ammo to get them to do a more extensive test.

Those symptoms you listed would make me think CF. Sinus problems and polyps are very common problems with CFers. And hospitalized 11 times for pneumonia in 2 years! Plus seemingly uncontrollable asthma symptoms! I think these docs should have suspected CF sooner! And don't let them tell you it's not a possibility because he doesn't have trouble with weight, because not all CFers are pancreatic insufficient.

It makes me angry because I know what it was like when my son was so sick and on a vent and in nutritional failure and I thought he was going to die and I knew it was CF (I knew I was a carrier), but the doctors would not just do the simple sweat test. It took them 4 weeks of testing everything else under the son first while my son got sicker and sicker.

How about the bronch you mentioned in the original post? Did he have that yet? That could point to CF if he's growing certain bacteria in there that are common in people with CF that people without CF don't usually have in their lungs, like staph or pseudomonas. I hope everything went well! Keep us posted and I hope your son is feeling better and that you finally get an answer.

amber682
11-27-2006, 01:57 AM
<div class="FTQUOTE"><begin quote>He wants to rule out reflux (kid has never had any problems before and does not even fit the profile for a reflux kid!!??) </end quote></div>

It doesn't make sense to me that the doctor wants to rule out reflux. Tons of people with CF have reflux issues, especially children!

Hopefully the sweat test will give you a diagnosis. Or maybe the genetic test. Even if it only picks up one mutation, maybe that'll give you the ammo to get them to do a more extensive test.

Those symptoms you listed would make me think CF. Sinus problems and polyps are very common problems with CFers. And hospitalized 11 times for pneumonia in 2 years! Plus seemingly uncontrollable asthma symptoms! I think these docs should have suspected CF sooner! And don't let them tell you it's not a possibility because he doesn't have trouble with weight, because not all CFers are pancreatic insufficient.

It makes me angry because I know what it was like when my son was so sick and on a vent and in nutritional failure and I thought he was going to die and I knew it was CF (I knew I was a carrier), but the doctors would not just do the simple sweat test. It took them 4 weeks of testing everything else under the son first while my son got sicker and sicker.

How about the bronch you mentioned in the original post? Did he have that yet? That could point to CF if he's growing certain bacteria in there that are common in people with CF that people without CF don't usually have in their lungs, like staph or pseudomonas. I hope everything went well! Keep us posted and I hope your son is feeling better and that you finally get an answer.

Alessia2dance
11-28-2006, 05:36 PM
It does sound like possible cf to me but i'm not a dr. It took my mom 12 different docs to finally dx me. My advice would be to go to another doc and get alternative opinions. I'm sorry to hear about what you and poor son are going through. good luck. keep us posted

Alessia2dance
11-28-2006, 05:36 PM
It does sound like possible cf to me but i'm not a dr. It took my mom 12 different docs to finally dx me. My advice would be to go to another doc and get alternative opinions. I'm sorry to hear about what you and poor son are going through. good luck. keep us posted

Alessia2dance
11-28-2006, 05:36 PM
It does sound like possible cf to me but i'm not a dr. It took my mom 12 different docs to finally dx me. My advice would be to go to another doc and get alternative opinions. I'm sorry to hear about what you and poor son are going through. good luck. keep us posted

loriz65
11-28-2006, 07:08 PM
This topic makes me sick! Why do the doctors waste precious time in trying to find out what is wrong with a child when it is so obvious! 11 times for pneumonia... you'd think somebody with a doctors degree and the fact that they might read a medical journal once in a while might add one and one together! This absolutely infuriates me to no end! This child is 5 years old and so much time has been wasted! Joyfulheart, you want thoughts and advise... I personally would be screaming incompetance or finding another doctor.

Loriz65 Aunt/CF Child

loriz65
11-28-2006, 07:08 PM
This topic makes me sick! Why do the doctors waste precious time in trying to find out what is wrong with a child when it is so obvious! 11 times for pneumonia... you'd think somebody with a doctors degree and the fact that they might read a medical journal once in a while might add one and one together! This absolutely infuriates me to no end! This child is 5 years old and so much time has been wasted! Joyfulheart, you want thoughts and advise... I personally would be screaming incompetance or finding another doctor.

