Advice for New Dad w/ 6 Wk. Old w/CF?

I

igiammanco

New member
Hello,
I am new here and was wondering if anyone could offer us some insight or advice. We have a beautiful new 6 week old girl Sophia that we were fortunate enough to have through the miracle of IVF. My wife and I were screened for CF, she is a carrier of the d508 (most common) mutation, and my test came back negative.

Sophia had 2 PKU screens come back "abnormal" for CF. One was around 240 and the next was around 290. At the recommendation of the pulmonologist we did a sweat test, but she didn't produce enough sweat to sample. We ended up doing a DNA test through Genzyme where they test around 97 different mutations, and that came back that they found 1 mutation, the same one my wife is a carrier for. I know you need 2 mutations to have the disease, and understand that my screen test was limited to only 32 mutations, but I was encouraged that this 1 mutation result supported my hypothesis that she was just a carrier.

Sophia has had some issues with reflux (choking, gagging when on her back) and has been slow to gain weight. She has had to sleep prone on my wife's chest every night because she would actually have stop breathing episodes where she would aspirate some of the reflux when on her back. The scariest moments of my life....

We took her to the Pediatrician and she said she thought it was reflux, put her on some Prevacid solutabs and we ordered an incline wedge for her to sleep on. The Prevacid seems to be working OK.

We then went in for another sweat test and a stool test to look at the Pancreatic elastace? levels. Again not enough sweat for a good sample, but we just got the results of the stool test yesterday. The Pulmonologist said it was most likely CF based on the results. I guess they like to see levels of 450+, and Sophia's was 50. The Dr. did say that there was a remote possibility that it could be some other disease/pancreatic problem causing this, but he was fairly certain that it was CF.

We are obviously crushed, having had the most stressful last month and a half of our lives having to wait this thing out. Everybody we know is saying prayers and sending good thoughts Sophia's way. But it now appears that despite everything, she has CF.

It just doesn't add up to me though. She has started beefing up, gaining 5.5 oz. over the past week, she has a good appetite, and other than the reflux and stool test no other problems. Is it common to get a CF diagnosis out of a stool test? We are obviously going to get another sweat test, but after reading some of the posts on here I question the worth of having one done. It seems the Full Panel Ambry test is the way to go. If she does have CF, that means I have some really rare mutation, and who knows if that test will pick it up.

We are first time parents, worried to death, and don't know the proper course of action to take. Anyone with any advice would be most appreciated. Thanks for reading.

Ian
 
I

igiammanco

New member
Hello,
I am new here and was wondering if anyone could offer us some insight or advice. We have a beautiful new 6 week old girl Sophia that we were fortunate enough to have through the miracle of IVF. My wife and I were screened for CF, she is a carrier of the d508 (most common) mutation, and my test came back negative.

Sophia had 2 PKU screens come back "abnormal" for CF. One was around 240 and the next was around 290. At the recommendation of the pulmonologist we did a sweat test, but she didn't produce enough sweat to sample. We ended up doing a DNA test through Genzyme where they test around 97 different mutations, and that came back that they found 1 mutation, the same one my wife is a carrier for. I know you need 2 mutations to have the disease, and understand that my screen test was limited to only 32 mutations, but I was encouraged that this 1 mutation result supported my hypothesis that she was just a carrier.

Sophia has had some issues with reflux (choking, gagging when on her back) and has been slow to gain weight. She has had to sleep prone on my wife's chest every night because she would actually have stop breathing episodes where she would aspirate some of the reflux when on her back. The scariest moments of my life....

We took her to the Pediatrician and she said she thought it was reflux, put her on some Prevacid solutabs and we ordered an incline wedge for her to sleep on. The Prevacid seems to be working OK.

We then went in for another sweat test and a stool test to look at the Pancreatic elastace? levels. Again not enough sweat for a good sample, but we just got the results of the stool test yesterday. The Pulmonologist said it was most likely CF based on the results. I guess they like to see levels of 450+, and Sophia's was 50. The Dr. did say that there was a remote possibility that it could be some other disease/pancreatic problem causing this, but he was fairly certain that it was CF.

We are obviously crushed, having had the most stressful last month and a half of our lives having to wait this thing out. Everybody we know is saying prayers and sending good thoughts Sophia's way. But it now appears that despite everything, she has CF.

