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new here, have a question...

M

makxis

New member
Hello to everyone. I am new to this whole thing. I have a question and I was wondering if anyone would be able to help me. One of my daughters has CF. She just turned 3. She is an angel. Right now she is on treatmeant for an upper respiratory infection - her second one in 2 months. She's a tough girl. Anyway. My question is about CF mutations. Has anyone heard of a mutation called M117H ? You see, she was diagnosed in May '07 and at the time her doc told us that she has the delta F508 mutation and M117H. I have researched everything I can think of and have not been able to find any info. on the M117H mutation. If anyone has this or can offer any info. about it, it would be greatly appreciated. Thank you.

Makxis
 
M

makxis

New member
Hello to everyone. I am new to this whole thing. I have a question and I was wondering if anyone would be able to help me. One of my daughters has CF. She just turned 3. She is an angel. Right now she is on treatmeant for an upper respiratory infection - her second one in 2 months. She's a tough girl. Anyway. My question is about CF mutations. Has anyone heard of a mutation called M117H ? You see, she was diagnosed in May '07 and at the time her doc told us that she has the delta F508 mutation and M117H. I have researched everything I can think of and have not been able to find any info. on the M117H mutation. If anyone has this or can offer any info. about it, it would be greatly appreciated. Thank you.

Makxis
 
M

makxis

New member
Hello to everyone. I am new to this whole thing. I have a question and I was wondering if anyone would be able to help me. One of my daughters has CF. She just turned 3. She is an angel. Right now she is on treatmeant for an upper respiratory infection - her second one in 2 months. She's a tough girl. Anyway. My question is about CF mutations. Has anyone heard of a mutation called M117H ? You see, she was diagnosed in May '07 and at the time her doc told us that she has the delta F508 mutation and M117H. I have researched everything I can think of and have not been able to find any info. on the M117H mutation. If anyone has this or can offer any info. about it, it would be greatly appreciated. Thank you.

Makxis
 
M

makxis

New member
Hello to everyone. I am new to this whole thing. I have a question and I was wondering if anyone would be able to help me. One of my daughters has CF. She just turned 3. She is an angel. Right now she is on treatmeant for an upper respiratory infection - her second one in 2 months. She's a tough girl. Anyway. My question is about CF mutations. Has anyone heard of a mutation called M117H ? You see, she was diagnosed in May '07 and at the time her doc told us that she has the delta F508 mutation and M117H. I have researched everything I can think of and have not been able to find any info. on the M117H mutation. If anyone has this or can offer any info. about it, it would be greatly appreciated. Thank you.

Makxis
 
M

makxis

New member
Hello to everyone. I am new to this whole thing. I have a question and I was wondering if anyone would be able to help me. One of my daughters has CF. She just turned 3. She is an angel. Right now she is on treatmeant for an upper respiratory infection - her second one in 2 months. She's a tough girl. Anyway. My question is about CF mutations. Has anyone heard of a mutation called M117H ? You see, she was diagnosed in May '07 and at the time her doc told us that she has the delta F508 mutation and M117H. I have researched everything I can think of and have not been able to find any info. on the M117H mutation. If anyone has this or can offer any info. about it, it would be greatly appreciated. Thank you.

Makxis
 
L

lightNlife

New member
At this point in the diagnosis, knowing the specifics of the gene mutation is the least of your concerns. Researchers are still working hard on identifying how different mutations affect people, but the bottom line is that you child has CF. Learn what you can about the medications, therapies etc and let the specific genetics fall by the wayside for now. Trust me, you'll drive yourself crazy otherwise. It might be a nonsense/missense mutation. I'll keep checking the resources I have and let you know.

In the meantime, best wishes as you learn how to care for your daughter. It's a lot to learn, that's for sure, but you'll find plenty of support and encouragement. here.
 
L

lightNlife

New member
At this point in the diagnosis, knowing the specifics of the gene mutation is the least of your concerns. Researchers are still working hard on identifying how different mutations affect people, but the bottom line is that you child has CF. Learn what you can about the medications, therapies etc and let the specific genetics fall by the wayside for now. Trust me, you'll drive yourself crazy otherwise. It might be a nonsense/missense mutation. I'll keep checking the resources I have and let you know.

In the meantime, best wishes as you learn how to care for your daughter. It's a lot to learn, that's for sure, but you'll find plenty of support and encouragement. here.
 
L

lightNlife

New member
At this point in the diagnosis, knowing the specifics of the gene mutation is the least of your concerns. Researchers are still working hard on identifying how different mutations affect people, but the bottom line is that you child has CF. Learn what you can about the medications, therapies etc and let the specific genetics fall by the wayside for now. Trust me, you'll drive yourself crazy otherwise. It might be a nonsense/missense mutation. I'll keep checking the resources I have and let you know.

In the meantime, best wishes as you learn how to care for your daughter. It's a lot to learn, that's for sure, but you'll find plenty of support and encouragement. here.
 