Loriz65 Aunt/CF Child

loriz65
11-28-2006, 07:08 PM
This topic makes me sick! Why do the doctors waste precious time in trying to find out what is wrong with a child when it is so obvious! 11 times for pneumonia... you'd think somebody with a doctors degree and the fact that they might read a medical journal once in a while might add one and one together! This absolutely infuriates me to no end! This child is 5 years old and so much time has been wasted! Joyfulheart, you want thoughts and advise... I personally would be screaming incompetance or finding another doctor.

Loriz65 Aunt/CF Child

JoyfulHeart
11-29-2006, 07:23 PM
Thanks for the advice. I'm more frustrated now.

Today we left the hospital after a bronchoscopy. Scar tissue was expected, given all his asthma/pneumonia issues. No sign of cancer or reflux (I told the doc that, so nanner nanner nanner!!! pbbbbbtttt! <img src="i/expressions/face-icon-small-happy.gif" border="0"> )

The opening to the lower left lung is abnormally small, which explains why when he gets pneumonia, that lung collapses-- the pneumonia could be making it swell, and then when it swells shut, it would obviously collapse. Ok. I get that.

BUT -- this told us NOTHING as to WHY he keeps getting sick!! AARGH!!!!

Doc sent lung tissue samples out to lab to see if there's any more info, but I'm not expecting much.

His sweat test was 15-- and was done at Children's in Dallas--I'm told that's a CF approved testing facility.

Anyone here test that low and still have CF????

The genetic testing the doc agreed to (after I nagged the poor man to death) only tests for 30 main mutations out of almost 1500-- I kinda see that as pointless, but what do I know? Test results due back in 2 weeks on that one.

I just have this gut feeling it's really CF, but nobody will listen to me. aarrgh.

JoyfulHeart
11-29-2006, 07:23 PM
Thanks for the advice. I'm more frustrated now.

Today we left the hospital after a bronchoscopy. Scar tissue was expected, given all his asthma/pneumonia issues. No sign of cancer or reflux (I told the doc that, so nanner nanner nanner!!! pbbbbbtttt! <img src="i/expressions/face-icon-small-happy.gif" border="0"> )

The opening to the lower left lung is abnormally small, which explains why when he gets pneumonia, that lung collapses-- the pneumonia could be making it swell, and then when it swells shut, it would obviously collapse. Ok. I get that.

BUT -- this told us NOTHING as to WHY he keeps getting sick!! AARGH!!!!

Doc sent lung tissue samples out to lab to see if there's any more info, but I'm not expecting much.

His sweat test was 15-- and was done at Children's in Dallas--I'm told that's a CF approved testing facility.

Anyone here test that low and still have CF????

The genetic testing the doc agreed to (after I nagged the poor man to death) only tests for 30 main mutations out of almost 1500-- I kinda see that as pointless, but what do I know? Test results due back in 2 weeks on that one.

I just have this gut feeling it's really CF, but nobody will listen to me. aarrgh.

JoyfulHeart
11-29-2006, 07:23 PM
Thanks for the advice. I'm more frustrated now.

Today we left the hospital after a bronchoscopy. Scar tissue was expected, given all his asthma/pneumonia issues. No sign of cancer or reflux (I told the doc that, so nanner nanner nanner!!! pbbbbbtttt! <img src="i/expressions/face-icon-small-happy.gif" border="0"> )

The opening to the lower left lung is abnormally small, which explains why when he gets pneumonia, that lung collapses-- the pneumonia could be making it swell, and then when it swells shut, it would obviously collapse. Ok. I get that.

BUT -- this told us NOTHING as to WHY he keeps getting sick!! AARGH!!!!

Doc sent lung tissue samples out to lab to see if there's any more info, but I'm not expecting much.

His sweat test was 15-- and was done at Children's in Dallas--I'm told that's a CF approved testing facility.

Anyone here test that low and still have CF????

The genetic testing the doc agreed to (after I nagged the poor man to death) only tests for 30 main mutations out of almost 1500-- I kinda see that as pointless, but what do I know? Test results due back in 2 weeks on that one.

I just have this gut feeling it's really CF, but nobody will listen to me. aarrgh.

