Wondering what to expect

Beofett · Jan 25, 2011

For the past 2 months, my wife and I have been trying to find out whether or not my son has CF.

After 2 "inconclusive" sweat tests, a botched post-natal screening, fecal enzyme testing, and genetic screening, I just found out that my son has 2 CF mutations. I was more than a bit overwhelmed during the phone conversation with the doctor, so I'm not 100% I have the terms correct, but I believe he has the delta 508 mutation on one chromosome, and a "p-6 variant" (?) on another.

My son has had no symptoms (he's in the 90%+ for weight, has normal stools, hasn't been sick at all since he was born). The doctor feels that we still don't know if the combination of mutations is "clinically significant", and wants us to come in to discuss next steps. He says that there's a very good chance that if it does turn out to be "clinically significant", then my son may have a "very mild" case of CF. He mentioned daily airway clearing, and aggressive antibiotic treatments of any colds or other normal illnesses that might develop. He also said that there's the possibility that my son might eventually develop a need for enzymatic supplements.

Or, he could have no symptoms at all.

Tonight I have to tell my wife. She did not handle the initial inconclusive testing well, and spent a lot of time worrying about whether he has CF or not. At this point, she has stopped worrying, but only because she has convinced herself that he does not have CF.

I'm sure that as soon as I start telling her about my conversation with the doctor, all of her fears and worry will come right back.

Any anecdotes about raising a child diagnosed at an early age might help me be able to put this in a proper perspective for her. Any other advice you all could offer to help me break the news to her gently, and help prepare her for what we can expect would be very much appreciated.

Beofett · Jan 25, 2011

For the past 2 months, my wife and I have been trying to find out whether or not my son has CF.

After 2 "inconclusive" sweat tests, a botched post-natal screening, fecal enzyme testing, and genetic screening, I just found out that my son has 2 CF mutations. I was more than a bit overwhelmed during the phone conversation with the doctor, so I'm not 100% I have the terms correct, but I believe he has the delta 508 mutation on one chromosome, and a "p-6 variant" (?) on another.

My son has had no symptoms (he's in the 90%+ for weight, has normal stools, hasn't been sick at all since he was born). The doctor feels that we still don't know if the combination of mutations is "clinically significant", and wants us to come in to discuss next steps. He says that there's a very good chance that if it does turn out to be "clinically significant", then my son may have a "very mild" case of CF. He mentioned daily airway clearing, and aggressive antibiotic treatments of any colds or other normal illnesses that might develop. He also said that there's the possibility that my son might eventually develop a need for enzymatic supplements.

Or, he could have no symptoms at all.

Tonight I have to tell my wife. She did not handle the initial inconclusive testing well, and spent a lot of time worrying about whether he has CF or not. At this point, she has stopped worrying, but only because she has convinced herself that he does not have CF.

I'm sure that as soon as I start telling her about my conversation with the doctor, all of her fears and worry will come right back.

Any anecdotes about raising a child diagnosed at an early age might help me be able to put this in a proper perspective for her. Any other advice you all could offer to help me break the news to her gently, and help prepare her for what we can expect would be very much appreciated.

Beofett · Jan 25, 2011

For the past 2 months, my wife and I have been trying to find out whether or not my son has CF.
 
 After 2 "inconclusive" sweat tests, a botched post-natal screening, fecal enzyme testing, and genetic screening, I just found out that my son has 2 CF mutations. I was more than a bit overwhelmed during the phone conversation with the doctor, so I'm not 100% I have the terms correct, but I believe he has the delta 508 mutation on one chromosome, and a "p-6 variant" (?) on another.
 
 My son has had no symptoms (he's in the 90%+ for weight, has normal stools, hasn't been sick at all since he was born). The doctor feels that we still don't know if the combination of mutations is "clinically significant", and wants us to come in to discuss next steps. He says that there's a very good chance that if it does turn out to be "clinically significant", then my son may have a "very mild" case of CF. He mentioned daily airway clearing, and aggressive antibiotic treatments of any colds or other normal illnesses that might develop. He also said that there's the possibility that my son might eventually develop a need for enzymatic supplements.
 
 Or, he could have no symptoms at all.
 
 Tonight I have to tell my wife. She did not handle the initial inconclusive testing well, and spent a lot of time worrying about whether he has CF or not. At this point, she has stopped worrying, but only because she has convinced herself that he does not have CF.
 
