Seeking some advice

M

MaeFlower

New member
I am new to this CF forum, so I hope I am doing this right. I will begin by stating my Vivien has not been diagnosed as of yet with anything other than "failure to thrive, laryngomalacia & GERD." However, I would like to give you all a brief history and ask your thoughts, seeing as you all know first hand what the symptoms of CF are & how different they can be from person to person.
Vivien was born (8lbs.14oz) with a "squeak" in her voice & had fluid on her lungs & at 2months was diagnosed w/ a mild-moderate form of Laryngomalacia. She was slightly jaundiced when we went home & her bilirubin levels continued to increase over the next 3-4wks (15). I breastfed & she was constantly fussy & had a difficult time eating. After acid reflux meds didn't work and she was still at her birth weight at 2months, her doctor sent us to a Children's hospital 2hrs from our hometown. Upon arrival, they placed her on a ng-tube & higher calorie elemental formula. She continued to reflux so a tp-tube was placed further into her intestines. Several swallow studies showed aspiration. While at Children's she developed Staph in her bloodstream & had a chest xray that showed pneumonia. Another upper GI showed severe GERD & she had a Nissen Fundoplication (surgery for GERD) & a g-tube placed. After surgery, she continued to scream & cry during oral feeds & before and/or after BMs. Once we got home I noticed Vivi had bad breath & started coughing again. At a follow-up w/ her surgeon he ordered an x-ray. Sure enough Vivi had pneumonia again. They did a swallow study which did not show aspiration & sent us home saying it was probably viral, so no antibiotics. Her pediatrician ordered a sweat test, it came back borderline 44. We went to pulmonologist who ran a CF mutation Panel (that only checks the most common forms of CF) it came back negative. He ordered another swallow study that did show aspiration, so they don't want her on oral feeds for 3wks. Yet Vivi still screams often with gas (foul smelling) & also before/after BMs. She sweats frequently too (that tastes salty, but she doesn't taste salty all the time). In the last 3days she has coughed a few times as well.
Another sweat test is scheduled for Sept.21, but the Pulmonologist said that he felt as if she did not have it because they checked the most popular mutations for Caucasians & her newborn screen was normal as well.

So my questions are; does her story sound anything like any one you know? Should I push harder for a full panel test even if this test showed she was not even a CF carrier?

I know the information is long & I thank a few of you who I have already asked about this. I appreciate any & all of your thoughts/opinions.

Julie - mother of 4month old Vivien Mae-tested borderline for CF
 
M

MaeFlower

New member
I am new to this CF forum, so I hope I am doing this right. I will begin by stating my Vivien has not been diagnosed as of yet with anything other than "failure to thrive, laryngomalacia & GERD." However, I would like to give you all a brief history and ask your thoughts, seeing as you all know first hand what the symptoms of CF are & how different they can be from person to person.
Vivien was born (8lbs.14oz) with a "squeak" in her voice & had fluid on her lungs & at 2months was diagnosed w/ a mild-moderate form of Laryngomalacia. She was slightly jaundiced when we went home & her bilirubin levels continued to increase over the next 3-4wks (15). I breastfed & she was constantly fussy & had a difficult time eating. After acid reflux meds didn't work and she was still at her birth weight at 2months, her doctor sent us to a Children's hospital 2hrs from our hometown. Upon arrival, they placed her on a ng-tube & higher calorie elemental formula. She continued to reflux so a tp-tube was placed further into her intestines. Several swallow studies showed aspiration. While at Children's she developed Staph in her bloodstream & had a chest xray that showed pneumonia. Another upper GI showed severe GERD & she had a Nissen Fundoplication (surgery for GERD) & a g-tube placed. After surgery, she continued to scream & cry during oral feeds & before and/or after BMs. Once we got home I noticed Vivi had bad breath & started coughing again. At a follow-up w/ her surgeon he ordered an x-ray. Sure enough Vivi had pneumonia again. They did a swallow study which did not show aspiration & sent us home saying it was probably viral, so no antibiotics. Her pediatrician ordered a sweat test, it came back borderline 44. We went to pulmonologist who ran a CF mutation Panel (that only checks the most common forms of CF) it came back negative. He ordered another swallow study that did show aspiration, so they don't want her on oral feeds for 3wks. Yet Vivi still screams often with gas (foul smelling) & also before/after BMs. She sweats frequently too (that tastes salty, but she doesn't taste salty all the time). In the last 3days she has coughed a few times as well.
Another sweat test is scheduled for Sept.21, but the Pulmonologist said that he felt as if she did not have it because they checked the most popular mutations for Caucasians & her newborn screen was normal as well.