Momto3
11-30-2006, 03:21 PM
Check into primary ciliary dyskinesia. It shares many symptoms with CF although the cause is totally different. Also, ask for immune deficiency testing. If he truelly has polyps in his sinuses, then I'd push for a full panel genetic testing for CF. Good luck!

Momto3
11-30-2006, 03:21 PM
Check into primary ciliary dyskinesia. It shares many symptoms with CF although the cause is totally different. Also, ask for immune deficiency testing. If he truelly has polyps in his sinuses, then I'd push for a full panel genetic testing for CF. Good luck!

Momto3
11-30-2006, 03:21 PM
Check into primary ciliary dyskinesia. It shares many symptoms with CF although the cause is totally different. Also, ask for immune deficiency testing. If he truelly has polyps in his sinuses, then I'd push for a full panel genetic testing for CF. Good luck!

JoyfulHeart
11-30-2006, 03:24 PM
We've gotten the immune testing. He's got a good memory to vaccinations, but everything else his body just doesn't fight.

Thanks for the lead on primary ciliary dyskinesia, I'm off to google it now!

Oh, the doc JUST called and said he's having a vest sent over-- I thought they ONLY did that for CF?????

JoyfulHeart
11-30-2006, 03:24 PM
We've gotten the immune testing. He's got a good memory to vaccinations, but everything else his body just doesn't fight.

Thanks for the lead on primary ciliary dyskinesia, I'm off to google it now!

Oh, the doc JUST called and said he's having a vest sent over-- I thought they ONLY did that for CF?????

JoyfulHeart
11-30-2006, 03:24 PM
We've gotten the immune testing. He's got a good memory to vaccinations, but everything else his body just doesn't fight.

Thanks for the lead on primary ciliary dyskinesia, I'm off to google it now!

Oh, the doc JUST called and said he's having a vest sent over-- I thought they ONLY did that for CF?????

BOOANDFAMILY
12-05-2006, 01:42 PM
I had difficulty getting my children tested for CF and when my 12 year daughter wound up in the hospital in March with asthmatic attack (never diagnosed as having asthma this was the 1st flare-up), I put my foot down and requested testing for both kids. My son was salty all of his life and didn't have specific severe symptoms of CF, but did have some milder symptoms similar to his cousin who has CF. We had the sweat tests done and my son's came back positive then 2nd test came back grey zone so the CF doctors did Genetic Testing, the full 1400 panel. My son has 2 different gene mutations and my daughter luckily isn't even a carrier. No one thought, except me, that my son could have CF. Our primary doctor was cooperative though and had given us the referrals to the CF center. The CF center felt neither kid had CF but possibly asthma. I had to push for the testing, but in the end, the doctors were stunned. My whole point is, don't give up. Have you requested a referral to a CF center... I would hope that your primary would do that for you. I was tested prior to having kids and I was negative. My husband is a carrier... so doing the 35 mutations, as you already know, is a waste of time & money. I obviously had a gene mutation that was not covered by the 35 panel. Good luck to you.

BOOANDFAMILY
12-05-2006, 01:42 PM
I had difficulty getting my children tested for CF and when my 12 year daughter wound up in the hospital in March with asthmatic attack (never diagnosed as having asthma this was the 1st flare-up), I put my foot down and requested testing for both kids. My son was salty all of his life and didn't have specific severe symptoms of CF, but did have some milder symptoms similar to his cousin who has CF. We had the sweat tests done and my son's came back positive then 2nd test came back grey zone so the CF doctors did Genetic Testing, the full 1400 panel. My son has 2 different gene mutations and my daughter luckily isn't even a carrier. No one thought, except me, that my son could have CF. Our primary doctor was cooperative though and had given us the referrals to the CF center. The CF center felt neither kid had CF but possibly asthma. I had to push for the testing, but in the end, the doctors were stunned. My whole point is, don't give up. Have you requested a referral to a CF center... I would hope that your primary would do that for you. I was tested prior to having kids and I was negative. My husband is a carrier... so doing the 35 mutations, as you already know, is a waste of time & money. I obviously had a gene mutation that was not covered by the 35 panel. Good luck to you.

