Do you have any scientific evidence for this? As I stated before I have a class I and III and have an extremely mild presentation. The scientists studying epigenetics don't understand all the implications, yet here you are proclaiming something based on guesswork. Any sentence containing "I believe" has no place in a scientific discussion. Find me some evidence and I'll concede, otherwise refrain from wild speculation.
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DF508 question
- Thread starter Nikole
- Start date
Do you have any scientific evidence for this? As I stated before I have a class I and III and have an extremely mild presentation. The scientists studying epigenetics don't understand all the implications, yet here you are proclaiming something based on guesswork. Any sentence containing "I believe" has no place in a scientific discussion. Find me some evidence and I'll concede, otherwise refrain from wild speculation.
musclemania70
New member
The fact that she has had no hospitalizations means nothing in my opinion. I never had a lung infection until I was 17 years old. That was my first hospitalization and I am double delta.
There is only one sweat chloride test for CF that determines if a person has the disease.
And 95% of cf patients who die from the disease die from LUNG disease-no matter what mutation they have.
I would not say that just because she is 5 years old and hasn't been sick means she has mild cf. You should (in my opinion) be treating her the same as all other CF patients as far as prevention and treatments.
It is only within the last 5 years that there have been mutation specific drugs created.
I don't really know what else you are asking. Are you asking, Will she get sick? Will she have lung problems? Ummm...I think you already know the answer to that-you are just afraid because you don't know when it will happen.
There is only one sweat chloride test for CF that determines if a person has the disease.
And 95% of cf patients who die from the disease die from LUNG disease-no matter what mutation they have.
I would not say that just because she is 5 years old and hasn't been sick means she has mild cf. You should (in my opinion) be treating her the same as all other CF patients as far as prevention and treatments.
It is only within the last 5 years that there have been mutation specific drugs created.
I don't really know what else you are asking. Are you asking, Will she get sick? Will she have lung problems? Ummm...I think you already know the answer to that-you are just afraid because you don't know when it will happen.
musclemania70
New member
The fact that she has had no hospitalizations means nothing in my opinion. I never had a lung infection until I was 17 years old. That was my first hospitalization and I am double delta.
There is only one sweat chloride test for CF that determines if a person has the disease.
And 95% of cf patients who die from the disease die from LUNG disease-no matter what mutation they have.
I would not say that just because she is 5 years old and hasn't been sick means she has mild cf. You should (in my opinion) be treating her the same as all other CF patients as far as prevention and treatments.
It is only within the last 5 years that there have been mutation specific drugs created.
I don't really know what else you are asking. Are you asking, Will she get sick? Will she have lung problems? Ummm...I think you already know the answer to that-you are just afraid because you don't know when it will happen.
There is only one sweat chloride test for CF that determines if a person has the disease.
And 95% of cf patients who die from the disease die from LUNG disease-no matter what mutation they have.
I would not say that just because she is 5 years old and hasn't been sick means she has mild cf. You should (in my opinion) be treating her the same as all other CF patients as far as prevention and treatments.
It is only within the last 5 years that there have been mutation specific drugs created.
I don't really know what else you are asking. Are you asking, Will she get sick? Will she have lung problems? Ummm...I think you already know the answer to that-you are just afraid because you don't know when it will happen.
I looked at a few recent articles online and it appears that a direct correlation between genotype and phenotype has not been scientifically established and that variabilty is the highest when it comes to progression of pulmonary disease. This does not mean that a correlation doesn't exist. My daughter has two class 2 mutations and she has pseudo, aspergillus and bronchiectasis. From what I've seen on this website, people with milder expression have at least one class 4 or class 5 mutation. Alot of people with the G551D are in their 30's and appear to be doing well while alot of double deltas are in their twenties with pretty low pulmonary function. Its not scientific proof just merely an observation of the natural world which is the basis of all science. So while I tend to believe that some correlation between genotype and phenotype does exist, I concede that scientific studies completed in the last ten years don't really suggest it.
