Question about Diagnosis

Shavon

New member
Hi.. I posted a message regarding my son Garrett. The allergist called today and said that his IgA levels were low and he tested borderline low for cf. I am waiting for my pediatrician to call back with her advice. The allergist suggested going to New Orleans Children's hospital. We live in Louisiana. She suggested going there to see an immunologist and also a pulminologist...sorry about spelling. She said that they would do the test over. They have better labs there. I know nothing about cf. What am I looking at and what does this all mean? Anyone who can tell me about cf I would greatly appreciate it and what does borderline low mean? Is it better than high or what is all this.
Thanks,
Shavon
 

Shavon

New member
Hi.. I posted a message regarding my son Garrett. The allergist called today and said that his IgA levels were low and he tested borderline low for cf. I am waiting for my pediatrician to call back with her advice. The allergist suggested going to New Orleans Children's hospital. We live in Louisiana. She suggested going there to see an immunologist and also a pulminologist...sorry about spelling. She said that they would do the test over. They have better labs there. I know nothing about cf. What am I looking at and what does this all mean? Anyone who can tell me about cf I would greatly appreciate it and what does borderline low mean? Is it better than high or what is all this.
Thanks,
Shavon
 

Alyssa

New member
Are you the person that posted anonymously on Jan 28th and said you had the 4 year old with the sweat test of 45 and 46?

I'm going to assume yes is the answer. You can look at the post I listed later that day under it about sweat test "borderline" numbers -- basically you should still be cautious when a doctor says borderline because I have living proof that people with CF can have very low borderline and even "normal" numbers and still have two known CF genes.

39 and below is normal
40-60 is borderline
61 & up is positive for CF

Genetic blood tests have confirmed my kids both have Delta F508 & R117H gene mutations. Their sweat test numbers are 38 and 41. Write this information down and show it to your doctor.

Keep pursuing the most thorough genetic testing (there area several different test -- some look for far more genes than others -- ask what test you are getting and if it will look for ALL known gene types)

CF effects people differently -- there is no way to tell you exactly what to expect -- some things many people experience, others never have a problem with, some people have much better health than others, some people go for years without needing a single hospital stay, others are there every couple of months -- however there are some GENERAL COMMON PROBLEMS that many people experience such as:

Lung infections -- needing one or more of the following: oral antibiotics, IV antibiotics, inhaled antibiotics.

Excess lung mucus/cough

Airway clearance needed-- use of a some form of lung vibration to help clear out the extra mucus -- a vest (machine that fills a vest with air to vibrate the torso), flutter or acapella (small plastic "pipe" looking things) or manual chest physical therapy (the parent uses their hands to pound on the torso -- but in a loving way <img src="i/expressions/face-icon-small-smile.gif" border="0">

Digestive/weight gain issues -- many people have problems with the pancreas and are unable to get the enzymes into the digestive track via the "normal" way so they have to take the enzymes (pills) with most foods/meals so the nutrients can get absorbed.

Liver issues -- I am not familiar with this, but I think others have discussed this -- I'm not sure if it is directly related to the CF or a secondary problem that develops because of the use of many CF related drugs for many years???

Infertility in both men and women, however more prominent in the men.

If you have found this site you have done a good job at taping into a lot of information -- you should start a new thread with a new topic that describes your specific question -- you will get more results/info from others -- also keep searching the internet for information but keep in mind a lot of it sounds worse than it really is -- things are changing for treatment and many lives are being extended with better quality of living now -- much of the information is out dated and/or just not accurate for a more mild case of CF.

Hope this info helps -- keep at it until you know for sure what the diagnosis is -- just like the other woman posted about her child -- the doctors cannot say for sure if it is CF or not but they will treat it like it is until they know otherwise -- this usually is the best way to go about it because the children usually get much better care and treatment.
 

Alyssa

New member
Are you the person that posted anonymously on Jan 28th and said you had the 4 year old with the sweat test of 45 and 46?

I'm going to assume yes is the answer. You can look at the post I listed later that day under it about sweat test "borderline" numbers -- basically you should still be cautious when a doctor says borderline because I have living proof that people with CF can have very low borderline and even "normal" numbers and still have two known CF genes.

39 and below is normal
40-60 is borderline
61 & up is positive for CF

Genetic blood tests have confirmed my kids both have Delta F508 & R117H gene mutations. Their sweat test numbers are 38 and 41. Write this information down and show it to your doctor.

Keep pursuing the most thorough genetic testing (there area several different test -- some look for far more genes than others -- ask what test you are getting and if it will look for ALL known gene types)

CF effects people differently -- there is no way to tell you exactly what to expect -- some things many people experience, others never have a problem with, some people have much better health than others, some people go for years without needing a single hospital stay, others are there every couple of months -- however there are some GENERAL COMMON PROBLEMS that many people experience such as:

Lung infections -- needing one or more of the following: oral antibiotics, IV antibiotics, inhaled antibiotics.