 I'm sure that as soon as I start telling her about my conversation with the doctor, all of her fears and worry will come right back.
 
 Any anecdotes about raising a child diagnosed at an early age might help me be able to put this in a proper perspective for her. Any other advice you all could offer to help me break the news to her gently, and help prepare her for what we can expect would be very much appreciated.

Printer · Jan 25, 2011

OK. First don't let this dx overwelm you. I'm male 71 years of age with CF. We just celebrated our 48 Wedding Anniversary.

I to have Delta F508 and an unknown defective gene.

I would STRONGLY recommend that you bring your son to a nearby CF Center, if you are not doing that already.

Second, be advided that I believe that a cure for CF will be found in YOUR lifetime.

Bill

Printer · Jan 25, 2011

OK. First don't let this dx overwelm you. I'm male 71 years of age with CF. We just celebrated our 48 Wedding Anniversary.

I to have Delta F508 and an unknown defective gene.

I would STRONGLY recommend that you bring your son to a nearby CF Center, if you are not doing that already.

Second, be advided that I believe that a cure for CF will be found in YOUR lifetime.

Bill

Printer · Jan 25, 2011

OK. First don't let this dx overwelm you. I'm male 71 years of age with CF. We just celebrated our 48 Wedding Anniversary.
 
 I to have Delta F508 and an unknown defective gene.
 
 I would STRONGLY recommend that you bring your son to a nearby CF Center, if you are not doing that already.
 
 Second, be advided that I believe that a cure for CF will be found in YOUR lifetime.
 
 Bill

welshwitch · Jan 25, 2011

I think it's important to realize that no case of CF is the same.

Modifer genes, access to health care, and lung clearance are all variables of how you will fare.

Like Printer, I've done very well w. my CF. I'm 31 and lead a full and productive life. I put a lot of work into my CF regimen, but that's about it.

On the other hand, other people haven't been so lucky, and CF hits them must harder, and faster.

Luckily we've made huge advances in medicine in the past few years.

So this website is a great resource. It shows you that one's story is the same.

welshwitch · Jan 25, 2011

I think it's important to realize that no case of CF is the same.

Modifer genes, access to health care, and lung clearance are all variables of how you will fare.

Like Printer, I've done very well w. my CF. I'm 31 and lead a full and productive life. I put a lot of work into my CF regimen, but that's about it.

On the other hand, other people haven't been so lucky, and CF hits them must harder, and faster.

Luckily we've made huge advances in medicine in the past few years.

So this website is a great resource. It shows you that one's story is the same.

welshwitch · Jan 25, 2011

I think it's important to realize that no case of CF is the same.
 
 Modifer genes, access to health care, and lung clearance are all variables of how you will fare.
 
 Like Printer, I've done very well w. my CF. I'm 31 and lead a full and productive life. I put a lot of work into my CF regimen, but that's about it.
 
 On the other hand, other people haven't been so lucky, and CF hits them must harder, and faster.
 
 Luckily we've made huge advances in medicine in the past few years.
 
 So this website is a great resource. It shows you that one's story is the same.

peter · Jan 25, 2011

BTW, welcome to this forum. It is really your best first stop.

How old is your son? I'm wondering what made you suspect something if there are no symptoms? It costs money to do this. Was your approach to be preventative or prophylactic or is your son newly born?

Did you and/or your wife have some genetic screening giving you reason to do this? If you or your wife don't have cf genes or mutations, he really shouldn't have the kind of cf symptoms you are anticipating, apparently from your doctor's input. There is some thread thoughts about some having symptoms when only one gene is found. If you and your wife haven't been tested, that too would be a way to approach the diagnostic process.

You can be sure there is plenty of brain power and love on this site to assist you.

peter · Jan 25, 2011

BTW, welcome to this forum. It is really your best first stop.

How old is your son? I'm wondering what made you suspect something if there are no symptoms? It costs money to do this. Was your approach to be preventative or prophylactic or is your son newly born?

Did you and/or your wife have some genetic screening giving you reason to do this? If you or your wife don't have cf genes or mutations, he really shouldn't have the kind of cf symptoms you are anticipating, apparently from your doctor's input. There is some thread thoughts about some having symptoms when only one gene is found. If you and your wife haven't been tested, that too would be a way to approach the diagnostic process.

