Can anyone help

M

Mommafirst

Guest
rnordlnd --

Welcome. I'm sorry to hear about your granddaughter. With the combination of F508 and W1282X, I'm pretty confident she will get a diagnosis of CF. Neither of those genes are known to be iffy. F508 is the most common gene for CF, accounting for around 60% of all CF cases. W1282X is common as well, especially in certain populations. My daughter has the W1282X. X mutations have a "stop" in the gene code that keeps the body from producing the protein necessary. I know F508 is a class 2, but don't know how to explain what that means. But overall, a combination of class 1 and 2 is associated with typical CF. Of course that doesn't really predict anything, as even siblings with the same set of genes can have completely different outcomes.

Some good news for you, though. W1282X is one of the mutations that has shown success with gene therapy and the future is hopeful that the meds that are in phase three trials right now will continue to show promise. With CF, if you can fix one of the two genes, the hope is that the result (on these meds) would be that symptoms would be equal to that of being a carrier. So keep that baby girl healthy, do find out all the preventative meds/treatment possibilities and get started with them as early as possible.
 
M

Mommafirst

Guest
rnordlnd --

Welcome. I'm sorry to hear about your granddaughter. With the combination of F508 and W1282X, I'm pretty confident she will get a diagnosis of CF. Neither of those genes are known to be iffy. F508 is the most common gene for CF, accounting for around 60% of all CF cases. W1282X is common as well, especially in certain populations. My daughter has the W1282X. X mutations have a "stop" in the gene code that keeps the body from producing the protein necessary. I know F508 is a class 2, but don't know how to explain what that means. But overall, a combination of class 1 and 2 is associated with typical CF. Of course that doesn't really predict anything, as even siblings with the same set of genes can have completely different outcomes.

Some good news for you, though. W1282X is one of the mutations that has shown success with gene therapy and the future is hopeful that the meds that are in phase three trials right now will continue to show promise. With CF, if you can fix one of the two genes, the hope is that the result (on these meds) would be that symptoms would be equal to that of being a carrier. So keep that baby girl healthy, do find out all the preventative meds/treatment possibilities and get started with them as early as possible.
 
M

Mommafirst

Guest
rnordlnd --

Welcome. I'm sorry to hear about your granddaughter. With the combination of F508 and W1282X, I'm pretty confident she will get a diagnosis of CF. Neither of those genes are known to be iffy. F508 is the most common gene for CF, accounting for around 60% of all CF cases. W1282X is common as well, especially in certain populations. My daughter has the W1282X. X mutations have a "stop" in the gene code that keeps the body from producing the protein necessary. I know F508 is a class 2, but don't know how to explain what that means. But overall, a combination of class 1 and 2 is associated with typical CF. Of course that doesn't really predict anything, as even siblings with the same set of genes can have completely different outcomes.

Some good news for you, though. W1282X is one of the mutations that has shown success with gene therapy and the future is hopeful that the meds that are in phase three trials right now will continue to show promise. With CF, if you can fix one of the two genes, the hope is that the result (on these meds) would be that symptoms would be equal to that of being a carrier. So keep that baby girl healthy, do find out all the preventative meds/treatment possibilities and get started with them as early as possible.
 
M

Mommafirst

Guest
rnordlnd --

Welcome. I'm sorry to hear about your granddaughter. With the combination of F508 and W1282X, I'm pretty confident she will get a diagnosis of CF. Neither of those genes are known to be iffy. F508 is the most common gene for CF, accounting for around 60% of all CF cases. W1282X is common as well, especially in certain populations. My daughter has the W1282X. X mutations have a "stop" in the gene code that keeps the body from producing the protein necessary. I know F508 is a class 2, but don't know how to explain what that means. But overall, a combination of class 1 and 2 is associated with typical CF. Of course that doesn't really predict anything, as even siblings with the same set of genes can have completely different outcomes.

Some good news for you, though. W1282X is one of the mutations that has shown success with gene therapy and the future is hopeful that the meds that are in phase three trials right now will continue to show promise. With CF, if you can fix one of the two genes, the hope is that the result (on these meds) would be that symptoms would be equal to that of being a carrier. So keep that baby girl healthy, do find out all the preventative meds/treatment possibilities and get started with them as early as possible.
 