So my questions are; does her story sound anything like any one you know? Should I push harder for a full panel test even if this test showed she was not even a CF carrier?

I know the information is long & I thank a few of you who I have already asked about this. I appreciate any & all of your thoughts/opinions.

Julie - mother of 4month old Vivien Mae-tested borderline for CF
 
M

MaeFlower

New member
I am new to this CF forum, so I hope I am doing this right. I will begin by stating my Vivien has not been diagnosed as of yet with anything other than "failure to thrive, laryngomalacia & GERD." However, I would like to give you all a brief history and ask your thoughts, seeing as you all know first hand what the symptoms of CF are & how different they can be from person to person.
<br />Vivien was born (8lbs.14oz) with a "squeak" in her voice & had fluid on her lungs & at 2months was diagnosed w/ a mild-moderate form of Laryngomalacia. She was slightly jaundiced when we went home & her bilirubin levels continued to increase over the next 3-4wks (15). I breastfed & she was constantly fussy & had a difficult time eating. After acid reflux meds didn't work and she was still at her birth weight at 2months, her doctor sent us to a Children's hospital 2hrs from our hometown. Upon arrival, they placed her on a ng-tube & higher calorie elemental formula. She continued to reflux so a tp-tube was placed further into her intestines. Several swallow studies showed aspiration. While at Children's she developed Staph in her bloodstream & had a chest xray that showed pneumonia. Another upper GI showed severe GERD & she had a Nissen Fundoplication (surgery for GERD) & a g-tube placed. After surgery, she continued to scream & cry during oral feeds & before and/or after BMs. Once we got home I noticed Vivi had bad breath & started coughing again. At a follow-up w/ her surgeon he ordered an x-ray. Sure enough Vivi had pneumonia again. They did a swallow study which did not show aspiration & sent us home saying it was probably viral, so no antibiotics. Her pediatrician ordered a sweat test, it came back borderline 44. We went to pulmonologist who ran a CF mutation Panel (that only checks the most common forms of CF) it came back negative. He ordered another swallow study that did show aspiration, so they don't want her on oral feeds for 3wks. Yet Vivi still screams often with gas (foul smelling) & also before/after BMs. She sweats frequently too (that tastes salty, but she doesn't taste salty all the time). In the last 3days she has coughed a few times as well.
<br />Another sweat test is scheduled for Sept.21, but the Pulmonologist said that he felt as if she did not have it because they checked the most popular mutations for Caucasians & her newborn screen was normal as well.
<br />
<br />So my questions are; does her story sound anything like any one you know? Should I push harder for a full panel test even if this test showed she was not even a CF carrier?
<br />
<br />I know the information is long & I thank a few of you who I have already asked about this. I appreciate any & all of your thoughts/opinions.
<br />
<br />Julie - mother of 4month old Vivien Mae-tested borderline for CF
 
K

ktsmom

New member
Welcome to the forums. You will find help and support here. I am sorry for the tough road that you and Vivien have traveled so far.

I can't speak to the laryngomalacia and the jaundice. However, I feel very strongly that a failure to thrive 4 month old with two episodes of pneumonia, GERD, and a borderline sweat test would be a candidate for the full CF genetic testing. It feels strange sometimes to suggest that parents push back at their medical professionals and I don't do it lightly. But I have my own personal experiences and I continue to do a lot of research.

