Where do I go to research mutations???

M

Morgan0706

New member
Hello everyone. First of all, thank you for the help with cpt. I have a question. Is there a web site I can go on to research data on my son's mutations? He has delta f508 (1 mutation) and 1717-1G>A (1 MUTATION). Do you do this or am I setting myself up to be sad? I am just trying to learn all I can about CF and how it is going to effect our son, Grayson. Please help!!!! It is overwelming.....Thanks in advance.
Michelle ~ mother of Grayson w/cf, Morgan and Madison (no cf, not a carrier)
 
M

Morgan0706

New member
Hello everyone. First of all, thank you for the help with cpt. I have a question. Is there a web site I can go on to research data on my son's mutations? He has delta f508 (1 mutation) and 1717-1G>A (1 MUTATION). Do you do this or am I setting myself up to be sad? I am just trying to learn all I can about CF and how it is going to effect our son, Grayson. Please help!!!! It is overwelming.....Thanks in advance.
Michelle ~ mother of Grayson w/cf, Morgan and Madison (no cf, not a carrier)
 
M

Morgan0706

New member
Hello everyone. First of all, thank you for the help with cpt. I have a question. Is there a web site I can go on to research data on my son's mutations? He has delta f508 (1 mutation) and 1717-1G>A (1 MUTATION). Do you do this or am I setting myself up to be sad? I am just trying to learn all I can about CF and how it is going to effect our son, Grayson. Please help!!!! It is overwelming.....Thanks in advance.
Michelle ~ mother of Grayson w/cf, Morgan and Madison (no cf, not a carrier)
 
M

Morgan0706

New member
Hello everyone. First of all, thank you for the help with cpt. I have a question. Is there a web site I can go on to research data on my son's mutations? He has delta f508 (1 mutation) and 1717-1G>A (1 MUTATION). Do you do this or am I setting myself up to be sad? I am just trying to learn all I can about CF and how it is going to effect our son, Grayson. Please help!!!! It is overwelming.....Thanks in advance.
Michelle ~ mother of Grayson w/cf, Morgan and Madison (no cf, not a carrier)
 
M

Morgan0706

New member
Hello everyone. First of all, thank you for the help with cpt. I have a question. Is there a web site I can go on to research data on my son's mutations? He has delta f508 (1 mutation) and 1717-1G>A (1 MUTATION). Do you do this or am I setting myself up to be sad? I am just trying to learn all I can about CF and how it is going to effect our son, Grayson. Please help!!!! It is overwelming.....Thanks in advance.
Michelle ~ mother of Grayson w/cf, Morgan and Madison (no cf, not a carrier)
 
A

AbbysMama

New member
Michelle,

There is nothing more empowering and proactive than educating yourself on your son's mutations. In many cases you may have to do single "Google" searches for each mutation. You can learn a great deal if you do independent searches for the mutations on this site as well. There is a spot to search down on the left-hand side. You can do an advanced search over the entire forum. You will be able to find out who has your son's mutations and gauge his prognosis.

I must add a caveat here. It is important to know that every CF presentation of symptoms is different. There are cases of twins with the exact same CF gene combinations and they present symptoms differently. Use the knowledge that you gain as a guide to help figure out what you need to do for him and preventative care. You may be a little sad, depending on what you find, but then again, for me knowing what we might expect was a great coping mechanism for me. It enabled me to put my finger on what we might be expecting AND gave me a sense of control.

I applaude you for making the first step in learning about the mutations your son has. I believe that you will find that when you get the information you seek, it will help you wrap your head around things. I'm sorry I'm not much help with URLs to research, but starting here might be the best option. Other sites get very technical. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Emily
 
A

AbbysMama

New member
Michelle,

There is nothing more empowering and proactive than educating yourself on your son's mutations. In many cases you may have to do single "Google" searches for each mutation. You can learn a great deal if you do independent searches for the mutations on this site as well. There is a spot to search down on the left-hand side. You can do an advanced search over the entire forum. You will be able to find out who has your son's mutations and gauge his prognosis.

I must add a caveat here. It is important to know that every CF presentation of symptoms is different. There are cases of twins with the exact same CF gene combinations and they present symptoms differently. Use the knowledge that you gain as a guide to help figure out what you need to do for him and preventative care. You may be a little sad, depending on what you find, but then again, for me knowing what we might expect was a great coping mechanism for me. It enabled me to put my finger on what we might be expecting AND gave me a sense of control.