You can be sure there is plenty of brain power and love on this site to assist you.

peter · Jan 25, 2011

BTW, welcome to this forum. It is really your best first stop.
 
 How old is your son? I'm wondering what made you suspect something if there are no symptoms? It costs money to do this. Was your approach to be preventative or prophylactic or is your son newly born?
 
 Did you and/or your wife have some genetic screening giving you reason to do this? If you or your wife don't have cf genes or mutations, he really shouldn't have the kind of cf symptoms you are anticipating, apparently from your doctor's input. There is some thread thoughts about some having symptoms when only one gene is found. If you and your wife haven't been tested, that too would be a way to approach the diagnostic process.
 
 You can be sure there is plenty of brain power and love on this site to assist you.

Beofett · Jan 25, 2011

Thanks for the replies, and thanks for the welcome.

My son is 4 months old. We were referred for sweat tests by our pediatrician (who apparently interned at the CF center in Hershey Medical Center) after the newborn screening returned a positive result for the state-mandated CF screen (testing for the presence of the delta 508 mutation, I believe).

The first sweat test gave a value in the borderline range (I don't remember the numbers, but it was below what would have resulted in an instant dx of CF, but just above the normal range) in one arm, and no result in the other (not enough sweat).

Our pediatrician referred us to the CF center just to make sure. The specialist we saw sent us for another sweat test, which came back with another borderline result. We then were sent for fecal enzyme testing (which came back indicating that all the enzymes that should be there were), and for genetic screening.

We just got the genetic screening, which indicated the second cf gene mutation variation.

Neither myself nor my wife had had any screening prior to the birth of our son, since we were aware of no history of CF in either family (we've since learned that lack of family history doesn't really mean much). However, it seems that we're both carriers, based upon the results of our son's genetic screening.

Welshwitch, if it isn't too personal, what is involved in your CF regimen? I understand dietary supplements (with each meal?) are common, as are techniques for clearing the airways. What else might be required?

Is the airways clearance vest fairly standard for cf treatment?

Beofett · Jan 25, 2011

Thanks for the replies, and thanks for the welcome.

My son is 4 months old. We were referred for sweat tests by our pediatrician (who apparently interned at the CF center in Hershey Medical Center) after the newborn screening returned a positive result for the state-mandated CF screen (testing for the presence of the delta 508 mutation, I believe).

The first sweat test gave a value in the borderline range (I don't remember the numbers, but it was below what would have resulted in an instant dx of CF, but just above the normal range) in one arm, and no result in the other (not enough sweat).

Our pediatrician referred us to the CF center just to make sure. The specialist we saw sent us for another sweat test, which came back with another borderline result. We then were sent for fecal enzyme testing (which came back indicating that all the enzymes that should be there were), and for genetic screening.

We just got the genetic screening, which indicated the second cf gene mutation variation.

Neither myself nor my wife had had any screening prior to the birth of our son, since we were aware of no history of CF in either family (we've since learned that lack of family history doesn't really mean much). However, it seems that we're both carriers, based upon the results of our son's genetic screening.

Welshwitch, if it isn't too personal, what is involved in your CF regimen? I understand dietary supplements (with each meal?) are common, as are techniques for clearing the airways. What else might be required?

Is the airways clearance vest fairly standard for cf treatment?

Beofett · Jan 25, 2011

Thanks for the replies, and thanks for the welcome.
 
 My son is 4 months old. We were referred for sweat tests by our pediatrician (who apparently interned at the CF center in Hershey Medical Center) after the newborn screening returned a positive result for the state-mandated CF screen (testing for the presence of the delta 508 mutation, I believe).
 
 The first sweat test gave a value in the borderline range (I don't remember the numbers, but it was below what would have resulted in an instant dx of CF, but just above the normal range) in one arm, and no result in the other (not enough sweat).
 
 Our pediatrician referred us to the CF center just to make sure. The specialist we saw sent us for another sweat test, which came back with another borderline result. We then were sent for fecal enzyme testing (which came back indicating that all the enzymes that should be there were), and for genetic screening.
 
 We just got the genetic screening, which indicated the second cf gene mutation variation.
 