Our daughter was referred for a sweat test based only on chronic malabsorption issues at age 3. Although we had to push for testing, we were "lucky" that her sweat test values were over 100 and she has the most common mutation so test results were unquestionable. HOWEVER - I do know that within the CF community, CF CAN be diagnosed based on clinical presentation alone even if just one mutation has been found. This is a standard that I have found described in professional journals. I just don't think that all medical professionals have a reason to be that much up-to-speed on CF.

Well this turned out longer than I thought. Just please have hope and know that we will support you however we can!
 
K

ktsmom

New member
Welcome to the forums. You will find help and support here. I am sorry for the tough road that you and Vivien have traveled so far.

I can't speak to the laryngomalacia and the jaundice. However, I feel very strongly that a failure to thrive 4 month old with two episodes of pneumonia, GERD, and a borderline sweat test would be a candidate for the full CF genetic testing. It feels strange sometimes to suggest that parents push back at their medical professionals and I don't do it lightly. But I have my own personal experiences and I continue to do a lot of research.

Our daughter was referred for a sweat test based only on chronic malabsorption issues at age 3. Although we had to push for testing, we were "lucky" that her sweat test values were over 100 and she has the most common mutation so test results were unquestionable. HOWEVER - I do know that within the CF community, CF CAN be diagnosed based on clinical presentation alone even if just one mutation has been found. This is a standard that I have found described in professional journals. I just don't think that all medical professionals have a reason to be that much up-to-speed on CF.

Well this turned out longer than I thought. Just please have hope and know that we will support you however we can!
 
K

ktsmom

New member
Welcome to the forums. You will find help and support here. I am sorry for the tough road that you and Vivien have traveled so far.
<br />
<br />I can't speak to the laryngomalacia and the jaundice. However, I feel very strongly that a failure to thrive 4 month old with two episodes of pneumonia, GERD, and a borderline sweat test would be a candidate for the full CF genetic testing. It feels strange sometimes to suggest that parents push back at their medical professionals and I don't do it lightly. But I have my own personal experiences and I continue to do a lot of research.
<br />
<br />Our daughter was referred for a sweat test based only on chronic malabsorption issues at age 3. Although we had to push for testing, we were "lucky" that her sweat test values were over 100 and she has the most common mutation so test results were unquestionable. HOWEVER - I do know that within the CF community, CF CAN be diagnosed based on clinical presentation alone even if just one mutation has been found. This is a standard that I have found described in professional journals. I just don't think that all medical professionals have a reason to be that much up-to-speed on CF.
<br />
<br />Well this turned out longer than I thought. Just please have hope and know that we will support you however we can!
 
C

Cherylwithone

Guest
I am hoping it is not CF but, if it is you want to be on top of it from the start. I would ask for the full panel by Ambrey. My daughter does not have common mutations and if the general panel was done it would not have come up with anything. Her sweat levels came back high twice.

From what you say it sure does sound like CF. My daughter was a big baby at birth and then it went down hill from there. She was not on a growth chart until the last couple of years and still at 17 she is only at 25%.

Go with your heart is telling you and push for more testing.
There are alot of moms on here that their children had low numbers on the sweat test yet their kids have very common mutations.

I wish you luck and welcome to this site. Alot of great people here who are willing to help.
 
C

Cherylwithone

Guest
I am hoping it is not CF but, if it is you want to be on top of it from the start. I would ask for the full panel by Ambrey. My daughter does not have common mutations and if the general panel was done it would not have come up with anything. Her sweat levels came back high twice.

From what you say it sure does sound like CF. My daughter was a big baby at birth and then it went down hill from there. She was not on a growth chart until the last couple of years and still at 17 she is only at 25%.

Go with your heart is telling you and push for more testing.
There are alot of moms on here that their children had low numbers on the sweat test yet their kids have very common mutations.

I wish you luck and welcome to this site. Alot of great people here who are willing to help.
 
