Hi Everyone!! I am new to this site and I could really use some advice. My son is 4 years old. When he was an infant he always had digestive issues and never had a formed stool. About a year ago, his digestive problems got really bad and the doctors found him to be pancreatic insufficient. I was shocked because he had already been tested for CF because he had so many pneumonias and bronchitus so many time I lost count. We have been tested for one disease after the other and feel so lost. We left our doctor because he was doing nothing for my son at all but treating him for asthma. We went to a new doctor at an accredited CF center ( the last doc was at an accredited center as well) and she immediately began treating him for CF. We have all the meds, vest and enzymes and he is doing so much better. He had a borderline sweat test and 32 mutations were negative. We are awaiting results from quest on more mutations but I have this weird feeling about it. Almost like they won't find anything!! We have to battle the insurance company for everything because we don't have a diagnosis!! Any one else experiencing the same thing? Sometimes I feel so alone. It is even driving my husband crazy as well because we don't know what is wrong with our baby!! Thank you so much for your input!!
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We have no answers and really need support!!
- Thread starter martysmom
- Start date
Hi Everyone!! I am new to this site and I could really use some advice. My son is 4 years old. When he was an infant he always had digestive issues and never had a formed stool. About a year ago, his digestive problems got really bad and the doctors found him to be pancreatic insufficient. I was shocked because he had already been tested for CF because he had so many pneumonias and bronchitus so many time I lost count. We have been tested for one disease after the other and feel so lost. We left our doctor because he was doing nothing for my son at all but treating him for asthma. We went to a new doctor at an accredited CF center ( the last doc was at an accredited center as well) and she immediately began treating him for CF. We have all the meds, vest and enzymes and he is doing so much better. He had a borderline sweat test and 32 mutations were negative. We are awaiting results from quest on more mutations but I have this weird feeling about it. Almost like they won't find anything!! We have to battle the insurance company for everything because we don't have a diagnosis!! Any one else experiencing the same thing? Sometimes I feel so alone. It is even driving my husband crazy as well because we don't know what is wrong with our baby!! Thank you so much for your input!!
Hi Everyone!! I am new to this site and I could really use some advice. My son is 4 years old. When he was an infant he always had digestive issues and never had a formed stool. About a year ago, his digestive problems got really bad and the doctors found him to be pancreatic insufficient. I was shocked because he had already been tested for CF because he had so many pneumonias and bronchitus so many time I lost count. We have been tested for one disease after the other and feel so lost. We left our doctor because he was doing nothing for my son at all but treating him for asthma. We went to a new doctor at an accredited CF center ( the last doc was at an accredited center as well) and she immediately began treating him for CF. We have all the meds, vest and enzymes and he is doing so much better. He had a borderline sweat test and 32 mutations were negative. We are awaiting results from quest on more mutations but I have this weird feeling about it. Almost like they won't find anything!! We have to battle the insurance company for everything because we don't have a diagnosis!! Any one else experiencing the same thing? Sometimes I feel so alone. It is even driving my husband crazy as well because we don't know what is wrong with our baby!! Thank you so much for your input!!
M
Mommafirst
Guest
I can only imagine how frustrating this must be. Its hard enough to know there is something "wrong" with your child, but to not have a confirmation of what it is -- ugh, so frustrating.
My daughter had a borderline sweat test. So have MANY others around here. I'm glad that your son is getting good treatment now and they sent the bloodwork to quest. I'm not sure if quest does a complete sequencing with deletions and duplications, but I know Ambry does. If quest doesn't give you the answers, you may be able to get the remaining mutations done there. There are over 1600 mutations, so to rule out the 32 isn't really all that meaningful (although they do account for the large majority of CF patients).
I hope you get some answers and I hope you can connect with some others that understand how hard it is to get this diagnosis confirmed.
My daughter had a borderline sweat test. So have MANY others around here. I'm glad that your son is getting good treatment now and they sent the bloodwork to quest. I'm not sure if quest does a complete sequencing with deletions and duplications, but I know Ambry does. If quest doesn't give you the answers, you may be able to get the remaining mutations done there. There are over 1600 mutations, so to rule out the 32 isn't really all that meaningful (although they do account for the large majority of CF patients).
I hope you get some answers and I hope you can connect with some others that understand how hard it is to get this diagnosis confirmed.
M
Mommafirst
Guest
I can only imagine how frustrating this must be. Its hard enough to know there is something "wrong" with your child, but to not have a confirmation of what it is -- ugh, so frustrating.
My daughter had a borderline sweat test. So have MANY others around here. I'm glad that your son is getting good treatment now and they sent the bloodwork to quest. I'm not sure if quest does a complete sequencing with deletions and duplications, but I know Ambry does. If quest doesn't give you the answers, you may be able to get the remaining mutations done there. There are over 1600 mutations, so to rule out the 32 isn't really all that meaningful (although they do account for the large majority of CF patients).
I hope you get some answers and I hope you can connect with some others that understand how hard it is to get this diagnosis confirmed.
