Question about genetic variants....

[christenk]

I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!

 

[christenk]

I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!

 

[christenk]

I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!

 

[christenk]

I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!

 

[christenk]

I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!

 

[christenk]

I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!

 

[blindhearted]

Hey christenk. Welcome to the form. I do not know the answer to you question but I suggest that you go to the Family Section and post your question in the Ambry topic (Welcome Ambry Genetics). A guy from Ambry, his name is Steve, should be able to answer this question for you.

 

[blindhearted]

Hey christenk. Welcome to the form. I do not know the answer to you question but I suggest that you go to the Family Section and post your question in the Ambry topic (Welcome Ambry Genetics). A guy from Ambry, his name is Steve, should be able to answer this question for you.

 

[blindhearted]

Hey christenk. Welcome to the form. I do not know the answer to you question but I suggest that you go to the Family Section and post your question in the Ambry topic (Welcome Ambry Genetics). A guy from Ambry, his name is Steve, should be able to answer this question for you.

 

[blindhearted]

Hey christenk. Welcome to the form. I do not know the answer to you question but I suggest that you go to the Family Section and post your question in the Ambry topic (Welcome Ambry Genetics). A guy from Ambry, his name is Steve, should be able to answer this question for you.

 

[blindhearted]

Hey christenk. Welcome to the form. I do not know the answer to you question but I suggest that you go to the Family Section and post your question in the Ambry topic (Welcome Ambry Genetics). A guy from Ambry, his name is Steve, should be able to answer this question for you.

 

[blindhearted]

Hey christenk. Welcome to the form. I do not know the answer to you question but I suggest that you go to the Family Section and post your question in the Ambry topic (Welcome Ambry Genetics). A guy from Ambry, his name is Steve, should be able to answer this question for you.

 

[mom2lillian]

I woudl never consider her to not have cf as you just never know what symptoms will develop for any certain person/mutation etc. YOu may want to read my blog titled atypical vs mild vs lucky.

I am an adult diagnosis so I understnad a bit of what you are going through. We are currently working on a project to amass as large a group of individuals with my mutation as we can so that we can get some sort of idea of what 'might' be expected to try in the hopes of answering that question for parents like you.

I dont know what options the doctors are laying in front of you but I woudl go with a pro-active approach.

take care

 

[mom2lillian]

I woudl never consider her to not have cf as you just never know what symptoms will develop for any certain person/mutation etc. YOu may want to read my blog titled atypical vs mild vs lucky.

I am an adult diagnosis so I understnad a bit of what you are going through. We are currently working on a project to amass as large a group of individuals with my mutation as we can so that we can get some sort of idea of what 'might' be expected to try in the hopes of answering that question for parents like you.

I dont know what options the doctors are laying in front of you but I woudl go with a pro-active approach.

take care

 

[mom2lillian]

I woudl never consider her to not have cf as you just never know what symptoms will develop for any certain person/mutation etc. YOu may want to read my blog titled atypical vs mild vs lucky.

I am an adult diagnosis so I understnad a bit of what you are going through. We are currently working on a project to amass as large a group of individuals with my mutation as we can so that we can get some sort of idea of what 'might' be expected to try in the hopes of answering that question for parents like you.

I dont know what options the doctors are laying in front of you but I woudl go with a pro-active approach.

take care

 

[mom2lillian]

I woudl never consider her to not have cf as you just never know what symptoms will develop for any certain person/mutation etc. YOu may want to read my blog titled atypical vs mild vs lucky.

I am an adult diagnosis so I understnad a bit of what you are going through. We are currently working on a project to amass as large a group of individuals with my mutation as we can so that we can get some sort of idea of what 'might' be expected to try in the hopes of answering that question for parents like you.

I dont know what options the doctors are laying in front of you but I woudl go with a pro-active approach.

take care

 

[mom2lillian]

I woudl never consider her to not have cf as you just never know what symptoms will develop for any certain person/mutation etc. YOu may want to read my blog titled atypical vs mild vs lucky.

I am an adult diagnosis so I understnad a bit of what you are going through. We are currently working on a project to amass as large a group of individuals with my mutation as we can so that we can get some sort of idea of what 'might' be expected to try in the hopes of answering that question for parents like you.

I dont know what options the doctors are laying in front of you but I woudl go with a pro-active approach.

take care

 

[mom2lillian]

I woudl never consider her to not have cf as you just never know what symptoms will develop for any certain person/mutation etc. YOu may want to read my blog titled atypical vs mild vs lucky.

I am an adult diagnosis so I understnad a bit of what you are going through. We are currently working on a project to amass as large a group of individuals with my mutation as we can so that we can get some sort of idea of what 'might' be expected to try in the hopes of answering that question for parents like you.

I dont know what options the doctors are laying in front of you but I woudl go with a pro-active approach.

take care