<br>Last month my six year old son was diagnosed with CF. It has come as a shock as no one on either side of our families have had this diagnoses. He had two positive sweat tests at 71 and 61. We performed the genetic test and had another sweat test. That test came in negative at 30. The genetic test came back negative and another sweat test negative at 30. If the genes are not there how does he have cf? We have poor pancreatic function showing 115 and they said this was bad so he is now on pancreatic enzymes. His lungs are functioning well. He has had one to two bouts of pneumonia yearly since birth. He also did not pass meconium in hospital until he was 4 days old so we did rectal biopsy for Hirschprungs disease which was negative but never tested for cf as I was unaware this was a symptom and Dr. never suggested. He also has chronic sinus issues. His blood work looks good, even vitamin levels. We are being proactive and using the vest twice a day, hyper sal 7% twice a day, and pulmozyme before bed. I am worried this is a misdiagnoses and we are treating for the wrong illness. Has anyone else had negative sweat tests after positive and no CF genes present with ambry testing? The Dr. wants him to have an NPD? test done, but having problems finding a location to perform the test as we live in Texas. Any advice for a very upset and scared mother?
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Confused! Son newly diagnosed
- Thread starter mneds
- Start date
<br>Last month my six year old son was diagnosed with CF. It has come as a shock as no one on either side of our families have had this diagnoses. He had two positive sweat tests at 71 and 61. We performed the genetic test and had another sweat test. That test came in negative at 30. The genetic test came back negative and another sweat test negative at 30. If the genes are not there how does he have cf? We have poor pancreatic function showing 115 and they said this was bad so he is now on pancreatic enzymes. His lungs are functioning well. He has had one to two bouts of pneumonia yearly since birth. He also did not pass meconium in hospital until he was 4 days old so we did rectal biopsy for Hirschprungs disease which was negative but never tested for cf as I was unaware this was a symptom and Dr. never suggested. He also has chronic sinus issues.His blood work looks good, even vitamin levels. We are being proactive and using the vest twice a day, hyper sal 7% twice a day, and pulmozyme before bed. I am worried this is a misdiagnoses and we are treating for the wrong illness. Has anyone else had negative sweat tests after positive and no CF genes present with ambry testing?The Dr. wants him to have an NPD? test done, but having problems finding a location to perform the test as we live in Texas. Any advice for a very upset and scared mother?
<p><br>Last month my six year old son was diagnosed with CF. It has come as a shock as no one on either side of our families have had this diagnoses. He had two positive sweat tests at 71 and 61. We performed the genetic test and had another sweat test. That test came in negative at 30. The genetic test came back negative and another sweat test negative at 30. If the genes are not there how does he have cf? <p><p>We have poor pancreatic function showing 115 and they said this was bad so he is now on pancreatic enzymes. His lungs are functioning well. He has had one to two bouts of pneumonia yearly since birth. He also did not pass meconium in hospital until he was 4 days old so we did rectal biopsy for Hirschprungs disease which was negative but never tested for cf as I was unaware this was a symptom and Dr. never suggested. He also has chronic sinus issues.<p><p>His blood work looks good, even vitamin levels. We are being proactive and using the vest twice a day, hyper sal 7% twice a day, and pulmozyme before bed. I am worried this is a misdiagnoses and we are treating for the wrong illness. Has anyone else had negative sweat tests after positive and no CF genes present with ambry testing?<p><p>The Dr. wants him to have an NPD? test done, but having problems finding a location to perform the test as we live in Texas. Any advice for a very upset and scared mother?
It sounds based on symptoms and his improvement with treatment/medications, that he very well could have CF.
DS was diagnosed at birth due to meconium illeus. He passed his sweat test with a normal 32; however, genetic testing showed he did indeed have CF. No family history and both DH and I were able to look at extensive geneology info that goes back more than a hundred years. DS' symptoms were primarily digestive, never has had pneumonia, mainly has sinus issues from time to time.
I would ask how many genes your son was tested for. Mostly they test for the most common ones and there are over 1500 mutations.
