Newly Diagnosed ?

[JORDYSMOM]

Koleen, I know this has been a hard thing to go through.

There are members here, who I've seen post about being tested years ago, and only finding one or no mutations. Then, they get tested again, because symptoms persisted, and they find the other mutation. It's because there are so many more known ones now than there were all of those years ago. It stands to reason that the same thing can happen now. I'm sure we will find more mutations in the future. I believe this is one of the reasons we have so many adults being diagnosed.

I think you are fortunate that your doctors have decided to treat your daughter as if she does have CF. It sounds like she can benefit from the treatments. Just when you think you have this disease figured out, it will pull something different and confuse you all over again. All you can do is keep educating yourself, and move forward.

I hope you find this site as helpful as I have. There is so much info here that you won't hear from a doctor. Keep us posted on your daughter.

 

[JORDYSMOM]

Koleen, I know this has been a hard thing to go through.

There are members here, who I've seen post about being tested years ago, and only finding one or no mutations. Then, they get tested again, because symptoms persisted, and they find the other mutation. It's because there are so many more known ones now than there were all of those years ago. It stands to reason that the same thing can happen now. I'm sure we will find more mutations in the future. I believe this is one of the reasons we have so many adults being diagnosed.

I think you are fortunate that your doctors have decided to treat your daughter as if she does have CF. It sounds like she can benefit from the treatments. Just when you think you have this disease figured out, it will pull something different and confuse you all over again. All you can do is keep educating yourself, and move forward.

I hope you find this site as helpful as I have. There is so much info here that you won't hear from a doctor. Keep us posted on your daughter.

 

[JORDYSMOM]

Koleen, I know this has been a hard thing to go through.

There are members here, who I've seen post about being tested years ago, and only finding one or no mutations. Then, they get tested again, because symptoms persisted, and they find the other mutation. It's because there are so many more known ones now than there were all of those years ago. It stands to reason that the same thing can happen now. I'm sure we will find more mutations in the future. I believe this is one of the reasons we have so many adults being diagnosed.

I think you are fortunate that your doctors have decided to treat your daughter as if she does have CF. It sounds like she can benefit from the treatments. Just when you think you have this disease figured out, it will pull something different and confuse you all over again. All you can do is keep educating yourself, and move forward.

I hope you find this site as helpful as I have. There is so much info here that you won't hear from a doctor. Keep us posted on your daughter.

 

[JORDYSMOM]

Koleen, I know this has been a hard thing to go through.

There are members here, who I've seen post about being tested years ago, and only finding one or no mutations. Then, they get tested again, because symptoms persisted, and they find the other mutation. It's because there are so many more known ones now than there were all of those years ago. It stands to reason that the same thing can happen now. I'm sure we will find more mutations in the future. I believe this is one of the reasons we have so many adults being diagnosed.

I think you are fortunate that your doctors have decided to treat your daughter as if she does have CF. It sounds like she can benefit from the treatments. Just when you think you have this disease figured out, it will pull something different and confuse you all over again. All you can do is keep educating yourself, and move forward.

I hope you find this site as helpful as I have. There is so much info here that you won't hear from a doctor. Keep us posted on your daughter.

 

[JORDYSMOM]

Koleen, I know this has been a hard thing to go through.
<br />
<br />There are members here, who I've seen post about being tested years ago, and only finding one or no mutations. Then, they get tested again, because symptoms persisted, and they find the other mutation. It's because there are so many more known ones now than there were all of those years ago. It stands to reason that the same thing can happen now. I'm sure we will find more mutations in the future. I believe this is one of the reasons we have so many adults being diagnosed.
<br />
<br />I think you are fortunate that your doctors have decided to treat your daughter as if she does have CF. It sounds like she can benefit from the treatments. Just when you think you have this disease figured out, it will pull something different and confuse you all over again. All you can do is keep educating yourself, and move forward.
<br />
<br />I hope you find this site as helpful as I have. There is so much info here that you won't hear from a doctor. Keep us posted on your daughter.

 

[Koleen]

Thank you for replying. That is my biggest prob. I think not understanding everything. From what the doc. told me in her case you can't follow text book rules on CF with her. She falls in that 2% of what John Hopkins call non-classic or atypical. But on the other hand she needs to be watched and when needed if she gets a cold to be treated right away. He wrote up a letter not to long ago to her family doc. with all test results, and how he feels she has a very good future ahead and how she should be treated when she has a cold. Very nice letter.

I think my emtions get the best of me sometimes.
I'm soweird about bacteria now, and people with colds, and clean hands. But yet again she is a child who needs to have fun and play not to keep her in a bubble.