I looked at a few recent articles online and it appears that a direct correlation between genotype and phenotype has not been scientifically established and that variabilty is the highest when it comes to progression of pulmonary disease. This does not mean that a correlation doesn't exist. My daughter has two class 2 mutations and she has pseudo, aspergillus and bronchiectasis. From what I've seen on this website, people with milder expression have at least one class 4 or class 5 mutation. Alot of people with the G551D are in their 30's and appear to be doing well while alot of double deltas are in their twenties with pretty low pulmonary function. Its not scientific proof just merely an observation of the natural world which is the basis of all science. So while I tend to believe that some correlation between genotype and phenotype does exist, I concede that scientific studies completed in the last ten years don't really suggest it.
E
edan
Guest
Hi Nikole. Wow, this thread is a bit charged! My story goes as follows. My daughter was not diagnosed until 3.5. She is now just over 5. She actually had zero symptoms before diagnosis. I had changed OB/GYNs and she had me tested for various stuff because she knew I was trying to have another baby. CF carrier status came back positive for both my husband and I and so had I my daughter sweat tested just to rule it out. Well, she came back borderline, so I had her tested for the genes and the rest is history. She is fully pancreatic sufficient and had 3 - 4 colds tops prior to diagnosis, all which resolved in a normal time period and none of which went to her lungs. She did, indeed, have runny noses, all without mucolytics. Her genes are df508 and a class V (3849+10kbc->t). I searched down every single 3849+10kbc->t adult I could find. In general, they had milder presentations, were diagnosed mostly as late teens or adults, but they were mostly pancreatic sufficient, and had some mild to major lung involvement prior to diagnosis.
Now I am sure this is going to get a hefty response, but I am curious what others think anyway. I sat in on a donor's dinner with some execs from the CFF and asked a pointed question...."How long do pancreatic sufficient patients live on average". The answer was 1-2 decades longer than those who are not pancreatic sufficient. In addition, although definitely not the rule, I believe that the sweat chloride results do somewhat predict outcome. Otherwise, why would pancreatic sufficiency generally show up under 70? In addition, why is it measured with the Vertex drugs?
Have you had all the usual tests done? I.E. lung xray, sweat test, vitamin levels, etc.? This whole "mild" mutation speak is definitely charged, but usually it does mean something....That said, we do treatments 2x/day, 4x if sick.
Best
Now I am sure this is going to get a hefty response, but I am curious what others think anyway. I sat in on a donor's dinner with some execs from the CFF and asked a pointed question...."How long do pancreatic sufficient patients live on average". The answer was 1-2 decades longer than those who are not pancreatic sufficient. In addition, although definitely not the rule, I believe that the sweat chloride results do somewhat predict outcome. Otherwise, why would pancreatic sufficiency generally show up under 70? In addition, why is it measured with the Vertex drugs?
Have you had all the usual tests done? I.E. lung xray, sweat test, vitamin levels, etc.? This whole "mild" mutation speak is definitely charged, but usually it does mean something....That said, we do treatments 2x/day, 4x if sick.
Best
E
edan
Guest
Hi Nikole. Wow, this thread is a bit charged! My story goes as follows. My daughter was not diagnosed until 3.5. She is now just over 5. She actually had zero symptoms before diagnosis. I had changed OB/GYNs and she had me tested for various stuff because she knew I was trying to have another baby. CF carrier status came back positive for both my husband and I and so had I my daughter sweat tested just to rule it out. Well, she came back borderline, so I had her tested for the genes and the rest is history. She is fully pancreatic sufficient and had 3 - 4 colds tops prior to diagnosis, all which resolved in a normal time period and none of which went to her lungs. She did, indeed, have runny noses, all without mucolytics. Her genes are df508 and a class V (3849+10kbc->t). I searched down every single 3849+10kbc->t adult I could find. In general, they had milder presentations, were diagnosed mostly as late teens or adults, but they were mostly pancreatic sufficient, and had some mild to major lung involvement prior to diagnosis.