BOOANDFAMILY
12-05-2006, 01:42 PM
I had difficulty getting my children tested for CF and when my 12 year daughter wound up in the hospital in March with asthmatic attack (never diagnosed as having asthma this was the 1st flare-up), I put my foot down and requested testing for both kids. My son was salty all of his life and didn't have specific severe symptoms of CF, but did have some milder symptoms similar to his cousin who has CF. We had the sweat tests done and my son's came back positive then 2nd test came back grey zone so the CF doctors did Genetic Testing, the full 1400 panel. My son has 2 different gene mutations and my daughter luckily isn't even a carrier. No one thought, except me, that my son could have CF. Our primary doctor was cooperative though and had given us the referrals to the CF center. The CF center felt neither kid had CF but possibly asthma. I had to push for the testing, but in the end, the doctors were stunned. My whole point is, don't give up. Have you requested a referral to a CF center... I would hope that your primary would do that for you. I was tested prior to having kids and I was negative. My husband is a carrier... so doing the 35 mutations, as you already know, is a waste of time & money. I obviously had a gene mutation that was not covered by the 35 panel. Good luck to you.

BOOANDFAMILY
12-05-2006, 01:46 PM
Oh, negative sweat tests are inconclusive. A person with CF can have a negative sweat test result. Quite confusing. I am hoping you get your answers soon. I have only heard of the vest being used for CF, but maybe there is new protocol for other health issues that they now use the vest?!

BOOANDFAMILY
12-05-2006, 01:46 PM
Oh, negative sweat tests are inconclusive. A person with CF can have a negative sweat test result. Quite confusing. I am hoping you get your answers soon. I have only heard of the vest being used for CF, but maybe there is new protocol for other health issues that they now use the vest?!

BOOANDFAMILY
12-05-2006, 01:46 PM
Oh, negative sweat tests are inconclusive. A person with CF can have a negative sweat test result. Quite confusing. I am hoping you get your answers soon. I have only heard of the vest being used for CF, but maybe there is new protocol for other health issues that they now use the vest?!

JoyfulHeart
12-05-2006, 01:55 PM
Doc called me and we discussed son's medical history. He agreed CF is a possibility, but he didn't "think so". He did agree, for my peace, to get the FULL AMBRY CF testing done. I go today and get the paperwork.!!!

WOOHOO!!!
I feel like I just won a big battle by getting the doc to agree to do this test! LOL

Yeah, the vest threw me too-- I asked him if we were getting the vest because Ben has CF symptoms, but he didn't directly answer me, so I dunno. Who know's what's going on in that doc's brain!!!!

The vest arrives Thursday though. Did ya'll know it costs $16,000!?!?!?!? Holy moly! that's alot!!! I cant imaging he'd insist on puttin a rush on it to get it to us, if he didn't have a reason. I mean, my arm ain't broke--- I can whack my son's back every day for free. LOL But I'm not complaining, not at all! LOL

JoyfulHeart
12-05-2006, 01:55 PM
Doc called me and we discussed son's medical history. He agreed CF is a possibility, but he didn't "think so". He did agree, for my peace, to get the FULL AMBRY CF testing done. I go today and get the paperwork.!!!

WOOHOO!!!
I feel like I just won a big battle by getting the doc to agree to do this test! LOL

Yeah, the vest threw me too-- I asked him if we were getting the vest because Ben has CF symptoms, but he didn't directly answer me, so I dunno. Who know's what's going on in that doc's brain!!!!

The vest arrives Thursday though. Did ya'll know it costs $16,000!?!?!?!? Holy moly! that's alot!!! I cant imaging he'd insist on puttin a rush on it to get it to us, if he didn't have a reason. I mean, my arm ain't broke--- I can whack my son's back every day for free. LOL But I'm not complaining, not at all! LOL

JoyfulHeart
12-05-2006, 01:55 PM
Doc called me and we discussed son's medical history. He agreed CF is a possibility, but he didn't "think so". He did agree, for my peace, to get the FULL AMBRY CF testing done. I go today and get the paperwork.!!!

WOOHOO!!!
I feel like I just won a big battle by getting the doc to agree to do this test! LOL

Yeah, the vest threw me too-- I asked him if we were getting the vest because Ben has CF symptoms, but he didn't directly answer me, so I dunno. Who know's what's going on in that doc's brain!!!!