Your son obviously has some health issues, IMO, push for answers so CF or not he can get the treatment he needs for his health issues. It's great that your doctors are being so proactive. So many times, that isn't the case and doctors won't treat the symptoms without the definitive CF diagnosis.
DS was diagnosed at birth due to meconium illeus. He passed his sweat test with a normal 32; however, genetic testing showed he did indeed have CF. No family history and both DH and I were able to look at extensive geneology info that goes back more than a hundred years. DS' symptoms were primarily digestive, never has had pneumonia, mainly has sinus issues from time to time.
I would ask how many genes your son was tested for. Mostly they test for the most common ones and there are over 1500 mutations.
Your son obviously has some health issues, IMO, push for answers so CF or not he can get the treatment he needs for his health issues. It's great that your doctors are being so proactive. So many times, that isn't the case and doctors won't treat the symptoms without the definitive CF diagnosis.
It sounds based on symptoms and his improvement with treatment/medications, that he very well could have CF.
DS was diagnosed at birth due to meconium illeus. He passed his sweat test with a normal 32; however, genetic testing showed he did indeed have CF. No family history and both DH and I were able to look at extensive geneology info that goes back more than a hundred years. DS' symptoms were primarily digestive, never has had pneumonia, mainly has sinus issues from time to time.
I would ask how many genes your son was tested for. Mostly they test for the most common ones and there are over 1500 mutations.
Your son obviously has some health issues, IMO, push for answers so CF or not he can get the treatment he needs for his health issues. It's great that your doctors are being so proactive. So many times, that isn't the case and doctors won't treat the symptoms without the definitive CF diagnosis.
DS was diagnosed at birth due to meconium illeus. He passed his sweat test with a normal 32; however, genetic testing showed he did indeed have CF. No family history and both DH and I were able to look at extensive geneology info that goes back more than a hundred years. DS' symptoms were primarily digestive, never has had pneumonia, mainly has sinus issues from time to time.
I would ask how many genes your son was tested for. Mostly they test for the most common ones and there are over 1500 mutations.
Your son obviously has some health issues, IMO, push for answers so CF or not he can get the treatment he needs for his health issues. It's great that your doctors are being so proactive. So many times, that isn't the case and doctors won't treat the symptoms without the definitive CF diagnosis.
It sounds based on symptoms and his improvement with treatment/medications, that he very well could have CF.
<br />
<br />DS was diagnosed at birth due to meconium illeus. He passed his sweat test with a normal 32; however, genetic testing showed he did indeed have CF. No family history and both DH and I were able to look at extensive geneology info that goes back more than a hundred years. DS' symptoms were primarily digestive, never has had pneumonia, mainly has sinus issues from time to time.
<br />
<br />I would ask how many genes your son was tested for. Mostly they test for the most common ones and there are over 1500 mutations.
<br />
<br />Your son obviously has some health issues, IMO, push for answers so CF or not he can get the treatment he needs for his health issues. It's great that your doctors are being so proactive. So many times, that isn't the case and doctors won't treat the symptoms without the definitive CF diagnosis.
<br />
<br />DS was diagnosed at birth due to meconium illeus. He passed his sweat test with a normal 32; however, genetic testing showed he did indeed have CF. No family history and both DH and I were able to look at extensive geneology info that goes back more than a hundred years. DS' symptoms were primarily digestive, never has had pneumonia, mainly has sinus issues from time to time.
<br />
<br />I would ask how many genes your son was tested for. Mostly they test for the most common ones and there are over 1500 mutations.
<br />
<br />Your son obviously has some health issues, IMO, push for answers so CF or not he can get the treatment he needs for his health issues. It's great that your doctors are being so proactive. So many times, that isn't the case and doctors won't treat the symptoms without the definitive CF diagnosis.
So sorry you are going through all of this! Not sure what part of TX you are in but have you tried Texas Children's in Houston? They are wonderful and are very knowledgeable. I drive 3.5 hours to take my daughter to them because they take such phenominal care of her. Also, one of Abby's genes is an unknown. I know that is not much comfort and I hope and pray that you can find the answers to your questions and get your son back to healthy.
