R117H

JandJ1224

New member
I had posted yesterday about my dd being tested. If she has CF this is the one mutation that is known. Does anyone have any experience with this mutation.
Thanks!
 

JandJ1224

New member
I had posted yesterday about my dd being tested. If she has CF this is the one mutation that is known. Does anyone have any experience with this mutation.
Thanks!
 

JandJ1224

New member
I had posted yesterday about my dd being tested. If she has CF this is the one mutation that is known. Does anyone have any experience with this mutation.
Thanks!
 

JandJ1224

New member
I had posted yesterday about my dd being tested. If she has CF this is the one mutation that is known. Does anyone have any experience with this mutation.
Thanks!
 

JandJ1224

New member
I had posted yesterday about my dd being tested. If she has CF this is the one mutation that is known. Does anyone have any experience with this mutation.
<br />Thanks!
 

saveferris2009

New member
I have no info but please keep in mind that gene mutations don't necessarily predict CF outcomes.

Many people with the exact same mutations have very different phenotypes. take care
 

saveferris2009

New member
I have no info but please keep in mind that gene mutations don't necessarily predict CF outcomes.

Many people with the exact same mutations have very different phenotypes. take care
 

saveferris2009

New member
I have no info but please keep in mind that gene mutations don't necessarily predict CF outcomes.

Many people with the exact same mutations have very different phenotypes. take care
 

saveferris2009

New member
I have no info but please keep in mind that gene mutations don't necessarily predict CF outcomes.

Many people with the exact same mutations have very different phenotypes. take care
 

saveferris2009

New member
I have no info but please keep in mind that gene mutations don't necessarily predict CF outcomes.
<br />
<br />Many people with the exact same mutations have very different phenotypes. take care
 

holmfamily1992

New member
Hi there,

This is the same mutation that my 4 children have. They have not found any other mutation yet. The only thing that I can say about this mutation is that is rare. From what Ambry told us, they don't know much about it.

Each one of my kids are different as far as symptoms. One is not PI but had a feeding tube in place last October and his CF symptoms are worse then the others. Another, we just found out is PI and has the least amount of symptoms right now. My daughter is at risk for bacterial infections more then the others. And my last daughter presents with more asthma symptoms.

So each one is completely different. I have not found out a whole lot about this paticular mutation and continue to look every so often.

Hope this helps you,
Tina, mom to 8, 4 with CF
 

holmfamily1992

New member
Hi there,

This is the same mutation that my 4 children have. They have not found any other mutation yet. The only thing that I can say about this mutation is that is rare. From what Ambry told us, they don't know much about it.

Each one of my kids are different as far as symptoms. One is not PI but had a feeding tube in place last October and his CF symptoms are worse then the others. Another, we just found out is PI and has the least amount of symptoms right now. My daughter is at risk for bacterial infections more then the others. And my last daughter presents with more asthma symptoms.

So each one is completely different. I have not found out a whole lot about this paticular mutation and continue to look every so often.

Hope this helps you,
Tina, mom to 8, 4 with CF
 

holmfamily1992

New member
Hi there,

This is the same mutation that my 4 children have. They have not found any other mutation yet. The only thing that I can say about this mutation is that is rare. From what Ambry told us, they don't know much about it.

Each one of my kids are different as far as symptoms. One is not PI but had a feeding tube in place last October and his CF symptoms are worse then the others. Another, we just found out is PI and has the least amount of symptoms right now. My daughter is at risk for bacterial infections more then the others. And my last daughter presents with more asthma symptoms.

So each one is completely different. I have not found out a whole lot about this paticular mutation and continue to look every so often.

Hope this helps you,
Tina, mom to 8, 4 with CF
 

holmfamily1992

New member
Hi there,

This is the same mutation that my 4 children have. They have not found any other mutation yet. The only thing that I can say about this mutation is that is rare. From what Ambry told us, they don't know much about it.

Each one of my kids are different as far as symptoms. One is not PI but had a feeding tube in place last October and his CF symptoms are worse then the others. Another, we just found out is PI and has the least amount of symptoms right now. My daughter is at risk for bacterial infections more then the others. And my last daughter presents with more asthma symptoms.

So each one is completely different. I have not found out a whole lot about this paticular mutation and continue to look every so often.

Hope this helps you,
Tina, mom to 8, 4 with CF
 

holmfamily1992

New member
Hi there,
<br />
<br />This is the same mutation that my 4 children have. They have not found any other mutation yet. The only thing that I can say about this mutation is that is rare. From what Ambry told us, they don't know much about it.
<br />
<br />Each one of my kids are different as far as symptoms. One is not PI but had a feeding tube in place last October and his CF symptoms are worse then the others. Another, we just found out is PI and has the least amount of symptoms right now. My daughter is at risk for bacterial infections more then the others. And my last daughter presents with more asthma symptoms.
<br />
<br />So each one is completely different. I have not found out a whole lot about this paticular mutation and continue to look every so often.
<br />
<br />Hope this helps you,
<br />Tina, mom to 8, 4 with CF
 
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