Read through the Welcome Ambry Genetics thread at the top of the Families section and I know that Steve has explained about the 5T and 7T info. I do remember that 7T is perfectly normal and does not cause CF (vast majority of people have 7T) and 5T can act like a mutation if it has a certain number of TG repeats. I think there is an adult on this site that had one mutation on one gene and then a bunch of 5T TG repeats on the other gene?? Best bet is asking Steve from Ambry though - he's <b>VERY</b> knowledgable.
I need answers....
- Thread starter holmfamily1992
- Start date
Read through the Welcome Ambry Genetics thread at the top of the Families section and I know that Steve has explained about the 5T and 7T info. I do remember that 7T is perfectly normal and does not cause CF (vast majority of people have 7T) and 5T can act like a mutation if it has a certain number of TG repeats. I think there is an adult on this site that had one mutation on one gene and then a bunch of 5T TG repeats on the other gene?? Best bet is asking Steve from Ambry though - he's <b>VERY</b> knowledgable.
Read through the Welcome Ambry Genetics thread at the top of the Families section and I know that Steve has explained about the 5T and 7T info. I do remember that 7T is perfectly normal and does not cause CF (vast majority of people have 7T) and 5T can act like a mutation if it has a certain number of TG repeats. I think there is an adult on this site that had one mutation on one gene and then a bunch of 5T TG repeats on the other gene?? Best bet is asking Steve from Ambry though - he's <b>VERY</b> knowledgable.
Read through the Welcome Ambry Genetics thread at the top of the Families section and I know that Steve has explained about the 5T and 7T info. I do remember that 7T is perfectly normal and does not cause CF (vast majority of people have 7T) and 5T can act like a mutation if it has a certain number of TG repeats. I think there is an adult on this site that had one mutation on one gene and then a bunch of 5T TG repeats on the other gene?? Best bet is asking Steve from Ambry though - he's <b>VERY</b> knowledgable.
Read through the Welcome Ambry Genetics thread at the top of the Families section and I know that Steve has explained about the 5T and 7T info. I do remember that 7T is perfectly normal and does not cause CF (vast majority of people have 7T) and 5T can act like a mutation if it has a certain number of TG repeats. I think there is an adult on this site that had one mutation on one gene and then a bunch of 5T TG repeats on the other gene?? Best bet is asking Steve from Ambry though - he's <b>VERY</b> knowledgable.
clawson5104
New member
Hi Tina, My son was diagnosed almost a year ago w/ atypical CF. He has R117H and 5T/11TG variant. I too (and still am to some extent) was SEVERLY CONFUSED. You definitely need to post a message to Steve on the Ambry forum. He is a HUGE help. He told me R117H is the mutation....and the 5T/11TG sorta "pretends"to be a second mutation, causing CF symptoms.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally...
just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run.
So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally...
just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run. So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
clawson5104
New member
Hi Tina, My son was diagnosed almost a year ago w/ atypical CF. He has R117H and 5T/11TG variant. I too (and still am to some extent) was SEVERLY CONFUSED. You definitely need to post a message to Steve on the Ambry forum. He is a HUGE help. He told me R117H is the mutation....and the 5T/11TG sorta "pretends"to be a second mutation, causing CF symptoms.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally... just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run.
So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally...
just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run. So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
clawson5104
New member
Hi Tina, My son was diagnosed almost a year ago w/ atypical CF. He has R117H and 5T/11TG variant. I too (and still am to some extent) was SEVERLY CONFUSED. You definitely need to post a message to Steve on the Ambry forum. He is a HUGE help. He told me R117H is the mutation....and the 5T/11TG sorta "pretends"to be a second mutation, causing CF symptoms.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally... just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run.
So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally...
just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run. So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
clawson5104
New member
Hi Tina, My son was diagnosed almost a year ago w/ atypical CF. He has R117H and 5T/11TG variant. I too (and still am to some extent) was SEVERLY CONFUSED. You definitely need to post a message to Steve on the Ambry forum. He is a HUGE help. He told me R117H is the mutation....and the 5T/11TG sorta "pretends"to be a second mutation, causing CF symptoms.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally... just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run.
