New/Looking for Information

leapoffaith

New member
My son (now 3 1/2) has had chronic asthma since he was about 10 months old. Around that time, his doctor had a sweat test performed and it came back negative. Starting in October of last year, my son's asthma flared and ever since then, he's had five hospitalizations for severe asthma exacerbations, along with chronic sinus issues (a sinus infection that never goes away despite constant nasal washes, oral antibiotics, IV antibiotics, etc.). He has had RSV 2x a winter since birth and has had pneumonia several times. He also has mild reflux.

Because we've been dealing with so much in terms of his asthma/sinuses since October, our pediatrician recommended having the full panel CF DNA test done "just to rule it out for sure." Blood was drawn at our local hospital for that test on April 24.

Today, I called our pediatrician's office to check on some things and since I had the nurse on the phone, I asked if the CF test results had come back yet. She hesitated but told me that the "final report" had not come in yet, but they had some preliminary data (received on May 11th) and they'd let us know upon receipt of the "final report." I asked if this was standard procedure and if it always took this long, and the more I pryed, the more hesitant the nurse was to answer.

It finally came out that the pediatrician did not "like the looks of" the first "numbers" that came back and I was told that she requested that the blood be sampled at 1-2 other labs just for the sake of "comparing numbers."

I know nothing about CF and from what I've read online, so many of the symptoms are not typical for my son, although he has a few things that may be. I'm trying to remain as calm as possible until we know something.

I have a few questions:

1. Is this normally how the DNA testing process works? What could the nurse mean that they wanted to "compare numbers?"

2. I was under the impression that each parent must carry a defective CF gene in order for a child to have CF. I remember being tested when I was pregnant with my son for the CF gene (it was fairly new in 2003) and I'm pretty sure I was not a carrier. I brought this up to our pediatrician and she said that those tests are not totally conclusive and it's still possible for my son to have CF.

Thanks, in advance, for your thoughts.

Becky
 

leapoffaith

New member
My son (now 3 1/2) has had chronic asthma since he was about 10 months old. Around that time, his doctor had a sweat test performed and it came back negative. Starting in October of last year, my son's asthma flared and ever since then, he's had five hospitalizations for severe asthma exacerbations, along with chronic sinus issues (a sinus infection that never goes away despite constant nasal washes, oral antibiotics, IV antibiotics, etc.). He has had RSV 2x a winter since birth and has had pneumonia several times. He also has mild reflux.

Because we've been dealing with so much in terms of his asthma/sinuses since October, our pediatrician recommended having the full panel CF DNA test done "just to rule it out for sure." Blood was drawn at our local hospital for that test on April 24.

Today, I called our pediatrician's office to check on some things and since I had the nurse on the phone, I asked if the CF test results had come back yet. She hesitated but told me that the "final report" had not come in yet, but they had some preliminary data (received on May 11th) and they'd let us know upon receipt of the "final report." I asked if this was standard procedure and if it always took this long, and the more I pryed, the more hesitant the nurse was to answer.

It finally came out that the pediatrician did not "like the looks of" the first "numbers" that came back and I was told that she requested that the blood be sampled at 1-2 other labs just for the sake of "comparing numbers."

I know nothing about CF and from what I've read online, so many of the symptoms are not typical for my son, although he has a few things that may be. I'm trying to remain as calm as possible until we know something.

I have a few questions:

1. Is this normally how the DNA testing process works? What could the nurse mean that they wanted to "compare numbers?"

2. I was under the impression that each parent must carry a defective CF gene in order for a child to have CF. I remember being tested when I was pregnant with my son for the CF gene (it was fairly new in 2003) and I'm pretty sure I was not a carrier. I brought this up to our pediatrician and she said that those tests are not totally conclusive and it's still possible for my son to have CF.

Thanks, in advance, for your thoughts.

Becky
 

leapoffaith

New member
My son (now 3 1/2) has had chronic asthma since he was about 10 months old. Around that time, his doctor had a sweat test performed and it came back negative. Starting in October of last year, my son's asthma flared and ever since then, he's had five hospitalizations for severe asthma exacerbations, along with chronic sinus issues (a sinus infection that never goes away despite constant nasal washes, oral antibiotics, IV antibiotics, etc.). He has had RSV 2x a winter since birth and has had pneumonia several times. He also has mild reflux.

