Rough few days...

[Foody]

Great news! I was thinking of you guys today and hoping she was turning the corner. I bet she'll just go through it with no problems ;-)

Many good thoughts...

Amy, infants present differently and at different times. Some infants present with lung congestion right away others not until much later. Ben would have benefitted from newborn screening as he needed enzymes right away and suffered greatly by not being diagnosed at birth. Her daughter doesn't require enzymes and has no lung involvement - so asymptomatic means no symptoms of CF are presenting at this time and none are. It's really all over the board and not age related.

Sorry emily didn't mean to speak for you but I wasn't sure you had time to answer with your little one coming home from the hospital and all.

 

[Foody]

Great news! I was thinking of you guys today and hoping she was turning the corner. I bet she'll just go through it with no problems ;-)

Many good thoughts...

Amy, infants present differently and at different times. Some infants present with lung congestion right away others not until much later. Ben would have benefitted from newborn screening as he needed enzymes right away and suffered greatly by not being diagnosed at birth. Her daughter doesn't require enzymes and has no lung involvement - so asymptomatic means no symptoms of CF are presenting at this time and none are. It's really all over the board and not age related.

Sorry emily didn't mean to speak for you but I wasn't sure you had time to answer with your little one coming home from the hospital and all.

 

[NoExcuses]

No i get what asymptomatic means, Jody.

I don't know many CFers, if at all, that have lung issues so early in life.

 

[NoExcuses]

No i get what asymptomatic means, Jody.

I don't know many CFers, if at all, that have lung issues so early in life.

 

[NoExcuses]

No i get what asymptomatic means, Jody.

I don't know many CFers, if at all, that have lung issues so early in life.

 

[littledebbie]

If I remember correctly I think Emily's mutations came back as such that she will be asymptomatic. Like a class IV or something? I could be completely off on that but I think thats right..ish <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[littledebbie]

If I remember correctly I think Emily's mutations came back as such that she will be asymptomatic. Like a class IV or something? I could be completely off on that but I think thats right..ish <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[littledebbie]

If I remember correctly I think Emily's mutations came back as such that she will be asymptomatic. Like a class IV or something? I could be completely off on that but I think thats right..ish <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[okok]

I don't mean to be condescending to you at all, sakasuka, but i am going to explain my understanding of what a genetic diagnosis of CF might mean not necesssarily for your benefit since i suspect you may already know all this but just for the benefit of people in general.

Most carriers of the df508 allele have only 50% functioning CFTR protein yet they have no cf symptoms (they have one good copy (allele) and one mutant allele.) It turns out that there is a large plasitcity regarding how much functioning CFTR protien is required to be biochemically "normal." I think i have read that as little as 10% of functional protein is sufficient to produce a normal or mild phenotype. This means that if an individual has even just one mutation that retains at least 10% of CFTR function then there is a possibility the disease will be very, very mild. Of course there are other modifer genes which may also play a role in this process so it can vary somewhat for each person. A genetic diagnosis might mean that a person has two mutated cftr alleles yet at least one alelle is known to retain some cftr function and therefore produce a normal/mild phenotype. i don't know emily's daughters genotype but the doctors might honestly think that there is a chance emily's 5 month old could go her entire life without any symptoms. I certainly hope they are right!

Someone please correct me if i am wrong since i may have remembered this all wrong! thanks.

Emily, i'm glad to hear your daughter is feeling better and heading home. I hope everything continues to go well for her.

 

[okok]

I don't mean to be condescending to you at all, sakasuka, but i am going to explain my understanding of what a genetic diagnosis of CF might mean not necesssarily for your benefit since i suspect you may already know all this but just for the benefit of people in general.

Most carriers of the df508 allele have only 50% functioning CFTR protein yet they have no cf symptoms (they have one good copy (allele) and one mutant allele.) It turns out that there is a large plasitcity regarding how much functioning CFTR protien is required to be biochemically "normal." I think i have read that as little as 10% of functional protein is sufficient to produce a normal or mild phenotype. This means that if an individual has even just one mutation that retains at least 10% of CFTR function then there is a possibility the disease will be very, very mild. Of course there are other modifer genes which may also play a role in this process so it can vary somewhat for each person. A genetic diagnosis might mean that a person has two mutated cftr alleles yet at least one alelle is known to retain some cftr function and therefore produce a normal/mild phenotype. i don't know emily's daughters genotype but the doctors might honestly think that there is a chance emily's 5 month old could go her entire life without any symptoms. I certainly hope they are right!

Someone please correct me if i am wrong since i may have remembered this all wrong! thanks.

Emily, i'm glad to hear your daughter is feeling better and heading home. I hope everything continues to go well for her.

 

[okok]

I don't mean to be condescending to you at all, sakasuka, but i am going to explain my understanding of what a genetic diagnosis of CF might mean not necesssarily for your benefit since i suspect you may already know all this but just for the benefit of people in general.