It just doesn't add up to me though. She has started beefing up, gaining 5.5 oz. over the past week, she has a good appetite, and other than the reflux and stool test no other problems. Is it common to get a CF diagnosis out of a stool test? We are obviously going to get another sweat test, but after reading some of the posts on here I question the worth of having one done. It seems the Full Panel Ambry test is the way to go. If she does have CF, that means I have some really rare mutation, and who knows if that test will pick it up.

We are first time parents, worried to death, and don't know the proper course of action to take. Anyone with any advice would be most appreciated. Thanks for reading.

Ian
 
I

igiammanco

New member
Hello,
I am new here and was wondering if anyone could offer us some insight or advice. We have a beautiful new 6 week old girl Sophia that we were fortunate enough to have through the miracle of IVF. My wife and I were screened for CF, she is a carrier of the d508 (most common) mutation, and my test came back negative.

Sophia had 2 PKU screens come back "abnormal" for CF. One was around 240 and the next was around 290. At the recommendation of the pulmonologist we did a sweat test, but she didn't produce enough sweat to sample. We ended up doing a DNA test through Genzyme where they test around 97 different mutations, and that came back that they found 1 mutation, the same one my wife is a carrier for. I know you need 2 mutations to have the disease, and understand that my screen test was limited to only 32 mutations, but I was encouraged that this 1 mutation result supported my hypothesis that she was just a carrier.

Sophia has had some issues with reflux (choking, gagging when on her back) and has been slow to gain weight. She has had to sleep prone on my wife's chest every night because she would actually have stop breathing episodes where she would aspirate some of the reflux when on her back. The scariest moments of my life....

We took her to the Pediatrician and she said she thought it was reflux, put her on some Prevacid solutabs and we ordered an incline wedge for her to sleep on. The Prevacid seems to be working OK.

We then went in for another sweat test and a stool test to look at the Pancreatic elastace? levels. Again not enough sweat for a good sample, but we just got the results of the stool test yesterday. The Pulmonologist said it was most likely CF based on the results. I guess they like to see levels of 450+, and Sophia's was 50. The Dr. did say that there was a remote possibility that it could be some other disease/pancreatic problem causing this, but he was fairly certain that it was CF.

We are obviously crushed, having had the most stressful last month and a half of our lives having to wait this thing out. Everybody we know is saying prayers and sending good thoughts Sophia's way. But it now appears that despite everything, she has CF.

It just doesn't add up to me though. She has started beefing up, gaining 5.5 oz. over the past week, she has a good appetite, and other than the reflux and stool test no other problems. Is it common to get a CF diagnosis out of a stool test? We are obviously going to get another sweat test, but after reading some of the posts on here I question the worth of having one done. It seems the Full Panel Ambry test is the way to go. If she does have CF, that means I have some really rare mutation, and who knows if that test will pick it up.

We are first time parents, worried to death, and don't know the proper course of action to take. Anyone with any advice would be most appreciated. Thanks for reading.

Ian
 
S

Samsmom

New member
Hi Ian!! Just read your post. I'm really sorry to hear about you and your wife's stressful past month. I am a mother of 3 girls, Courtney(3) wocf, Taylor(9) wocf, and Samantha(13) wcf. We just found out last year that our oldest daughter has cf. I can sympathize with you, it is a hard blow, but I believe God chooses parents for special children because he knows who to give them to. You are blessed with a tiny life to nurture. I don't have many years of experience with cf as this is still new to us also. I do know that my daughter has a very rare mutation that was identified (G765A) but no others identified. The Dr. says that this means that she probably has another rare mutation that has not been identified, and we had the Ambry full panel done. She was given a CF diagnosis because she also has a positive sweat test and showed pancreatic sufficiency, but has a bowel blockage before starting enzymes. Sometimes the diagnosis is not as clear cut as we would like, but there are diagnostic markers that give a degree of certainty to the diagnosis. If your daughter has one mutation it is possible that she has another rarer one, especially since you had a limited panel done. I would try having the full panel done, but I am an obsessive person who has to know things. Finding out you have a sick baby can be very hard, but early diagnosis of cf is best because the sooner you treat the illness, the better the outcomes. Good care and management of the disease are crutial. I knew from the minute that my daughter was born that something was wrong, but it took 12 years to convince the medical world. That means she went 12 years without treatment that could have improved her quality of life. There have been a lot of advancements made in cf research and the quality and quantity of life with this disease is increasing each year. If your daughter does have cf, you need to find a cystic fibrosis clinic, as they are more knowledgable about cf and how to treat it. You should insist on an Ambry full panel test (they test for 1500 mutations!!), and keep trying the sweat test. From what I know, it is very uncommon to have a false positive sweat test. I hope that I might have been at least a little helpful in your search for answers. In the meantime while you wait, this forum is a great place to meet people who are where you are or have been there and can offer support. I am new to this site and allready am addicted and can't pull myself away. I finally don't feel alone anymore. "Worry fills our moments when they could be filled with joy, laughter and making memories". I'll keep you in my thoughts and hope to chat with you again. Also, keep checking for replys, they come at any hour of the day and night!!
 