Now I am sure this is going to get a hefty response, but I am curious what others think anyway. I sat in on a donor's dinner with some execs from the CFF and asked a pointed question...."How long do pancreatic sufficient patients live on average". The answer was 1-2 decades longer than those who are not pancreatic sufficient. In addition, although definitely not the rule, I believe that the sweat chloride results do somewhat predict outcome. Otherwise, why would pancreatic sufficiency generally show up under 70? In addition, why is it measured with the Vertex drugs?
Have you had all the usual tests done? I.E. lung xray, sweat test, vitamin levels, etc.? This whole "mild" mutation speak is definitely charged, but usually it does mean something....That said, we do treatments 2x/day, 4x if sick.
Best
Now I am sure this is going to get a hefty response, but I am curious what others think anyway. I sat in on a donor's dinner with some execs from the CFF and asked a pointed question...."How long do pancreatic sufficient patients live on average". The answer was 1-2 decades longer than those who are not pancreatic sufficient. In addition, although definitely not the rule, I believe that the sweat chloride results do somewhat predict outcome. Otherwise, why would pancreatic sufficiency generally show up under 70? In addition, why is it measured with the Vertex drugs?
Have you had all the usual tests done? I.E. lung xray, sweat test, vitamin levels, etc.? This whole "mild" mutation speak is definitely charged, but usually it does mean something....That said, we do treatments 2x/day, 4x if sick.
Best
Its measured with the Vertex drugs because they were designed to reduce sweat chloride plain and simple. Having a high sweat chloride level is not an indication of severity with the disease. Its just a strong indication that a person most definitely does have CF. At least thats the way it was explained to me.
Its measured with the Vertex drugs because they were designed to reduce sweat chloride plain and simple. Having a high sweat chloride level is not an indication of severity with the disease. Its just a strong indication that a person most definitely does have CF. At least thats the way it was explained to me.
To answer you musclemania, you must have not read my original post very clearly. You think I don't know she can get sick? I'm fully aware of that!!!!!!!!! I'm simply asking if having a class 5 mutation is a helpful one to have based on severity and comparing it to others who might have class 4 or 5 mutations.I have researched this alot and I always find things saying that these classes are less severe. As far as treatments, I think I answered that very clearly, as I said she does vest therapy twice a day, along with Hyper Sal neb, Pulmozyme, and Ventolin inhaler twice daily. I do her treatments every single day, as if she were sick. I treat her preventatively and do everything the doctors ask of me. She goes to a CF Clinic and she gets sputum cultures every 2-3 months, weight checks, chest xrays, vitamin levels--everything that they want her to do.
I don't treat my child as if she doesn't have the disease, nor do I ever tell myself that she will never get sick. I was simply comparing her class 5 mutation to that of others just to see if they are of less severity as well. I also know that comparing doesn't matter because everyone is different and all CFers react different to their mutations. If you can't get on this site and discuss matters in a simple, friendly manner, then maybe you shouldn't answer at all.
I don't treat my child as if she doesn't have the disease, nor do I ever tell myself that she will never get sick. I was simply comparing her class 5 mutation to that of others just to see if they are of less severity as well. I also know that comparing doesn't matter because everyone is different and all CFers react different to their mutations. If you can't get on this site and discuss matters in a simple, friendly manner, then maybe you shouldn't answer at all.
To answer you musclemania, you must have not read my original post very clearly. You think I don't know she can get sick? I'm fully aware of that!!!!!!!!! I'm simply asking if having a class 5 mutation is a helpful one to have based on severity and comparing it to others who might have class 4 or 5 mutations.I have researched this alot and I always find things saying that these classes are less severe. As far as treatments, I think I answered that very clearly, as I said she does vest therapy twice a day, along with Hyper Sal neb, Pulmozyme, and Ventolin inhaler twice daily. I do her treatments every single day, as if she were sick. I treat her preventatively and do everything the doctors ask of me. She goes to a CF Clinic and she gets sputum cultures every 2-3 months, weight checks, chest xrays, vitamin levels--everything that they want her to do.