The vest arrives Thursday though. Did ya'll know it costs $16,000!?!?!?!? Holy moly! that's alot!!! I cant imaging he'd insist on puttin a rush on it to get it to us, if he didn't have a reason. I mean, my arm ain't broke--- I can whack my son's back every day for free. LOL But I'm not complaining, not at all! LOL

ktsmom
12-05-2006, 02:12 PM
Holy moly is right, the Hill Rom folks make a lot of money off our insurance compaines, don't they........

I am so glad that you are getting the full mutation testing done. That cost us about $2,600 and of course Ambry is non-network so I think our share was about $650 after insurance.

But won't you be SO relieved to know one way or the other, after all that you have been through. And you still have your sense of humour intact! <img src="i/expressions/face-icon-small-happy.gif" border="0"> Amazing, and best wishes to you!

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)

ktsmom
12-05-2006, 02:12 PM
Holy moly is right, the Hill Rom folks make a lot of money off our insurance compaines, don't they........

I am so glad that you are getting the full mutation testing done. That cost us about $2,600 and of course Ambry is non-network so I think our share was about $650 after insurance.

But won't you be SO relieved to know one way or the other, after all that you have been through. And you still have your sense of humour intact! <img src="i/expressions/face-icon-small-happy.gif" border="0"> Amazing, and best wishes to you!

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)

ktsmom
12-05-2006, 02:12 PM
Holy moly is right, the Hill Rom folks make a lot of money off our insurance compaines, don't they........

I am so glad that you are getting the full mutation testing done. That cost us about $2,600 and of course Ambry is non-network so I think our share was about $650 after insurance.

But won't you be SO relieved to know one way or the other, after all that you have been through. And you still have your sense of humour intact! <img src="i/expressions/face-icon-small-happy.gif" border="0"> Amazing, and best wishes to you!

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)

amber682
12-05-2006, 07:20 PM
Good job on getting the doc to do the Ambry test! There is an Ambry:CF Amplified that picks up 99% of mutations. My son's original Ambry test only picked up deltaF508, so they recommended we continue with full sequence tesing and that picked up the other mutation (Q493X) about a month later.

And getting a vest so soon! I've seen some people really have to fight for one on this forum. I can't wait to get one, my son's still too little. Pretty soon I can give my arms a rest.

Best of luck with the test!

amber682
12-05-2006, 07:20 PM
Good job on getting the doc to do the Ambry test! There is an Ambry:CF Amplified that picks up 99% of mutations. My son's original Ambry test only picked up deltaF508, so they recommended we continue with full sequence tesing and that picked up the other mutation (Q493X) about a month later.

And getting a vest so soon! I've seen some people really have to fight for one on this forum. I can't wait to get one, my son's still too little. Pretty soon I can give my arms a rest.

Best of luck with the test!

amber682
12-05-2006, 07:20 PM
Good job on getting the doc to do the Ambry test! There is an Ambry:CF Amplified that picks up 99% of mutations. My son's original Ambry test only picked up deltaF508, so they recommended we continue with full sequence tesing and that picked up the other mutation (Q493X) about a month later.

And getting a vest so soon! I've seen some people really have to fight for one on this forum. I can't wait to get one, my son's still too little. Pretty soon I can give my arms a rest.

Best of luck with the test!

debs2girls
12-07-2006, 02:59 AM
Congrats on the full panel tests and the vest...my dd has had her vest since April and I got a call today from Hill-Rom, we lost the appeal for insurance to pay for it...so we are onto appeal number 2.
Good luck with the tests...your son sounds alot like my dd and we had a heck of a time getting her dx'ed too.

debs2girls
12-07-2006, 02:59 AM
Congrats on the full panel tests and the vest...my dd has had her vest since April and I got a call today from Hill-Rom, we lost the appeal for insurance to pay for it...so we are onto appeal number 2.
Good luck with the tests...your son sounds alot like my dd and we had a heck of a time getting her dx'ed too.

debs2girls
12-07-2006, 02:59 AM
Congrats on the full panel tests and the vest...my dd has had her vest since April and I got a call today from Hill-Rom, we lost the appeal for insurance to pay for it...so we are onto appeal number 2.
Good luck with the tests...your son sounds alot like my dd and we had a heck of a time getting her dx'ed too.