New here

[Brando]

I do have a question, but as I am new here I will try to tell a short version of my story first! During my pregnancy a routine screening showed an increased risk for Down Syndrome, but I was told not to worry, it would more than likely be okay. We opted not to have an amnio, so we waited it out. Our son was born 4 weeks ago and does not have Down Syndrome. We were so releived and thankful. At his 2 week check-up a HUGE BOMB was dropped on us. His new born screening showed a possibility of CF so they went ahead and did genetic testing. We were told he had two copies of the CF gene and not much more. Our Dr. was not much help. We left completely greif stricken and in utter shock. Two days later we met with Drs. @ our local CF Center (Thank God we have one where we live!) and they were able to explain things more clearly. He has two copies of delta f508. We also have a 2 1/2 year old daughter so we were worried about her having it as well. She has been a very healthy child (only a mild case of pneumonia treated out of the hospital) so they told us she more than likely did not have it. She had her sweat test last week. A nurse called us later that day and said her result was an 84 and anything above a 59 was positive, another kick in the gut! We go to the CF Center tomorrow so they can evaluate her.

My question is will they do genetic testing on her as well? She's so healthy that part of me is having a hard time accepting that she has it, too. Should I ask for genetic testing or just accept it? My son was too small for the sweat test, so I don't know what his level is yet. Any input would help. I still can't beleive this is happening! The last few weeks have been such an emotional roller coaster!

 

[Brando]

I do have a question, but as I am new here I will try to tell a short version of my story first! During my pregnancy a routine screening showed an increased risk for Down Syndrome, but I was told not to worry, it would more than likely be okay. We opted not to have an amnio, so we waited it out. Our son was born 4 weeks ago and does not have Down Syndrome. We were so releived and thankful. At his 2 week check-up a HUGE BOMB was dropped on us. His new born screening showed a possibility of CF so they went ahead and did genetic testing. We were told he had two copies of the CF gene and not much more. Our Dr. was not much help. We left completely greif stricken and in utter shock. Two days later we met with Drs. @ our local CF Center (Thank God we have one where we live!) and they were able to explain things more clearly. He has two copies of delta f508. We also have a 2 1/2 year old daughter so we were worried about her having it as well. She has been a very healthy child (only a mild case of pneumonia treated out of the hospital) so they told us she more than likely did not have it. She had her sweat test last week. A nurse called us later that day and said her result was an 84 and anything above a 59 was positive, another kick in the gut! We go to the CF Center tomorrow so they can evaluate her.

My question is will they do genetic testing on her as well? She's so healthy that part of me is having a hard time accepting that she has it, too. Should I ask for genetic testing or just accept it? My son was too small for the sweat test, so I don't know what his level is yet. Any input would help. I still can't beleive this is happening! The last few weeks have been such an emotional roller coaster!

 

[Brando]

I do have a question, but as I am new here I will try to tell a short version of my story first! During my pregnancy a routine screening showed an increased risk for Down Syndrome, but I was told not to worry, it would more than likely be okay. We opted not to have an amnio, so we waited it out. Our son was born 4 weeks ago and does not have Down Syndrome. We were so releived and thankful. At his 2 week check-up a HUGE BOMB was dropped on us. His new born screening showed a possibility of CF so they went ahead and did genetic testing. We were told he had two copies of the CF gene and not much more. Our Dr. was not much help. We left completely greif stricken and in utter shock. Two days later we met with Drs. @ our local CF Center (Thank God we have one where we live!) and they were able to explain things more clearly. He has two copies of delta f508. We also have a 2 1/2 year old daughter so we were worried about her having it as well. She has been a very healthy child (only a mild case of pneumonia treated out of the hospital) so they told us she more than likely did not have it. She had her sweat test last week. A nurse called us later that day and said her result was an 84 and anything above a 59 was positive, another kick in the gut! We go to the CF Center tomorrow so they can evaluate her.

My question is will they do genetic testing on her as well? She's so healthy that part of me is having a hard time accepting that she has it, too. Should I ask for genetic testing or just accept it? My son was too small for the sweat test, so I don't know what his level is yet. Any input would help. I still can't beleive this is happening! The last few weeks have been such an emotional roller coaster!

