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Does anyone have F508 and W1282x?

M

MargaritaChic

New member
These are the mutation my daughter has. I know that everyone is different and that 2 people with the same mutations will not have the same disease.

With all that being said... I am still curious if there are any adults on here that have the same mutations. If yes, how are you doing?
 
M

MargaritaChic

New member
These are the mutation my daughter has. I know that everyone is different and that 2 people with the same mutations will not have the same disease.

With all that being said... I am still curious if there are any adults on here that have the same mutations. If yes, how are you doing?
 
M

MargaritaChic

New member
These are the mutation my daughter has. I know that everyone is different and that 2 people with the same mutations will not have the same disease.

With all that being said... I am still curious if there are any adults on here that have the same mutations. If yes, how are you doing?
 
M

MargaritaChic

New member
These are the mutation my daughter has. I know that everyone is different and that 2 people with the same mutations will not have the same disease.

With all that being said... I am still curious if there are any adults on here that have the same mutations. If yes, how are you doing?
 
M

MargaritaChic

New member
These are the mutation my daughter has. I know that everyone is different and that 2 people with the same mutations will not have the same disease.

With all that being said... I am still curious if there are any adults on here that have the same mutations. If yes, how are you doing?
 
M

moxie1

Guest
I don't have that mutation, but I did want to ask if you have heard of the drug PTC124?

If what I have learned here is true, then the W1282x is a nonsense mutation and the drug they are doing studies on (PTC124) seems like it is going to correct those mutations.

I believe, in essence, if it works that your child would be like a carrier.

There's alot of people more knowledgeable then me about this, so maybe one of them will chime in.
 
M

moxie1

Guest
I don't have that mutation, but I did want to ask if you have heard of the drug PTC124?

If what I have learned here is true, then the W1282x is a nonsense mutation and the drug they are doing studies on (PTC124) seems like it is going to correct those mutations.

I believe, in essence, if it works that your child would be like a carrier.

There's alot of people more knowledgeable then me about this, so maybe one of them will chime in.
 
M

moxie1

Guest
I don't have that mutation, but I did want to ask if you have heard of the drug PTC124?

If what I have learned here is true, then the W1282x is a nonsense mutation and the drug they are doing studies on (PTC124) seems like it is going to correct those mutations.

I believe, in essence, if it works that your child would be like a carrier.

There's alot of people more knowledgeable then me about this, so maybe one of them will chime in.
 
M

moxie1

Guest
I don't have that mutation, but I did want to ask if you have heard of the drug PTC124?

If what I have learned here is true, then the W1282x is a nonsense mutation and the drug they are doing studies on (PTC124) seems like it is going to correct those mutations.

I believe, in essence, if it works that your child would be like a carrier.

There's alot of people more knowledgeable then me about this, so maybe one of them will chime in.
 
M

moxie1

Guest
I don't have that mutation, but I did want to ask if you have heard of the drug PTC124?

If what I have learned here is true, then the W1282x is a nonsense mutation and the drug they are doing studies on (PTC124) seems like it is going to correct those mutations.

I believe, in essence, if it works that your child would be like a carrier.

There's alot of people more knowledgeable then me about this, so maybe one of them will chime in.
 
M

MargaritaChic

New member
Thank for your response, Moxie. You are correct about PTC124. I have been reading alot about it. We have discussed it with our Genetics person at the U of M Clinic and she thinks it is very promising.

I hope it is the 'answer' for my little girl. :)
 
M

MargaritaChic

New member
Thank for your response, Moxie. You are correct about PTC124. I have been reading alot about it. We have discussed it with our Genetics person at the U of M Clinic and she thinks it is very promising.

I hope it is the 'answer' for my little girl. :)
 
M

MargaritaChic

New member
Thank for your response, Moxie. You are correct about PTC124. I have been reading alot about it. We have discussed it with our Genetics person at the U of M Clinic and she thinks it is very promising.

I hope it is the 'answer' for my little girl. :)
 
M

MargaritaChic

New member
Thank for your response, Moxie. You are correct about PTC124. I have been reading alot about it. We have discussed it with our Genetics person at the U of M Clinic and she thinks it is very promising.

I hope it is the 'answer' for my little girl. :)
 
M

MargaritaChic

New member
Thank for your response, Moxie. You are correct about PTC124. I have been reading alot about it. We have discussed it with our Genetics person at the U of M Clinic and she thinks it is very promising.

I hope it is the 'answer' for my little girl. :)
 
E

Emily65Roses

New member
There used to be a woman here who was married to a man with those exact mutations. She's not here anymore. I don't have the mutations myself.

He did very well until he got cepacia. He got cepacia at about 29, and died 2 years later. Bam, just like that. But if he hadn't gotten the cepacia, I believe he'd still be doing well.
 
E

Emily65Roses

New member
There used to be a woman here who was married to a man with those exact mutations. She's not here anymore. I don't have the mutations myself.

He did very well until he got cepacia. He got cepacia at about 29, and died 2 years later. Bam, just like that. But if he hadn't gotten the cepacia, I believe he'd still be doing well.
 
E

Emily65Roses

New member
There used to be a woman here who was married to a man with those exact mutations. She's not here anymore. I don't have the mutations myself.

He did very well until he got cepacia. He got cepacia at about 29, and died 2 years later. Bam, just like that. But if he hadn't gotten the cepacia, I believe he'd still be doing well.
 
E

Emily65Roses

New member
There used to be a woman here who was married to a man with those exact mutations. She's not here anymore. I don't have the mutations myself.

He did very well until he got cepacia. He got cepacia at about 29, and died 2 years later. Bam, just like that. But if he hadn't gotten the cepacia, I believe he'd still be doing well.
 
E

Emily65Roses

New member
There used to be a woman here who was married to a man with those exact mutations. She's not here anymore. I don't have the mutations myself.

He did very well until he got cepacia. He got cepacia at about 29, and died 2 years later. Bam, just like that. But if he hadn't gotten the cepacia, I believe he'd still be doing well.
 
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