Most carriers of the df508 allele have only 50% functioning CFTR protein yet they have no cf symptoms (they have one good copy (allele) and one mutant allele.) It turns out that there is a large plasitcity regarding how much functioning CFTR protien is required to be biochemically "normal." I think i have read that as little as 10% of functional protein is sufficient to produce a normal or mild phenotype. This means that if an individual has even just one mutation that retains at least 10% of CFTR function then there is a possibility the disease will be very, very mild. Of course there are other modifer genes which may also play a role in this process so it can vary somewhat for each person. A genetic diagnosis might mean that a person has two mutated cftr alleles yet at least one alelle is known to retain some cftr function and therefore produce a normal/mild phenotype. i don't know emily's daughters genotype but the doctors might honestly think that there is a chance emily's 5 month old could go her entire life without any symptoms. I certainly hope they are right!

Someone please correct me if i am wrong since i may have remembered this all wrong! thanks.

Emily, i'm glad to hear your daughter is feeling better and heading home. I hope everything continues to go well for her.

 

[lemonstolemonade]

We had a great night last night. She slept all night even through her breathing treatments (that is THE BEST...not to have to "fight" with her to do it). Got up at 6 ate and went right back down for another 2 hours. She's playing and happy, just continues to be a snot factory.

As for the asymptomatic part:

We recieved a prenatal (through amnio) diagnosis that she would have CF. We've learned through research that her gene combination (Delta F508 and R117H-7T) is classified as asymtomatic and a genetic diagnosis until symptoms present themselves and then we are classified as having a clinical diagnosis. Unless something totally strange happens, she'll most likely continue to be pancreatic sufficient and the only thing we'll have to worry about is keeping her little lungs healthy for as long as we can. With any luck, she will remain (respiratory) asymptomatic for years and years and years, but because of the degenerative nature of this disease, we know that there will most likely be a point when she will have problems. Alyssa's children have her same gene combination.

I'm just glad that we knew ahead of time so that we can do preventative care and keep her as healthy as we can for as long as we can...Bumps in the road to long, healthy living like getting RSV (which can cause breathing problems for children after it is over) make me panic a bit.


As for whether or not 5 (almost 6) month olds present symptoms at such an early age. I don't know. I just know that I've seen some sad, sad, sad babies in carriers at the CF clinic in our area and I'm greatful that we don't have those struggles at this point. Asymptomatic is a term that my clinic uses to describe her status right now, so that I what I use. Sorry if it causes confusion or issue.

I'm just glad my baby's home. Now, I become the germ nazi that I should have been all along.

Em

 

[lemonstolemonade]

We had a great night last night. She slept all night even through her breathing treatments (that is THE BEST...not to have to "fight" with her to do it). Got up at 6 ate and went right back down for another 2 hours. She's playing and happy, just continues to be a snot factory.

As for the asymptomatic part:

We recieved a prenatal (through amnio) diagnosis that she would have CF. We've learned through research that her gene combination (Delta F508 and R117H-7T) is classified as asymtomatic and a genetic diagnosis until symptoms present themselves and then we are classified as having a clinical diagnosis. Unless something totally strange happens, she'll most likely continue to be pancreatic sufficient and the only thing we'll have to worry about is keeping her little lungs healthy for as long as we can. With any luck, she will remain (respiratory) asymptomatic for years and years and years, but because of the degenerative nature of this disease, we know that there will most likely be a point when she will have problems. Alyssa's children have her same gene combination.

I'm just glad that we knew ahead of time so that we can do preventative care and keep her as healthy as we can for as long as we can...Bumps in the road to long, healthy living like getting RSV (which can cause breathing problems for children after it is over) make me panic a bit.


As for whether or not 5 (almost 6) month olds present symptoms at such an early age. I don't know. I just know that I've seen some sad, sad, sad babies in carriers at the CF clinic in our area and I'm greatful that we don't have those struggles at this point. Asymptomatic is a term that my clinic uses to describe her status right now, so that I what I use. Sorry if it causes confusion or issue.

I'm just glad my baby's home. Now, I become the germ nazi that I should have been all along.

Em

 

[lemonstolemonade]

We had a great night last night. She slept all night even through her breathing treatments (that is THE BEST...not to have to "fight" with her to do it). Got up at 6 ate and went right back down for another 2 hours. She's playing and happy, just continues to be a snot factory.

As for the asymptomatic part:

We recieved a prenatal (through amnio) diagnosis that she would have CF. We've learned through research that her gene combination (Delta F508 and R117H-7T) is classified as asymtomatic and a genetic diagnosis until symptoms present themselves and then we are classified as having a clinical diagnosis. Unless something totally strange happens, she'll most likely continue to be pancreatic sufficient and the only thing we'll have to worry about is keeping her little lungs healthy for as long as we can. With any luck, she will remain (respiratory) asymptomatic for years and years and years, but because of the degenerative nature of this disease, we know that there will most likely be a point when she will have problems. Alyssa's children have her same gene combination.