Because we've been dealing with so much in terms of his asthma/sinuses since October, our pediatrician recommended having the full panel CF DNA test done "just to rule it out for sure." Blood was drawn at our local hospital for that test on April 24.

Today, I called our pediatrician's office to check on some things and since I had the nurse on the phone, I asked if the CF test results had come back yet. She hesitated but told me that the "final report" had not come in yet, but they had some preliminary data (received on May 11th) and they'd let us know upon receipt of the "final report." I asked if this was standard procedure and if it always took this long, and the more I pryed, the more hesitant the nurse was to answer.

It finally came out that the pediatrician did not "like the looks of" the first "numbers" that came back and I was told that she requested that the blood be sampled at 1-2 other labs just for the sake of "comparing numbers."

I know nothing about CF and from what I've read online, so many of the symptoms are not typical for my son, although he has a few things that may be. I'm trying to remain as calm as possible until we know something.

I have a few questions:

1. Is this normally how the DNA testing process works? What could the nurse mean that they wanted to "compare numbers?"

2. I was under the impression that each parent must carry a defective CF gene in order for a child to have CF. I remember being tested when I was pregnant with my son for the CF gene (it was fairly new in 2003) and I'm pretty sure I was not a carrier. I brought this up to our pediatrician and she said that those tests are not totally conclusive and it's still possible for my son to have CF.

Thanks, in advance, for your thoughts.

Becky
 

JORDYSMOM

New member
Becky,

My son was dx at 15, because his symptoms were not as severe as typical CF patients show. He was dx with asthma when 5 and we were told it would get better as he grew. It didn't - it worsened. He started having trouble with acid reflux and trouble gaining weight-poor appetite etc. More and more trips to ER for breathing problems etc. We were sent to a pulmonologist before a major spine surgery that he needed to correct sherman's kyphosis, and the pulm is the one who sent us for the CF tests (sweat and then dna). I think that there are more mutations of CF than anyone originally thought. My older son was tested due to the findings on his brother and he is a carrier. It's not always black and white with this tricky disease. You may need to be pushy with the doc - I don't know what they mean by comparing labs. If they doubt the first lab why did they send the dna there in the first place? I found the people at Ambry Genetics very helpful and we got our results with no hassles like you have described. I hope you receive good news.

Stacey
 

JORDYSMOM

New member
Becky,

My son was dx at 15, because his symptoms were not as severe as typical CF patients show. He was dx with asthma when 5 and we were told it would get better as he grew. It didn't - it worsened. He started having trouble with acid reflux and trouble gaining weight-poor appetite etc. More and more trips to ER for breathing problems etc. We were sent to a pulmonologist before a major spine surgery that he needed to correct sherman's kyphosis, and the pulm is the one who sent us for the CF tests (sweat and then dna). I think that there are more mutations of CF than anyone originally thought. My older son was tested due to the findings on his brother and he is a carrier. It's not always black and white with this tricky disease. You may need to be pushy with the doc - I don't know what they mean by comparing labs. If they doubt the first lab why did they send the dna there in the first place? I found the people at Ambry Genetics very helpful and we got our results with no hassles like you have described. I hope you receive good news.

Stacey
 

JORDYSMOM

New member
Becky,

My son was dx at 15, because his symptoms were not as severe as typical CF patients show. He was dx with asthma when 5 and we were told it would get better as he grew. It didn't - it worsened. He started having trouble with acid reflux and trouble gaining weight-poor appetite etc. More and more trips to ER for breathing problems etc. We were sent to a pulmonologist before a major spine surgery that he needed to correct sherman's kyphosis, and the pulm is the one who sent us for the CF tests (sweat and then dna). I think that there are more mutations of CF than anyone originally thought. My older son was tested due to the findings on his brother and he is a carrier. It's not always black and white with this tricky disease. You may need to be pushy with the doc - I don't know what they mean by comparing labs. If they doubt the first lab why did they send the dna there in the first place? I found the people at Ambry Genetics very helpful and we got our results with no hassles like you have described. I hope you receive good news.

