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dornanmark

New member
My 10 week old son was diagnosed with the this gene mutation yesterday, he is thriveing well alomst 14lbs appears very healthy, some weezing & snoring. Myself and my wife are really scared are are scheduled to see a CF specailist next week for I guess sweat testing & more. Is there anyone who has or knows anyone with these two same mutations? Any information would be greatly appreciated.
 
D

dornanmark

New member
My 10 week old son was diagnosed with the this gene mutation yesterday, he is thriveing well alomst 14lbs appears very healthy, some weezing & snoring. Myself and my wife are really scared are are scheduled to see a CF specailist next week for I guess sweat testing & more. Is there anyone who has or knows anyone with these two same mutations? Any information would be greatly appreciated.
 
D

dornanmark

New member
My 10 week old son was diagnosed with the this gene mutation yesterday, he is thriveing well alomst 14lbs appears very healthy, some weezing & snoring. Myself and my wife are really scared are are scheduled to see a CF specailist next week for I guess sweat testing & more. Is there anyone who has or knows anyone with these two same mutations? Any information would be greatly appreciated.
 
J

jpetersen

New member
I tell every parent to stop being so stinking scared because the median survival rate is almost 40 years old. That's a nearly normal life, just with treatments, medications, and some hospital stays thrown in there. Kids deal with it way better than you ever will. I'm double DF508 - It's not mild by any means, but I'm 31, married, own my own business and home, and live a normal life except treatments.
 
J

jpetersen

New member
I tell every parent to stop being so stinking scared because the median survival rate is almost 40 years old. That's a nearly normal life, just with treatments, medications, and some hospital stays thrown in there. Kids deal with it way better than you ever will. I'm double DF508 - It's not mild by any means, but I'm 31, married, own my own business and home, and live a normal life except treatments.
 
J

jpetersen

New member
I tell every parent to stop being so stinking scared because the median survival rate is almost 40 years old. That's a nearly normal life, just with treatments, medications, and some hospital stays thrown in there. Kids deal with it way better than you ever will. I'm double DF508 - It's not mild by any means, but I'm 31, married, own my own business and home, and live a normal life except treatments.
 
H

hmw

New member
I am sorry you got the above response and I/no one else saw this any sooner to respond in a more appropriate, empathetic manner fitting your circumstances. Of course you are scared and shocked and any other manner of emotion right now. <img src="i/expressions/rose.gif" border="0"> None of us will ever forget the day our child was dx'ed, no matter how old they were.

First, I am SO glad that to date your son is doing well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> The time around diagnosis is always so overwhelming... whether they are babies or older. My daughter was 7 when she was diagnosed. Many here have had children diagnosed around the same age as your child.

What to expect at your first clinic appointment: it will no doubt feel kind of overwhelming- there are a lot of people you will meet there who you'll see at each visit; so expect to be there for a good couple hours. There is a nutritionist who will be advising you on how best to help your baby grow/gain weight as he gets older. A social worker is instrumental through this early time in helping work out insurance issues and in helping your family learn about the disease and make sure all of you are getting through this time ok. The respiratory therapist will teach you how to do chest physical therapy on your baby to help keep airways clear (once he's older the rt will assess lung function at visits.) The cf nurse is someone you will get to know- you see this person at each visit and likely speak to them when you call the clinic when your child is sick. You will also, of course, meet at least one of the pulmonologists there who specializes in cf. The baby may have labs drawn as a baseline (they like to check vitamin levels and other routine stuff yearly), maybe a chest xray, also to get his baseline and a sputum sample will be taken (back of throat will be swabbed in all likelihood.)

My daughter has one df508 mutation, we aren't sure of her other one. Maybe someone else will come along who knows about the other one your child has. However, in the world of cf, no 2 cases are the same- you can have two people with identical mutations (even within the same family) and they can turn out very differently. So doing the best you can to learn about the disease and to be proactive with treatment to stay ahead of things is the most valuable thing you can do. There is a lot of support to be had here... come to the Families forum to meet other parents. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
I am sorry you got the above response and I/no one else saw this any sooner to respond in a more appropriate, empathetic manner fitting your circumstances. Of course you are scared and shocked and any other manner of emotion right now. <img src="i/expressions/rose.gif" border="0"> None of us will ever forget the day our child was dx'ed, no matter how old they were.

