PTC124

D

Dreamer

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>henryb</b></i>

Hi there,

I am a father of two daughters with CF (18 and 21 yo).

We live in Austria, Europe.

My daughters' mutations are DF508 + R1162X (a stop or nonsense mutation).

I am closely watching the PTC124 study as well!

Is there anyone out there with the same nonsense mutation?

Thanks and best to you,

Henry</end quote></div>



Hey Henry! I have the same mutations as your daughters. I will be 21 at the end of April. I sent you a private message!
 
D

Dreamer

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>henryb</b></i>

Hi there,

I am a father of two daughters with CF (18 and 21 yo).

We live in Austria, Europe.

My daughters' mutations are DF508 + R1162X (a stop or nonsense mutation).

I am closely watching the PTC124 study as well!

Is there anyone out there with the same nonsense mutation?

Thanks and best to you,

Henry</end quote></div>



Hey Henry! I have the same mutations as your daughters. I will be 21 at the end of April. I sent you a private message!
 
R

rarab43

Guest
Christian - when Will was on the last study the medicine was a powder that he mixed with water. It was a short period that he took the med and it was mainly to determine dosage and safety. Read my previous post to see what the dr said about his nasal pd and what it showed. The only side effects we saw were his throat burning for a few seconds after taking the med and also when he urinated the first time each morning it burned.
 
R

rarab43

Guest
Christian - when Will was on the last study the medicine was a powder that he mixed with water. It was a short period that he took the med and it was mainly to determine dosage and safety. Read my previous post to see what the dr said about his nasal pd and what it showed. The only side effects we saw were his throat burning for a few seconds after taking the med and also when he urinated the first time each morning it burned.
 
R

rarab43

Guest
Christian - when Will was on the last study the medicine was a powder that he mixed with water. It was a short period that he took the med and it was mainly to determine dosage and safety. Read my previous post to see what the dr said about his nasal pd and what it showed. The only side effects we saw were his throat burning for a few seconds after taking the med and also when he urinated the first time each morning it burned.
 
R

rarab43

Guest
Dear Hopeful- Maci is a cutie. Will is 21 and was 20 when he was in the study. I will keep in touch. Hopefully we will know more soon about the next phase- after the meeting. Susan
 
R

rarab43

Guest
Dear Hopeful- Maci is a cutie. Will is 21 and was 20 when he was in the study. I will keep in touch. Hopefully we will know more soon about the next phase- after the meeting. Susan
 
R

rarab43

Guest
Dear Hopeful- Maci is a cutie. Will is 21 and was 20 when he was in the study. I will keep in touch. Hopefully we will know more soon about the next phase- after the meeting. Susan
 
C

Childressj

New member
Hey there
Birmingham people.....I actually work for UAB in Huntsville, AL and there is a CF clinic for Childrens hosptial in Huntsville with Dr. Mahesh-Trevor (my 13 yr. old) has not been diagnosed with CF and maybe he won't be. SO far he has the F508 gene and they are doing the deletion detection testing and I should get the results next week. I am real glad to know that you guys really like the UAB staff in Birmingham and that they listen to you. Here in Huntsville, I am not tooooo sure yet...JC
 
C

Childressj

New member
Hey there
Birmingham people.....I actually work for UAB in Huntsville, AL and there is a CF clinic for Childrens hosptial in Huntsville with Dr. Mahesh-Trevor (my 13 yr. old) has not been diagnosed with CF and maybe he won't be. SO far he has the F508 gene and they are doing the deletion detection testing and I should get the results next week. I am real glad to know that you guys really like the UAB staff in Birmingham and that they listen to you. Here in Huntsville, I am not tooooo sure yet...JC
 