I don't treat my child as if she doesn't have the disease, nor do I ever tell myself that she will never get sick. I was simply comparing her class 5 mutation to that of others just to see if they are of less severity as well. I also know that comparing doesn't matter because everyone is different and all CFers react different to their mutations. If you can't get on this site and discuss matters in a simple, friendly manner, then maybe you shouldn't answer at all.
I don't treat my child as if she doesn't have the disease, nor do I ever tell myself that she will never get sick. I was simply comparing her class 5 mutation to that of others just to see if they are of less severity as well. I also know that comparing doesn't matter because everyone is different and all CFers react different to their mutations. If you can't get on this site and discuss matters in a simple, friendly manner, then maybe you shouldn't answer at all.
Nikole, DS has similar issues when he was born and spent 6 weeks in the NICU. We were told people wcf were born with normal lungs; however, with increased infection, progression of the disease, eventually the lungs will be affected.
So we've been doing CPT/Vest treatments 3-4 times a day since DS was a few days old. Most of his symptoms are digestive, though he does have some sinus issues. As a baby/toddler he was probably one of the healthiest kids at his daycare/preschool and this year (2nd grade) was the first time he actually missed school for being sick and that was a stomach bug he got.
IMO, it's important to be proactive with treatments. We had similar concerns when DS started kindergarten as our preschool was VERY good about informing about any illnesses and enforcing their sick policy. Little harder to control in a larger school system; however, we stress to DS proper had washing, we have asked that the school enforce their sick policy as well. With each milestone it's been a bit scary, but DS needs to lead a normal life...
So we've been doing CPT/Vest treatments 3-4 times a day since DS was a few days old. Most of his symptoms are digestive, though he does have some sinus issues. As a baby/toddler he was probably one of the healthiest kids at his daycare/preschool and this year (2nd grade) was the first time he actually missed school for being sick and that was a stomach bug he got.
IMO, it's important to be proactive with treatments. We had similar concerns when DS started kindergarten as our preschool was VERY good about informing about any illnesses and enforcing their sick policy. Little harder to control in a larger school system; however, we stress to DS proper had washing, we have asked that the school enforce their sick policy as well. With each milestone it's been a bit scary, but DS needs to lead a normal life...
Nikole, DS has similar issues when he was born and spent 6 weeks in the NICU. We were told people wcf were born with normal lungs; however, with increased infection, progression of the disease, eventually the lungs will be affected.
So we've been doing CPT/Vest treatments 3-4 times a day since DS was a few days old. Most of his symptoms are digestive, though he does have some sinus issues. As a baby/toddler he was probably one of the healthiest kids at his daycare/preschool and this year (2nd grade) was the first time he actually missed school for being sick and that was a stomach bug he got.
IMO, it's important to be proactive with treatments. We had similar concerns when DS started kindergarten as our preschool was VERY good about informing about any illnesses and enforcing their sick policy. Little harder to control in a larger school system; however, we stress to DS proper had washing, we have asked that the school enforce their sick policy as well. With each milestone it's been a bit scary, but DS needs to lead a normal life...
So we've been doing CPT/Vest treatments 3-4 times a day since DS was a few days old. Most of his symptoms are digestive, though he does have some sinus issues. As a baby/toddler he was probably one of the healthiest kids at his daycare/preschool and this year (2nd grade) was the first time he actually missed school for being sick and that was a stomach bug he got.