 

[Brando]

I do have a question, but as I am new here I will try to tell a short version of my story first! During my pregnancy a routine screening showed an increased risk for Down Syndrome, but I was told not to worry, it would more than likely be okay. We opted not to have an amnio, so we waited it out. Our son was born 4 weeks ago and does not have Down Syndrome. We were so releived and thankful. At his 2 week check-up a HUGE BOMB was dropped on us. His new born screening showed a possibility of CF so they went ahead and did genetic testing. We were told he had two copies of the CF gene and not much more. Our Dr. was not much help. We left completely greif stricken and in utter shock. Two days later we met with Drs. @ our local CF Center (Thank God we have one where we live!) and they were able to explain things more clearly. He has two copies of delta f508. We also have a 2 1/2 year old daughter so we were worried about her having it as well. She has been a very healthy child (only a mild case of pneumonia treated out of the hospital) so they told us she more than likely did not have it. She had her sweat test last week. A nurse called us later that day and said her result was an 84 and anything above a 59 was positive, another kick in the gut! We go to the CF Center tomorrow so they can evaluate her.

My question is will they do genetic testing on her as well? She's so healthy that part of me is having a hard time accepting that she has it, too. Should I ask for genetic testing or just accept it? My son was too small for the sweat test, so I don't know what his level is yet. Any input would help. I still can't beleive this is happening! The last few weeks have been such an emotional roller coaster!

 

[Brando]

I do have a question, but as I am new here I will try to tell a short version of my story first! During my pregnancy a routine screening showed an increased risk for Down Syndrome, but I was told not to worry, it would more than likely be okay. We opted not to have an amnio, so we waited it out. Our son was born 4 weeks ago and does not have Down Syndrome. We were so releived and thankful. At his 2 week check-up a HUGE BOMB was dropped on us. His new born screening showed a possibility of CF so they went ahead and did genetic testing. We were told he had two copies of the CF gene and not much more. Our Dr. was not much help. We left completely greif stricken and in utter shock. Two days later we met with Drs. @ our local CF Center (Thank God we have one where we live!) and they were able to explain things more clearly. He has two copies of delta f508. We also have a 2 1/2 year old daughter so we were worried about her having it as well. She has been a very healthy child (only a mild case of pneumonia treated out of the hospital) so they told us she more than likely did not have it. She had her sweat test last week. A nurse called us later that day and said her result was an 84 and anything above a 59 was positive, another kick in the gut! We go to the CF Center tomorrow so they can evaluate her.

My question is will they do genetic testing on her as well? She's so healthy that part of me is having a hard time accepting that she has it, too. Should I ask for genetic testing or just accept it? My son was too small for the sweat test, so I don't know what his level is yet. Any input would help. I still can't beleive this is happening! The last few weeks have been such an emotional roller coaster!

 

[Brando]

I do have a question, but as I am new here I will try to tell a short version of my story first! During my pregnancy a routine screening showed an increased risk for Down Syndrome, but I was told not to worry, it would more than likely be okay. We opted not to have an amnio, so we waited it out. Our son was born 4 weeks ago and does not have Down Syndrome. We were so releived and thankful. At his 2 week check-up a HUGE BOMB was dropped on us. His new born screening showed a possibility of CF so they went ahead and did genetic testing. We were told he had two copies of the CF gene and not much more. Our Dr. was not much help. We left completely greif stricken and in utter shock. Two days later we met with Drs. @ our local CF Center (Thank God we have one where we live!) and they were able to explain things more clearly. He has two copies of delta f508. We also have a 2 1/2 year old daughter so we were worried about her having it as well. She has been a very healthy child (only a mild case of pneumonia treated out of the hospital) so they told us she more than likely did not have it. She had her sweat test last week. A nurse called us later that day and said her result was an 84 and anything above a 59 was positive, another kick in the gut! We go to the CF Center tomorrow so they can evaluate her.

My question is will they do genetic testing on her as well? She's so healthy that part of me is having a hard time accepting that she has it, too. Should I ask for genetic testing or just accept it? My son was too small for the sweat test, so I don't know what his level is yet. Any input would help. I still can't beleive this is happening! The last few weeks have been such an emotional roller coaster!

 

[JazzysMom]

I would still have the genetic testing done just to confirm it. Sweat tests are not 100% reliable. Since they know what your sons genes are & its the most common mutations they would test for just those. I am sorry that you are thrown all of this, but you really need to know so both kids can get the best care. HUGS to you!

 

[JazzysMom]

I would still have the genetic testing done just to confirm it. Sweat tests are not 100% reliable. Since they know what your sons genes are & its the most common mutations they would test for just those. I am sorry that you are thrown all of this, but you really need to know so both kids can get the best care. HUGS to you!

 

[JazzysMom]

I would still have the genetic testing done just to confirm it. Sweat tests are not 100% reliable. Since they know what your sons genes are & its the most common mutations they would test for just those. I am sorry that you are thrown all of this, but you really need to know so both kids can get the best care. HUGS to you!

 

[JazzysMom]

I would still have the genetic testing done just to confirm it. Sweat tests are not 100% reliable. Since they know what your sons genes are & its the most common mutations they would test for just those. I am sorry that you are thrown all of this, but you really need to know so both kids can get the best care. HUGS to you!