So sorry you are going through all of this! Not sure what part of TX you are in but have you tried Texas Children's in Houston? They are wonderful and are very knowledgeable. I drive 3.5 hours to take my daughter to them because they take such phenominal care of her. Also, one of Abby's genes is an unknown. I know that is not much comfort and I hope and pray that you can find the answers to your questions and get your son back to healthy.
So sorry you are going through all of this! Not sure what part of TX you are in but have you tried Texas Children's in Houston? They are wonderful and are very knowledgeable. I drive 3.5 hours to take my daughter to them because they take such phenominal care of her. Also, one of Abby's genes is an unknown. I know that is not much comfort and I hope and pray that you can find the answers to your questions and get your son back to healthy.
P
patrish22
Guest
It does sound like CF. Are the doctors that you are presently working with at a CF clinic? Keep in mind that it is a recessive gene and both parents have to be carriers and then the average is 1 in 4 of having a child with CF, (not that this is a hard and fast rule) so it could be many generations before it rears its ugly head. My children (identical twins and younger child) all have CF. They were not diagnosed until the twins were 13. We spent so much time going from doctor to doctor with a slew of misdiagnosis and being treated for things they did not have. Sounds like you are off to a great start in caring for your son. I wish you and your family all the best.
P
patrish22
Guest
It does sound like CF. Are the doctors that you are presently working with at a CF clinic? Keep in mind that it is a recessive gene and both parents have to be carriers and then the average is 1 in 4 of having a child with CF, (not that thisis a hard and fast rule)so it could be many generations before it rears its ugly head. My children (identical twins and younger child) all have CF. They were not diagnosed until the twins were 13. We spent so much time going from doctor to doctor with a slew of misdiagnosis andbeing treatedfor things they did not have. Sounds like you are off to a greatstart in caring for your son. I wish you and your family all the best.
P
patrish22
Guest
<BR>It does sound like CF. Are the doctors that you are presently working with at a CF clinic? Keep in mind that it is a recessive gene and both parents have to be carriers and then the average is 1 in 4 of having a child with CF, (not that thisis a hard and fast rule)so it could be many generations before it rears its ugly head. My children (identical twins and younger child) all have CF. They were not diagnosed until the twins were 13. We spent so much time going from doctor to doctor with a slew of misdiagnosis andbeing treatedfor things they did not have. Sounds like you are off to a greatstart in caring for your son. I wish you and your family all the best.
<br>Thanks for all the replys. I am just confused how his sweat tests can go from positive to negative. It seems as if they would stay positive if he truly had the disease. With a 6 year old, how much info. should he have about the disease? Do I just keep stressing he has an illness and must do his treatments to keep his lungs healthy? Or should I be more in depth? I guess I am wondering how much he should know and what ages for those of you that have been dealing with this for a while.
<br>Thanks for all the replys. I am just confused how his sweat tests can go from positive to negative. It seems as if they would stay positive if he truly had the disease. With a 6 year old, how much info. should he have about the disease? Do I just keep stressing he has an illness and must do his treatments to keep his lungs healthy? Or should I be more in depth? I guess I am wondering how much he should know and what ages for those of you that have been dealing with this for a while.
<p><br>Thanks for all the replys. I am just confused how his sweat tests can go from positive to negative. It seems as if they would stay positive if he truly had the disease. <p><p>With a 6 year old, how much info. should he have about the disease? Do I just keep stressing he has an illness and must do his treatments to keep his lungs healthy? Or should I be more in depth? I guess I am wondering how much he should know and what ages for those of you that have been dealing with this for a while.<p>
Were all of the sweat tests done at the same hospital? It is vital that they be done at a lab accredited by the cf foundation (in other words- affiliated with a CF center.) They are the only ones that have enough experience to do the tests correctly.