I applaude you for making the first step in learning about the mutations your son has. I believe that you will find that when you get the information you seek, it will help you wrap your head around things. I'm sorry I'm not much help with URLs to research, but starting here might be the best option. Other sites get very technical. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Emily
 
A

AbbysMama

New member
Michelle,

There is nothing more empowering and proactive than educating yourself on your son's mutations. In many cases you may have to do single "Google" searches for each mutation. You can learn a great deal if you do independent searches for the mutations on this site as well. There is a spot to search down on the left-hand side. You can do an advanced search over the entire forum. You will be able to find out who has your son's mutations and gauge his prognosis.

I must add a caveat here. It is important to know that every CF presentation of symptoms is different. There are cases of twins with the exact same CF gene combinations and they present symptoms differently. Use the knowledge that you gain as a guide to help figure out what you need to do for him and preventative care. You may be a little sad, depending on what you find, but then again, for me knowing what we might expect was a great coping mechanism for me. It enabled me to put my finger on what we might be expecting AND gave me a sense of control.

I applaude you for making the first step in learning about the mutations your son has. I believe that you will find that when you get the information you seek, it will help you wrap your head around things. I'm sorry I'm not much help with URLs to research, but starting here might be the best option. Other sites get very technical. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Emily
 
A

AbbysMama

New member
Michelle,

There is nothing more empowering and proactive than educating yourself on your son's mutations. In many cases you may have to do single "Google" searches for each mutation. You can learn a great deal if you do independent searches for the mutations on this site as well. There is a spot to search down on the left-hand side. You can do an advanced search over the entire forum. You will be able to find out who has your son's mutations and gauge his prognosis.

I must add a caveat here. It is important to know that every CF presentation of symptoms is different. There are cases of twins with the exact same CF gene combinations and they present symptoms differently. Use the knowledge that you gain as a guide to help figure out what you need to do for him and preventative care. You may be a little sad, depending on what you find, but then again, for me knowing what we might expect was a great coping mechanism for me. It enabled me to put my finger on what we might be expecting AND gave me a sense of control.

I applaude you for making the first step in learning about the mutations your son has. I believe that you will find that when you get the information you seek, it will help you wrap your head around things. I'm sorry I'm not much help with URLs to research, but starting here might be the best option. Other sites get very technical. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Emily
 
A

AbbysMama

New member
Michelle,

There is nothing more empowering and proactive than educating yourself on your son's mutations. In many cases you may have to do single "Google" searches for each mutation. You can learn a great deal if you do independent searches for the mutations on this site as well. There is a spot to search down on the left-hand side. You can do an advanced search over the entire forum. You will be able to find out who has your son's mutations and gauge his prognosis.

I must add a caveat here. It is important to know that every CF presentation of symptoms is different. There are cases of twins with the exact same CF gene combinations and they present symptoms differently. Use the knowledge that you gain as a guide to help figure out what you need to do for him and preventative care. You may be a little sad, depending on what you find, but then again, for me knowing what we might expect was a great coping mechanism for me. It enabled me to put my finger on what we might be expecting AND gave me a sense of control.

I applaude you for making the first step in learning about the mutations your son has. I believe that you will find that when you get the information you seek, it will help you wrap your head around things. I'm sorry I'm not much help with URLs to research, but starting here might be the best option. Other sites get very technical. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Emily
 
A

Alyssa

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>

This is the only data base of genes I've ever seen, but when I put in my kids two genes, it doesn't really tell me anything I can understand.

Here is what it says about your son's mutations:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=255
">http://www.genet.sickkids.on.c...lPage.external?sp=255
</a><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
I have learned more on other websites like Emily mentioned, just in bits and pieces.

Most everyone will caution you about putting too much stock in what you read as being a crystal ball for the future. CF can be so different for people - even when they have the same genes that nobody can say for sure and there are just so many variables. But yes, there are things you can learn about the genes that should give you valuable information about how the gene functions (or doesn't function) for a better understanding of what can be done to try and "correct" it. There are some things coming down the pipeline for treatment that only help a certain class of gene because of how the treatment works, so yes, it is valuable information to learn about. I think the gene class (1-5) is probably the most important information to learn.
 
A

Alyssa

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>

This is the only data base of genes I've ever seen, but when I put in my kids two genes, it doesn't really tell me anything I can understand.