 

[JazzysMom]

I would still have the genetic testing done just to confirm it. Sweat tests are not 100% reliable. Since they know what your sons genes are & its the most common mutations they would test for just those. I am sorry that you are thrown all of this, but you really need to know so both kids can get the best care. HUGS to you!

 

[JazzysMom]

I would still have the genetic testing done just to confirm it. Sweat tests are not 100% reliable. Since they know what your sons genes are & its the most common mutations they would test for just those. I am sorry that you are thrown all of this, but you really need to know so both kids can get the best care. HUGS to you!

 

[charjt]

I know what you mean by it being hard to accept. My husband and I also found out about our son having CF through newborn screening. He's Ped. did not understand that if you had two genes you had it and ordered a sweat test. That was also positive. So, we were sent to the CF Center nearby. We were still so convinced these tests were wrong that we had the CF Center send off more blood for another genetic test. Our two week old boy just looked too healthy to have what they described to us as being CF. Needless to say, that test showed the same two genes - a positive for CF.

We were both angry and hurt. We were mad that the hospital had done this newborn screening that gave us this awful news and took our healthy baby away. It just was not fair. After some time, we got over all of this and soon saw the good. We are now very happy about the screening and see why it was so important. Early diagnosis is ideal. You can start all this preventative care and in our case start pancreatic enzymes so that they get all the nutrients they need. Our son is now 2 and very healthy.

In the case of your 2 1/2 year old, the sweat test is usually accurate; they call it the gold standard. But for ease of mind, if you still doubt, I would do the genetic test (it can't hurt and it keeps you from questioning if they are wrong). This way, if positive, you can start the preventative things with her and make sure she doesn't need enzymes. Before newborn screening, it was the early years of a child that they are diagnosed. But it was because the child gets sick or isn't meeting the growth chart standards. If she does have CF, I hope one day you too can see that it was good that you found out when you did.

 

[charjt]

I know what you mean by it being hard to accept. My husband and I also found out about our son having CF through newborn screening. He's Ped. did not understand that if you had two genes you had it and ordered a sweat test. That was also positive. So, we were sent to the CF Center nearby. We were still so convinced these tests were wrong that we had the CF Center send off more blood for another genetic test. Our two week old boy just looked too healthy to have what they described to us as being CF. Needless to say, that test showed the same two genes - a positive for CF.

We were both angry and hurt. We were mad that the hospital had done this newborn screening that gave us this awful news and took our healthy baby away. It just was not fair. After some time, we got over all of this and soon saw the good. We are now very happy about the screening and see why it was so important. Early diagnosis is ideal. You can start all this preventative care and in our case start pancreatic enzymes so that they get all the nutrients they need. Our son is now 2 and very healthy.

In the case of your 2 1/2 year old, the sweat test is usually accurate; they call it the gold standard. But for ease of mind, if you still doubt, I would do the genetic test (it can't hurt and it keeps you from questioning if they are wrong). This way, if positive, you can start the preventative things with her and make sure she doesn't need enzymes. Before newborn screening, it was the early years of a child that they are diagnosed. But it was because the child gets sick or isn't meeting the growth chart standards. If she does have CF, I hope one day you too can see that it was good that you found out when you did.

 

[charjt]

I know what you mean by it being hard to accept. My husband and I also found out about our son having CF through newborn screening. He's Ped. did not understand that if you had two genes you had it and ordered a sweat test. That was also positive. So, we were sent to the CF Center nearby. We were still so convinced these tests were wrong that we had the CF Center send off more blood for another genetic test. Our two week old boy just looked too healthy to have what they described to us as being CF. Needless to say, that test showed the same two genes - a positive for CF.

We were both angry and hurt. We were mad that the hospital had done this newborn screening that gave us this awful news and took our healthy baby away. It just was not fair. After some time, we got over all of this and soon saw the good. We are now very happy about the screening and see why it was so important. Early diagnosis is ideal. You can start all this preventative care and in our case start pancreatic enzymes so that they get all the nutrients they need. Our son is now 2 and very healthy.

In the case of your 2 1/2 year old, the sweat test is usually accurate; they call it the gold standard. But for ease of mind, if you still doubt, I would do the genetic test (it can't hurt and it keeps you from questioning if they are wrong). This way, if positive, you can start the preventative things with her and make sure she doesn't need enzymes. Before newborn screening, it was the early years of a child that they are diagnosed. But it was because the child gets sick or isn't meeting the growth chart standards. If she does have CF, I hope one day you too can see that it was good that you found out when you did.

