Delta508 & G551D

[stephanielapierre]

<br>I am brand new to this site and I was wondering if anyone has these two mutations. My son (1 yr old) was diagnosed shortly after birth with CF. He has no symptoms, but he is on Creon. That his is only medicine other than a vitamin 2 times per day. He is so happy and seems to be healthy. He has never had a cold or any other illness (knock on wood).Thanks for your responses!<br>Stephanie

 

[stephanielapierre]

<br>I am brand new to this site and I was wondering if anyone has these two mutations. My son (1 yr old) was diagnosed shortly after birth with CF. He has no symptoms, but he is on Creon. That his is only medicine other than a vitamin 2 times per day. He is so happy and seems to be healthy. He has never had a cold or any other illness (knock on wood).Thanks for your responses!<br>Stephanie

 

[stephanielapierre]

<br>I am brand new to this site and I was wondering if anyone has these two mutations. My son (1 yr old) was diagnosed shortly after birth with CF. He has no symptoms, but he is on Creon. That his is only medicine other than a vitamin 2 times per day. He is so happy and seems to be healthy. He has never had a cold or any other illness (knock on wood).Thanks for your responses!<br>Stephanie

 

[LouLou]

Hi Stephanie, Welcome to the site. I have the two mutations that your son has. He will be able to benefit from Vertex's new drug that has completed clinical trials and is currently being reviewd by the FDA. It is called Kalydeco. I'm sure you know about it but if not read all about it (and hmm...slap your clinic for not telling you about it!) So you say those are the only meds you do. Certainly you do some sort of airway clearance though too right? There's no doubt with those two mutations, your son has classic cf. Great to hear he has no symptoms (that you can see. recent autopsies have revealed that cf babies without symptoms still have damage making doctors realize that some of it likely starts in utero). So get cracka lackin' and help maintain his health. I think in the next 2-4 years he is going to have life altering treatment opportunities. Can you help staave off the progression until then?

 

[LouLou]

Hi Stephanie, Welcome to the site. I have the two mutations that your son has. He will be able to benefit from Vertex's new drug that has completed clinical trials and is currently being reviewd by the FDA. It is called Kalydeco. I'm sure you know about it but if not read all about it (and hmm...slap your clinic for not telling you about it!) So you say those are the only meds you do. Certainly you do some sort of airway clearance though too right? There's no doubt with those two mutations, your son has classic cf. Great to hear he has no symptoms (that you can see. recent autopsies have revealed that cf babies without symptoms still have damage making doctors realize that some of it likely starts in utero). So get cracka lackin' and help maintain his health. I think in the next 2-4 years he is going to have life altering treatment opportunities. Can you help staave off the progression until then?

 

[LouLou]

Hi Stephanie, Welcome to the site. I have the two mutations that your son has. He will be able to benefit from Vertex's new drug that has completed clinical trials and is currently being reviewd by the FDA. It is called Kalydeco. I'm sure you know about it but if not read all about it (and hmm...slap your clinic for not telling you about it!) So you say those are the only meds you do. Certainly you do some sort of airway clearance though too right? There's no doubt with those two mutations, your son has classic cf. Great to hear he has no symptoms (that you can see. recent autopsies have revealed that cf babies without symptoms still have damage making doctors realize that some of it likely starts in utero). So get cracka lackin' and help maintain his health. I think in the next 2-4 years he is going to have life altering treatment opportunities. Can you help staave off the progression until then?

 

[stephanielapierre]

Lauren,Thanks for your response. Yes, we do CPT on him 2 times per day. He has an appt at his clinic next Monday so I want to ask about a vest. I did attend a seminar where they did speak of that medicine that you mentioned, however, he can't have it as of yet because he is only 1. The trial was for children 6 and older. I want to ask you, how you feel. How have you felt throughout your life? Have you been hospitalized? Was growing up with CF difficult? I want to make sure that I can give my little guy everything I can and make his life as normal as possible. Please tell me about yourself and your daily routines. I hope Im not being too personal. I just want the best for my guy and I want to know what I can expect.Thanks!!!<br>

 

[stephanielapierre]

Lauren,Thanks for your response. Yes, we do CPT on him 2 times per day. He has an appt at his clinic next Monday so I want to ask about a vest. I did attend a seminar where they did speak of that medicine that you mentioned, however, he can't have it as of yet because he is only 1. The trial was for children 6 and older. I want to ask you, how you feel. How have you felt throughout your life? Have you been hospitalized? Was growing up with CF difficult? I want to make sure that I can give my little guy everything I can and make his life as normal as possible. Please tell me about yourself and your daily routines. I hope Im not being too personal. I just want the best for my guy and I want to know what I can expect.Thanks!!!<br>