S

Samsmom

New member
Hi Ian!! Just read your post. I'm really sorry to hear about you and your wife's stressful past month. I am a mother of 3 girls, Courtney(3) wocf, Taylor(9) wocf, and Samantha(13) wcf. We just found out last year that our oldest daughter has cf. I can sympathize with you, it is a hard blow, but I believe God chooses parents for special children because he knows who to give them to. You are blessed with a tiny life to nurture. I don't have many years of experience with cf as this is still new to us also. I do know that my daughter has a very rare mutation that was identified (G765A) but no others identified. The Dr. says that this means that she probably has another rare mutation that has not been identified, and we had the Ambry full panel done. She was given a CF diagnosis because she also has a positive sweat test and showed pancreatic sufficiency, but has a bowel blockage before starting enzymes. Sometimes the diagnosis is not as clear cut as we would like, but there are diagnostic markers that give a degree of certainty to the diagnosis. If your daughter has one mutation it is possible that she has another rarer one, especially since you had a limited panel done. I would try having the full panel done, but I am an obsessive person who has to know things. Finding out you have a sick baby can be very hard, but early diagnosis of cf is best because the sooner you treat the illness, the better the outcomes. Good care and management of the disease are crutial. I knew from the minute that my daughter was born that something was wrong, but it took 12 years to convince the medical world. That means she went 12 years without treatment that could have improved her quality of life. There have been a lot of advancements made in cf research and the quality and quantity of life with this disease is increasing each year. If your daughter does have cf, you need to find a cystic fibrosis clinic, as they are more knowledgable about cf and how to treat it. You should insist on an Ambry full panel test (they test for 1500 mutations!!), and keep trying the sweat test. From what I know, it is very uncommon to have a false positive sweat test. I hope that I might have been at least a little helpful in your search for answers. In the meantime while you wait, this forum is a great place to meet people who are where you are or have been there and can offer support. I am new to this site and allready am addicted and can't pull myself away. I finally don't feel alone anymore. "Worry fills our moments when they could be filled with joy, laughter and making memories". I'll keep you in my thoughts and hope to chat with you again. Also, keep checking for replys, they come at any hour of the day and night!!
 
S

Samsmom

New member
Hi Ian!! Just read your post. I'm really sorry to hear about you and your wife's stressful past month. I am a mother of 3 girls, Courtney(3) wocf, Taylor(9) wocf, and Samantha(13) wcf. We just found out last year that our oldest daughter has cf. I can sympathize with you, it is a hard blow, but I believe God chooses parents for special children because he knows who to give them to. You are blessed with a tiny life to nurture. I don't have many years of experience with cf as this is still new to us also. I do know that my daughter has a very rare mutation that was identified (G765A) but no others identified. The Dr. says that this means that she probably has another rare mutation that has not been identified, and we had the Ambry full panel done. She was given a CF diagnosis because she also has a positive sweat test and showed pancreatic sufficiency, but has a bowel blockage before starting enzymes. Sometimes the diagnosis is not as clear cut as we would like, but there are diagnostic markers that give a degree of certainty to the diagnosis. If your daughter has one mutation it is possible that she has another rarer one, especially since you had a limited panel done. I would try having the full panel done, but I am an obsessive person who has to know things. Finding out you have a sick baby can be very hard, but early diagnosis of cf is best because the sooner you treat the illness, the better the outcomes. Good care and management of the disease are crutial. I knew from the minute that my daughter was born that something was wrong, but it took 12 years to convince the medical world. That means she went 12 years without treatment that could have improved her quality of life. There have been a lot of advancements made in cf research and the quality and quantity of life with this disease is increasing each year. If your daughter does have cf, you need to find a cystic fibrosis clinic, as they are more knowledgable about cf and how to treat it. You should insist on an Ambry full panel test (they test for 1500 mutations!!), and keep trying the sweat test. From what I know, it is very uncommon to have a false positive sweat test. I hope that I might have been at least a little helpful in your search for answers. In the meantime while you wait, this forum is a great place to meet people who are where you are or have been there and can offer support. I am new to this site and allready am addicted and can't pull myself away. I finally don't feel alone anymore. "Worry fills our moments when they could be filled with joy, laughter and making memories". I'll keep you in my thoughts and hope to chat with you again. Also, keep checking for replys, they come at any hour of the day and night!!
 