 Neither myself nor my wife had had any screening prior to the birth of our son, since we were aware of no history of CF in either family (we've since learned that lack of family history doesn't really mean much). However, it seems that we're both carriers, based upon the results of our son's genetic screening.
 
 Welshwitch, if it isn't too personal, what is involved in your CF regimen? I understand dietary supplements (with each meal?) are common, as are techniques for clearing the airways. What else might be required?
 
 Is the airways clearance vest fairly standard for cf treatment?

Mommafirst · Jan 25, 2011

Hello and welcome to the place you never thought you'd need.

Let me start by saying how sorry I am. This is a really hard time....first being in limbo while not knowing one way or another, and now having to deal with the diagnosis. It will be hard to tell your wife, but this is something that has to be done and candy coating it won't make it easier in the long run.

I was in your place not quite 5 years ago. At 4 months of age my daughter was given the exact same information you have. AFter a long chase around testing, they found 2 CF mutations and we were told that they didn't know the clinical significance for her combinations of mutations...and that they hoped it would mean a mild version of CF. I'm sorry to say that it was the WRONG thing to say. It left me feeling like our case was "different" maybe even "better" than other CF families. It also made me take a much longer time coming to term with the diagnosis and when my daughter was hospitalized the first time it was a HUGE slap in my face. I kept thinking that it couldn't be...I was in denial. Today my daughter is a beautiful, happy, mostly healthy 5 year old. You couldn't pick her out of the crowd for having CF. But our path was much more "typical" than the doctors led us to believe. She has been hospitalized 6 times, and even though her pancreas works just fine (none of the yucky stools) her weight tanked after she hit a year and now has a feeding tube.

The bottom line is that CF is different for every patient. It is possible that your child will have many many very healthy years ahead of him....and with the right preventative care, you may be able to extend far beyond that even when he does show symptoms. But CF is a progressive disease, symptoms do eventually creep in. There is absolutely no research in CF that concludes that CF mutation has a direct impact on the severity of the disease. Even those mutations that appear to be mild for some can wreak havoc for others. In some cases there are siblings with the same exact mutations and yet have completely different clinical outcomes.

My point is that as hard as the next few months are going to be, you'll need to wrap your head around this CF diagnosis. And when you begin to see your beautiful son for more than just that diagnosis, you will realize that CF can really suck and be really not that bad all at once.

I hope this helps....I don't mean to make any of this harder...I just wish someone would have been more honest with me in the beginning. Everyone should have hope, but its unfair to start the foundation of knowledge about CF on misnomers.

Mommafirst · Jan 25, 2011

Hello and welcome to the place you never thought you'd need.

Let me start by saying how sorry I am. This is a really hard time....first being in limbo while not knowing one way or another, and now having to deal with the diagnosis. It will be hard to tell your wife, but this is something that has to be done and candy coating it won't make it easier in the long run.

I was in your place not quite 5 years ago. At 4 months of age my daughter was given the exact same information you have. AFter a long chase around testing, they found 2 CF mutations and we were told that they didn't know the clinical significance for her combinations of mutations...and that they hoped it would mean a mild version of CF. I'm sorry to say that it was the WRONG thing to say. It left me feeling like our case was "different" maybe even "better" than other CF families. It also made me take a much longer time coming to term with the diagnosis and when my daughter was hospitalized the first time it was a HUGE slap in my face. I kept thinking that it couldn't be...I was in denial. Today my daughter is a beautiful, happy, mostly healthy 5 year old. You couldn't pick her out of the crowd for having CF. But our path was much more "typical" than the doctors led us to believe. She has been hospitalized 6 times, and even though her pancreas works just fine (none of the yucky stools) her weight tanked after she hit a year and now has a feeding tube.

The bottom line is that CF is different for every patient. It is possible that your child will have many many very healthy years ahead of him....and with the right preventative care, you may be able to extend far beyond that even when he does show symptoms. But CF is a progressive disease, symptoms do eventually creep in. There is absolutely no research in CF that concludes that CF mutation has a direct impact on the severity of the disease. Even those mutations that appear to be mild for some can wreak havoc for others. In some cases there are siblings with the same exact mutations and yet have completely different clinical outcomes.

My point is that as hard as the next few months are going to be, you'll need to wrap your head around this CF diagnosis. And when you begin to see your beautiful son for more than just that diagnosis, you will realize that CF can really suck and be really not that bad all at once.

