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44/43 sweat test results.......lots of questions???????
- Thread starter clawson5104
- Start date
clawson5104
New member
thanks for the reply Heather. i understand there can be other mutations, i was just wondering if it happens often. guess so since ur daughter is one of them. i will keep up to date as my son's tests results come. thanks a bunch. carrie
clawson5104
New member
thanks for the reply Heather. i understand there can be other mutations, i was just wondering if it happens often. guess so since ur daughter is one of them. i will keep up to date as my son's tests results come. thanks a bunch. carrie
clawson5104
New member
thanks for the reply Heather. i understand there can be other mutations, i was just wondering if it happens often. guess so since ur daughter is one of them. i will keep up to date as my son's tests results come. thanks a bunch. carrie
clawson5104
New member
thanks, i sure will. any info is great....thanks.
clawson5104
New member
thanks, i sure will. any info is great....thanks.
clawson5104
New member
thanks, i sure will. any info is great....thanks.
clawson5104
New member
my newest update.........................nothing.....not a word, no answers, no results.
obviously frustrated. wade seems to be on a roller coaster.......great one day, vomits that night, fine again in the morning, and the next day, then diarrhea for a day, then fine again for 2 days, and starts a runny nose and hacking cough again. doing all the treatments and singulair, vitamin, eating a little more, does not make it thru more than 8-10 minutes of "clapping"......still working on that one.
sooooooo, i reckon i'll just wait....<img src="i/expressions/face-icon-small-frown.gif" border="0">
carrie
mother of 4 boys.........youngest possible cf.
obviously frustrated. wade seems to be on a roller coaster.......great one day, vomits that night, fine again in the morning, and the next day, then diarrhea for a day, then fine again for 2 days, and starts a runny nose and hacking cough again. doing all the treatments and singulair, vitamin, eating a little more, does not make it thru more than 8-10 minutes of "clapping"......still working on that one.
sooooooo, i reckon i'll just wait....<img src="i/expressions/face-icon-small-frown.gif" border="0">
carrie
mother of 4 boys.........youngest possible cf.
clawson5104
New member
my newest update.........................nothing.....not a word, no answers, no results.
obviously frustrated. wade seems to be on a roller coaster.......great one day, vomits that night, fine again in the morning, and the next day, then diarrhea for a day, then fine again for 2 days, and starts a runny nose and hacking cough again. doing all the treatments and singulair, vitamin, eating a little more, does not make it thru more than 8-10 minutes of "clapping"......still working on that one.
sooooooo, i reckon i'll just wait....<img src="i/expressions/face-icon-small-frown.gif" border="0">
carrie
mother of 4 boys.........youngest possible cf.
obviously frustrated. wade seems to be on a roller coaster.......great one day, vomits that night, fine again in the morning, and the next day, then diarrhea for a day, then fine again for 2 days, and starts a runny nose and hacking cough again. doing all the treatments and singulair, vitamin, eating a little more, does not make it thru more than 8-10 minutes of "clapping"......still working on that one.
sooooooo, i reckon i'll just wait....<img src="i/expressions/face-icon-small-frown.gif" border="0">
carrie
mother of 4 boys.........youngest possible cf.
clawson5104
New member
my newest update.........................nothing.....not a word, no answers, no results.
obviously frustrated. wade seems to be on a roller coaster.......great one day, vomits that night, fine again in the morning, and the next day, then diarrhea for a day, then fine again for 2 days, and starts a runny nose and hacking cough again. doing all the treatments and singulair, vitamin, eating a little more, does not make it thru more than 8-10 minutes of "clapping"......still working on that one.
sooooooo, i reckon i'll just wait....<img src="i/expressions/face-icon-small-frown.gif" border="0">
carrie
mother of 4 boys.........youngest possible cf.
obviously frustrated. wade seems to be on a roller coaster.......great one day, vomits that night, fine again in the morning, and the next day, then diarrhea for a day, then fine again for 2 days, and starts a runny nose and hacking cough again. doing all the treatments and singulair, vitamin, eating a little more, does not make it thru more than 8-10 minutes of "clapping"......still working on that one.
sooooooo, i reckon i'll just wait....<img src="i/expressions/face-icon-small-frown.gif" border="0">
carrie
mother of 4 boys.........youngest possible cf.
clawson5104
New member
<img src="">
*************HELP?????********
got the results.......and i don't get it. his dr. says definitely a carrier......but due to symptoms and med.hx........he will be treated as a cf patient.....?????
thought maybe u guys with experience could tell me in common english.....'cause i dont get 1/2 of this stuff....bear with me......this is what it says....