C

Cherylwithone

Guest
I am hoping it is not CF but, if it is you want to be on top of it from the start. I would ask for the full panel by Ambrey. My daughter does not have common mutations and if the general panel was done it would not have come up with anything. Her sweat levels came back high twice.
<br />
<br />From what you say it sure does sound like CF. My daughter was a big baby at birth and then it went down hill from there. She was not on a growth chart until the last couple of years and still at 17 she is only at 25%.
<br />
<br />Go with your heart is telling you and push for more testing.
<br />There are alot of moms on here that their children had low numbers on the sweat test yet their kids have very common mutations.
<br />
<br />I wish you luck and welcome to this site. Alot of great people here who are willing to help.
 
M

MaeFlower

New member
Thank you ladies. Vivi is gaining weight now, but I say it has to do with the fact that she is on 16 hours of continuous feeds through her G-tube. She had surgery that wont allow her to vomit, so she must keep the food in & digest it. I am assuming because she is gaining weight she may not have an absorption issue (not sure about this though). We are not scheduled with a GI specialist until January...the local hospital lost one of the three specialist it had, so it's difficult to get an appointment.
The genetic testing was sent to the Mayo Clinic & they ran the Amplified test I believe. Which only checks for the 100 most common mutations & they checked to see if she was a carrier. That came back negative.
Is there a difference between the Ambry and the full Mayo Clinic panel test? Does it mean that because she did not test to be a carrier, she doesn't have CF, or could she be a carrier of a less common mutation? Not sure how the carrier thing works. Oh, and the Pulmonologist said that they could repeat the sweat test & it could come back negative/low, could this be true? Or if she was borderline once(she wasn't malnourished when she was tested, tested @ 3months), will she always be either borderline or positive?

Thank you so much for your support, encouragement & wisdom.
julie- Mohter of Vivien Mae - tested borderline for CF
 
M

MaeFlower

New member
Thank you ladies. Vivi is gaining weight now, but I say it has to do with the fact that she is on 16 hours of continuous feeds through her G-tube. She had surgery that wont allow her to vomit, so she must keep the food in & digest it. I am assuming because she is gaining weight she may not have an absorption issue (not sure about this though). We are not scheduled with a GI specialist until January...the local hospital lost one of the three specialist it had, so it's difficult to get an appointment.
The genetic testing was sent to the Mayo Clinic & they ran the Amplified test I believe. Which only checks for the 100 most common mutations & they checked to see if she was a carrier. That came back negative.
Is there a difference between the Ambry and the full Mayo Clinic panel test? Does it mean that because she did not test to be a carrier, she doesn't have CF, or could she be a carrier of a less common mutation? Not sure how the carrier thing works. Oh, and the Pulmonologist said that they could repeat the sweat test & it could come back negative/low, could this be true? Or if she was borderline once(she wasn't malnourished when she was tested, tested @ 3months), will she always be either borderline or positive?

Thank you so much for your support, encouragement & wisdom.
julie- Mohter of Vivien Mae - tested borderline for CF
 
M

MaeFlower

New member
Thank you ladies. Vivi is gaining weight now, but I say it has to do with the fact that she is on 16 hours of continuous feeds through her G-tube. She had surgery that wont allow her to vomit, so she must keep the food in & digest it. I am assuming because she is gaining weight she may not have an absorption issue (not sure about this though). We are not scheduled with a GI specialist until January...the local hospital lost one of the three specialist it had, so it's difficult to get an appointment.
<br />The genetic testing was sent to the Mayo Clinic & they ran the Amplified test I believe. Which only checks for the 100 most common mutations & they checked to see if she was a carrier. That came back negative.
<br />Is there a difference between the Ambry and the full Mayo Clinic panel test? Does it mean that because she did not test to be a carrier, she doesn't have CF, or could she be a carrier of a less common mutation? Not sure how the carrier thing works. Oh, and the Pulmonologist said that they could repeat the sweat test & it could come back negative/low, could this be true? Or if she was borderline once(she wasn't malnourished when she was tested, tested @ 3months), will she always be either borderline or positive?
<br />
<br />Thank you so much for your support, encouragement & wisdom.
<br />julie- Mohter of Vivien Mae - tested borderline for CF
 
K

ktsmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>MaeFlower</b></i>

The genetic testing was sent to the Mayo Clinic & they ran the Amplified test I believe. Which only checks for the 100 most common mutations & they checked to see if she was a carrier. That came back negative.