 

[charjt]

I know what you mean by it being hard to accept. My husband and I also found out about our son having CF through newborn screening. He's Ped. did not understand that if you had two genes you had it and ordered a sweat test. That was also positive. So, we were sent to the CF Center nearby. We were still so convinced these tests were wrong that we had the CF Center send off more blood for another genetic test. Our two week old boy just looked too healthy to have what they described to us as being CF. Needless to say, that test showed the same two genes - a positive for CF.

We were both angry and hurt. We were mad that the hospital had done this newborn screening that gave us this awful news and took our healthy baby away. It just was not fair. After some time, we got over all of this and soon saw the good. We are now very happy about the screening and see why it was so important. Early diagnosis is ideal. You can start all this preventative care and in our case start pancreatic enzymes so that they get all the nutrients they need. Our son is now 2 and very healthy.

In the case of your 2 1/2 year old, the sweat test is usually accurate; they call it the gold standard. But for ease of mind, if you still doubt, I would do the genetic test (it can't hurt and it keeps you from questioning if they are wrong). This way, if positive, you can start the preventative things with her and make sure she doesn't need enzymes. Before newborn screening, it was the early years of a child that they are diagnosed. But it was because the child gets sick or isn't meeting the growth chart standards. If she does have CF, I hope one day you too can see that it was good that you found out when you did.

 

[charjt]

I know what you mean by it being hard to accept. My husband and I also found out about our son having CF through newborn screening. He's Ped. did not understand that if you had two genes you had it and ordered a sweat test. That was also positive. So, we were sent to the CF Center nearby. We were still so convinced these tests were wrong that we had the CF Center send off more blood for another genetic test. Our two week old boy just looked too healthy to have what they described to us as being CF. Needless to say, that test showed the same two genes - a positive for CF.

We were both angry and hurt. We were mad that the hospital had done this newborn screening that gave us this awful news and took our healthy baby away. It just was not fair. After some time, we got over all of this and soon saw the good. We are now very happy about the screening and see why it was so important. Early diagnosis is ideal. You can start all this preventative care and in our case start pancreatic enzymes so that they get all the nutrients they need. Our son is now 2 and very healthy.

In the case of your 2 1/2 year old, the sweat test is usually accurate; they call it the gold standard. But for ease of mind, if you still doubt, I would do the genetic test (it can't hurt and it keeps you from questioning if they are wrong). This way, if positive, you can start the preventative things with her and make sure she doesn't need enzymes. Before newborn screening, it was the early years of a child that they are diagnosed. But it was because the child gets sick or isn't meeting the growth chart standards. If she does have CF, I hope one day you too can see that it was good that you found out when you did.

 

[charjt]

I know what you mean by it being hard to accept. My husband and I also found out about our son having CF through newborn screening. He's Ped. did not understand that if you had two genes you had it and ordered a sweat test. That was also positive. So, we were sent to the CF Center nearby. We were still so convinced these tests were wrong that we had the CF Center send off more blood for another genetic test. Our two week old boy just looked too healthy to have what they described to us as being CF. Needless to say, that test showed the same two genes - a positive for CF.

We were both angry and hurt. We were mad that the hospital had done this newborn screening that gave us this awful news and took our healthy baby away. It just was not fair. After some time, we got over all of this and soon saw the good. We are now very happy about the screening and see why it was so important. Early diagnosis is ideal. You can start all this preventative care and in our case start pancreatic enzymes so that they get all the nutrients they need. Our son is now 2 and very healthy.

In the case of your 2 1/2 year old, the sweat test is usually accurate; they call it the gold standard. But for ease of mind, if you still doubt, I would do the genetic test (it can't hurt and it keeps you from questioning if they are wrong). This way, if positive, you can start the preventative things with her and make sure she doesn't need enzymes. Before newborn screening, it was the early years of a child that they are diagnosed. But it was because the child gets sick or isn't meeting the growth chart standards. If she does have CF, I hope one day you too can see that it was good that you found out when you did.

 

[lilismom]

I am so sorry you've had such a hard couple of weeks. My daughter was diagnosed last year at the age of 3 and it has been hard to deal with. I found this site a couple of months ago and have found some great info on it.
I'm pretty sure genetic testing is pretty standard after a sweat test is positive. My daughter had it done at the hospital when she was diagnosed, they only found 1 gene through the standard test but at some point we'll have further analysis done.

Please remember you are not alone in this and there are so many people here that can help you get through this.

 

[lilismom]

I am so sorry you've had such a hard couple of weeks. My daughter was diagnosed last year at the age of 3 and it has been hard to deal with. I found this site a couple of months ago and have found some great info on it.
I'm pretty sure genetic testing is pretty standard after a sweat test is positive. My daughter had it done at the hospital when she was diagnosed, they only found 1 gene through the standard test but at some point we'll have further analysis done.

Please remember you are not alone in this and there are so many people here that can help you get through this.