I'm just glad that we knew ahead of time so that we can do preventative care and keep her as healthy as we can for as long as we can...Bumps in the road to long, healthy living like getting RSV (which can cause breathing problems for children after it is over) make me panic a bit.


As for whether or not 5 (almost 6) month olds present symptoms at such an early age. I don't know. I just know that I've seen some sad, sad, sad babies in carriers at the CF clinic in our area and I'm greatful that we don't have those struggles at this point. Asymptomatic is a term that my clinic uses to describe her status right now, so that I what I use. Sorry if it causes confusion or issue.

I'm just glad my baby's home. Now, I become the germ nazi that I should have been all along.

Em

 

[debs2girls]

I am so glad to hear that she is home and doing so well...that is great news...


Amy, my dd had symptoms of C/F almost from birth...of course at the time we didnt know it was C/F symptoms. By that age, she had already had pneumonia 4 times...was on reflux meds...was ftt...on special formula that costs $45.00 per can..etc...

The above to Amy, was not written with malase or sarcasm..lol.

 

[debs2girls]

I am so glad to hear that she is home and doing so well...that is great news...


Amy, my dd had symptoms of C/F almost from birth...of course at the time we didnt know it was C/F symptoms. By that age, she had already had pneumonia 4 times...was on reflux meds...was ftt...on special formula that costs $45.00 per can..etc...

The above to Amy, was not written with malase or sarcasm..lol.

 

[debs2girls]

I am so glad to hear that she is home and doing so well...that is great news...


Amy, my dd had symptoms of C/F almost from birth...of course at the time we didnt know it was C/F symptoms. By that age, she had already had pneumonia 4 times...was on reflux meds...was ftt...on special formula that costs $45.00 per can..etc...

The above to Amy, was not written with malase or sarcasm..lol.

 

[Ratatosk]

I think you've mentioned in the past that you don't do breathing/cpt treatments because she's not symptomatic, but might be a good idea to start doing so to keep stuff moving up and out of the lungs. When RSV was going around our area and DS did get a little bit of a wheeze, upper respiratory bug, his doctor told us to increase CPT to "beat that cough out of him"

My coworker's grandson had it when he was a few months old and still has issues with when there's colder weather or he develops a cold, it seems to turn into something worse. Asthma seems to run in his family, so it could be unrelated, but they seem to think that the RSV triggered it.

From what I understand -- my niece & nephew had RSV years ago -- it involves LOTS of MUCUS. The synagis shot is sorta like the flu shot -- RSV is made up of numerous viruses, so they pick ones that most likely cause RSV. At least the shots help to decrease the symptoms and amount time the virus lingers. Imagine if she hadn't had the shots...

Glad she's home and feeling better.

 

[Ratatosk]

I think you've mentioned in the past that you don't do breathing/cpt treatments because she's not symptomatic, but might be a good idea to start doing so to keep stuff moving up and out of the lungs. When RSV was going around our area and DS did get a little bit of a wheeze, upper respiratory bug, his doctor told us to increase CPT to "beat that cough out of him"

My coworker's grandson had it when he was a few months old and still has issues with when there's colder weather or he develops a cold, it seems to turn into something worse. Asthma seems to run in his family, so it could be unrelated, but they seem to think that the RSV triggered it.

From what I understand -- my niece & nephew had RSV years ago -- it involves LOTS of MUCUS. The synagis shot is sorta like the flu shot -- RSV is made up of numerous viruses, so they pick ones that most likely cause RSV. At least the shots help to decrease the symptoms and amount time the virus lingers. Imagine if she hadn't had the shots...

Glad she's home and feeling better.

 

[Ratatosk]

I think you've mentioned in the past that you don't do breathing/cpt treatments because she's not symptomatic, but might be a good idea to start doing so to keep stuff moving up and out of the lungs. When RSV was going around our area and DS did get a little bit of a wheeze, upper respiratory bug, his doctor told us to increase CPT to "beat that cough out of him"

My coworker's grandson had it when he was a few months old and still has issues with when there's colder weather or he develops a cold, it seems to turn into something worse. Asthma seems to run in his family, so it could be unrelated, but they seem to think that the RSV triggered it.

From what I understand -- my niece & nephew had RSV years ago -- it involves LOTS of MUCUS. The synagis shot is sorta like the flu shot -- RSV is made up of numerous viruses, so they pick ones that most likely cause RSV. At least the shots help to decrease the symptoms and amount time the virus lingers. Imagine if she hadn't had the shots...

Glad she's home and feeling better.