Excess lung mucus/cough

Airway clearance needed-- use of a some form of lung vibration to help clear out the extra mucus -- a vest (machine that fills a vest with air to vibrate the torso), flutter or acapella (small plastic "pipe" looking things) or manual chest physical therapy (the parent uses their hands to pound on the torso -- but in a loving way <img src="i/expressions/face-icon-small-smile.gif" border="0">

Digestive/weight gain issues -- many people have problems with the pancreas and are unable to get the enzymes into the digestive track via the "normal" way so they have to take the enzymes (pills) with most foods/meals so the nutrients can get absorbed.

Liver issues -- I am not familiar with this, but I think others have discussed this -- I'm not sure if it is directly related to the CF or a secondary problem that develops because of the use of many CF related drugs for many years???

Infertility in both men and women, however more prominent in the men.

If you have found this site you have done a good job at taping into a lot of information -- you should start a new thread with a new topic that describes your specific question -- you will get more results/info from others -- also keep searching the internet for information but keep in mind a lot of it sounds worse than it really is -- things are changing for treatment and many lives are being extended with better quality of living now -- much of the information is out dated and/or just not accurate for a more mild case of CF.

Hope this info helps -- keep at it until you know for sure what the diagnosis is -- just like the other woman posted about her child -- the doctors cannot say for sure if it is CF or not but they will treat it like it is until they know otherwise -- this usually is the best way to go about it because the children usually get much better care and treatment.
 

anonymous

New member
This happened to my sister, her sweat test was elevated but the others weren't....the only thing that convinced them was because I had been diagnosed with it before she was born. I would get a second opinion.
 

anonymous

New member
This happened to my sister, her sweat test was elevated but the others weren't....the only thing that convinced them was because I had been diagnosed with it before she was born. I would get a second opinion.
 

Alyssa

New member
I forgot about a couple other things that can happen in people with CF -- that is

Intestinal Blockages

Sinus infections

Also yes yes yes follow through with the Childrens Hospital in New Orleans -- they are probably a CF clinic and are more familiar with CF than the other doctor you are seeing. It is very good that they recommended you go there. You should get better information there.

Best of luck
 

Alyssa

New member
I forgot about a couple other things that can happen in people with CF -- that is

Intestinal Blockages

Sinus infections

Also yes yes yes follow through with the Childrens Hospital in New Orleans -- they are probably a CF clinic and are more familiar with CF than the other doctor you are seeing. It is very good that they recommended you go there. You should get better information there.

Best of luck
 

debs2girls

New member
Jenny, I know how frustrating it is...my daughter is also in the gray area. I get very aggrivated about it...too..her dr told us when we first met him that even if we ran into the gray area, you have to take into account the phenotypes...out of I think 8, she has 7...plus two borderline sweat tests and one known mutation 3120 + 1 G to A...she also had two possitive sweat test and one negative...
I hope you get answers and help soon....
Debbie
 

debs2girls

New member
Jenny, I know how frustrating it is...my daughter is also in the gray area. I get very aggrivated about it...too..her dr told us when we first met him that even if we ran into the gray area, you have to take into account the phenotypes...out of I think 8, she has 7...plus two borderline sweat tests and one known mutation 3120 + 1 G to A...she also had two possitive sweat test and one negative...
I hope you get answers and help soon....
Debbie
 

Shavon

New member
Alyssa,
I just wanted to let you know how thankful I am for your information. I have spent hours on the internet looking for information on cf but there is so much out there and some of it is very confusing. My husband is on his way home with the actually counts of Garrett's test. The doctor made a copy of the testing for us to have. I will for sure go to New Orleans. In fact our appt. is Feb. 16. I am so glad they were able to get us in pretty quick. The Children's Hospital is suppossed to be a number 1 hospital in Louisiana so I am praying that is so and we will get all the test and results there. Again thank you for your time and I appreciate talking with someone who has been through this, it helps so much. I will post the test results later. Thank you very much!
Shavon

Garrett & Kyla's mom
 

Shavon

New member
Alyssa,
I just wanted to let you know how thankful I am for your information. I have spent hours on the internet looking for information on cf but there is so much out there and some of it is very confusing. My husband is on his way home with the actually counts of Garrett's test. The doctor made a copy of the testing for us to have. I will for sure go to New Orleans. In fact our appt. is Feb. 16. I am so glad they were able to get us in pretty quick. The Children's Hospital is suppossed to be a number 1 hospital in Louisiana so I am praying that is so and we will get all the test and results there. Again thank you for your time and I appreciate talking with someone who has been through this, it helps so much. I will post the test results later. Thank you very much!
Shavon

Garrett & Kyla's mom
 

anonymous

New member
Shavon, you can find some very good basic CF in at www.cff.org You will want to surf the entire site (which is huge). I am sure many of us will be looking for an update from you in Feb.

Best Wishes!