I agree with the above post where you were asked exactly what genetic test your son had. There is indeed a HUGE difference between the 'panel' tests- where anywhere from 30ish to 100ish mutations are checked for and 'genetic sequencing, where most of the CFTR gene is analyzed and well over 1,500 mutations have been discovered. A quick clue here would be- how long did it take to get results back? Genetic sequencing almost always takes over a month due to the complexity of the test. Sequencing tests are offered by Ambry (they do not do a panel test, but ONLY sequencing), Quest (they do both panel and sequencing tests so you need to ask), Mayo (they also do both) and Genzyme (I am not sure if they offer both.) If he's not had sequencing, he needs it. Try to get 'Ambry Amplified for CF w/deletions and duplications.'
My son has had the NPD test and it is indeed a valuable test. It is NOT 100% conclusive- it can occasionally be just as 'borderline' as can happen with those who have had inconclusive sweat tests. We were very, very specifically told this by the team at CHOP (one of the leading CF centers in the country) that performed the test, but it most certainly can, if definitive in results, help clear up the dx.
I hope you get answers. He clearly has health issues needing to be addressed, and you need to know what's going on. Please keep us updated and keep asking any other questions you may have! Feel free to post on the 'Families' forum as well- lots of us parents with kids your son's age. <img src="i/expressions/face-icon-small-smile.gif" border="0">
Oh and re. your son- in my opinion... stick to age appropriate answers based specifically on the questions he has. Especially since you are unsure of dx at this point... if you aren't comfortable with naming CF as the issue (I really don't know how necessary that is- I don't have a gut instinct there in this pre-dx stage) you can explain that the drs are still trying to figure it all out. And that they feel he has a health condition that requires he take extra good care of his lungs- but one thing they DO they know is that he has problems digesting his food, therefore explaining the need for the enzymes. IF he ends up with a definitive dx, he should be told, imo, so he doesn't hear elsewhere, which may be very upsetting to him.
I agree with the above post where you were asked exactly what genetic test your son had. There is indeed a HUGE difference between the 'panel' tests- where anywhere from 30ish to 100ish mutations are checked for and 'genetic sequencing, where most of the CFTR gene is analyzed and well over 1,500 mutations have been discovered. A quick clue here would be- how long did it take to get results back? Genetic sequencing almost always takes over a month due to the complexity of the test. Sequencing tests are offered by Ambry (they do not do a panel test, but ONLY sequencing), Quest (they do both panel and sequencing tests so you need to ask), Mayo (they also do both) and Genzyme (I am not sure if they offer both.) If he's not had sequencing, he needs it. Try to get 'Ambry Amplified for CF w/deletions and duplications.'
My son has had the NPD test and it is indeed a valuable test. It is NOT 100% conclusive- it can occasionally be just as 'borderline' as can happen with those who have had inconclusive sweat tests. We were very, very specifically told this by the team at CHOP (one of the leading CF centers in the country) that performed the test, but it most certainly can, if definitive in results, help clear up the dx.
I hope you get answers. He clearly has health issues needing to be addressed, and you need to know what's going on. Please keep us updated and keep asking any other questions you may have! Feel free to post on the 'Families' forum as well- lots of us parents with kids your son's age. <img src="i/expressions/face-icon-small-smile.gif" border="0">
Oh and re. your son- in my opinion... stick to age appropriate answers based specifically on the questions he has. Especially since you are unsure of dx at this point... if you aren't comfortable with naming CF as the issue (I really don't know how necessary that is- I don't have a gut instinct there in this pre-dx stage) you can explain that the drs are still trying to figure it all out. And that they feel he has a health condition that requires he take extra good care of his lungs- but one thing they DO they know is that he has problems digesting his food, therefore explaining the need for the enzymes. IF he ends up with a definitive dx, he should be told, imo, so he doesn't hear elsewhere, which may be very upsetting to him.
Were all of the sweat tests done at the same hospital? It is vital that they be done at a lab accredited by the cf foundation (in other words- affiliated with a CF center.) They are the only ones that have enough experience to do the tests correctly.