First, I am SO glad that to date your son is doing well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> The time around diagnosis is always so overwhelming... whether they are babies or older. My daughter was 7 when she was diagnosed. Many here have had children diagnosed around the same age as your child.

What to expect at your first clinic appointment: it will no doubt feel kind of overwhelming- there are a lot of people you will meet there who you'll see at each visit; so expect to be there for a good couple hours. There is a nutritionist who will be advising you on how best to help your baby grow/gain weight as he gets older. A social worker is instrumental through this early time in helping work out insurance issues and in helping your family learn about the disease and make sure all of you are getting through this time ok. The respiratory therapist will teach you how to do chest physical therapy on your baby to help keep airways clear (once he's older the rt will assess lung function at visits.) The cf nurse is someone you will get to know- you see this person at each visit and likely speak to them when you call the clinic when your child is sick. You will also, of course, meet at least one of the pulmonologists there who specializes in cf. The baby may have labs drawn as a baseline (they like to check vitamin levels and other routine stuff yearly), maybe a chest xray, also to get his baseline and a sputum sample will be taken (back of throat will be swabbed in all likelihood.)

My daughter has one df508 mutation, we aren't sure of her other one. Maybe someone else will come along who knows about the other one your child has. However, in the world of cf, no 2 cases are the same- you can have two people with identical mutations (even within the same family) and they can turn out very differently. So doing the best you can to learn about the disease and to be proactive with treatment to stay ahead of things is the most valuable thing you can do. There is a lot of support to be had here... come to the Families forum to meet other parents. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
I am sorry you got the above response and I/no one else saw this any sooner to respond in a more appropriate, empathetic manner fitting your circumstances. Of course you are scared and shocked and any other manner of emotion right now. <img src="i/expressions/rose.gif" border="0"> None of us will ever forget the day our child was dx'ed, no matter how old they were.
<br />
<br />First, I am SO glad that to date your son is doing well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> The time around diagnosis is always so overwhelming... whether they are babies or older. My daughter was 7 when she was diagnosed. Many here have had children diagnosed around the same age as your child.
<br />
<br />What to expect at your first clinic appointment: it will no doubt feel kind of overwhelming- there are a lot of people you will meet there who you'll see at each visit; so expect to be there for a good couple hours. There is a nutritionist who will be advising you on how best to help your baby grow/gain weight as he gets older. A social worker is instrumental through this early time in helping work out insurance issues and in helping your family learn about the disease and make sure all of you are getting through this time ok. The respiratory therapist will teach you how to do chest physical therapy on your baby to help keep airways clear (once he's older the rt will assess lung function at visits.) The cf nurse is someone you will get to know- you see this person at each visit and likely speak to them when you call the clinic when your child is sick. You will also, of course, meet at least one of the pulmonologists there who specializes in cf. The baby may have labs drawn as a baseline (they like to check vitamin levels and other routine stuff yearly), maybe a chest xray, also to get his baseline and a sputum sample will be taken (back of throat will be swabbed in all likelihood.)
<br />
<br />My daughter has one df508 mutation, we aren't sure of her other one. Maybe someone else will come along who knows about the other one your child has. However, in the world of cf, no 2 cases are the same- you can have two people with identical mutations (even within the same family) and they can turn out very differently. So doing the best you can to learn about the disease and to be proactive with treatment to stay ahead of things is the most valuable thing you can do. There is a lot of support to be had here... come to the Families forum to meet other parents. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

SadiesMom

New member
As a parent, it's always terrifying to find out that something isn't right with your baby, so I think that's a completely normal reaction. I remember when our daughter was diagnosed and it's a helpless feeling. There's an ambry post in the newly diagnosed forum (I think...here's the link, <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/forums/messageview.cfm?catid=6&threadid=12677)">http://www.cysticfibrosis.com/...atid=6&threadid=12677)</a> that might be able to give you some insight into your child's mutation. I'm glad to hear he's doing well, and I promise it does get easier.
 
S

SadiesMom

New member
As a parent, it's always terrifying to find out that something isn't right with your baby, so I think that's a completely normal reaction. I remember when our daughter was diagnosed and it's a helpless feeling. There's an ambry post in the newly diagnosed forum (I think...here's the link, <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/forums/messageview.cfm?catid=6&threadid=12677)">http://www.cysticfibrosis.com/...atid=6&threadid=12677)</a> that might be able to give you some insight into your child's mutation. I'm glad to hear he's doing well, and I promise it does get easier.
 
