debs2girls
New member
HI, I am just wondering how the appointment went.
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My son has a appointment tomorrow morning at the CF Dr
- Thread starter mama9909
- Start date
debs2girls
New member
HI, I am just wondering how the appointment went.
debs2girls
New member
HI, I am just wondering how the appointment went.
debs2girls
New member
HI, I am just wondering how the appointment went.
debs2girls
New member
HI, I am just wondering how the appointment went.
Thank you so much for all your advice and concern!!!! We saw the CF doctor on Monday, they did the bloodwork to test for CF(they said it was the broad spectrum and the doctor said that it tests for all known mutations), I dont know if that is the Ambry Amplified, they did a second fecal elastase, they are redoing the sweat test next week and he will also be seeing the CF nutritionist next week. The GI doctor put him on enzymes today. I was so anxious to get started on them today to see how well they work...but the pharmacy has to order the medication and will hopefully have it in tomorrow. So I guess now its just a wait and see...The doctor did say that it was a possibility that we may get the results back from the CF tests and have more questions rather than more answers. I dont know what exactly that means. But I will keep you up to date on whats going on. Thanks again so much!!!
Thank you so much for all your advice and concern!!!! We saw the CF doctor on Monday, they did the bloodwork to test for CF(they said it was the broad spectrum and the doctor said that it tests for all known mutations), I dont know if that is the Ambry Amplified, they did a second fecal elastase, they are redoing the sweat test next week and he will also be seeing the CF nutritionist next week. The GI doctor put him on enzymes today. I was so anxious to get started on them today to see how well they work...but the pharmacy has to order the medication and will hopefully have it in tomorrow. So I guess now its just a wait and see...The doctor did say that it was a possibility that we may get the results back from the CF tests and have more questions rather than more answers. I dont know what exactly that means. But I will keep you up to date on whats going on. Thanks again so much!!!
Thank you so much for all your advice and concern!!!! We saw the CF doctor on Monday, they did the bloodwork to test for CF(they said it was the broad spectrum and the doctor said that it tests for all known mutations), I dont know if that is the Ambry Amplified, they did a second fecal elastase, they are redoing the sweat test next week and he will also be seeing the CF nutritionist next week. The GI doctor put him on enzymes today. I was so anxious to get started on them today to see how well they work...but the pharmacy has to order the medication and will hopefully have it in tomorrow. So I guess now its just a wait and see...The doctor did say that it was a possibility that we may get the results back from the CF tests and have more questions rather than more answers. I dont know what exactly that means. But I will keep you up to date on whats going on. Thanks again so much!!!
Thank you so much for all your advice and concern!!!! We saw the CF doctor on Monday, they did the bloodwork to test for CF(they said it was the broad spectrum and the doctor said that it tests for all known mutations), I dont know if that is the Ambry Amplified, they did a second fecal elastase, they are redoing the sweat test next week and he will also be seeing the CF nutritionist next week. The GI doctor put him on enzymes today. I was so anxious to get started on them today to see how well they work...but the pharmacy has to order the medication and will hopefully have it in tomorrow. So I guess now its just a wait and see...The doctor did say that it was a possibility that we may get the results back from the CF tests and have more questions rather than more answers. I dont know what exactly that means. But I will keep you up to date on whats going on. Thanks again so much!!!
Thank you so much for all your advice and concern!!!! We saw the CF doctor on Monday, they did the bloodwork to test for CF(they said it was the broad spectrum and the doctor said that it tests for all known mutations), I dont know if that is the Ambry Amplified, they did a second fecal elastase, they are redoing the sweat test next week and he will also be seeing the CF nutritionist next week. The GI doctor put him on enzymes today. I was so anxious to get started on them today to see how well they work...but the pharmacy has to order the medication and will hopefully have it in tomorrow. So I guess now its just a wait and see...The doctor did say that it was a possibility that we may get the results back from the CF tests and have more questions rather than more answers. I dont know what exactly that means. But I will keep you up to date on whats going on. Thanks again so much!!!
The reason some people do sweat tests after blood work is although blood work can correctly idenitify if there are 2 cf mutations if extensive sequencing is done, it can not tell you about CFTR functionality. CFTR functionality can be determined by sweat test results. It is unlikely that cf symptoms will present agressively until the CFTR disfunctions somewhat. It can change in a person over time.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
The reason some people do sweat tests after blood work is although blood work can correctly idenitify if there are 2 cf mutations if extensive sequencing is done, it can not tell you about CFTR functionality. CFTR functionality can be determined by sweat test results. It is unlikely that cf symptoms will present agressively until the CFTR disfunctions somewhat. It can change in a person over time.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
The reason some people do sweat tests after blood work is although blood work can correctly idenitify if there are 2 cf mutations if extensive sequencing is done, it can not tell you about CFTR functionality. CFTR functionality can be determined by sweat test results. It is unlikely that cf symptoms will present agressively until the CFTR disfunctions somewhat. It can change in a person over time.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
The reason some people do sweat tests after blood work is although blood work can correctly idenitify if there are 2 cf mutations if extensive sequencing is done, it can not tell you about CFTR functionality. CFTR functionality can be determined by sweat test results. It is unlikely that cf symptoms will present agressively until the CFTR disfunctions somewhat. It can change in a person over time.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
The reason some people do sweat tests after blood work is although blood work can correctly idenitify if there are 2 cf mutations if extensive sequencing is done, it can not tell you about CFTR functionality. CFTR functionality can be determined by sweat test results. It is unlikely that cf symptoms will present agressively until the CFTR disfunctions somewhat. It can change in a person over time.
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<br />Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.
<br />
<br />Also some mutations are a given for misfunction - whether now or later. So some doctors will stop at genetic test results if they feel they can definitively answer the question of how to care for the child. Sometimes a child may have two mutations but absolutely no symptoms of cf. In this case a sweat test is recommended because technically a diagnosis of cf can not be made on the mutations alone. It must be paired with either a positive sweat test and/or symptoms...or a history of cf in a sibling. I hope that helps.