Thank you all for your input. We have met with CF doctors, genetics doctors, etc, etc. The CF doctors in combination with the genetics doctors have done studies on these two mutations. F508C is a mutation that is a benign varient, meanings it does not cause the clinical disease when combined with another mutation. The only risk we will face is possible infertility. I have also studied up on my own as well. There are so many unknowns about this disease that it can be confusing. Thanks again for your thoughts.
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A little hope
- Thread starter ADawn00
- Start date
Thank you all for your input. We have met with CF doctors, genetics doctors, etc, etc. The CF doctors in combination with the genetics doctors have done studies on these two mutations. F508C is a mutation that is a benign varient, meanings it does not cause the clinical disease when combined with another mutation. The only risk we will face is possible infertility. I have also studied up on my own as well. There are so many unknowns about this disease that it can be confusing. Thanks again for your thoughts.
Thank you all for your input. We have met with CF doctors, genetics doctors, etc, etc. The CF doctors in combination with the genetics doctors have done studies on these two mutations. F508C is a mutation that is a benign varient, meanings it does not cause the clinical disease when combined with another mutation. The only risk we will face is possible infertility. I have also studied up on my own as well. There are so many unknowns about this disease that it can be confusing. Thanks again for your thoughts.
Thank you all for your input. We have met with CF doctors, genetics doctors, etc, etc. The CF doctors in combination with the genetics doctors have done studies on these two mutations. F508C is a mutation that is a benign varient, meanings it does not cause the clinical disease when combined with another mutation. The only risk we will face is possible infertility. I have also studied up on my own as well. There are so many unknowns about this disease that it can be confusing. Thanks again for your thoughts.
Thank you all for your input. We have met with CF doctors, genetics doctors, etc, etc. The CF doctors in combination with the genetics doctors have done studies on these two mutations. F508C is a mutation that is a benign varient, meanings it does not cause the clinical disease when combined with another mutation. The only risk we will face is possible infertility. I have also studied up on my own as well. There are so many unknowns about this disease that it can be confusing. Thanks again for your thoughts.
Having a son whose genetic testing came back with two benign mutations and whose sweat test was inconclusive, this thread is very interesting to me. Plus, he does have enough symptoms that i was surprised (and relieved) at his results. Based on everything here, I feel a second opinion would be helpful. We live in Central PA and have been using the CF Center at the Children's Hospital of Phil. Any recommendations on a second opinion facility? I was thinking Children's in Pittsburgh but we are actually closed to the DC metro area.
Having a son whose genetic testing came back with two benign mutations and whose sweat test was inconclusive, this thread is very interesting to me. Plus, he does have enough symptoms that i was surprised (and relieved) at his results. Based on everything here, I feel a second opinion would be helpful. We live in Central PA and have been using the CF Center at the Children's Hospital of Phil. Any recommendations on a second opinion facility? I was thinking Children's in Pittsburgh but we are actually closed to the DC metro area.
Having a son whose genetic testing came back with two benign mutations and whose sweat test was inconclusive, this thread is very interesting to me. Plus, he does have enough symptoms that i was surprised (and relieved) at his results. Based on everything here, I feel a second opinion would be helpful. We live in Central PA and have been using the CF Center at the Children's Hospital of Phil. Any recommendations on a second opinion facility? I was thinking Children's in Pittsburgh but we are actually closed to the DC metro area.
Having a son whose genetic testing came back with two benign mutations and whose sweat test was inconclusive, this thread is very interesting to me. Plus, he does have enough symptoms that i was surprised (and relieved) at his results. Based on everything here, I feel a second opinion would be helpful. We live in Central PA and have been using the CF Center at the Children's Hospital of Phil. Any recommendations on a second opinion facility? I was thinking Children's in Pittsburgh but we are actually closed to the DC metro area.
Having a son whose genetic testing came back with two benign mutations and whose sweat test was inconclusive, this thread is very interesting to me. Plus, he does have enough symptoms that i was surprised (and relieved) at his results. Based on everything here, I feel a second opinion would be helpful. We live in Central PA and have been using the CF Center at the Children's Hospital of Phil. Any recommendations on a second opinion facility? I was thinking Children's in Pittsburgh but we are actually closed to the DC metro area.
