R117H & A455E

[CamrinsMom]

Hi everyone-<div>My 3 month old son has been diagnosed with CF (he was diagnosed at 10 days, and we were made aware that we were carriers when I was pregnant with him)  The genes we carry are R117H and A455E.  He is so healthy right now- he is a little over 15lbs, eats like a champ and is ahead of the game in physical development (so our CF team says). </div><div><br></div><div>Everyone tells me 'oh he will be fine, dont even worry about it, how can he have this if he is so healthy?'</div><div><br></div><div>And I wonder the same thing myself...  The doctors have said he is pancreatic sufficient  and they are even letting us skip our next appointment and come in again when he turns 5 months.</div><div><br></div><div>I dont know if I am just in denial, but I am having a hard time believing it- its almost like thinking about it makes me so depressed, and why think about it when it isnt a problem?  I am crazy all the time making sure things are extra clean and no one touches him without washing their hands first..... Im going nuts and it almost seems like overkill....</div><div><br></div><div>Am  I crazy?? Is anyone else feeling this way?  Does anyone else have this gene combination? </div>

 

[CamrinsMom]

Hi everyone-My 3 month old son has been diagnosed with CF (he was diagnosed at 10 days, and we were made aware that we were carriers when I was pregnant with him) The genes we carry are R117H and A455E. He is so healthy right now- he is a little over 15lbs, eats like a champ and is ahead of the game in physical development (so our CF team says).<br>Everyone tells me 'oh he will be fine, dont even worry about it, how can he have this if he is so healthy?'<br>And I wonder the same thing myself... The doctors have said he is pancreatic sufficient and they are even letting us skip our next appointment and come in again when he turns 5 months.<br>I dont know if I am just in denial, but I am having a hard time believing it- its almost like thinking about it makes me so depressed, and why think about it when it isnt a problem? I am crazy all the time making sure things are extra clean and no one touches him without washing their hands first..... Im going nuts and it almost seems like overkill....<br>Am I crazy?? Is anyone else feeling this way? Does anyone else have this gene combination?

 

[CamrinsMom]

Hi everyone-My 3 month old son has been diagnosed with CF (he was diagnosed at 10 days, and we were made aware that we were carriers when I was pregnant with him) The genes we carry are R117H and A455E. He is so healthy right now- he is a little over 15lbs, eats like a champ and is ahead of the game in physical development (so our CF team says).<br>Everyone tells me 'oh he will be fine, dont even worry about it, how can he have this if he is so healthy?'<br>And I wonder the same thing myself... The doctors have said he is pancreatic sufficient and they are even letting us skip our next appointment and come in again when he turns 5 months.<br>I dont know if I am just in denial, but I am having a hard time believing it- its almost like thinking about it makes me so depressed, and why think about it when it isnt a problem? I am crazy all the time making sure things are extra clean and no one touches him without washing their hands first..... Im going nuts and it almost seems like overkill....<br>Am I crazy?? Is anyone else feeling this way? Does anyone else have this gene combination?

 

[Ratatosk]

DS has a different mutation; however, after spending 6 weeks in the NICU we made darned sure people washed hands before holding him. We weren't/aren't clean freaks by any means but we became more aware of washing down surfaces, using hand sanitizer, avoiding sick people, getting our flu shots... I think clinic days stressed me out more due to the cross contamination issue between people wcf.

DS went to daycare, participates in a number of activities. Pretty much leads a normal life except he does vest and neb treatments, takes a few medications and enzymes..

Welcome...

 

[Ratatosk]

DS has a different mutation; however, after spending 6 weeks in the NICU we made darned sure people washed hands before holding him. We weren't/aren't clean freaks by any means but we became more aware of washing down surfaces, using hand sanitizer, avoiding sick people, getting our flu shots... I think clinic days stressed me out more due to the cross contamination issue between people wcf.

DS went to daycare, participates in a number of activities. Pretty much leads a normal life except he does vest and neb treatments, takes a few medications and enzymes..

Welcome...

 

[Ratatosk]

DS has a different mutation; however, after spending 6 weeks in the NICU we made darned sure people washed hands before holding him. We weren't/aren't clean freaks by any means but we became more aware of washing down surfaces, using hand sanitizer, avoiding sick people, getting our flu shots... I think clinic days stressed me out more due to the cross contamination issue between people wcf.
<br />
<br />DS went to daycare, participates in a number of activities. Pretty much leads a normal life except he does vest and neb treatments, takes a few medications and enzymes..
<br />
<br />Welcome...

 

[Mommafirst]

My daughter was a very healthy newborn, despite being born with a bowel obstruction that led us to CF testing. I spent a long time unable to get my brain around it. Even now, after 6 hospitalizations in 5 years, I look at a very healthy kid that doesn't seem to have obvious signs of disease.

