My daughter was diagnosed after my son (11 months) was born. His newborn screen (IRT) was zero and his sweat test was negative. He is in the 90th percentile of height and weight and has not had any health problems? I am feeling very paranoid because he has had a cold for 3 weeks and now is left with a cough with a wheeze. He is on breathing treatments for the next week. The ped said this is very common and he hopefully doesn't end up with asthma. My daughter's CF doctor (accredited CF center) said he does not have CF. Should he have genetic testing done or am I being over the top paranoid. My daughter's mutations are amoung the list of more common mutations that produce typical CF.
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Negative Newborn screen and negative sweat test -- being paranoid
- Thread starter dlo2977
- Start date
My daughter was diagnosed after my son (11 months) was born. His newborn screen (IRT) was zero and his sweat test was negative. He is in the 90th percentile of height and weight and has not had any health problems? I am feeling very paranoid because he has had a cold for 3 weeks and now is left with a cough with a wheeze. He is on breathing treatments for the next week. The ped said this is very common and he hopefully doesn't end up with asthma. My daughter's CF doctor (accredited CF center) said he does not have CF. Should he have genetic testing done or am I being over the top paranoid. My daughter's mutations are amoung the list of more common mutations that produce typical CF.
My daughter was diagnosed after my son (11 months) was born. His newborn screen (IRT) was zero and his sweat test was negative. He is in the 90th percentile of height and weight and has not had any health problems? I am feeling very paranoid because he has had a cold for 3 weeks and now is left with a cough with a wheeze. He is on breathing treatments for the next week. The ped said this is very common and he hopefully doesn't end up with asthma. My daughter's CF doctor (accredited CF center) said he does not have CF. Should he have genetic testing done or am I being over the top paranoid. My daughter's mutations are amoung the list of more common mutations that produce typical CF.
Dana,
I understand how you feel. My daughter was diagnosed with CF prenatally. I already had a healthy 4 year old boy. He was sweat tested which was negative. However, every stomache, every lingering cough would make make me worry what if. I did go to his pediatrician and he told me your son does not have CF. I said I could not stop worrying. Somehow he did order the genetic blood test, knowing it was really for my peace of mind(he didn't agree that my son needed it)
Anyway, my son does not have CF, in fact he is not even a carrier for the mutation. And I have peace of mind; it was covered by health insurance; but I had told our pediatrician I would have paid for the test out of pocket if need be.
Rebecca
I understand how you feel. My daughter was diagnosed with CF prenatally. I already had a healthy 4 year old boy. He was sweat tested which was negative. However, every stomache, every lingering cough would make make me worry what if. I did go to his pediatrician and he told me your son does not have CF. I said I could not stop worrying. Somehow he did order the genetic blood test, knowing it was really for my peace of mind(he didn't agree that my son needed it)
Anyway, my son does not have CF, in fact he is not even a carrier for the mutation. And I have peace of mind; it was covered by health insurance; but I had told our pediatrician I would have paid for the test out of pocket if need be.
Rebecca
Dana,
I understand how you feel. My daughter was diagnosed with CF prenatally. I already had a healthy 4 year old boy. He was sweat tested which was negative. However, every stomache, every lingering cough would make make me worry what if. I did go to his pediatrician and he told me your son does not have CF. I said I could not stop worrying. Somehow he did order the genetic blood test, knowing it was really for my peace of mind(he didn't agree that my son needed it)
Anyway, my son does not have CF, in fact he is not even a carrier for the mutation. And I have peace of mind; it was covered by health insurance; but I had told our pediatrician I would have paid for the test out of pocket if need be.
Rebecca
I understand how you feel. My daughter was diagnosed with CF prenatally. I already had a healthy 4 year old boy. He was sweat tested which was negative. However, every stomache, every lingering cough would make make me worry what if. I did go to his pediatrician and he told me your son does not have CF. I said I could not stop worrying. Somehow he did order the genetic blood test, knowing it was really for my peace of mind(he didn't agree that my son needed it)
Anyway, my son does not have CF, in fact he is not even a carrier for the mutation. And I have peace of mind; it was covered by health insurance; but I had told our pediatrician I would have paid for the test out of pocket if need be.