So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally...
just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run. So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
Prayers for you, and your family.
clawson5104
New member
Hi Tina, My son was diagnosed almost a year ago w/ atypical CF. He has R117H and 5T/11TG variant. I too (and still am to some extent) was SEVERLY CONFUSED. You definitely need to post a message to Steve on the Ambry forum. He is a HUGE help. He told me R117H is the mutation....and the 5T/11TG sorta "pretends"to be a second mutation, causing CF symptoms.
<br />
<br />All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
<br />
<br />That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
<br />
<br />But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
<br />
<br />What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally... just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run.
<br />
<br />So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
<br />
<br />Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
<br />
<br />Prayers for you, and your family.
<br />
<br />All CFers are NOT the same, even with the same mutations. Some have lung issues, some dont, some have digestive issues, some dont, and some have it all! You definitely need to get him into an accredited CF clinic. I honestly donno what I would do without my son's CF clinic, and even more the cf.com family!
<br />
<br />That being said, I was told by CF clinic, he is "atypical" but having some symptoms of CF, but not severe. He also has asthma, so they would treat his asthma, and the CF symptoms he already had, and yet do preventive care for him in the meantime, for he was very mild. They would "watch" him closely, and be treated as a CFer, just a very mild case....prevention is HUGE here. We met with genetic counselor, who told me...."he shouldn't have any problems, he may have reproductive issues when he was older, that's all. Just test that later." well, I can say this, we have made it thru this year so far without a hospital stay......lol.
<br />
<br />But his symptoms are worse now, he still seems to digest food, he just doesn't eat much of it, so he is underweight. (25.1 lbs) height is good. But last month his sinuses were full, lung xray a little hazier, and bowels were full. 20 days of antibiotics, laxative daily, and started pulmozyme. So his case is still "mild" just not as mild as we expected. He is also anemic.
<br />
<br />What I am trying to tell you, is that with CF there is no crystal ball, especially with "atypical CF". You need to get him into a CF clinic, that's for sure. Take a deep breath, and take it day by day. It's okay to panic sometimes, your a mommy. Learn as much as you can, and especially learn what's "normal" for your son. So you can tell when somethings wrong. Use your mommy instincts. And EVERYTHING IS GONNA BE OKAY. Even with CF. It is sooooooo OVERWHELMING at first. And it doesn't help NOT knowing what to expect. Enjoy your son. It could be worse. Look at those parents who have kids with cancer......they too donno what to expect, and it can come back over and over again. At least with CF....there's no going into remission with high hopes, just to start over again. CF is there and will always be there. Do all the preventive care possible. If they start breathing treatments, DO ALL OF THEM, dont skip any, If they start percussion therapy,((this is where you beat your kid legally...
just kidding you can look that up it's called "clapping" some even use vests)), DO IT EVERYTIME, even if your hands cramp, it will make a difference in the long run. <br />
<br />So post to Steve, get your son in a CF clinic for sure, and HANG IN THERE! Come here, there are soooooooooo many people willing to lend an ear, give advice, and share experience. Yahoo Groups also has a CF mommies group too, check that out. I have actually got on here at 2 am and posted for advice, and it was a HUGE help. and remember all cases are different, and CFers can live full rich lives. play sports, or whatever they wanna do! You just gotta watch them a little closer.
<br />
<br />Sorry this is so long, I hope I helped somehow. (I feel better anyways..lol)
<br />
<br />Prayers for you, and your family.
V
valigirl21
Guest
I kno I'm a day l8 and a dollar short, but my son has been diagnosed with "CF w/ unknown mutations." He presented as an asthma patient as an infant, and was treated as such until he was eight. Same symptoms as your son, except the respiratory symptoms. The only thing I can tell you that may be helpful is if your doctors don't want to treat him as a CF patient (because mine does even though he has no mutations) I would find a CF specialist who will. Proper treatment is the most important thing for your child. I don't wish this journey on anyone, but everyone here has taken it, too. Feel free to ask ?, vent , or whatever you need to help you deal with this trying time. We're all here to help each other.