Is there a difference between the Ambry and the full Mayo Clinic panel test? Does it mean that because she did not test to be a carrier, she doesn't have CF, or could she be a carrier of a less common mutation? Not sure how the carrier thing works. </end quote></div>

A carrier is the term used for a person who has one normal CFTR gene and one mutated CFTR gene. For example, my husband and I are both carriers and we each passed our mutated CF gene to our daughter. Since both of her CFTR genes are mutated she has CF.

The difference between any of the genetic tests will be how many genes were tested for and whether they tested for deletions/duplications. For example, Ambry offers a test for just deltaF508, and they also offer the CF Amplified test. It might be informative for you to visit their website about CF testing as it will explain it better than I can: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/Cystic-Fibrosis.html">Ambry CF testing</a>
 
K

ktsmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>MaeFlower</b></i>

The genetic testing was sent to the Mayo Clinic & they ran the Amplified test I believe. Which only checks for the 100 most common mutations & they checked to see if she was a carrier. That came back negative.

Is there a difference between the Ambry and the full Mayo Clinic panel test? Does it mean that because she did not test to be a carrier, she doesn't have CF, or could she be a carrier of a less common mutation? Not sure how the carrier thing works. </end quote>

A carrier is the term used for a person who has one normal CFTR gene and one mutated CFTR gene. For example, my husband and I are both carriers and we each passed our mutated CF gene to our daughter. Since both of her CFTR genes are mutated she has CF.

The difference between any of the genetic tests will be how many genes were tested for and whether they tested for deletions/duplications. For example, Ambry offers a test for just deltaF508, and they also offer the CF Amplified test. It might be informative for you to visit their website about CF testing as it will explain it better than I can: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/Cystic-Fibrosis.html">Ambry CF testing</a>
 
K

ktsmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>MaeFlower</b></i>
<br />
<br />The genetic testing was sent to the Mayo Clinic & they ran the Amplified test I believe. Which only checks for the 100 most common mutations & they checked to see if she was a carrier. That came back negative.
<br />
<br />Is there a difference between the Ambry and the full Mayo Clinic panel test? Does it mean that because she did not test to be a carrier, she doesn't have CF, or could she be a carrier of a less common mutation? Not sure how the carrier thing works. </end quote>
<br />
<br />A carrier is the term used for a person who has one normal CFTR gene and one mutated CFTR gene. For example, my husband and I are both carriers and we each passed our mutated CF gene to our daughter. Since both of her CFTR genes are mutated she has CF.
<br />
<br />The difference between any of the genetic tests will be how many genes were tested for and whether they tested for deletions/duplications. For example, Ambry offers a test for just deltaF508, and they also offer the CF Amplified test. It might be informative for you to visit their website about CF testing as it will explain it better than I can: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/Cystic-Fibrosis.html">Ambry CF testing</a>
 
R

Ratatosk

Administrator
Staff member
Mayo's first test is for about 90+ of the most common mutations. They do have an amplified test similar to ambry's that tests for over 1400+ mutations, but doesn't sound like that's what they tested for. Keep pushing. DS' sweat test was a normal 33.
 
R

Ratatosk

Administrator
Staff member
Mayo's first test is for about 90+ of the most common mutations. They do have an amplified test similar to ambry's that tests for over 1400+ mutations, but doesn't sound like that's what they tested for. Keep pushing. DS' sweat test was a normal 33.
 
R

Ratatosk

Administrator
Staff member
Mayo's first test is for about 90+ of the most common mutations. They do have an amplified test similar to ambry's that tests for over 1400+ mutations, but doesn't sound like that's what they tested for. Keep pushing. DS' sweat test was a normal 33.
 
J

JennifersHope

New member
Mayo does do a good job finding mutations if you get the full gene study done.. They have to look at the whole gene.. It took them a little over four weeks but they found my second mutation..
 
J

JennifersHope

New member
Mayo does do a good job finding mutations if you get the full gene study done.. They have to look at the whole gene.. It took them a little over four weeks but they found my second mutation..
 
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