I agree with the above post where you were asked exactly what genetic test your son had. There is indeed a HUGE difference between the 'panel' tests- where anywhere from 30ish to 100ish mutations are checked for and 'genetic sequencing, where most of the CFTR gene is analyzed and well over 1,500 mutations have been discovered. A quick clue here would be- how long did it take to get results back? Genetic sequencing almost always takes over a month due to the complexity of the test. Sequencing tests are offered by Ambry (they do not do a panel test, but ONLY sequencing), Quest (they do both panel and sequencing tests so you need to ask), Mayo (they also do both) and Genzyme (I am not sure if they offer both.) If he's not had sequencing, he needs it. Try to get 'Ambry Amplified for CF w/deletions and duplications.'
My son has had the NPD test and it is indeed a valuable test. It is NOT 100% conclusive- it can occasionally be just as 'borderline' as can happen with those who have had inconclusive sweat tests. We were very, very specifically told this by the team at CHOP (one of the leading CF centers in the country) that performed the test, but it most certainly can, if definitive in results, help clear up the dx.
I hope you get answers. He clearly has health issues needing to be addressed, and you need to know what's going on. Please keep us updated and keep asking any other questions you may have! Feel free to post on the 'Families' forum as well- lots of us parents with kids your son's age. <img src="i/expressions/face-icon-small-smile.gif" border="0">
Oh and re. your son- in my opinion... stick to age appropriate answers based specifically on the questions he has. Especially since you are unsure of dx at this point... if you aren't comfortable with naming CF as the issue (I really don't know how necessary that is- I don't have a gut instinct there in this pre-dx stage) you can explain that the drs are still trying to figure it all out. And that they feel he has a health condition that requires he take extra good care of his lungs- but one thing they DO they know is that he has problems digesting his food, therefore explaining the need for the enzymes. IF he ends up with a definitive dx, he should be told, imo, so he doesn't hear elsewhere, which may be very upsetting to him.
I agree with the above post where you were asked exactly what genetic test your son had. There is indeed a HUGE difference between the 'panel' tests- where anywhere from 30ish to 100ish mutations are checked for and 'genetic sequencing, where most of the CFTR gene is analyzed and well over 1,500 mutations have been discovered. A quick clue here would be- how long did it take to get results back? Genetic sequencing almost always takes over a month due to the complexity of the test. Sequencing tests are offered by Ambry (they do not do a panel test, but ONLY sequencing), Quest (they do both panel and sequencing tests so you need to ask), Mayo (they also do both) and Genzyme (I am not sure if they offer both.) If he's not had sequencing, he needs it. Try to get 'Ambry Amplified for CF w/deletions and duplications.'
My son has had the NPD test and it is indeed a valuable test. It is NOT 100% conclusive- it can occasionally be just as 'borderline' as can happen with those who have had inconclusive sweat tests. We were very, very specifically told this by the team at CHOP (one of the leading CF centers in the country) that performed the test, but it most certainly can, if definitive in results, help clear up the dx.
I hope you get answers. He clearly has health issues needing to be addressed, and you need to know what's going on. Please keep us updated and keep asking any other questions you may have! Feel free to post on the 'Families' forum as well- lots of us parents with kids your son's age. <img src="i/expressions/face-icon-small-smile.gif" border="0">
Oh and re. your son- in my opinion... stick to age appropriate answers based specifically on the questions he has. Especially since you are unsure of dx at this point... if you aren't comfortable with naming CF as the issue (I really don't know how necessary that is- I don't have a gut instinct there in this pre-dx stage) you can explain that the drs are still trying to figure it all out. And that they feel he has a health condition that requires he take extra good care of his lungs- but one thing they DO they know is that he has problems digesting his food, therefore explaining the need for the enzymes. IF he ends up with a definitive dx, he should be told, imo, so he doesn't hear elsewhere, which may be very upsetting to him.
Were all of the sweat tests done at the same hospital? It is vital that they be done at a lab accredited by the cf foundation (in other words- affiliated with a CF center.) They are the only ones that have enough experience to do the tests correctly.