S

SadiesMom

New member
As a parent, it's always terrifying to find out that something isn't right with your baby, so I think that's a completely normal reaction. I remember when our daughter was diagnosed and it's a helpless feeling. There's an ambry post in the newly diagnosed forum (I think...here's the link, <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/forums/messageview.cfm?catid=6&threadid=12677)">http://www.cysticfibrosis.com/...atid=6&threadid=12677)</a> that might be able to give you some insight into your child's mutation. I'm glad to hear he's doing well, and I promise it does get easier.
 
C

Cherylwithone

Guest
Harriett gave you a really good run down on what will happen
on the first visit. Bing a note pad. I do not know of one parent that was not scared. We have all cried tears with the news when told. But, it does get easier. They will tell you all about proventive care and you need to be proactive. Don't be afraid to ask questions. There is alot of support here at this site. If you have time read some of
the post from the family section.

Good luck at your appointment.
 
C

Cherylwithone

Guest
Harriett gave you a really good run down on what will happen
on the first visit. Bing a note pad. I do not know of one parent that was not scared. We have all cried tears with the news when told. But, it does get easier. They will tell you all about proventive care and you need to be proactive. Don't be afraid to ask questions. There is alot of support here at this site. If you have time read some of
the post from the family section.

Good luck at your appointment.
 
C

Cherylwithone

Guest
Harriett gave you a really good run down on what will happen
<br />on the first visit. Bing a note pad. I do not know of one parent that was not scared. We have all cried tears with the news when told. But, it does get easier. They will tell you all about proventive care and you need to be proactive. Don't be afraid to ask questions. There is alot of support here at this site. If you have time read some of
<br />the post from the family section.
<br />
<br />Good luck at your appointment.
 
M

Mommafirst

Guest
Welcome -- I'm so sorry that you are dealing with the diagnosis stage. It is such a hard time... having a newborn you adore and all the worry and sadness that comes along in finding out he has CF. We have all been there. I don't know that it is much consolation right now, but it does get easier.

The first CF clinic is LONG and overwhelming. Bring a notebook -- take notes. And don't be afraid to ask questions, or to reask them at future time.

I'm not going to tell you that everything is going to be fine. With CF you will have some really great totally normal times, and you will have some not great difficult times. But there are lots of good meds available now and on the horizon that will help you to give your son WAY more of the really good days. Unlike the first poster to respond to you, I do not believe that 40 is anywhere near a normal life span -- to tell you so diminishes the reality of this disease. But I do know that there is great hope for our kids, diagnosed so young and able to get great CF care before they lose lung function.
 
M

Mommafirst

Guest
Welcome -- I'm so sorry that you are dealing with the diagnosis stage. It is such a hard time... having a newborn you adore and all the worry and sadness that comes along in finding out he has CF. We have all been there. I don't know that it is much consolation right now, but it does get easier.

The first CF clinic is LONG and overwhelming. Bring a notebook -- take notes. And don't be afraid to ask questions, or to reask them at future time.

I'm not going to tell you that everything is going to be fine. With CF you will have some really great totally normal times, and you will have some not great difficult times. But there are lots of good meds available now and on the horizon that will help you to give your son WAY more of the really good days. Unlike the first poster to respond to you, I do not believe that 40 is anywhere near a normal life span -- to tell you so diminishes the reality of this disease. But I do know that there is great hope for our kids, diagnosed so young and able to get great CF care before they lose lung function.
 
M

Mommafirst

Guest
Welcome -- I'm so sorry that you are dealing with the diagnosis stage. It is such a hard time... having a newborn you adore and all the worry and sadness that comes along in finding out he has CF. We have all been there. I don't know that it is much consolation right now, but it does get easier.
<br />
<br />The first CF clinic is LONG and overwhelming. Bring a notebook -- take notes. And don't be afraid to ask questions, or to reask them at future time.
<br />
<br />I'm not going to tell you that everything is going to be fine. With CF you will have some really great totally normal times, and you will have some not great difficult times. But there are lots of good meds available now and on the horizon that will help you to give your son WAY more of the really good days. Unlike the first poster to respond to you, I do not believe that 40 is anywhere near a normal life span -- to tell you so diminishes the reality of this disease. But I do know that there is great hope for our kids, diagnosed so young and able to get great CF care before they lose lung function.
 
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