Can anyone help

M

meeshyo

New member
My 2 1/2 year old has battled respiratory issues since birth. After a neg. sweat test and a negative small panel Genzyme test, we were considered negative. She has been diagnosed asthma for over 2 years with no improvement. After an 8 day hospital stay and NUMEROUS tests run, I was just told that her full panel DNA test done a few weeks ago came back indicating two copies of 1540 A > G , which I was told are two genes associated with CF. It is still non-conclusive, but my daughter's treatment plan just took a 180. They are treating her as though she has CF and we are continuing testing. I am to have her blood drawn for deletion/duplication??? she will be having a nasal potential test and a CT of her sinuses. We are starting Pulmozyne and the vest. Does anyone have any info about these genes???

Thanks!

~M
 
M

meeshyo

New member
My 2 1/2 year old has battled respiratory issues since birth. After a neg. sweat test and a negative small panel Genzyme test, we were considered negative. She has been diagnosed asthma for over 2 years with no improvement. After an 8 day hospital stay and NUMEROUS tests run, I was just told that her full panel DNA test done a few weeks ago came back indicating two copies of 1540 A > G , which I was told are two genes associated with CF. It is still non-conclusive, but my daughter's treatment plan just took a 180. They are treating her as though she has CF and we are continuing testing. I am to have her blood drawn for deletion/duplication??? she will be having a nasal potential test and a CT of her sinuses. We are starting Pulmozyne and the vest. Does anyone have any info about these genes???

Thanks!

~M
 
M

meeshyo

New member
My 2 1/2 year old has battled respiratory issues since birth. After a neg. sweat test and a negative small panel Genzyme test, we were considered negative. She has been diagnosed asthma for over 2 years with no improvement. After an 8 day hospital stay and NUMEROUS tests run, I was just told that her full panel DNA test done a few weeks ago came back indicating two copies of 1540 A > G , which I was told are two genes associated with CF. It is still non-conclusive, but my daughter's treatment plan just took a 180. They are treating her as though she has CF and we are continuing testing. I am to have her blood drawn for deletion/duplication??? she will be having a nasal potential test and a CT of her sinuses. We are starting Pulmozyne and the vest. Does anyone have any info about these genes???

Thanks!

~M
 
M

meeshyo

New member
My 2 1/2 year old has battled respiratory issues since birth. After a neg. sweat test and a negative small panel Genzyme test, we were considered negative. She has been diagnosed asthma for over 2 years with no improvement. After an 8 day hospital stay and NUMEROUS tests run, I was just told that her full panel DNA test done a few weeks ago came back indicating two copies of 1540 A > G , which I was told are two genes associated with CF. It is still non-conclusive, but my daughter's treatment plan just took a 180. They are treating her as though she has CF and we are continuing testing. I am to have her blood drawn for deletion/duplication??? she will be having a nasal potential test and a CT of her sinuses. We are starting Pulmozyne and the vest. Does anyone have any info about these genes???

Thanks!

~M
 
M

meeshyo

New member
My 2 1/2 year old has battled respiratory issues since birth. After a neg. sweat test and a negative small panel Genzyme test, we were considered negative. She has been diagnosed asthma for over 2 years with no improvement. After an 8 day hospital stay and NUMEROUS tests run, I was just told that her full panel DNA test done a few weeks ago came back indicating two copies of 1540 A > G , which I was told are two genes associated with CF. It is still non-conclusive, but my daughter's treatment plan just took a 180. They are treating her as though she has CF and we are continuing testing. I am to have her blood drawn for deletion/duplication??? she will be having a nasal potential test and a CT of her sinuses. We are starting Pulmozyne and the vest. Does anyone have any info about these genes???

Thanks!

~M
 
A

Alyssa

New member
I don't know much about those genes - but if I remember correctly I have seen it listed quite a bit when people state their genes. Hopefully someone will answer you more about that specific gene. If not do an advanced search on this site and see what shows up.

I just wanted to let you know that it sounds like you have an excellent team of doctors directing care now. I'm sure you are feeling overwhelmed at the moment, but despite the discovery it really is very good that they are now treating her as if she has CF -- starting pulmozyme and the vest is a very valuable treatment plan! Her health should improve after starting these things, not to mention being monitored and treated correctly.
 
A

Alyssa

New member
I don't know much about those genes - but if I remember correctly I have seen it listed quite a bit when people state their genes. Hopefully someone will answer you more about that specific gene. If not do an advanced search on this site and see what shows up.