<br />
<br />I agree with the above post where you were asked exactly what genetic test your son had. There is indeed a HUGE difference between the 'panel' tests- where anywhere from 30ish to 100ish mutations are checked for and 'genetic sequencing, where most of the CFTR gene is analyzed and well over 1,500 mutations have been discovered. A quick clue here would be- how long did it take to get results back? Genetic sequencing almost always takes over a month due to the complexity of the test. Sequencing tests are offered by Ambry (they do not do a panel test, but ONLY sequencing), Quest (they do both panel and sequencing tests so you need to ask), Mayo (they also do both) and Genzyme (I am not sure if they offer both.) If he's not had sequencing, he needs it. Try to get 'Ambry Amplified for CF w/deletions and duplications.'
<br />
<br />My son has had the NPD test and it is indeed a valuable test. It is NOT 100% conclusive- it can occasionally be just as 'borderline' as can happen with those who have had inconclusive sweat tests. We were very, very specifically told this by the team at CHOP (one of the leading CF centers in the country) that performed the test, but it most certainly can, if definitive in results, help clear up the dx.
<br />
<br />I hope you get answers. He clearly has health issues needing to be addressed, and you need to know what's going on. Please keep us updated and keep asking any other questions you may have! Feel free to post on the 'Families' forum as well- lots of us parents with kids your son's age. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Oh and re. your son- in my opinion... stick to age appropriate answers based specifically on the questions he has. Especially since you are unsure of dx at this point... if you aren't comfortable with naming CF as the issue (I really don't know how necessary that is- I don't have a gut instinct there in this pre-dx stage) you can explain that the drs are still trying to figure it all out. And that they feel he has a health condition that requires he take extra good care of his lungs- but one thing they DO they know is that he has problems digesting his food, therefore explaining the need for the enzymes. IF he ends up with a definitive dx, he should be told, imo, so he doesn't hear elsewhere, which may be very upsetting to him.
<br />
<br />I agree with the above post where you were asked exactly what genetic test your son had. There is indeed a HUGE difference between the 'panel' tests- where anywhere from 30ish to 100ish mutations are checked for and 'genetic sequencing, where most of the CFTR gene is analyzed and well over 1,500 mutations have been discovered. A quick clue here would be- how long did it take to get results back? Genetic sequencing almost always takes over a month due to the complexity of the test. Sequencing tests are offered by Ambry (they do not do a panel test, but ONLY sequencing), Quest (they do both panel and sequencing tests so you need to ask), Mayo (they also do both) and Genzyme (I am not sure if they offer both.) If he's not had sequencing, he needs it. Try to get 'Ambry Amplified for CF w/deletions and duplications.'
<br />
<br />My son has had the NPD test and it is indeed a valuable test. It is NOT 100% conclusive- it can occasionally be just as 'borderline' as can happen with those who have had inconclusive sweat tests. We were very, very specifically told this by the team at CHOP (one of the leading CF centers in the country) that performed the test, but it most certainly can, if definitive in results, help clear up the dx.
<br />
<br />I hope you get answers. He clearly has health issues needing to be addressed, and you need to know what's going on. Please keep us updated and keep asking any other questions you may have! Feel free to post on the 'Families' forum as well- lots of us parents with kids your son's age. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Oh and re. your son- in my opinion... stick to age appropriate answers based specifically on the questions he has. Especially since you are unsure of dx at this point... if you aren't comfortable with naming CF as the issue (I really don't know how necessary that is- I don't have a gut instinct there in this pre-dx stage) you can explain that the drs are still trying to figure it all out. And that they feel he has a health condition that requires he take extra good care of his lungs- but one thing they DO they know is that he has problems digesting his food, therefore explaining the need for the enzymes. IF he ends up with a definitive dx, he should be told, imo, so he doesn't hear elsewhere, which may be very upsetting to him.
I wanted to throw one more thing out there... I went and looked in the accredited CF centers and Dr. Peter Hiatt is one of them listed in Houston and he is at TX Childrens. He is so wonderful with the kids and new parents that are scared to death like my husband and I were. Just wanted to let you know. Hope all is well.
I wanted to throw one more thing out there... I went and looked in the accredited CF centers and Dr. Peter Hiatt is one of them listed in Houston and he is at TX Childrens. He is so wonderful with the kids and new parents that are scared to death like my husband and I were. Just wanted to let you know. Hope all is well.