M

Mommafirst

Guest
rnordlnd --

Welcome. I'm sorry to hear about your granddaughter. With the combination of F508 and W1282X, I'm pretty confident she will get a diagnosis of CF. Neither of those genes are known to be iffy. F508 is the most common gene for CF, accounting for around 60% of all CF cases. W1282X is common as well, especially in certain populations. My daughter has the W1282X. X mutations have a "stop" in the gene code that keeps the body from producing the protein necessary. I know F508 is a class 2, but don't know how to explain what that means. But overall, a combination of class 1 and 2 is associated with typical CF. Of course that doesn't really predict anything, as even siblings with the same set of genes can have completely different outcomes.

Some good news for you, though. W1282X is one of the mutations that has shown success with gene therapy and the future is hopeful that the meds that are in phase three trials right now will continue to show promise. With CF, if you can fix one of the two genes, the hope is that the result (on these meds) would be that symptoms would be equal to that of being a carrier. So keep that baby girl healthy, do find out all the preventative meds/treatment possibilities and get started with them as early as possible.
 
R

rnordlnd

New member
Mommafirst thank you for your response!
Its very helpful to hear from someone who has the same type of genes.
what types of symptoms did your child experience and at what age?


Any others with wisdom or examples/resources would be appriciated as well.
 
R

rnordlnd

New member
Mommafirst thank you for your response!
Its very helpful to hear from someone who has the same type of genes.
what types of symptoms did your child experience and at what age?


Any others with wisdom or examples/resources would be appriciated as well.
 
R

rnordlnd

New member
Mommafirst thank you for your response!
Its very helpful to hear from someone who has the same type of genes.
what types of symptoms did your child experience and at what age?


Any others with wisdom or examples/resources would be appriciated as well.
 
R

rnordlnd

New member
Mommafirst thank you for your response!
Its very helpful to hear from someone who has the same type of genes.
what types of symptoms did your child experience and at what age?


Any others with wisdom or examples/resources would be appriciated as well.
 
R

rnordlnd

New member
Mommafirst thank you for your response!
Its very helpful to hear from someone who has the same type of genes.
what types of symptoms did your child experience and at what age?


Any others with wisdom or examples/resources would be appriciated as well.
 
M

Mommafirst

Guest
Actually my daughter has w1282x and y1032c ( a very rare mutation), so I'm not sure if her experiences mean much. My daughter started off pancreatic sufficient (consistent with the y1032c), but after her first birthday shortly became pancreatic insufficient (more consistent with the w1282x). She'll be 2 in January and while she culture Staph, has no lung involvement otherwise. She is doing well, just is very petite and has trouble gaining weight. I see you've posted a new thread, that should help. You may want to try on the families board too, as it gets more traffic.
 
M

Mommafirst

Guest
Actually my daughter has w1282x and y1032c ( a very rare mutation), so I'm not sure if her experiences mean much. My daughter started off pancreatic sufficient (consistent with the y1032c), but after her first birthday shortly became pancreatic insufficient (more consistent with the w1282x). She'll be 2 in January and while she culture Staph, has no lung involvement otherwise. She is doing well, just is very petite and has trouble gaining weight. I see you've posted a new thread, that should help. You may want to try on the families board too, as it gets more traffic.
 
M

Mommafirst

Guest
Actually my daughter has w1282x and y1032c ( a very rare mutation), so I'm not sure if her experiences mean much. My daughter started off pancreatic sufficient (consistent with the y1032c), but after her first birthday shortly became pancreatic insufficient (more consistent with the w1282x). She'll be 2 in January and while she culture Staph, has no lung involvement otherwise. She is doing well, just is very petite and has trouble gaining weight. I see you've posted a new thread, that should help. You may want to try on the families board too, as it gets more traffic.
 
M

Mommafirst

Guest
Actually my daughter has w1282x and y1032c ( a very rare mutation), so I'm not sure if her experiences mean much. My daughter started off pancreatic sufficient (consistent with the y1032c), but after her first birthday shortly became pancreatic insufficient (more consistent with the w1282x). She'll be 2 in January and while she culture Staph, has no lung involvement otherwise. She is doing well, just is very petite and has trouble gaining weight. I see you've posted a new thread, that should help. You may want to try on the families board too, as it gets more traffic.
 
M

Mommafirst

Guest
Actually my daughter has w1282x and y1032c ( a very rare mutation), so I'm not sure if her experiences mean much. My daughter started off pancreatic sufficient (consistent with the y1032c), but after her first birthday shortly became pancreatic insufficient (more consistent with the w1282x). She'll be 2 in January and while she culture Staph, has no lung involvement otherwise. She is doing well, just is very petite and has trouble gaining weight. I see you've posted a new thread, that should help. You may want to try on the families board too, as it gets more traffic.
 
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