V
valigirl21
Guest
I kno I'm a day l8 and a dollar short, but my son has been diagnosed with "CF w/ unknown mutations." He presented as an asthma patient as an infant, and was treated as such until he was eight. Same symptoms as your son, except the respiratory symptoms. The only thing I can tell you that may be helpful is if your doctors don't want to treat him as a CF patient (because mine does even though he has no mutations) I would find a CF specialist who will. Proper treatment is the most important thing for your child. I don't wish this journey on anyone, but everyone here has taken it, too. Feel free to ask ?, vent , or whatever you need to help you deal with this trying time. We're all here to help each other.
V
valigirl21
Guest
I kno I'm a day l8 and a dollar short, but my son has been diagnosed with "CF w/ unknown mutations." He presented as an asthma patient as an infant, and was treated as such until he was eight. Same symptoms as your son, except the respiratory symptoms. The only thing I can tell you that may be helpful is if your doctors don't want to treat him as a CF patient (because mine does even though he has no mutations) I would find a CF specialist who will. Proper treatment is the most important thing for your child. I don't wish this journey on anyone, but everyone here has taken it, too. Feel free to ask ?, vent , or whatever you need to help you deal with this trying time. We're all here to help each other.
V
valigirl21
Guest
I kno I'm a day l8 and a dollar short, but my son has been diagnosed with "CF w/ unknown mutations." He presented as an asthma patient as an infant, and was treated as such until he was eight. Same symptoms as your son, except the respiratory symptoms. The only thing I can tell you that may be helpful is if your doctors don't want to treat him as a CF patient (because mine does even though he has no mutations) I would find a CF specialist who will. Proper treatment is the most important thing for your child. I don't wish this journey on anyone, but everyone here has taken it, too. Feel free to ask ?, vent , or whatever you need to help you deal with this trying time. We're all here to help each other.
V
valigirl21
Guest
I kno I'm a day l8 and a dollar short, but my son has been diagnosed with "CF w/ unknown mutations." He presented as an asthma patient as an infant, and was treated as such until he was eight. Same symptoms as your son, except the respiratory symptoms. The only thing I can tell you that may be helpful is if your doctors don't want to treat him as a CF patient (because mine does even though he has no mutations) I would find a CF specialist who will. Proper treatment is the most important thing for your child. I don't wish this journey on anyone, but everyone here has taken it, too. Feel free to ask ?, vent , or whatever you need to help you deal with this trying time. We're all here to help each other.
H
hopesiris
Guest
I have Delta F508 on one chromosome and 5T with 12 repeats on the opposite chromosome. I have a CF diagnosis since the 5T/TG12 acts like a mild to moderate mutation when combined with a more severe mutation like DF508.
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
H
hopesiris
Guest
I have Delta F508 on one chromosome and 5T with 12 repeats on the opposite chromosome. I have a CF diagnosis since the 5T/TG12 acts like a mild to moderate mutation when combined with a more severe mutation like DF508.
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
H
hopesiris
Guest
I have Delta F508 on one chromosome and 5T with 12 repeats on the opposite chromosome. I have a CF diagnosis since the 5T/TG12 acts like a mild to moderate mutation when combined with a more severe mutation like DF508.
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
H
hopesiris
Guest
I have Delta F508 on one chromosome and 5T with 12 repeats on the opposite chromosome. I have a CF diagnosis since the 5T/TG12 acts like a mild to moderate mutation when combined with a more severe mutation like DF508.
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
Hope this helps. Any questions, PM me.
Bonnie
H
hopesiris
Guest
I have Delta F508 on one chromosome and 5T with 12 repeats on the opposite chromosome. I have a CF diagnosis since the 5T/TG12 acts like a mild to moderate mutation when combined with a more severe mutation like DF508.
<br />
<br />Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
<br />
<br />Hope this helps. Any questions, PM me.
<br />
<br />Bonnie
<br />
<br />Treatments usually begin right away and include airway clearance (getting the mucus out of the lungs). It's done once or twice daily for milder CFers. Everyone's treatment plan is a little different since it's based on individual needs. I think most of us end up with a vest, which mechanically vibrates the chest and really helps dislodge the sticky mucus.
<br />
<br />Hope this helps. Any questions, PM me.
<br />
<br />Bonnie