 

[stephanielapierre]

Lauren,Thanks for your response. Yes, we do CPT on him 2 times per day. He has an appt at his clinic next Monday so I want to ask about a vest. I did attend a seminar where they did speak of that medicine that you mentioned, however, he can't have it as of yet because he is only 1. The trial was for children 6 and older. I want to ask you, how you feel. How have you felt throughout your life? Have you been hospitalized? Was growing up with CF difficult? I want to make sure that I can give my little guy everything I can and make his life as normal as possible. Please tell me about yourself and your daily routines. I hope Im not being too personal. I just want the best for my guy and I want to know what I can expect.Thanks!!!<br>

 

[dasjsmum]

Hi Stephanie

My three kids have the same combination too. They are all doing very well and the two oldest didnt have many health issues from cf until they were in their late teens.

My oldest has been in the vertex trial for two years. Kalydeco is due for the market next year in the US. It's two pills a day. If you live there your child is extremely fortunate, he will benefit from the most exciting advance in cf treatment in a decade at least. He will probably never have to experience the difficulties of cf like generations before him....there is much to be grateful about right now, your son will have a great life.

The only other meds apart from Kalydeco my 32 year old is on is pulmozyme. My 30 year old daughter is doing very well and just ran a 14 kilometre fun run. My third has type 1 diabetes but is really well also <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[dasjsmum]

Hi Stephanie

My three kids have the same combination too. They are all doing very well and the two oldest didnt have many health issues from cf until they were in their late teens.

My oldest has been in the vertex trial for two years. Kalydeco is due for the market next year in the US. It's two pills a day. If you live there your child is extremely fortunate, he will benefit from the most exciting advance in cf treatment in a decade at least. He will probably never have to experience the difficulties of cf like generations before him....there is much to be grateful about right now, your son will have a great life.

The only other meds apart from Kalydeco my 32 year old is on is pulmozyme. My 30 year old daughter is doing very well and just ran a 14 kilometre fun run. My third has type 1 diabetes but is really well also <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[dasjsmum]

Hi Stephanie

My three kids have the same combination too. They are all doing very well and the two oldest didnt have many health issues from cf until they were in their late teens.

My oldest has been in the vertex trial for two years. Kalydeco is due for the market next year in the US. It's two pills a day. If you live there your child is extremely fortunate, he will benefit from the most exciting advance in cf treatment in a decade at least. He will probably never have to experience the difficulties of cf like generations before him....there is much to be grateful about right now, your son will have a great life.

The only other meds apart from Kalydeco my 32 year old is on is pulmozyme. My 30 year old daughter is doing very well and just ran a 14 kilometre fun run. My third has type 1 diabetes but is really well also <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[robert321]

I just found this thread searching on kalydeco, I also have the deltaF508 G551D combination. I hadn't previously payed any attention to my genetics, only knew that one was the deltaf508. Heard from the dr office today about my other mutation and eligibility for kalydeco.
I'm 21, dxed at 14 and running about an 80% fev1

 

[robert321]

I just found this thread searching on kalydeco, I also have the deltaF508 G551D combination. I hadn't previously payed any attention to my genetics, only knew that one was the deltaf508. Heard from the dr office today about my other mutation and eligibility for kalydeco.
I'm 21, dxed at 14 and running about an 80% fev1

 

[robert321]

Also here is another thread on the site about this mutation
http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=2253&highlight_key=y&keyword1=g551d
Hopefully that'll work if not just search g551d and it should bring it up

 

[robert321]

Also here is another thread on the site about this mutation
http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=2253&highlight_key=y&keyword1=g551d
Hopefully that'll work if not just search g551d and it should bring it up

 

[Hardak]

Well your in luck, keep his lungs clear for the first few years and he should be out home free, the G551D mutation has the next best thing to a cure, that just the other day passed FDA for ages 5 and up. And from what I understand DF508 is next on the list from what I hear is in the pipe lines.

 

[Hardak]

Well your in luck, keep his lungs clear for the first few years and he should be out home free, the G551D mutation has the next best thing to a cure, that just the other day passed FDA for ages 5 and up. And from what I understand DF508 is next on the list from what I hear is in the pipe lines.