PS How are things at the hospital in New Orleans (I mean since Katrina)? Is it fully functional now?
 

anonymous

New member
Shavon, you can find some very good basic CF in at www.cff.org You will want to surf the entire site (which is huge). I am sure many of us will be looking for an update from you in Feb.

Best Wishes!

PS How are things at the hospital in New Orleans (I mean since Katrina)? Is it fully functional now?
 

anonymous

New member
Just wanted to share my frustration with borderline sweat test. My son (5 months old) was diagnosed through new born screening and has 2 known genes (W1282X and R117H). His first sweat test was 35 and his second was 45. We are being treated at a care center in Brooklyn, and the doctor has essentially told us that because of the genetics they would treat him for CF regardless of the sweat test score. My issue has been - what does borderline mean? From everything I've read, borderline doesn't seem to necessarily mean a milder form of CF or later onset of symptoms. To the person who posted that they've tested borderline - get to a CF care center, and get genetic testing done. As frustating as the borderline numbers are, once you start treatments, at least you can feel you are doing something.
 

anonymous

New member
Just wanted to share my frustration with borderline sweat test. My son (5 months old) was diagnosed through new born screening and has 2 known genes (W1282X and R117H). His first sweat test was 35 and his second was 45. We are being treated at a care center in Brooklyn, and the doctor has essentially told us that because of the genetics they would treat him for CF regardless of the sweat test score. My issue has been - what does borderline mean? From everything I've read, borderline doesn't seem to necessarily mean a milder form of CF or later onset of symptoms. To the person who posted that they've tested borderline - get to a CF care center, and get genetic testing done. As frustating as the borderline numbers are, once you start treatments, at least you can feel you are doing something.
 

imondeck

New member
Our problem/frustration is just the opposite of yours - my son has had 2 positive sweat tests, 1 borderline, a genzyme blood analysis and an Ambry extended anyalysis with no mutations found.

He goes back to the pulmo (who once was the CF director at the clinic in Ok. City) later this month. We have not had a full diagnosis yet, although his doc's opinion is on the positive for CF. All of this not knowing for sure is very frustrating to say the least.....
 

imondeck

New member
Our problem/frustration is just the opposite of yours - my son has had 2 positive sweat tests, 1 borderline, a genzyme blood analysis and an Ambry extended anyalysis with no mutations found.

He goes back to the pulmo (who once was the CF director at the clinic in Ok. City) later this month. We have not had a full diagnosis yet, although his doc's opinion is on the positive for CF. All of this not knowing for sure is very frustrating to say the least.....
 

anonymous

New member
Actually , I am the mother of the 4 year old and my name is Sherayna. I was just reading through all the posts and I really appreciate the extra info that you have been providing. He still has problems and I have one more symptom to add to the mix... 6 times in the last 2 weeks and 2 in the last 2 days he has wokien up with "blue lips" and it isn't not from the cold... my house is actually quite warm. Has anyone (with or without CF) had this problem? The confusing thing is that it is not accompanied by lethargy or any of the other symptoms that you would expect of low oxygen or poor circulation , just the blue lips--- and it takes about 45 min to 90 min to go away. I am going to take him to the doctor's again today because they feel that it is not normal (HELLO I figured that out a while ago...Lol). I got his blood tests done last week with no results yet. However . I found out that his stool cultures came back positive for a bacterium associated with pinworms(!!!!!). I have yet to figure out how this is possible.... for those parents of kids with CF , have their stools ever shown up with strange bacteria that you had no idea of where it came from??? Thanks in advance for any info that you have... from Sherayna and Stephen<img src="i/expressions/face-icon-small-smile.gif" border="0"><img src="i/expressions/face-icon-small-shocked.gif" border="0">
 

anonymous

New member
Actually , I am the mother of the 4 year old and my name is Sherayna. I was just reading through all the posts and I really appreciate the extra info that you have been providing. He still has problems and I have one more symptom to add to the mix... 6 times in the last 2 weeks and 2 in the last 2 days he has wokien up with "blue lips" and it isn't not from the cold... my house is actually quite warm. Has anyone (with or without CF) had this problem? The confusing thing is that it is not accompanied by lethargy or any of the other symptoms that you would expect of low oxygen or poor circulation , just the blue lips--- and it takes about 45 min to 90 min to go away. I am going to take him to the doctor's again today because they feel that it is not normal (HELLO I figured that out a while ago...Lol). I got his blood tests done last week with no results yet. However . I found out that his stool cultures came back positive for a bacterium associated with pinworms(!!!!!). I have yet to figure out how this is possible.... for those parents of kids with CF , have their stools ever shown up with strange bacteria that you had no idea of where it came from??? Thanks in advance for any info that you have... from Sherayna and Stephen<img src="i/expressions/face-icon-small-smile.gif" border="0"><img src="i/expressions/face-icon-small-shocked.gif" border="0">
 
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