CF is a weird beast and its ebbs and flows differently for everyone. A genetic diagnosis of two known disease causing mutations means you just have to sit and wait for the disease to show itself. Many times with the R117H there is a much later onset. . . so you just need to live your life, enjoy his health, keep being cautious and do what needs to, and know that just like with anything else in life, everything can turn on a dime.

You aren't crazy, but you've been thrown into a crazy situation. This is not going to change. Whether your son stays healthy for another 2 months, 2 years or 20 years, you will always be waiting for that other shoe to drop. It sucks, I'm sorry. And its very hard to explain to outsiders to the CF world how a seemingly healthy looking child can simultaneously be doing great and still have CF at the same time.

 

[Mommafirst]

My daughter was a very healthy newborn, despite being born with a bowel obstruction that led us to CF testing. I spent a long time unable to get my brain around it. Even now, after 6 hospitalizations in 5 years, I look at a very healthy kid that doesn't seem to have obvious signs of disease.

CF is a weird beast and its ebbs and flows differently for everyone. A genetic diagnosis of two known disease causing mutations means you just have to sit and wait for the disease to show itself. Many times with the R117H there is a much later onset. . . so you just need to live your life, enjoy his health, keep being cautious and do what needs to, and know that just like with anything else in life, everything can turn on a dime.

You aren't crazy, but you've been thrown into a crazy situation. This is not going to change. Whether your son stays healthy for another 2 months, 2 years or 20 years, you will always be waiting for that other shoe to drop. It sucks, I'm sorry. And its very hard to explain to outsiders to the CF world how a seemingly healthy looking child can simultaneously be doing great and still have CF at the same time.

 

[Mommafirst]

My daughter was a very healthy newborn, despite being born with a bowel obstruction that led us to CF testing. I spent a long time unable to get my brain around it. Even now, after 6 hospitalizations in 5 years, I look at a very healthy kid that doesn't seem to have obvious signs of disease.
<br />
<br />CF is a weird beast and its ebbs and flows differently for everyone. A genetic diagnosis of two known disease causing mutations means you just have to sit and wait for the disease to show itself. Many times with the R117H there is a much later onset. . . so you just need to live your life, enjoy his health, keep being cautious and do what needs to, and know that just like with anything else in life, everything can turn on a dime.
<br />
<br />You aren't crazy, but you've been thrown into a crazy situation. This is not going to change. Whether your son stays healthy for another 2 months, 2 years or 20 years, you will always be waiting for that other shoe to drop. It sucks, I'm sorry. And its very hard to explain to outsiders to the CF world how a seemingly healthy looking child can simultaneously be doing great and still have CF at the same time.

 

[NancyLKF]

Hi. My daughter doesn't have those mutations. She has two DF508. But she has been very healthy and I often find myself wondering if there was a mistake and she is just a carrier. But then I remember that she is PI and realize that yes, she does have it. But at age 2 1/2 she has only had two colds and has been doing really well lung wise.
We take a lot of precautions - handwashing, staying away from sick people, no daycare, no playgroups, etc and in 2 1/2 years have only missed two treatments I think. Now that it isn't the dead of winter and she's a bit older, we've been having playdates and swim lessons.

It is really hard to wrap your head around CF, especially if your child has been healthy. Hang in there. Go with your gut when it comes to caring for your child and don't let anyone make you feel like you are too protective or crazy - like some people have tried to make me feel. It's hard, but you'll be okay.

 

[NancyLKF]

Hi. My daughter doesn't have those mutations. She has two DF508. But she has been very healthy and I often find myself wondering if there was a mistake and she is just a carrier. But then I remember that she is PI and realize that yes, she does have it. But at age 2 1/2 she has only had two colds and has been doing really well lung wise.
We take a lot of precautions - handwashing, staying away from sick people, no daycare, no playgroups, etc and in 2 1/2 years have only missed two treatments I think. Now that it isn't the dead of winter and she's a bit older, we've been having playdates and swim lessons.

It is really hard to wrap your head around CF, especially if your child has been healthy. Hang in there. Go with your gut when it comes to caring for your child and don't let anyone make you feel like you are too protective or crazy - like some people have tried to make me feel. It's hard, but you'll be okay.

 

[NancyLKF]

Hi. My daughter doesn't have those mutations. She has two DF508. But she has been very healthy and I often find myself wondering if there was a mistake and she is just a carrier. But then I remember that she is PI and realize that yes, she does have it. But at age 2 1/2 she has only had two colds and has been doing really well lung wise.
<br />We take a lot of precautions - handwashing, staying away from sick people, no daycare, no playgroups, etc and in 2 1/2 years have only missed two treatments I think. Now that it isn't the dead of winter and she's a bit older, we've been having playdates and swim lessons.
<br />
<br />It is really hard to wrap your head around CF, especially if your child has been healthy. Hang in there. Go with your gut when it comes to caring for your child and don't let anyone make you feel like you are too protective or crazy - like some people have tried to make me feel. It's hard, but you'll be okay.