Its such a reliefto hear from others.. and how they deal with things.

 

[Koleen]

Thank you for replying. That is my biggest prob. I think not understanding everything. From what the doc. told me in her case you can't follow text book rules on CF with her. She falls in that 2% of what John Hopkins call non-classic or atypical. But on the other hand she needs to be watched and when needed if she gets a cold to be treated right away. He wrote up a letter not to long ago to her family doc. with all test results, and how he feels she has a very good future ahead and how she should be treated when she has a cold. Very nice letter.

I think my emtions get the best of me sometimes.
I'm soweird about bacteria now, and people with colds, and clean hands. But yet again she is a child who needs to have fun and play not to keep her in a bubble.

Its such a reliefto hear from others.. and how they deal with things.

 

[Koleen]

Thank you for replying. That is my biggest prob. I think not understanding everything. From what the doc. told me in her case you can't follow text book rules on CF with her. She falls in that 2% of what John Hopkins call non-classic or atypical. But on the other hand she needs to be watched and when needed if she gets a cold to be treated right away. He wrote up a letter not to long ago to her family doc. with all test results, and how he feels she has a very good future ahead and how she should be treated when she has a cold. Very nice letter.

I think my emtions get the best of me sometimes.
I'm soweird about bacteria now, and people with colds, and clean hands. But yet again she is a child who needs to have fun and play not to keep her in a bubble.

Its such a reliefto hear from others.. and how they deal with things.

 

[Koleen]

Thank you for replying. That is my biggest prob. I think not understanding everything. From what the doc. told me in her case you can't follow text book rules on CF with her. She falls in that 2% of what John Hopkins call non-classic or atypical. But on the other hand she needs to be watched and when needed if she gets a cold to be treated right away. He wrote up a letter not to long ago to her family doc. with all test results, and how he feels she has a very good future ahead and how she should be treated when she has a cold. Very nice letter.

I think my emtions get the best of me sometimes.
I'm soweird about bacteria now, and people with colds, and clean hands. But yet again she is a child who needs to have fun and play not to keep her in a bubble.

Its such a reliefto hear from others.. and how they deal with things.

 

[Koleen]

Thank you for replying. That is my biggest prob. I think not understanding everything. From what the doc. told me in her case you can't follow text book rules on CF with her. She falls in that 2% of what John Hopkins call non-classic or atypical. But on the other hand she needs to be watched and when needed if she gets a cold to be treated right away. He wrote up a letter not to long ago to her family doc. with all test results, and how he feels she has a very good future ahead and how she should be treated when she has a cold. Very nice letter.
<br />
<br />I think my emtions get the best of me sometimes.
<br />I'm soweird about bacteria now, and people with colds, and clean hands. But yet again she is a child who needs to have fun and play not to keep her in a bubble.
<br />
<br />Its such a reliefto hear from others.. and how they deal with things.

 

[valigirl21]

I completely understand what your going through. My son's "official" CF dx has been changed three times because of no genetic mutations. He is symptomatic, though. <5%tile in ht and <2%tile in wt. PI, recurring resp. issues, and last month tested pos. for staph, w/ elev IGG levels...Still not concretely dx. I know how maddening it is. Just hang in there, and keep asking questions until you get some answers. This is a great site for support.

 

[valigirl21]

I completely understand what your going through. My son's "official" CF dx has been changed three times because of no genetic mutations. He is symptomatic, though. <5%tile in ht and <2%tile in wt. PI, recurring resp. issues, and last month tested pos. for staph, w/ elev IGG levels...Still not concretely dx. I know how maddening it is. Just hang in there, and keep asking questions until you get some answers. This is a great site for support.

 

[valigirl21]

I completely understand what your going through. My son's "official" CF dx has been changed three times because of no genetic mutations. He is symptomatic, though. <5%tile in ht and <2%tile in wt. PI, recurring resp. issues, and last month tested pos. for staph, w/ elev IGG levels...Still not concretely dx. I know how maddening it is. Just hang in there, and keep asking questions until you get some answers. This is a great site for support.

 

[valigirl21]

I completely understand what your going through. My son's "official" CF dx has been changed three times because of no genetic mutations. He is symptomatic, though. <5%tile in ht and <2%tile in wt. PI, recurring resp. issues, and last month tested pos. for staph, w/ elev IGG levels...Still not concretely dx. I know how maddening it is. Just hang in there, and keep asking questions until you get some answers. This is a great site for support.