Rebecca
Dana,
<br />
<br />I understand how you feel. My daughter was diagnosed with CF prenatally. I already had a healthy 4 year old boy. He was sweat tested which was negative. However, every stomache, every lingering cough would make make me worry what if. I did go to his pediatrician and he told me your son does not have CF. I said I could not stop worrying. Somehow he did order the genetic blood test, knowing it was really for my peace of mind(he didn't agree that my son needed it)
<br />
<br />Anyway, my son does not have CF, in fact he is not even a carrier for the mutation. And I have peace of mind; it was covered by health insurance; but I had told our pediatrician I would have paid for the test out of pocket if need be.
<br />
<br />Rebecca
<br />
<br />I understand how you feel. My daughter was diagnosed with CF prenatally. I already had a healthy 4 year old boy. He was sweat tested which was negative. However, every stomache, every lingering cough would make make me worry what if. I did go to his pediatrician and he told me your son does not have CF. I said I could not stop worrying. Somehow he did order the genetic blood test, knowing it was really for my peace of mind(he didn't agree that my son needed it)
<br />
<br />Anyway, my son does not have CF, in fact he is not even a carrier for the mutation. And I have peace of mind; it was covered by health insurance; but I had told our pediatrician I would have paid for the test out of pocket if need be.
<br />
<br />Rebecca
M
Mommafirst
Guest
Dana, I think its incredibly normal for us CF parents to second guess the doctor when it comes to our non-CF kiddos. I mean we have had our entire sense of mothering intution upheaved with the diagnosis.
You are most likely just being "paranoid" (I'd really call it normal, though). Since you know your daughters two mutations it won't be a very expensive test to have those two check in your son. Our CF center doesn't even bother sweat testing siblings, they just run genetics on the two known mutations. Insurance paid for the sibling tests without question. But even if it doesn't it may be the best $200 (just a guestimate here) you ever spent in terms of peace of mind.
You are most likely just being "paranoid" (I'd really call it normal, though). Since you know your daughters two mutations it won't be a very expensive test to have those two check in your son. Our CF center doesn't even bother sweat testing siblings, they just run genetics on the two known mutations. Insurance paid for the sibling tests without question. But even if it doesn't it may be the best $200 (just a guestimate here) you ever spent in terms of peace of mind.
M
Mommafirst
Guest
Dana, I think its incredibly normal for us CF parents to second guess the doctor when it comes to our non-CF kiddos. I mean we have had our entire sense of mothering intution upheaved with the diagnosis.
You are most likely just being "paranoid" (I'd really call it normal, though). Since you know your daughters two mutations it won't be a very expensive test to have those two check in your son. Our CF center doesn't even bother sweat testing siblings, they just run genetics on the two known mutations. Insurance paid for the sibling tests without question. But even if it doesn't it may be the best $200 (just a guestimate here) you ever spent in terms of peace of mind.
You are most likely just being "paranoid" (I'd really call it normal, though). Since you know your daughters two mutations it won't be a very expensive test to have those two check in your son. Our CF center doesn't even bother sweat testing siblings, they just run genetics on the two known mutations. Insurance paid for the sibling tests without question. But even if it doesn't it may be the best $200 (just a guestimate here) you ever spent in terms of peace of mind.
M
Mommafirst
Guest
Dana, I think its incredibly normal for us CF parents to second guess the doctor when it comes to our non-CF kiddos. I mean we have had our entire sense of mothering intution upheaved with the diagnosis.
<br />
<br />You are most likely just being "paranoid" (I'd really call it normal, though). Since you know your daughters two mutations it won't be a very expensive test to have those two check in your son. Our CF center doesn't even bother sweat testing siblings, they just run genetics on the two known mutations. Insurance paid for the sibling tests without question. But even if it doesn't it may be the best $200 (just a guestimate here) you ever spent in terms of peace of mind.
<br />
<br />You are most likely just being "paranoid" (I'd really call it normal, though). Since you know your daughters two mutations it won't be a very expensive test to have those two check in your son. Our CF center doesn't even bother sweat testing siblings, they just run genetics on the two known mutations. Insurance paid for the sibling tests without question. But even if it doesn't it may be the best $200 (just a guestimate here) you ever spent in terms of peace of mind.
I also did genetic testing on my son (and husband for that matter!) for peace of mind. I have cf and my spouse was found not to be a carrier of the most common genes. When son was born I wanted to "close the book" on any chance of him having cf. I wanted the best test possible. In our case we did sweat testing and genetic sequencing through Genzyme all in one day (Ambry is really the best though).