Here is what it says about your son's mutations:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=255
">http://www.genet.sickkids.on.c...lPage.external?sp=255
</a><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
I have learned more on other websites like Emily mentioned, just in bits and pieces.

Most everyone will caution you about putting too much stock in what you read as being a crystal ball for the future. CF can be so different for people - even when they have the same genes that nobody can say for sure and there are just so many variables. But yes, there are things you can learn about the genes that should give you valuable information about how the gene functions (or doesn't function) for a better understanding of what can be done to try and "correct" it. There are some things coming down the pipeline for treatment that only help a certain class of gene because of how the treatment works, so yes, it is valuable information to learn about. I think the gene class (1-5) is probably the most important information to learn.
 
A

Alyssa

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>

This is the only data base of genes I've ever seen, but when I put in my kids two genes, it doesn't really tell me anything I can understand.

Here is what it says about your son's mutations:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=255
">http://www.genet.sickkids.on.c...lPage.external?sp=255
</a><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
I have learned more on other websites like Emily mentioned, just in bits and pieces.

Most everyone will caution you about putting too much stock in what you read as being a crystal ball for the future. CF can be so different for people - even when they have the same genes that nobody can say for sure and there are just so many variables. But yes, there are things you can learn about the genes that should give you valuable information about how the gene functions (or doesn't function) for a better understanding of what can be done to try and "correct" it. There are some things coming down the pipeline for treatment that only help a certain class of gene because of how the treatment works, so yes, it is valuable information to learn about. I think the gene class (1-5) is probably the most important information to learn.
 
A

Alyssa

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>

This is the only data base of genes I've ever seen, but when I put in my kids two genes, it doesn't really tell me anything I can understand.

Here is what it says about your son's mutations:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=255
">http://www.genet.sickkids.on.c...lPage.external?sp=255
</a><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
I have learned more on other websites like Emily mentioned, just in bits and pieces.

Most everyone will caution you about putting too much stock in what you read as being a crystal ball for the future. CF can be so different for people - even when they have the same genes that nobody can say for sure and there are just so many variables. But yes, there are things you can learn about the genes that should give you valuable information about how the gene functions (or doesn't function) for a better understanding of what can be done to try and "correct" it. There are some things coming down the pipeline for treatment that only help a certain class of gene because of how the treatment works, so yes, it is valuable information to learn about. I think the gene class (1-5) is probably the most important information to learn.
 
A

Alyssa

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>

This is the only data base of genes I've ever seen, but when I put in my kids two genes, it doesn't really tell me anything I can understand.

Here is what it says about your son's mutations:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=255
">http://www.genet.sickkids.on.c...lPage.external?sp=255
</a><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
I have learned more on other websites like Emily mentioned, just in bits and pieces.

Most everyone will caution you about putting too much stock in what you read as being a crystal ball for the future. CF can be so different for people - even when they have the same genes that nobody can say for sure and there are just so many variables. But yes, there are things you can learn about the genes that should give you valuable information about how the gene functions (or doesn't function) for a better understanding of what can be done to try and "correct" it. There are some things coming down the pipeline for treatment that only help a certain class of gene because of how the treatment works, so yes, it is valuable information to learn about. I think the gene class (1-5) is probably the most important information to learn.
 
N

NoExcuses

New member
just to reinforce what emily has said -


don't let anyone tell you that CF mutations correlate to clinical outcomes.

so much influences clinical outcomes.... modifier genes (you can google that), compliance with medications, environment, etc.

but as emily said, it's great that you're checking things out <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
just to reinforce what emily has said -


don't let anyone tell you that CF mutations correlate to clinical outcomes.

so much influences clinical outcomes.... modifier genes (you can google that), compliance with medications, environment, etc.

but as emily said, it's great that you're checking things out <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
just to reinforce what emily has said -


don't let anyone tell you that CF mutations correlate to clinical outcomes.

so much influences clinical outcomes.... modifier genes (you can google that), compliance with medications, environment, etc.

but as emily said, it's great that you're checking things out <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
just to reinforce what emily has said -


don't let anyone tell you that CF mutations correlate to clinical outcomes.

so much influences clinical outcomes.... modifier genes (you can google that), compliance with medications, environment, etc.

but as emily said, it's great that you're checking things out <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
just to reinforce what emily has said -


don't let anyone tell you that CF mutations correlate to clinical outcomes.

so much influences clinical outcomes.... modifier genes (you can google that), compliance with medications, environment, etc.

but as emily said, it's great that you're checking things out <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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