C

Childressj

New member
Hey there
Birmingham people.....I actually work for UAB in Huntsville, AL and there is a CF clinic for Childrens hosptial in Huntsville with Dr. Mahesh-Trevor (my 13 yr. old) has not been diagnosed with CF and maybe he won't be. SO far he has the F508 gene and they are doing the deletion detection testing and I should get the results next week. I am real glad to know that you guys really like the UAB staff in Birmingham and that they listen to you. Here in Huntsville, I am not tooooo sure yet...JC
 
Z

zoeg

New member
Thanks for all the information everyone! I guess I'm not the only one who is eagering awaiting this drug. My daughter is only 17 months, so a lot of this is new to me, but if I understand everything correctly, is this med. kind of like a cure? I mean, I know she will have to continue to take it for it to work, but doesn't it sound like it will correct the nonsense gene? Again, I could be wrong in that I don't understand all this stuff too well. It sure is exciting though!

Zoe Mom to Kate wCF
 
Z

zoeg

New member
Thanks for all the information everyone! I guess I'm not the only one who is eagering awaiting this drug. My daughter is only 17 months, so a lot of this is new to me, but if I understand everything correctly, is this med. kind of like a cure? I mean, I know she will have to continue to take it for it to work, but doesn't it sound like it will correct the nonsense gene? Again, I could be wrong in that I don't understand all this stuff too well. It sure is exciting though!

Zoe Mom to Kate wCF
 
Z

zoeg

New member
Thanks for all the information everyone! I guess I'm not the only one who is eagering awaiting this drug. My daughter is only 17 months, so a lot of this is new to me, but if I understand everything correctly, is this med. kind of like a cure? I mean, I know she will have to continue to take it for it to work, but doesn't it sound like it will correct the nonsense gene? Again, I could be wrong in that I don't understand all this stuff too well. It sure is exciting though!

Zoe Mom to Kate wCF
 
A

AnD

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Childressj</b></i>

Hey there

Birmingham people.....I actually work for UAB in Huntsville, AL and there is a CF clinic for Childrens hosptial in Huntsville with Dr. Mahesh-Trevor (my 13 yr. old) has not been diagnosed with CF and maybe he won't be. SO far he has the F508 gene and they are doing the deletion detection testing and I should get the results next week. I am real glad to know that you guys really like the UAB staff in Birmingham and that they listen to you. Here in Huntsville, I am not tooooo sure yet...JC</end quote></div>

I hope you get good results soon <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
 
A

AnD

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Childressj</b></i>

Hey there

Birmingham people.....I actually work for UAB in Huntsville, AL and there is a CF clinic for Childrens hosptial in Huntsville with Dr. Mahesh-Trevor (my 13 yr. old) has not been diagnosed with CF and maybe he won't be. SO far he has the F508 gene and they are doing the deletion detection testing and I should get the results next week. I am real glad to know that you guys really like the UAB staff in Birmingham and that they listen to you. Here in Huntsville, I am not tooooo sure yet...JC</end quote></div>

I hope you get good results soon <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
 
A

AnD

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Childressj</b></i>

Hey there

Birmingham people.....I actually work for UAB in Huntsville, AL and there is a CF clinic for Childrens hosptial in Huntsville with Dr. Mahesh-Trevor (my 13 yr. old) has not been diagnosed with CF and maybe he won't be. SO far he has the F508 gene and they are doing the deletion detection testing and I should get the results next week. I am real glad to know that you guys really like the UAB staff in Birmingham and that they listen to you. Here in Huntsville, I am not tooooo sure yet...JC</end quote></div>

I hope you get good results soon <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
 
Z

zoeg

New member
Another question for those of you with PTC124 experience, do you still need enzymes and CPT while on it? What about other meds?

Thanks,
Zoe
 
Z

zoeg

New member
Another question for those of you with PTC124 experience, do you still need enzymes and CPT while on it? What about other meds?

Thanks,
Zoe
 
Z

zoeg

New member
Another question for those of you with PTC124 experience, do you still need enzymes and CPT while on it? What about other meds?

Thanks,
Zoe
 
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