-AMBIENT CFTR FULL GENE
-KNOWN MUTATIONS: R117H
-NOVEL VARIANTS: NONE DETECTED
-TG/REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
-GROSS DELETIONS/DUPLICATIONS: NONE DETECTED.........
then we have a test saying....
.........IgE--115 (reference range for 1-5yrs old is <60)
then there's a list of "S.PNEUMONIAE TYPE " tests some are in range , i question their meaning and one is Type6B and it's result was 5.7 ---- ref range>1.0
then we have a radiology report for chest PA and Lateral.....
Lung fields are hypoinflated. there is suggestion of mild cardiomegaly which may be related to low lung volumes. both lung fields are hazy in appearance, left slightly greater than right. no dfinite focal consolidation is seen. mild peribronchial cuffing is noted in the central region of the lung fields.
***********Now, then...........if ANYBODY can explain ....thoughts, opiniions, knowledge, experience.....ANYTHING.......it would be greatly appreciated. i asked the pulmonologist, and i just got more confused. she said i can call her back with any questions....but i am afraid of getting even more confused........so i thought i'd ask u guys....... and see his pediatrician. then maybe call cf nurse. all the info i can get. i just wonder if it is still possible he has cf, but maybe it's another mutation not known. he has alot of symptoms. and we do 4-6 nebs a day, 2 pulmocort, 2-4 albuterol depending on cough, singulair, prevacid, 1/2 vitamin(till new bloodwork comes back....checking his vitamin stuff?) clapping too. so i just donno. she says he is definitely a carrier at this time, possible cf later, used the terms atypical and symptomatic......will treat as cf patient, and start further labs today. everything from diabetes to allergies. 5 syringes of blood put into i donno how many vacutainers. i am glad she is taking care of him and being very thorough. i just wanna understand everything that's going on.
*************HELP?????********
got the results.......and i don't get it. his dr. says definitely a carrier......but due to symptoms and med.hx........he will be treated as a cf patient.....?????
thought maybe u guys with experience could tell me in common english.....'cause i dont get 1/2 of this stuff....bear with me......this is what it says....
-AMBIENT CFTR FULL GENE
-KNOWN MUTATIONS: R117H
-NOVEL VARIANTS: NONE DETECTED
-TG/REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
-GROSS DELETIONS/DUPLICATIONS: NONE DETECTED.........
then we have a test saying....
.........IgE--115 (reference range for 1-5yrs old is <60)
then there's a list of "S.PNEUMONIAE TYPE " tests some are in range , i question their meaning and one is Type6B and it's result was 5.7 ---- ref range>1.0
then we have a radiology report for chest PA and Lateral.....
Lung fields are hypoinflated. there is suggestion of mild cardiomegaly which may be related to low lung volumes. both lung fields are hazy in appearance, left slightly greater than right. no dfinite focal consolidation is seen. mild peribronchial cuffing is noted in the central region of the lung fields.
***********Now, then...........if ANYBODY can explain ....thoughts, opiniions, knowledge, experience.....ANYTHING.......it would be greatly appreciated. i asked the pulmonologist, and i just got more confused. she said i can call her back with any questions....but i am afraid of getting even more confused........so i thought i'd ask u guys....... and see his pediatrician. then maybe call cf nurse. all the info i can get. i just wonder if it is still possible he has cf, but maybe it's another mutation not known. he has alot of symptoms. and we do 4-6 nebs a day, 2 pulmocort, 2-4 albuterol depending on cough, singulair, prevacid, 1/2 vitamin(till new bloodwork comes back....checking his vitamin stuff?) clapping too. so i just donno. she says he is definitely a carrier at this time, possible cf later, used the terms atypical and symptomatic......will treat as cf patient, and start further labs today. everything from diabetes to allergies. 5 syringes of blood put into i donno how many vacutainers. i am glad she is taking care of him and being very thorough. i just wanna understand everything that's going on.
clawson5104
New member
<img src="">
*************HELP?????********
got the results.......and i don't get it. his dr. says definitely a carrier......but due to symptoms and med.hx........he will be treated as a cf patient.....?????
thought maybe u guys with experience could tell me in common english.....'cause i dont get 1/2 of this stuff....bear with me......this is what it says....
-AMBIENT CFTR FULL GENE
-KNOWN MUTATIONS: R117H
-NOVEL VARIANTS: NONE DETECTED
-TG/REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
-GROSS DELETIONS/DUPLICATIONS: NONE DETECTED.........
then we have a test saying....