My daughter had a borderline sweat test. So have MANY others around here. I'm glad that your son is getting good treatment now and they sent the bloodwork to quest. I'm not sure if quest does a complete sequencing with deletions and duplications, but I know Ambry does. If quest doesn't give you the answers, you may be able to get the remaining mutations done there. There are over 1600 mutations, so to rule out the 32 isn't really all that meaningful (although they do account for the large majority of CF patients).
I hope you get some answers and I hope you can connect with some others that understand how hard it is to get this diagnosis confirmed.
M
Mommafirst
Guest
I can only imagine how frustrating this must be. Its hard enough to know there is something "wrong" with your child, but to not have a confirmation of what it is -- ugh, so frustrating.
<br />
<br />My daughter had a borderline sweat test. So have MANY others around here. I'm glad that your son is getting good treatment now and they sent the bloodwork to quest. I'm not sure if quest does a complete sequencing with deletions and duplications, but I know Ambry does. If quest doesn't give you the answers, you may be able to get the remaining mutations done there. There are over 1600 mutations, so to rule out the 32 isn't really all that meaningful (although they do account for the large majority of CF patients).
<br />
<br />I hope you get some answers and I hope you can connect with some others that understand how hard it is to get this diagnosis confirmed.
<br />
<br />
<br />My daughter had a borderline sweat test. So have MANY others around here. I'm glad that your son is getting good treatment now and they sent the bloodwork to quest. I'm not sure if quest does a complete sequencing with deletions and duplications, but I know Ambry does. If quest doesn't give you the answers, you may be able to get the remaining mutations done there. There are over 1600 mutations, so to rule out the 32 isn't really all that meaningful (although they do account for the large majority of CF patients).
<br />
<br />I hope you get some answers and I hope you can connect with some others that understand how hard it is to get this diagnosis confirmed.
<br />
Thank you so much! I told the doctor I wanted the ambry test. I even called ambry myself and I told everyone that I just wanted to pay for the test! His doctor told me quest is the way to go so I listened. I just have a bad feeling. I guess because we have been going through this for so long, I can't imagine having an answer. The GI doc told us he thinks it is CF and everything fits. I fought for the treatments and I will keep fighting to keep them. No matter what the test shows! Our insurance denied the vest but I am fighting it. Hopefully they will realize that all his hospitlizations could buy 20 vests!! Thanks for letting me vent!! I already feel better! I fought and they approved all the nebulizer meds and the enzymes! Hill Rom sent the vest while we wait for approval so at least he have it for now. Hope your daughter is doing well! She is adorable!!
Thank you so much! I told the doctor I wanted the ambry test. I even called ambry myself and I told everyone that I just wanted to pay for the test! His doctor told me quest is the way to go so I listened. I just have a bad feeling. I guess because we have been going through this for so long, I can't imagine having an answer. The GI doc told us he thinks it is CF and everything fits. I fought for the treatments and I will keep fighting to keep them. No matter what the test shows! Our insurance denied the vest but I am fighting it. Hopefully they will realize that all his hospitlizations could buy 20 vests!! Thanks for letting me vent!! I already feel better! I fought and they approved all the nebulizer meds and the enzymes! Hill Rom sent the vest while we wait for approval so at least he have it for now. Hope your daughter is doing well! She is adorable!!
Thank you so much! I told the doctor I wanted the ambry test. I even called ambry myself and I told everyone that I just wanted to pay for the test! His doctor told me quest is the way to go so I listened. I just have a bad feeling. I guess because we have been going through this for so long, I can't imagine having an answer. The GI doc told us he thinks it is CF and everything fits. I fought for the treatments and I will keep fighting to keep them. No matter what the test shows! Our insurance denied the vest but I am fighting it. Hopefully they will realize that all his hospitlizations could buy 20 vests!! Thanks for letting me vent!! I already feel better! I fought and they approved all the nebulizer meds and the enzymes! Hill Rom sent the vest while we wait for approval so at least he have it for now. Hope your daughter is doing well! She is adorable!!
BaylorCrew07
New member
I'm sorry they are putting you through so many loop holes just to get a diagnosis <img src="i/expressions/face-icon-small-sad.gif" border="0">
If you do not get a definitive answer from the quest results, I would definitely recommend continuing to fight for the Ambry; that's the only way I was able to be diagnosed -- I had a borderline sweat test as well.
Please keep us posted on how your son is doing and your results; we are always here to listen <img src="i/expressions/face-icon-small-smile.gif" border="0">
<img src="i/expressions/heart.gif" border="0">
If you do not get a definitive answer from the quest results, I would definitely recommend continuing to fight for the Ambry; that's the only way I was able to be diagnosed -- I had a borderline sweat test as well.