I just wanted to let you know that it sounds like you have an excellent team of doctors directing care now. I'm sure you are feeling overwhelmed at the moment, but despite the discovery it really is very good that they are now treating her as if she has CF -- starting pulmozyme and the vest is a very valuable treatment plan! Her health should improve after starting these things, not to mention being monitored and treated correctly.
 
A

Alyssa

New member
I don't know much about those genes - but if I remember correctly I have seen it listed quite a bit when people state their genes. Hopefully someone will answer you more about that specific gene. If not do an advanced search on this site and see what shows up.

I just wanted to let you know that it sounds like you have an excellent team of doctors directing care now. I'm sure you are feeling overwhelmed at the moment, but despite the discovery it really is very good that they are now treating her as if she has CF -- starting pulmozyme and the vest is a very valuable treatment plan! Her health should improve after starting these things, not to mention being monitored and treated correctly.
 
A

Alyssa

New member
I don't know much about those genes - but if I remember correctly I have seen it listed quite a bit when people state their genes. Hopefully someone will answer you more about that specific gene. If not do an advanced search on this site and see what shows up.

I just wanted to let you know that it sounds like you have an excellent team of doctors directing care now. I'm sure you are feeling overwhelmed at the moment, but despite the discovery it really is very good that they are now treating her as if she has CF -- starting pulmozyme and the vest is a very valuable treatment plan! Her health should improve after starting these things, not to mention being monitored and treated correctly.
 
A

Alyssa

New member
I don't know much about those genes - but if I remember correctly I have seen it listed quite a bit when people state their genes. Hopefully someone will answer you more about that specific gene. If not do an advanced search on this site and see what shows up.

I just wanted to let you know that it sounds like you have an excellent team of doctors directing care now. I'm sure you are feeling overwhelmed at the moment, but despite the discovery it really is very good that they are now treating her as if she has CF -- starting pulmozyme and the vest is a very valuable treatment plan! Her health should improve after starting these things, not to mention being monitored and treated correctly.
 
V

valigirl21

Guest
I wish I could help you as far as the mutations, but I can offer sympathy and support as I am ina similar predicament, only my son is already eight. We're still waiting from the full panel results to come back from ambry. If you need questions answered or moral support you definitely came to the right place. This site is great! Good luck and, as everyone in the CF community is, ya'll are in our prayers.
 
V

valigirl21

Guest
I wish I could help you as far as the mutations, but I can offer sympathy and support as I am ina similar predicament, only my son is already eight. We're still waiting from the full panel results to come back from ambry. If you need questions answered or moral support you definitely came to the right place. This site is great! Good luck and, as everyone in the CF community is, ya'll are in our prayers.
 
V

valigirl21

Guest
I wish I could help you as far as the mutations, but I can offer sympathy and support as I am ina similar predicament, only my son is already eight. We're still waiting from the full panel results to come back from ambry. If you need questions answered or moral support you definitely came to the right place. This site is great! Good luck and, as everyone in the CF community is, ya'll are in our prayers.
 
V

valigirl21

Guest
I wish I could help you as far as the mutations, but I can offer sympathy and support as I am ina similar predicament, only my son is already eight. We're still waiting from the full panel results to come back from ambry. If you need questions answered or moral support you definitely came to the right place. This site is great! Good luck and, as everyone in the CF community is, ya'll are in our prayers.
 
V

valigirl21

Guest
I wish I could help you as far as the mutations, but I can offer sympathy and support as I am ina similar predicament, only my son is already eight. We're still waiting from the full panel results to come back from ambry. If you need questions answered or moral support you definitely came to the right place. This site is great! Good luck and, as everyone in the CF community is, ya'll are in our prayers.
 
R

rnordlnd

New member
I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
R

rnordlnd

New member
I'd like some information on these two genes: F508 and W1282x.
My 2 week old granddaughter just recieved her lab results back from her newborn screening. It stated there was a high likelyhood that she has cystic fibrosis. With these 2 genes is it still possible that she doesn't? She also recieved her first sweat test a couple of days ago and we are awaiting the results.

She is a breastfed baby and we are noticing that she seems to be uncomfortable when she's about to have a BM. However they seem normal for a breastfed baby.

Any words of wisdom would be apprecitated. Also if someone could comment on what they know about the symptoms etc. associated with these to genes would be wonderful.

I'm so happy to have found this website!
 
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