Still confused!

kaylinsmom · Apr 13, 2010

I am sorry to sound so uninformed about all of this but it is very scary and not real clear to me. I posted questions under another topic but I need more answers. My 7 year old has alot of resp. problems. She has been diagnosed with severe asthma and she has sinus problems. She got her adenoids taken out. She has been on about 6 antibiotics in 3 months for pneumonia and she is always in the yellow with her peak flow. She also has gi problems and the list goes on....as well as hair loss that has just started. Her pulmonologist did 2 sweat test that came back as 30 and 44, so they did a full genetic test and it showed only one gene mutation. We were relieved but she is not doing any better. Her lung just collapsed and she runs fever every night. I dont think it is just asthma. Please can anyone tell me what the likelyhood of her having cf even though they only found 1 gene. It was done at a certified clinic. Thanks so much!! Also, she is underweight and always tired.

kaylinsmom · Apr 13, 2010

I am sorry to sound so uninformed about all of this but it is very scary and not real clear to me. I posted questions under another topic but I need more answers. My 7 year old has alot of resp. problems. She has been diagnosed with severe asthma and she has sinus problems. She got her adenoids taken out. She has been on about 6 antibiotics in 3 months for pneumonia and she is always in the yellow with her peak flow. She also has gi problems and the list goes on....as well as hair loss that has just started. Her pulmonologist did 2 sweat test that came back as 30 and 44, so they did a full genetic test and it showed only one gene mutation. We were relieved but she is not doing any better. Her lung just collapsed and she runs fever every night. I dont think it is just asthma. Please can anyone tell me what the likelyhood of her having cf even though they only found 1 gene. It was done at a certified clinic. Thanks so much!! Also, she is underweight and always tired.

kaylinsmom · Apr 13, 2010

I am sorry to sound so uninformed about all of this but it is very scary and not real clear to me. I posted questions under another topic but I need more answers. My 7 year old has alot of resp. problems. She has been diagnosed with severe asthma and she has sinus problems. She got her adenoids taken out. She has been on about 6 antibiotics in 3 months for pneumonia and she is always in the yellow with her peak flow. She also has gi problems and the list goes on....as well as hair loss that has just started. Her pulmonologist did 2 sweat test that came back as 30 and 44, so they did a full genetic test and it showed only one gene mutation. We were relieved but she is not doing any better. Her lung just collapsed and she runs fever every night. I dont think it is just asthma. Please can anyone tell me what the likelyhood of her having cf even though they only found 1 gene. It was done at a certified clinic. Thanks so much!! Also, she is underweight and always tired.

kaylinsmom · Apr 13, 2010

I am sorry to sound so uninformed about all of this but it is very scary and not real clear to me. I posted questions under another topic but I need more answers. My 7 year old has alot of resp. problems. She has been diagnosed with severe asthma and she has sinus problems. She got her adenoids taken out. She has been on about 6 antibiotics in 3 months for pneumonia and she is always in the yellow with her peak flow. She also has gi problems and the list goes on....as well as hair loss that has just started. Her pulmonologist did 2 sweat test that came back as 30 and 44, so they did a full genetic test and it showed only one gene mutation. We were relieved but she is not doing any better. Her lung just collapsed and she runs fever every night. I dont think it is just asthma. Please can anyone tell me what the likelyhood of her having cf even though they only found 1 gene. It was done at a certified clinic. Thanks so much!! Also, she is underweight and always tired.

kaylinsmom · Apr 13, 2010

I am sorry to sound so uninformed about all of this but it is very scary and not real clear to me. I posted questions under another topic but I need more answers. My 7 year old has alot of resp. problems. She has been diagnosed with severe asthma and she has sinus problems. She got her adenoids taken out. She has been on about 6 antibiotics in 3 months for pneumonia and she is always in the yellow with her peak flow. She also has gi problems and the list goes on....as well as hair loss that has just started. Her pulmonologist did 2 sweat test that came back as 30 and 44, so they did a full genetic test and it showed only one gene mutation. We were relieved but she is not doing any better. Her lung just collapsed and she runs fever every night. I dont think it is just asthma. Please can anyone tell me what the likelyhood of her having cf even though they only found 1 gene. It was done at a certified clinic. Thanks so much!! Also, she is underweight and always tired.

TonyaH · Apr 13, 2010

I think my first question would be what lab performed your daughter's test. There are many labs that can be used for CF genotyping, but he most comprehensive is Ambry in California. They are the only lab who can test for every known CF mutation. My first step would be to make sure the test was sent to Ambry and if not, ask for an Ambry test. While your daughter's one mutation may be a common one, there may be another lesser known mutation that only the Ambry will detect. Good luck to you and your daughter. I hope you find answers very soon.

TonyaH · Apr 13, 2010

I think my first question would be what lab performed your daughter's test. There are many labs that can be used for CF genotyping, but he most comprehensive is Ambry in California. They are the only lab who can test for every known CF mutation. My first step would be to make sure the test was sent to Ambry and if not, ask for an Ambry test. While your daughter's one mutation may be a common one, there may be another lesser known mutation that only the Ambry will detect. Good luck to you and your daughter. I hope you find answers very soon.

TonyaH · Apr 13, 2010

I think my first question would be what lab performed your daughter's test. There are many labs that can be used for CF genotyping, but he most comprehensive is Ambry in California. They are the only lab who can test for every known CF mutation. My first step would be to make sure the test was sent to Ambry and if not, ask for an Ambry test. While your daughter's one mutation may be a common one, there may be another lesser known mutation that only the Ambry will detect. Good luck to you and your daughter. I hope you find answers very soon.

TonyaH · Apr 13, 2010

I think my first question would be what lab performed your daughter's test. There are many labs that can be used for CF genotyping, but he most comprehensive is Ambry in California. They are the only lab who can test for every known CF mutation. My first step would be to make sure the test was sent to Ambry and if not, ask for an Ambry test. While your daughter's one mutation may be a common one, there may be another lesser known mutation that only the Ambry will detect. Good luck to you and your daughter. I hope you find answers very soon.

TonyaH · Apr 13, 2010

I think my first question would be what lab performed your daughter's test. There are many labs that can be used for CF genotyping, but he most comprehensive is Ambry in California. They are the only lab who can test for every known CF mutation. My first step would be to make sure the test was sent to Ambry and if not, ask for an Ambry test. While your daughter's one mutation may be a common one, there may be another lesser known mutation that only the Ambry will detect. Good luck to you and your daughter. I hope you find answers very soon.

kaylinsmom · Apr 13, 2010