mom2caseyafrica
New member
My daughter, who is 10 weeks old also has the delf508 and f508C mutations. I knew about CF before she was born so I looked for signs from day one. I thought she was a normal healthy baby. However, she was not gaining enough weight, and once she was put on enzymes she started gaining weight fast. Her doctor said she is asymptomatic, but I have noticed little things that prove to me that she does have CF. Perhaps some people with these particular mutations show no symptoms of the disease, but then there are some that do. I hope and wish that my daughter will stay asymptomatic, but I know with this disease that anything can happen and Im not going to take the chance of letting this disease take over while I deny that its real.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
mom2caseyafrica
New member
My daughter, who is 10 weeks old also has the delf508 and f508C mutations. I knew about CF before she was born so I looked for signs from day one. I thought she was a normal healthy baby. However, she was not gaining enough weight, and once she was put on enzymes she started gaining weight fast. Her doctor said she is asymptomatic, but I have noticed little things that prove to me that she does have CF. Perhaps some people with these particular mutations show no symptoms of the disease, but then there are some that do. I hope and wish that my daughter will stay asymptomatic, but I know with this disease that anything can happen and Im not going to take the chance of letting this disease take over while I deny that its real.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
mom2caseyafrica
New member
My daughter, who is 10 weeks old also has the delf508 and f508C mutations. I knew about CF before she was born so I looked for signs from day one. I thought she was a normal healthy baby. However, she was not gaining enough weight, and once she was put on enzymes she started gaining weight fast. Her doctor said she is asymptomatic, but I have noticed little things that prove to me that she does have CF. Perhaps some people with these particular mutations show no symptoms of the disease, but then there are some that do. I hope and wish that my daughter will stay asymptomatic, but I know with this disease that anything can happen and Im not going to take the chance of letting this disease take over while I deny that its real.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
mom2caseyafrica
New member
My daughter, who is 10 weeks old also has the delf508 and f508C mutations. I knew about CF before she was born so I looked for signs from day one. I thought she was a normal healthy baby. However, she was not gaining enough weight, and once she was put on enzymes she started gaining weight fast. Her doctor said she is asymptomatic, but I have noticed little things that prove to me that she does have CF. Perhaps some people with these particular mutations show no symptoms of the disease, but then there are some that do. I hope and wish that my daughter will stay asymptomatic, but I know with this disease that anything can happen and Im not going to take the chance of letting this disease take over while I deny that its real.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
mom2caseyafrica
New member
My daughter, who is 10 weeks old also has the delf508 and f508C mutations. I knew about CF before she was born so I looked for signs from day one. I thought she was a normal healthy baby. However, she was not gaining enough weight, and once she was put on enzymes she started gaining weight fast. Her doctor said she is asymptomatic, but I have noticed little things that prove to me that she does have CF. Perhaps some people with these particular mutations show no symptoms of the disease, but then there are some that do. I hope and wish that my daughter will stay asymptomatic, but I know with this disease that anything can happen and Im not going to take the chance of letting this disease take over while I deny that its real.
<br />I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
<br />If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
<br />I really do hope that your son does not show any signs of CF. But I wouldnt be so quick to settle if I were you.
<br />If you wouldnt mind could you show me some of the research you have found that proves the f508c mutation coupled with the delf508 causes the patient to not have CF? I am very curious to learn more about these specific mutaions.
Mom to Caseyafrica: you will find a lot of references online referring to f508c as a 'benign' mutation [associated with cbavd] if you google it. However, the link I posted above is an addendum to such articles that has been published more than once... and mentions a doctor/hospital who HAS had patients with this very same combination of mutations who did in fact have classic disease. This addendum is published in the very same journals that contained the articles stating the mutation is benign. It was obviously very important to those who actually treated the patients <i>affected by classic symptoms</i> with this mutation combination that the misconception that it was always benign be corrected.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
Mom to Caseyafrica: you will find a lot of references online referring to f508c as a 'benign' mutation [associated with cbavd] if you google it. However, the link I posted above is an addendum to such articles that has been published more than once... and mentions a doctor/hospital who HAS had patients with this very same combination of mutations who did in fact have classic disease. This addendum is published in the very same journals that contained the articles stating the mutation is benign. It was obviously very important to those who actually treated the patients <i>affected by classic symptoms</i> with this mutation combination that the misconception that it was always benign be corrected.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
Mom to Caseyafrica: you will find a lot of references online referring to f508c as a 'benign' mutation [associated with cbavd] if you google it. However, the link I posted above is an addendum to such articles that has been published more than once... and mentions a doctor/hospital who HAS had patients with this very same combination of mutations who did in fact have classic disease. This addendum is published in the very same journals that contained the articles stating the mutation is benign. It was obviously very important to those who actually treated the patients <i>affected by classic symptoms</i> with this mutation combination that the misconception that it was always benign be corrected.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
Mom to Caseyafrica: you will find a lot of references online referring to f508c as a 'benign' mutation [associated with cbavd] if you google it. However, the link I posted above is an addendum to such articles that has been published more than once... and mentions a doctor/hospital who HAS had patients with this very same combination of mutations who did in fact have classic disease. This addendum is published in the very same journals that contained the articles stating the mutation is benign. It was obviously very important to those who actually treated the patients <i>affected by classic symptoms</i> with this mutation combination that the misconception that it was always benign be corrected.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
Mom to Caseyafrica: you will find a lot of references online referring to f508c as a 'benign' mutation [associated with cbavd] if you google it. However, the link I posted above is an addendum to such articles that has been published more than once... and mentions a doctor/hospital who HAS had patients with this very same combination of mutations who did in fact have classic disease. This addendum is published in the very same journals that contained the articles stating the mutation is benign. It was obviously very important to those who actually treated the patients <i>affected by classic symptoms</i> with this mutation combination that the misconception that it was always benign be corrected.
<br />
<br />It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
<br />
<br />Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.
<br />
<br />It would appear that your child has some symptoms as well, so it's important, as you say, to never take that chance. The fact that she is responding to enzymes is not to be overlooked: go with your gut on this one. I am SO glad that even though her drs believe she is 'asymptomatic' they are being watchful enough to put her on enzymes due to her failing to gain weight and that she is benefiting from this. I hope they will treat other symptoms sufficiently in future as well.
<br />
<br />Even if people with a certain variant or mutation are 'usually' asymptomatic or whatever, things should never be blindly written off. A life hangs in the balance in even one 'rare' case. I will say again, it appears obvious that this mutation doesn't often seem associated with disease... but there are published exceptions.