I hope this helps....I don't mean to make any of this harder...I just wish someone would have been more honest with me in the beginning. Everyone should have hope, but its unfair to start the foundation of knowledge about CF on misnomers.

Mommafirst · Jan 25, 2011

Hello and welcome to the place you never thought you'd need.
 
 Let me start by saying how sorry I am. This is a really hard time....first being in limbo while not knowing one way or another, and now having to deal with the diagnosis. It will be hard to tell your wife, but this is something that has to be done and candy coating it won't make it easier in the long run.
 
 I was in your place not quite 5 years ago. At 4 months of age my daughter was given the exact same information you have. AFter a long chase around testing, they found 2 CF mutations and we were told that they didn't know the clinical significance for her combinations of mutations...and that they hoped it would mean a mild version of CF. I'm sorry to say that it was the WRONG thing to say. It left me feeling like our case was "different" maybe even "better" than other CF families. It also made me take a much longer time coming to term with the diagnosis and when my daughter was hospitalized the first time it was a HUGE slap in my face. I kept thinking that it couldn't be...I was in denial. Today my daughter is a beautiful, happy, mostly healthy 5 year old. You couldn't pick her out of the crowd for having CF. But our path was much more "typical" than the doctors led us to believe. She has been hospitalized 6 times, and even though her pancreas works just fine (none of the yucky stools) her weight tanked after she hit a year and now has a feeding tube.
 
 The bottom line is that CF is different for every patient. It is possible that your child will have many many very healthy years ahead of him....and with the right preventative care, you may be able to extend far beyond that even when he does show symptoms. But CF is a progressive disease, symptoms do eventually creep in. There is absolutely no research in CF that concludes that CF mutation has a direct impact on the severity of the disease. Even those mutations that appear to be mild for some can wreak havoc for others. In some cases there are siblings with the same exact mutations and yet have completely different clinical outcomes.
 
 My point is that as hard as the next few months are going to be, you'll need to wrap your head around this CF diagnosis. And when you begin to see your beautiful son for more than just that diagnosis, you will realize that CF can really suck and be really not that bad all at once.
 
 I hope this helps....I don't mean to make any of this harder...I just wish someone would have been more honest with me in the beginning. Everyone should have hope, but its unfair to start the foundation of knowledge about CF on misnomers.

peter · Jan 25, 2011

Somethings you and your wife can ponder positively are:
1)Wow. What's the chance your pediatrician (incidentally)actually did a cf center residency?
2)All evidence says the sooner you know the better ("what you don't know won't hurt you" has no place in CF). Proactive is really important. So tell her and get her on the page.
3)Frances Collins found the CFTR gene, is head of the NIH (and all of its Billion's research dollars) and wants the government to be more proactive in disease research and treatment (let's not get political here about too much government).
4)The President has passed a law (Affordable Care Act) with the Congress to ensure your son will have medical care and insurance and not be a 3rd world statistic.
5)you have this site to come to 24/7. This is a global site (107 countries) and people are on all the time (most are lurking by the thousands) without logging on or registering but always will jump in if needed.
6) there are over 2.2 million messages you can search here by terminology and find threads to suit your son's needs and your questions.
7) although totally out in the open, this is really a private and confidential place. Learn how to private message so your wife can speak plainly and honestly to other mothers here; in private!

peter · Jan 25, 2011

Somethings you and your wife can ponder positively are:
1)Wow. What's the chance your pediatrician (incidentally)actually did a cf center residency?
2)All evidence says the sooner you know the better ("what you don't know won't hurt you" has no place in CF). Proactive is really important. So tell her and get her on the page.
3)Frances Collins found the CFTR gene, is head of the NIH (and all of its Billion's research dollars) and wants the government to be more proactive in disease research and treatment (let's not get political here about too much government).
4)The President has passed a law (Affordable Care Act) with the Congress to ensure your son will have medical care and insurance and not be a 3rd world statistic.
5)you have this site to come to 24/7. This is a global site (107 countries) and people are on all the time (most are lurking by the thousands) without logging on or registering but always will jump in if needed.
6) there are over 2.2 million messages you can search here by terminology and find threads to suit your son's needs and your questions.
7) although totally out in the open, this is really a private and confidential place. Learn how to private message so your wife can speak plainly and honestly to other mothers here; in private!

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