.........IgE--115 (reference range for 1-5yrs old is <60)
then there's a list of "S.PNEUMONIAE TYPE " tests some are in range , i question their meaning and one is Type6B and it's result was 5.7 ---- ref range>1.0
then we have a radiology report for chest PA and Lateral.....
Lung fields are hypoinflated. there is suggestion of mild cardiomegaly which may be related to low lung volumes. both lung fields are hazy in appearance, left slightly greater than right. no dfinite focal consolidation is seen. mild peribronchial cuffing is noted in the central region of the lung fields.
***********Now, then...........if ANYBODY can explain ....thoughts, opiniions, knowledge, experience.....ANYTHING.......it would be greatly appreciated. i asked the pulmonologist, and i just got more confused. she said i can call her back with any questions....but i am afraid of getting even more confused........so i thought i'd ask u guys....... and see his pediatrician. then maybe call cf nurse. all the info i can get. i just wonder if it is still possible he has cf, but maybe it's another mutation not known. he has alot of symptoms. and we do 4-6 nebs a day, 2 pulmocort, 2-4 albuterol depending on cough, singulair, prevacid, 1/2 vitamin(till new bloodwork comes back....checking his vitamin stuff?) clapping too. so i just donno. she says he is definitely a carrier at this time, possible cf later, used the terms atypical and symptomatic......will treat as cf patient, and start further labs today. everything from diabetes to allergies. 5 syringes of blood put into i donno how many vacutainers. i am glad she is taking care of him and being very thorough. i just wanna understand everything that's going on.
*************HELP?????********
got the results.......and i don't get it. his dr. says definitely a carrier......but due to symptoms and med.hx........he will be treated as a cf patient.....?????
thought maybe u guys with experience could tell me in common english.....'cause i dont get 1/2 of this stuff....bear with me......this is what it says....
-AMBIENT CFTR FULL GENE
-KNOWN MUTATIONS: R117H
-NOVEL VARIANTS: NONE DETECTED
-TG/REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
-GROSS DELETIONS/DUPLICATIONS: NONE DETECTED.........
then we have a test saying....
.........IgE--115 (reference range for 1-5yrs old is <60)
then there's a list of "S.PNEUMONIAE TYPE " tests some are in range , i question their meaning and one is Type6B and it's result was 5.7 ---- ref range>1.0
then we have a radiology report for chest PA and Lateral.....
Lung fields are hypoinflated. there is suggestion of mild cardiomegaly which may be related to low lung volumes. both lung fields are hazy in appearance, left slightly greater than right. no dfinite focal consolidation is seen. mild peribronchial cuffing is noted in the central region of the lung fields.
***********Now, then...........if ANYBODY can explain ....thoughts, opiniions, knowledge, experience.....ANYTHING.......it would be greatly appreciated. i asked the pulmonologist, and i just got more confused. she said i can call her back with any questions....but i am afraid of getting even more confused........so i thought i'd ask u guys....... and see his pediatrician. then maybe call cf nurse. all the info i can get. i just wonder if it is still possible he has cf, but maybe it's another mutation not known. he has alot of symptoms. and we do 4-6 nebs a day, 2 pulmocort, 2-4 albuterol depending on cough, singulair, prevacid, 1/2 vitamin(till new bloodwork comes back....checking his vitamin stuff?) clapping too. so i just donno. she says he is definitely a carrier at this time, possible cf later, used the terms atypical and symptomatic......will treat as cf patient, and start further labs today. everything from diabetes to allergies. 5 syringes of blood put into i donno how many vacutainers. i am glad she is taking care of him and being very thorough. i just wanna understand everything that's going on.
clawson5104
New member
<img src="">
*************HELP?????********
got the results.......and i don't get it. his dr. says definitely a carrier......but due to symptoms and med.hx........he will be treated as a cf patient.....?????
thought maybe u guys with experience could tell me in common english.....'cause i dont get 1/2 of this stuff....bear with me......this is what it says....
-AMBIENT CFTR FULL GENE
-KNOWN MUTATIONS: R117H
-NOVEL VARIANTS: NONE DETECTED
-TG/REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
-GROSS DELETIONS/DUPLICATIONS: NONE DETECTED.........
then we have a test saying....
.........IgE--115 (reference range for 1-5yrs old is <60)
then there's a list of "S.PNEUMONIAE TYPE " tests some are in range , i question their meaning and one is Type6B and it's result was 5.7 ---- ref range>1.0
then we have a radiology report for chest PA and Lateral.....
Lung fields are hypoinflated. there is suggestion of mild cardiomegaly which may be related to low lung volumes. both lung fields are hazy in appearance, left slightly greater than right. no dfinite focal consolidation is seen. mild peribronchial cuffing is noted in the central region of the lung fields.