Stacey
 

amber682

New member
I've never heard of comparing numbers at different labs either. But as far as you not being a carrier, the doctor is right, those tests are not very conclusive. They normally only test for the most common CF mutations, about 32 out of over 1400 known mutations. So it's possible you are a carrier.

It is a good thing that they're taking this seriously and did the DNA test. I've seen so many parents on here with sick kids, and doctors who refuse to do more testing, thinking CF is just not a possibility. And sweat tests are not very reliable. While they can help to confirm a CF diagnosis, because they rarely have a false positive, they shouldn't be used to rule out CF in my opinion, because they OFTEN have false negatives, or a person has normal numbers, but still has CF.

I hope you get your answers soon, limbo is the worst place to be. Atleast if they do tell you your child has CF, they'll be able to start him on the right meds, and get him healthy and hopefully not spending so much time in the hospital. Just remeber there are a lot of new CF meds out there, or still being researched, that are helping tremendously. Let us know how it goes.
 

amber682

New member
I've never heard of comparing numbers at different labs either. But as far as you not being a carrier, the doctor is right, those tests are not very conclusive. They normally only test for the most common CF mutations, about 32 out of over 1400 known mutations. So it's possible you are a carrier.

It is a good thing that they're taking this seriously and did the DNA test. I've seen so many parents on here with sick kids, and doctors who refuse to do more testing, thinking CF is just not a possibility. And sweat tests are not very reliable. While they can help to confirm a CF diagnosis, because they rarely have a false positive, they shouldn't be used to rule out CF in my opinion, because they OFTEN have false negatives, or a person has normal numbers, but still has CF.

I hope you get your answers soon, limbo is the worst place to be. Atleast if they do tell you your child has CF, they'll be able to start him on the right meds, and get him healthy and hopefully not spending so much time in the hospital. Just remeber there are a lot of new CF meds out there, or still being researched, that are helping tremendously. Let us know how it goes.
 

amber682

New member
I've never heard of comparing numbers at different labs either. But as far as you not being a carrier, the doctor is right, those tests are not very conclusive. They normally only test for the most common CF mutations, about 32 out of over 1400 known mutations. So it's possible you are a carrier.

It is a good thing that they're taking this seriously and did the DNA test. I've seen so many parents on here with sick kids, and doctors who refuse to do more testing, thinking CF is just not a possibility. And sweat tests are not very reliable. While they can help to confirm a CF diagnosis, because they rarely have a false positive, they shouldn't be used to rule out CF in my opinion, because they OFTEN have false negatives, or a person has normal numbers, but still has CF.

I hope you get your answers soon, limbo is the worst place to be. Atleast if they do tell you your child has CF, they'll be able to start him on the right meds, and get him healthy and hopefully not spending so much time in the hospital. Just remeber there are a lot of new CF meds out there, or still being researched, that are helping tremendously. Let us know how it goes.
 

Mockingbird

New member
By compare numbers I think your doctor just wants to verify the information from the first lab is accurate. When the doctor said he did not like the looks of the first lab, that could mean the first lab's results did not make any sense to him, or that the results showed signs of CF and the doctor wants to make sure before he gives you an official diagnosis. Hopefully it is the former and the other two labs will not show CF.

At any rate, it sounds like you have a pretty good doctor.
 

Mockingbird

New member
By compare numbers I think your doctor just wants to verify the information from the first lab is accurate. When the doctor said he did not like the looks of the first lab, that could mean the first lab's results did not make any sense to him, or that the results showed signs of CF and the doctor wants to make sure before he gives you an official diagnosis. Hopefully it is the former and the other two labs will not show CF.

At any rate, it sounds like you have a pretty good doctor.
 

Mockingbird

New member
By compare numbers I think your doctor just wants to verify the information from the first lab is accurate. When the doctor said he did not like the looks of the first lab, that could mean the first lab's results did not make any sense to him, or that the results showed signs of CF and the doctor wants to make sure before he gives you an official diagnosis. Hopefully it is the former and the other two labs will not show CF.

At any rate, it sounds like you have a pretty good doctor.
 
Top