K

ktsmom

New member
Wow I can't say it any better than Jean's post but I wanted you to know that your story broke my heart - because of the worry that you and your wife have been through.

You are already so knowledgeable and that makes you the absolute best advocate for your beautiful Sophia. No, I have not heard of a diagnosis from a stool test. I personally think your only real answer will be the full genetic test.

Our own beautiful daughter was diagnosed 6 months ago at age 3 years and 3 months. She was born prior to our state's newborn CF screening program. She had symptoms the minute she was born - failure to thrive and reflux. She eventually came out of it, though, with no interventions. Only later in life did her digestive issues (and falling off the growth charts) present severely enough for CF to even be considered. I don't tell you this to bring you down from your optimism - only to let you know that CF can present in so many different ways. She is double df508.

I am sorry you are going through this and I wish you and your family the best.
 
K

ktsmom

New member
Wow I can't say it any better than Jean's post but I wanted you to know that your story broke my heart - because of the worry that you and your wife have been through.

You are already so knowledgeable and that makes you the absolute best advocate for your beautiful Sophia. No, I have not heard of a diagnosis from a stool test. I personally think your only real answer will be the full genetic test.

Our own beautiful daughter was diagnosed 6 months ago at age 3 years and 3 months. She was born prior to our state's newborn CF screening program. She had symptoms the minute she was born - failure to thrive and reflux. She eventually came out of it, though, with no interventions. Only later in life did her digestive issues (and falling off the growth charts) present severely enough for CF to even be considered. I don't tell you this to bring you down from your optimism - only to let you know that CF can present in so many different ways. She is double df508.

I am sorry you are going through this and I wish you and your family the best.
 
K

ktsmom

New member
Wow I can't say it any better than Jean's post but I wanted you to know that your story broke my heart - because of the worry that you and your wife have been through.

You are already so knowledgeable and that makes you the absolute best advocate for your beautiful Sophia. No, I have not heard of a diagnosis from a stool test. I personally think your only real answer will be the full genetic test.

Our own beautiful daughter was diagnosed 6 months ago at age 3 years and 3 months. She was born prior to our state's newborn CF screening program. She had symptoms the minute she was born - failure to thrive and reflux. She eventually came out of it, though, with no interventions. Only later in life did her digestive issues (and falling off the growth charts) present severely enough for CF to even be considered. I don't tell you this to bring you down from your optimism - only to let you know that CF can present in so many different ways. She is double df508.

I am sorry you are going through this and I wish you and your family the best.
 
W

wuffles

New member
Hi there, Ian. I'm a 22 year old with CF from Australia, and I was diagnosed through newborn screening (which I am eternally grateful for, because the only symptom I exhibited as a baby was failure to thrive), then a sweat test. I have since had genetic testing and I am double delta F508.

I don't really have much advice for you as you already sound well informed about what you should do. I would go ahead with the sweat test, because if they get a positive result, that will be enough for a diagnosis. If not, however, that's when I would try to get an extended genetic test.

Good luck and I hope little Sophia continues to gain weight. Keep us updated!
 
W

wuffles

New member
Hi there, Ian. I'm a 22 year old with CF from Australia, and I was diagnosed through newborn screening (which I am eternally grateful for, because the only symptom I exhibited as a baby was failure to thrive), then a sweat test. I have since had genetic testing and I am double delta F508.