Please keep us posted on how your son is doing and your results; we are always here to listen <img src="i/expressions/face-icon-small-smile.gif" border="0">
<img src="i/expressions/heart.gif" border="0">
BaylorCrew07
New member
I'm sorry they are putting you through so many loop holes just to get a diagnosis <img src="i/expressions/face-icon-small-sad.gif" border="0">
If you do not get a definitive answer from the quest results, I would definitely recommend continuing to fight for the Ambry; that's the only way I was able to be diagnosed -- I had a borderline sweat test as well.
Please keep us posted on how your son is doing and your results; we are always here to listen <img src="i/expressions/face-icon-small-smile.gif" border="0">
<img src="i/expressions/heart.gif" border="0">
If you do not get a definitive answer from the quest results, I would definitely recommend continuing to fight for the Ambry; that's the only way I was able to be diagnosed -- I had a borderline sweat test as well.
Please keep us posted on how your son is doing and your results; we are always here to listen <img src="i/expressions/face-icon-small-smile.gif" border="0">
<img src="i/expressions/heart.gif" border="0">
BaylorCrew07
New member
I'm sorry they are putting you through so many loop holes just to get a diagnosis <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />If you do not get a definitive answer from the quest results, I would definitely recommend continuing to fight for the Ambry; that's the only way I was able to be diagnosed -- I had a borderline sweat test as well.
<br />
<br />Please keep us posted on how your son is doing and your results; we are always here to listen <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br /><img src="i/expressions/heart.gif" border="0">
<br />
<br />If you do not get a definitive answer from the quest results, I would definitely recommend continuing to fight for the Ambry; that's the only way I was able to be diagnosed -- I had a borderline sweat test as well.
<br />
<br />Please keep us posted on how your son is doing and your results; we are always here to listen <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br /><img src="i/expressions/heart.gif" border="0">
Thanks! Everyone on here is so nice and wonderful! I am glad I found this site. We have to wait a while to find out the quest results. I was told it takes a while. We went to the GI doc and he told me he is pretty certain he has CF. I kind of know that but it is weird to hear. The weird thing is (and this has been bothering me) is that a year and a half ago he had a sweat test. The results were inconclusive because they didn't have enough sweat. When we went to the new doctor, she did another sweat test and the results were borderline. She told me that they did not collect as much sweat as she would have liked but it was just about enough. Do you guys think I should request another sweat test if we don't get answers from quest? I am thinking if they get a better sample it might be a more accurate result. To me he tastes very salty and with all his other symptoms, I am beginning to wonder why they just can't figure this out. It wasn't until we found out about the pancreatic insufficiency that I began to accept CF as his diagnosis. Sometimes I just don't know what else to think. Thanks all and I hope you are all well!!
Thanks! Everyone on here is so nice and wonderful! I am glad I found this site. We have to wait a while to find out the quest results. I was told it takes a while. We went to the GI doc and he told me he is pretty certain he has CF. I kind of know that but it is weird to hear. The weird thing is (and this has been bothering me) is that a year and a half ago he had a sweat test. The results were inconclusive because they didn't have enough sweat. When we went to the new doctor, she did another sweat test and the results were borderline. She told me that they did not collect as much sweat as she would have liked but it was just about enough. Do you guys think I should request another sweat test if we don't get answers from quest? I am thinking if they get a better sample it might be a more accurate result. To me he tastes very salty and with all his other symptoms, I am beginning to wonder why they just can't figure this out. It wasn't until we found out about the pancreatic insufficiency that I began to accept CF as his diagnosis. Sometimes I just don't know what else to think. Thanks all and I hope you are all well!!
Thanks! Everyone on here is so nice and wonderful! I am glad I found this site. We have to wait a while to find out the quest results. I was told it takes a while. We went to the GI doc and he told me he is pretty certain he has CF. I kind of know that but it is weird to hear. The weird thing is (and this has been bothering me) is that a year and a half ago he had a sweat test. The results were inconclusive because they didn't have enough sweat. When we went to the new doctor, she did another sweat test and the results were borderline. She told me that they did not collect as much sweat as she would have liked but it was just about enough. Do you guys think I should request another sweat test if we don't get answers from quest? I am thinking if they get a better sample it might be a more accurate result. To me he tastes very salty and with all his other symptoms, I am beginning to wonder why they just can't figure this out. It wasn't until we found out about the pancreatic insufficiency that I began to accept CF as his diagnosis. Sometimes I just don't know what else to think. Thanks all and I hope you are all well!!
Hi thanks for the advice! We have been doing CPT for over two years now. His doctors all felt that the vest would be more affective for my child. He had a CT scan that showed large sections of the lungs being comprimised from all the infections. I am glad to hear CPT works for you. It would be nice to just do that and not have to battle insurance, but it is the way it is. He has been doing fantastic with the vest and it is great to see him feeling well.
Hi thanks for the advice! We have been doing CPT for over two years now. His doctors all felt that the vest would be more affective for my child. He had a CT scan that showed large sections of the lungs being comprimised from all the infections. I am glad to hear CPT works for you. It would be nice to just do that and not have to battle insurance, but it is the way it is. He has been doing fantastic with the vest and it is great to see him feeling well.