***********Now, then...........if ANYBODY can explain ....thoughts, opiniions, knowledge, experience.....ANYTHING.......it would be greatly appreciated. i asked the pulmonologist, and i just got more confused. she said i can call her back with any questions....but i am afraid of getting even more confused........so i thought i'd ask u guys....... and see his pediatrician. then maybe call cf nurse. all the info i can get. i just wonder if it is still possible he has cf, but maybe it's another mutation not known. he has alot of symptoms. and we do 4-6 nebs a day, 2 pulmocort, 2-4 albuterol depending on cough, singulair, prevacid, 1/2 vitamin(till new bloodwork comes back....checking his vitamin stuff?) clapping too. so i just donno. she says he is definitely a carrier at this time, possible cf later, used the terms atypical and symptomatic......will treat as cf patient, and start further labs today. everything from diabetes to allergies. 5 syringes of blood put into i donno how many vacutainers. i am glad she is taking care of him and being very thorough. i just wanna understand everything that's going on.
*************HELP?????********
got the results.......and i don't get it. his dr. says definitely a carrier......but due to symptoms and med.hx........he will be treated as a cf patient.....?????
thought maybe u guys with experience could tell me in common english.....'cause i dont get 1/2 of this stuff....bear with me......this is what it says....
-AMBIENT CFTR FULL GENE
-KNOWN MUTATIONS: R117H
-NOVEL VARIANTS: NONE DETECTED
-TG/REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
-GROSS DELETIONS/DUPLICATIONS: NONE DETECTED.........
then we have a test saying....
.........IgE--115 (reference range for 1-5yrs old is <60)
then there's a list of "S.PNEUMONIAE TYPE " tests some are in range , i question their meaning and one is Type6B and it's result was 5.7 ---- ref range>1.0
then we have a radiology report for chest PA and Lateral.....
Lung fields are hypoinflated. there is suggestion of mild cardiomegaly which may be related to low lung volumes. both lung fields are hazy in appearance, left slightly greater than right. no dfinite focal consolidation is seen. mild peribronchial cuffing is noted in the central region of the lung fields.
***********Now, then...........if ANYBODY can explain ....thoughts, opiniions, knowledge, experience.....ANYTHING.......it would be greatly appreciated. i asked the pulmonologist, and i just got more confused. she said i can call her back with any questions....but i am afraid of getting even more confused........so i thought i'd ask u guys....... and see his pediatrician. then maybe call cf nurse. all the info i can get. i just wonder if it is still possible he has cf, but maybe it's another mutation not known. he has alot of symptoms. and we do 4-6 nebs a day, 2 pulmocort, 2-4 albuterol depending on cough, singulair, prevacid, 1/2 vitamin(till new bloodwork comes back....checking his vitamin stuff?) clapping too. so i just donno. she says he is definitely a carrier at this time, possible cf later, used the terms atypical and symptomatic......will treat as cf patient, and start further labs today. everything from diabetes to allergies. 5 syringes of blood put into i donno how many vacutainers. i am glad she is taking care of him and being very thorough. i just wanna understand everything that's going on.
M
Mommafirst
Guest
I'm sorry your results are so confusing. I don't really have any answers for you, but I do know there are quite a few people that were diagnosed with one mutation, pos sweat and symptoms. If you read the
ambry thread on the families page (at the very top) you will see the stories of quite a few like yours. I wish I could help you more, I really understand how frustrating this must be!!!
ambry thread on the families page (at the very top) you will see the stories of quite a few like yours. I wish I could help you more, I really understand how frustrating this must be!!!
M
Mommafirst
Guest
I'm sorry your results are so confusing. I don't really have any answers for you, but I do know there are quite a few people that were diagnosed with one mutation, pos sweat and symptoms. If you read the
ambry thread on the families page (at the very top) you will see the stories of quite a few like yours. I wish I could help you more, I really understand how frustrating this must be!!!
ambry thread on the families page (at the very top) you will see the stories of quite a few like yours. I wish I could help you more, I really understand how frustrating this must be!!!
M
Mommafirst
Guest
I'm sorry your results are so confusing. I don't really have any answers for you, but I do know there are quite a few people that were diagnosed with one mutation, pos sweat and symptoms. If you read the
ambry thread on the families page (at the very top) you will see the stories of quite a few like yours. I wish I could help you more, I really understand how frustrating this must be!!!
ambry thread on the families page (at the very top) you will see the stories of quite a few like yours. I wish I could help you more, I really understand how frustrating this must be!!!