Genetic Results In

[jenlevy33]

After 9 weeks & alot of agonizing, I finally got my son's results. He is what the doctor says is a complex carrier. He has Delta 508 & a benign varient R17OH.
After talking with Steve I found out that R17OH was only in the Ambry system for about 30 people. Has anyone heard of this? The doctor said he would not have Cystic Fibrosis but that the CF Center would probably want to see him.
I carry the Delta 508 so that wasn't a suprise.

 

[jenlevy33]

After 9 weeks & alot of agonizing, I finally got my son's results. He is what the doctor says is a complex carrier. He has Delta 508 & a benign varient R17OH.
After talking with Steve I found out that R17OH was only in the Ambry system for about 30 people. Has anyone heard of this? The doctor said he would not have Cystic Fibrosis but that the CF Center would probably want to see him.
I carry the Delta 508 so that wasn't a suprise.

 

[jenlevy33]

After 9 weeks & alot of agonizing, I finally got my son's results. He is what the doctor says is a complex carrier. He has Delta 508 & a benign varient R17OH.
After talking with Steve I found out that R17OH was only in the Ambry system for about 30 people. Has anyone heard of this? The doctor said he would not have Cystic Fibrosis but that the CF Center would probably want to see him.
I carry the Delta 508 so that wasn't a suprise.

 

[jenlevy33]

After 9 weeks & alot of agonizing, I finally got my son's results. He is what the doctor says is a complex carrier. He has Delta 508 & a benign varient R17OH.
After talking with Steve I found out that R17OH was only in the Ambry system for about 30 people. Has anyone heard of this? The doctor said he would not have Cystic Fibrosis but that the CF Center would probably want to see him.
I carry the Delta 508 so that wasn't a suprise.

 

[jenlevy33]

After 9 weeks & alot of agonizing, I finally got my son's results. He is what the doctor says is a complex carrier. He has Delta 508 & a benign varient R17OH.
After talking with Steve I found out that R17OH was only in the Ambry system for about 30 people. Has anyone heard of this? The doctor said he would not have Cystic Fibrosis but that the CF Center would probably want to see him.
I carry the Delta 508 so that wasn't a suprise.

 

[sdelorenzo]

So that is good news!!!?! I haven't heard of a complex carrier, but it sounds like he doesn't have cf. Thanks for the update.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

 

[sdelorenzo]

So that is good news!!!?! I haven't heard of a complex carrier, but it sounds like he doesn't have cf. Thanks for the update.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

 

[sdelorenzo]

So that is good news!!!?! I haven't heard of a complex carrier, but it sounds like he doesn't have cf. Thanks for the update.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

 

[sdelorenzo]

So that is good news!!!?! I haven't heard of a complex carrier, but it sounds like he doesn't have cf. Thanks for the update.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

 

[sdelorenzo]

So that is good news!!!?! I haven't heard of a complex carrier, but it sounds like he doesn't have cf. Thanks for the update.
Sharon, mom of Sophia, 6 and Jack, 4 both with cf

 

[Mommafirst]

I have not heard of the R17OH, but I do know about having a fairly unknown mutation. My daughter's second mutation (Y1032C) has only 6 known people with it according to Ambry. For ours they originally said they'd give my daughter a "genetic" diagnosis but not a "clinical" one until/unless she developed symptoms. But within a few months she cultured staph, had an exacerbation, and has since has lost her pancreatic function. So we are clinically diagnosed now. I have no idea if this is the same as a "complex carrier" but I thought you might want to hear our story. I hope yours is more simple -- and he is just a carrier.

 

[Mommafirst]

I have not heard of the R17OH, but I do know about having a fairly unknown mutation. My daughter's second mutation (Y1032C) has only 6 known people with it according to Ambry. For ours they originally said they'd give my daughter a "genetic" diagnosis but not a "clinical" one until/unless she developed symptoms. But within a few months she cultured staph, had an exacerbation, and has since has lost her pancreatic function. So we are clinically diagnosed now. I have no idea if this is the same as a "complex carrier" but I thought you might want to hear our story. I hope yours is more simple -- and he is just a carrier.