Two mutations were found despite passing the sweat test with a score of 11 and passing the IRT newborn screening test. Although he doesn't have symptoms at the age of 3 we're glad we know and in our cf centers eyes he has cf. It's peace of mind that he's cultured, BMI followed closely. etc. He wears his Vest daily developing a good habit of pt for when cf rears it's head...eventually.
Also, in my son's case (and yours!) he inherited G551D from me. Knowing his mutations and that he does have two muts will make him elgible for V770 after drug approval. Of course it has to go through a lot more studies before it will be rx'ed to toddlers but you get my drift.
Knowledge is power!
Two mutations were found despite passing the sweat test with a score of 11 and passing the IRT newborn screening test. Although he doesn't have symptoms at the age of 3 we're glad we know and in our cf centers eyes he has cf. It's peace of mind that he's cultured, BMI followed closely. etc. He wears his Vest daily developing a good habit of pt for when cf rears it's head...eventually.
Also, in my son's case (and yours!) he inherited G551D from me. Knowing his mutations and that he does have two muts will make him elgible for V770 after drug approval. Of course it has to go through a lot more studies before it will be rx'ed to toddlers but you get my drift.
Knowledge is power!
I also did genetic testing on my son (and husband for that matter!) for peace of mind. I have cf and my spouse was found not to be a carrier of the most common genes. When son was born I wanted to "close the book" on any chance of him having cf. I wanted the best test possible. In our case we did sweat testing and genetic sequencing through Genzyme all in one day (Ambry is really the best though).
Two mutations were found despite passing the sweat test with a score of 11 and passing the IRT newborn screening test. Although he doesn't have symptoms at the age of 3 we're glad we know and in our cf centers eyes he has cf. It's peace of mind that he's cultured, BMI followed closely. etc. He wears his Vest daily developing a good habit of pt for when cf rears it's head...eventually.
Also, in my son's case (and yours!) he inherited G551D from me. Knowing his mutations and that he does have two muts will make him elgible for V770 after drug approval. Of course it has to go through a lot more studies before it will be rx'ed to toddlers but you get my drift.
Knowledge is power!
Two mutations were found despite passing the sweat test with a score of 11 and passing the IRT newborn screening test. Although he doesn't have symptoms at the age of 3 we're glad we know and in our cf centers eyes he has cf. It's peace of mind that he's cultured, BMI followed closely. etc. He wears his Vest daily developing a good habit of pt for when cf rears it's head...eventually.
Also, in my son's case (and yours!) he inherited G551D from me. Knowing his mutations and that he does have two muts will make him elgible for V770 after drug approval. Of course it has to go through a lot more studies before it will be rx'ed to toddlers but you get my drift.
Knowledge is power!
I also did genetic testing on my son (and husband for that matter!) for peace of mind. I have cf and my spouse was found not to be a carrier of the most common genes. When son was born I wanted to "close the book" on any chance of him having cf. I wanted the best test possible. In our case we did sweat testing and genetic sequencing through Genzyme all in one day (Ambry is really the best though).
<br />
<br />Two mutations were found despite passing the sweat test with a score of 11 and passing the IRT newborn screening test. Although he doesn't have symptoms at the age of 3 we're glad we know and in our cf centers eyes he has cf. It's peace of mind that he's cultured, BMI followed closely. etc. He wears his Vest daily developing a good habit of pt for when cf rears it's head...eventually.
<br />
<br />Also, in my son's case (and yours!) he inherited G551D from me. Knowing his mutations and that he does have two muts will make him elgible for V770 after drug approval. Of course it has to go through a lot more studies before it will be rx'ed to toddlers but you get my drift.
<br />
<br />Knowledge is power!
<br />
<br />Two mutations were found despite passing the sweat test with a score of 11 and passing the IRT newborn screening test. Although he doesn't have symptoms at the age of 3 we're glad we know and in our cf centers eyes he has cf. It's peace of mind that he's cultured, BMI followed closely. etc. He wears his Vest daily developing a good habit of pt for when cf rears it's head...eventually.
<br />
<br />Also, in my son's case (and yours!) he inherited G551D from me. Knowing his mutations and that he does have two muts will make him elgible for V770 after drug approval. Of course it has to go through a lot more studies before it will be rx'ed to toddlers but you get my drift.
<br />
<br />Knowledge is power!