I don't really have much advice for you as you already sound well informed about what you should do. I would go ahead with the sweat test, because if they get a positive result, that will be enough for a diagnosis. If not, however, that's when I would try to get an extended genetic test.

Good luck and I hope little Sophia continues to gain weight. Keep us updated!
 
W

wuffles

New member
Hi there, Ian. I'm a 22 year old with CF from Australia, and I was diagnosed through newborn screening (which I am eternally grateful for, because the only symptom I exhibited as a baby was failure to thrive), then a sweat test. I have since had genetic testing and I am double delta F508.

I don't really have much advice for you as you already sound well informed about what you should do. I would go ahead with the sweat test, because if they get a positive result, that will be enough for a diagnosis. If not, however, that's when I would try to get an extended genetic test.

Good luck and I hope little Sophia continues to gain weight. Keep us updated!
 
K

ktsmom

New member
I wanted to add that as a parent whose child went undiagnosed and suffered needlessly, I bring a certain baggage and bias to this discussion. I wish I had trusted my instincts earlier and pushed our docs harder. You have educated yourself and it sounds like you have good medical professionals as well. Trust YOUR parent instincts and you can't go wrong.
 
K

ktsmom

New member
I wanted to add that as a parent whose child went undiagnosed and suffered needlessly, I bring a certain baggage and bias to this discussion. I wish I had trusted my instincts earlier and pushed our docs harder. You have educated yourself and it sounds like you have good medical professionals as well. Trust YOUR parent instincts and you can't go wrong.
 
K

ktsmom

New member
I wanted to add that as a parent whose child went undiagnosed and suffered needlessly, I bring a certain baggage and bias to this discussion. I wish I had trusted my instincts earlier and pushed our docs harder. You have educated yourself and it sounds like you have good medical professionals as well. Trust YOUR parent instincts and you can't go wrong.
 
F

folione

New member
I'll keep a finger crossed for you that CF is not the culprit...in the 4 years that I've been a parent, I've come to realize that looking up symptoms on the internet is a lousy way to guess what's wrong with my boy...it seems like there are some symptoms that appear on every illness out there.

My spouse also came up as a dF508 carrier and I also came up negative but our son was born with CF anyway. Turns out that MOST of the CF mutations are very rare. If you think about it, if there are over 1,000 mutations and they all add up to just shy of 100% of CF cases, then most of them are only a fraction of a percent of the cases.

So I'm just saying that if you want a quicker route to some sort of peace of mind about CF, you should probably pursue the full-panel testing from Quest or Ambry. There is also a test called "nasal potential differential" or something like that, which I've seen mentioned in other posts...you might want to look into what that does.
 
F

folione

New member
I'll keep a finger crossed for you that CF is not the culprit...in the 4 years that I've been a parent, I've come to realize that looking up symptoms on the internet is a lousy way to guess what's wrong with my boy...it seems like there are some symptoms that appear on every illness out there.

My spouse also came up as a dF508 carrier and I also came up negative but our son was born with CF anyway. Turns out that MOST of the CF mutations are very rare. If you think about it, if there are over 1,000 mutations and they all add up to just shy of 100% of CF cases, then most of them are only a fraction of a percent of the cases.

So I'm just saying that if you want a quicker route to some sort of peace of mind about CF, you should probably pursue the full-panel testing from Quest or Ambry. There is also a test called "nasal potential differential" or something like that, which I've seen mentioned in other posts...you might want to look into what that does.
 
F

folione

New member
I'll keep a finger crossed for you that CF is not the culprit...in the 4 years that I've been a parent, I've come to realize that looking up symptoms on the internet is a lousy way to guess what's wrong with my boy...it seems like there are some symptoms that appear on every illness out there.

My spouse also came up as a dF508 carrier and I also came up negative but our son was born with CF anyway. Turns out that MOST of the CF mutations are very rare. If you think about it, if there are over 1,000 mutations and they all add up to just shy of 100% of CF cases, then most of them are only a fraction of a percent of the cases.

So I'm just saying that if you want a quicker route to some sort of peace of mind about CF, you should probably pursue the full-panel testing from Quest or Ambry. There is also a test called "nasal potential differential" or something like that, which I've seen mentioned in other posts...you might want to look into what that does.
 
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