 

[Mommafirst]

I have not heard of the R17OH, but I do know about having a fairly unknown mutation. My daughter's second mutation (Y1032C) has only 6 known people with it according to Ambry. For ours they originally said they'd give my daughter a "genetic" diagnosis but not a "clinical" one until/unless she developed symptoms. But within a few months she cultured staph, had an exacerbation, and has since has lost her pancreatic function. So we are clinically diagnosed now. I have no idea if this is the same as a "complex carrier" but I thought you might want to hear our story. I hope yours is more simple -- and he is just a carrier.

 

[Mommafirst]

I have not heard of the R17OH, but I do know about having a fairly unknown mutation. My daughter's second mutation (Y1032C) has only 6 known people with it according to Ambry. For ours they originally said they'd give my daughter a "genetic" diagnosis but not a "clinical" one until/unless she developed symptoms. But within a few months she cultured staph, had an exacerbation, and has since has lost her pancreatic function. So we are clinically diagnosed now. I have no idea if this is the same as a "complex carrier" but I thought you might want to hear our story. I hope yours is more simple -- and he is just a carrier.

 

[Mommafirst]

I have not heard of the R17OH, but I do know about having a fairly unknown mutation. My daughter's second mutation (Y1032C) has only 6 known people with it according to Ambry. For ours they originally said they'd give my daughter a "genetic" diagnosis but not a "clinical" one until/unless she developed symptoms. But within a few months she cultured staph, had an exacerbation, and has since has lost her pancreatic function. So we are clinically diagnosed now. I have no idea if this is the same as a "complex carrier" but I thought you might want to hear our story. I hope yours is more simple -- and he is just a carrier.

 

[NoExcuses]

Going off of just genetics to predict clinical outcome, as Heather has demonstrated, is quite flawed. It's not only the genes that influence clinical outcome - it's also environment, modifier genes, compliance, etc.

The best way to prevent progression of the disease is to prevent and pre-empt exacerbations. So having a doctor state that we'll treat the disease when/if symptoms arise really goes against logic in terms of prolonging life.

Just something to think about.

 

[NoExcuses]

Going off of just genetics to predict clinical outcome, as Heather has demonstrated, is quite flawed. It's not only the genes that influence clinical outcome - it's also environment, modifier genes, compliance, etc.

The best way to prevent progression of the disease is to prevent and pre-empt exacerbations. So having a doctor state that we'll treat the disease when/if symptoms arise really goes against logic in terms of prolonging life.

Just something to think about.

 

[NoExcuses]

Going off of just genetics to predict clinical outcome, as Heather has demonstrated, is quite flawed. It's not only the genes that influence clinical outcome - it's also environment, modifier genes, compliance, etc.

The best way to prevent progression of the disease is to prevent and pre-empt exacerbations. So having a doctor state that we'll treat the disease when/if symptoms arise really goes against logic in terms of prolonging life.

Just something to think about.

 

[NoExcuses]

Going off of just genetics to predict clinical outcome, as Heather has demonstrated, is quite flawed. It's not only the genes that influence clinical outcome - it's also environment, modifier genes, compliance, etc.

The best way to prevent progression of the disease is to prevent and pre-empt exacerbations. So having a doctor state that we'll treat the disease when/if symptoms arise really goes against logic in terms of prolonging life.

Just something to think about.

 

[NoExcuses]

Going off of just genetics to predict clinical outcome, as Heather has demonstrated, is quite flawed. It's not only the genes that influence clinical outcome - it's also environment, modifier genes, compliance, etc.

The best way to prevent progression of the disease is to prevent and pre-empt exacerbations. So having a doctor state that we'll treat the disease when/if symptoms arise really goes against logic in terms of prolonging life.

Just something to think about.