L

lightNlife

New member
At this point in the diagnosis, knowing the specifics of the gene mutation is the least of your concerns. Researchers are still working hard on identifying how different mutations affect people, but the bottom line is that you child has CF. Learn what you can about the medications, therapies etc and let the specific genetics fall by the wayside for now. Trust me, you'll drive yourself crazy otherwise. It might be a nonsense/missense mutation. I'll keep checking the resources I have and let you know.

In the meantime, best wishes as you learn how to care for your daughter. It's a lot to learn, that's for sure, but you'll find plenty of support and encouragement. here.
 
L

lightNlife

New member
At this point in the diagnosis, knowing the specifics of the gene mutation is the least of your concerns. Researchers are still working hard on identifying how different mutations affect people, but the bottom line is that you child has CF. Learn what you can about the medications, therapies etc and let the specific genetics fall by the wayside for now. Trust me, you'll drive yourself crazy otherwise. It might be a nonsense/missense mutation. I'll keep checking the resources I have and let you know.

In the meantime, best wishes as you learn how to care for your daughter. It's a lot to learn, that's for sure, but you'll find plenty of support and encouragement. here.
 
N

NoExcuses

New member
Ya many people come to this site looking for a way to predict clinical outcome with genes.

So much more affects how CF turns out in addition to genes (many people who the same two CF genes have very different CF clinical outcomes).... compliance, quality of CF care, modifier genes, etc.
 
N

NoExcuses

New member
Ya many people come to this site looking for a way to predict clinical outcome with genes.

So much more affects how CF turns out in addition to genes (many people who the same two CF genes have very different CF clinical outcomes).... compliance, quality of CF care, modifier genes, etc.
 
N

NoExcuses

New member
Ya many people come to this site looking for a way to predict clinical outcome with genes.

So much more affects how CF turns out in addition to genes (many people who the same two CF genes have very different CF clinical outcomes).... compliance, quality of CF care, modifier genes, etc.
 
N

NoExcuses

New member
Ya many people come to this site looking for a way to predict clinical outcome with genes.

So much more affects how CF turns out in addition to genes (many people who the same two CF genes have very different CF clinical outcomes).... compliance, quality of CF care, modifier genes, etc.
 
N

NoExcuses

New member
Ya many people come to this site looking for a way to predict clinical outcome with genes.

So much more affects how CF turns out in addition to genes (many people who the same two CF genes have very different CF clinical outcomes).... compliance, quality of CF care, modifier genes, etc.
 
M

Mommafirst

Guest
Hi Makxis,

I can't find the mutation m117h on the sick kids, cf mutation search. Are you sure that is the name of it?

I am also a parent of a young CFer and I understand the need to have as much information as you can. I also understand where the pps are coming from -- as it can be very upsetting to put stock into an anticipated outcome based on mutation. We did this initially, and now our docs are saying that my daughter doesn't follow the rule books. UGH.

Anyway, information is still always good. If you have the mutation misspelled, I'll try and look up the real name. If the above is correct, I'm not sure how I can help.
 
M

Mommafirst

Guest
Hi Makxis,

I can't find the mutation m117h on the sick kids, cf mutation search. Are you sure that is the name of it?

I am also a parent of a young CFer and I understand the need to have as much information as you can. I also understand where the pps are coming from -- as it can be very upsetting to put stock into an anticipated outcome based on mutation. We did this initially, and now our docs are saying that my daughter doesn't follow the rule books. UGH.

Anyway, information is still always good. If you have the mutation misspelled, I'll try and look up the real name. If the above is correct, I'm not sure how I can help.
 
M

Mommafirst

Guest
Hi Makxis,

I can't find the mutation m117h on the sick kids, cf mutation search. Are you sure that is the name of it?

I am also a parent of a young CFer and I understand the need to have as much information as you can. I also understand where the pps are coming from -- as it can be very upsetting to put stock into an anticipated outcome based on mutation. We did this initially, and now our docs are saying that my daughter doesn't follow the rule books. UGH.

Anyway, information is still always good. If you have the mutation misspelled, I'll try and look up the real name. If the above is correct, I'm not sure how I can help.
 
M

Mommafirst

Guest
Hi Makxis,

I can't find the mutation m117h on the sick kids, cf mutation search. Are you sure that is the name of it?

I am also a parent of a young CFer and I understand the need to have as much information as you can. I also understand where the pps are coming from -- as it can be very upsetting to put stock into an anticipated outcome based on mutation. We did this initially, and now our docs are saying that my daughter doesn't follow the rule books. UGH.

Anyway, information is still always good. If you have the mutation misspelled, I'll try and look up the real name. If the above is correct, I'm not sure how I can help.
 
M

Mommafirst

Guest
Hi Makxis,

I can't find the mutation m117h on the sick kids, cf mutation search. Are you sure that is the name of it?

I am also a parent of a young CFer and I understand the need to have as much information as you can. I also understand where the pps are coming from -- as it can be very upsetting to put stock into an anticipated outcome based on mutation. We did this initially, and now our docs are saying that my daughter doesn't follow the rule books. UGH.

Anyway, information is still always good. If you have the mutation misspelled, I'll try and look up the real name. If the above is correct, I'm not sure how I can help.
 
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