 

[valigirl21]

I completely understand what your going through. My son's "official" CF dx has been changed three times because of no genetic mutations. He is symptomatic, though. <5%tile in ht and <2%tile in wt. PI, recurring resp. issues, and last month tested pos. for staph, w/ elev IGG levels...Still not concretely dx. I know how maddening it is. Just hang in there, and keep asking questions until you get some answers. This is a great site for support.

 

[Buckeye]

Ok, my son is in the same group as your daughter then. He has very high sweat tests and some symptons of CF, but the full blown Ambry found no mutations.It can very very confusing to get the diagnosis of CF when it is a genetic disease yet you don't have the genetic mutations to go along with it. Our CF Clinic believes that since new mutations are being found every year that they just have not found my son's mutations yet or he has something so similar to CF that they might as well treat it as CF. There is also the theory that there may be another gene that causes CF also, not just the one.We are seen every three months at the CF clinic, he does Albuteral and Flovent twice a day and CPT twice a day. They are on the fence about Pulmozyme for him and we are discussing getting the vest.If you read the posts on this site you can get an idea of what to expect and what to ask your clinic about. And you can always get a second opinion at another CF clinic if you want to see if they would want to do anything differently with your daughter.

 

[Buckeye]

Ok, my son is in the same group as your daughter then. He has very high sweat tests and some symptons of CF, but the full blown Ambry found no mutations.It can very very confusing to get the diagnosis of CF when it is a genetic disease yet you don't have the genetic mutations to go along with it. Our CF Clinic believes that since new mutations are being found every year that they just have not found my son's mutations yet or he has something so similar to CF that they might as well treat it as CF. There is also the theory that there may be another gene that causes CF also, not just the one.We are seen every three months at the CF clinic, he does Albuteral and Flovent twice a day and CPT twice a day. They are on the fence about Pulmozyme for him and we are discussing getting the vest.If you read the posts on this site you can get an idea of what to expect and what to ask your clinic about. And you can always get a second opinion at another CF clinic if you want to see if they would want to do anything differently with your daughter.

 

[Buckeye]

Ok, my son is in the same group as your daughter then. He has very high sweat tests and some symptons of CF, but the full blown Ambry found no mutations.It can very very confusing to get the diagnosis of CF when it is a genetic disease yet you don't have the genetic mutations to go along with it. Our CF Clinic believes that since new mutations are being found every year that they just have not found my son's mutations yet or he has something so similar to CF that they might as well treat it as CF. There is also the theory that there may be another gene that causes CF also, not just the one.We are seen every three months at the CF clinic, he does Albuteral and Flovent twice a day and CPT twice a day. They are on the fence about Pulmozyme for him and we are discussing getting the vest.If you read the posts on this site you can get an idea of what to expect and what to ask your clinic about. And you can always get a second opinion at another CF clinic if you want to see if they would want to do anything differently with your daughter.

 

[Buckeye]

Ok, my son is in the same group as your daughter then. He has very high sweat tests and some symptons of CF, but the full blown Ambry found no mutations.It can very very confusing to get the diagnosis of CF when it is a genetic disease yet you don't have the genetic mutations to go along with it. Our CF Clinic believes that since new mutations are being found every year that they just have not found my son's mutations yet or he has something so similar to CF that they might as well treat it as CF. There is also the theory that there may be another gene that causes CF also, not just the one.We are seen every three months at the CF clinic, he does Albuteral and Flovent twice a day and CPT twice a day. They are on the fence about Pulmozyme for him and we are discussing getting the vest.If you read the posts on this site you can get an idea of what to expect and what to ask your clinic about. And you can always get a second opinion at another CF clinic if you want to see if they would want to do anything differently with your daughter.

 

[Buckeye]

Ok, my son is in the same group as your daughter then. He has very high sweat tests and some symptons of CF, but the full blown Ambry found no mutations.<p>It can very very confusing to get the diagnosis of CF when it is a genetic disease yet you don't have the genetic mutations to go along with it. Our CF Clinic believes that since new mutations are being found every year that they just have not found my son's mutations yet or he has something so similar to CF that they might as well treat it as CF. There is also the theory that there may be another gene that causes CF also, not just the one.<p>We are seen every three months at the CF clinic, he does Albuteral and Flovent twice a day and CPT twice a day. They are on the fence about Pulmozyme for him and we are discussing getting the vest.<p>If you read the posts on this site you can get an idea of what to expect and what to ask your clinic about. And you can always get a second opinion at another CF clinic if you want to see if they would want to do anything differently with your daughter.