IMO, it's important to be proactive with treatments. We had similar concerns when DS started kindergarten as our preschool was VERY good about informing about any illnesses and enforcing their sick policy. Little harder to control in a larger school system; however, we stress to DS proper had washing, we have asked that the school enforce their sick policy as well. With each milestone it's been a bit scary, but DS needs to lead a normal life...
musclemania70
New member
Nikole,
I believe that your child will have a VERY bright and happy future. I think at 5 years old, there are so many companies other than Vertex that are working to correct this problem and that she will benefit. I would be thrilled to know that if I had a daughter, she was born only 5 years ago. This is the time that as a mom, you could tell her she IS going to lead a LONG happy life.
What is dishearteneing is that the people who are in their 20s, 30s, and beyond that must feel very afraid that these medicines will not come soon enough to help them.
My mother never stopped me from doing ANYTHING I wanted to do and she also told me NEVER to listen to people who put a number on your time. You should do the same with your daughter.
I am confident she has a VERY bright future ahead of her- Thanks to the CFF and all the people who have raised money to knock this disease out of the park.
I believe that your child will have a VERY bright and happy future. I think at 5 years old, there are so many companies other than Vertex that are working to correct this problem and that she will benefit. I would be thrilled to know that if I had a daughter, she was born only 5 years ago. This is the time that as a mom, you could tell her she IS going to lead a LONG happy life.
What is dishearteneing is that the people who are in their 20s, 30s, and beyond that must feel very afraid that these medicines will not come soon enough to help them.
My mother never stopped me from doing ANYTHING I wanted to do and she also told me NEVER to listen to people who put a number on your time. You should do the same with your daughter.
I am confident she has a VERY bright future ahead of her- Thanks to the CFF and all the people who have raised money to knock this disease out of the park.
musclemania70
New member
Nikole,
I believe that your child will have a VERY bright and happy future. I think at 5 years old, there are so many companies other than Vertex that are working to correct this problem and that she will benefit. I would be thrilled to know that if I had a daughter, she was born only 5 years ago. This is the time that as a mom, you could tell her she IS going to lead a LONG happy life.
What is dishearteneing is that the people who are in their 20s, 30s, and beyond that must feel very afraid that these medicines will not come soon enough to help them.
My mother never stopped me from doing ANYTHING I wanted to do and she also told me NEVER to listen to people who put a number on your time. You should do the same with your daughter.
I am confident she has a VERY bright future ahead of her- Thanks to the CFF and all the people who have raised money to knock this disease out of the park.
I believe that your child will have a VERY bright and happy future. I think at 5 years old, there are so many companies other than Vertex that are working to correct this problem and that she will benefit. I would be thrilled to know that if I had a daughter, she was born only 5 years ago. This is the time that as a mom, you could tell her she IS going to lead a LONG happy life.
What is dishearteneing is that the people who are in their 20s, 30s, and beyond that must feel very afraid that these medicines will not come soon enough to help them.
My mother never stopped me from doing ANYTHING I wanted to do and she also told me NEVER to listen to people who put a number on your time. You should do the same with your daughter.
I am confident she has a VERY bright future ahead of her- Thanks to the CFF and all the people who have raised money to knock this disease out of the park.
With regard to pancreatic insufficiency vs sufficiency and life expectancy - I think it's fair to say that "one to two decades longer" correlates with better nutrition. Better nutrition = better overall health = greater ability to fight infection = better lung health. I don't think it's fair to say that PI = shorter lifespan, rather, poorer nutrition (i.e., malaborption)= shorter lifespan. With the CFF stressing higher BMI/weight:length %'s, they are clearly seeing a correlation of longevity in relation to nutrition as they study the "older" CF patients (i.e., those that seem more likely - though not guaranteed - to have one/two Class 4, 5 mutations).
With regard to pancreatic insufficiency vs sufficiency and life expectancy - I think it's fair to say that "one to two decades longer" correlates with better nutrition. Better nutrition = better overall health = greater ability to fight infection = better lung health. I don't think it's fair to say that PI = shorter lifespan, rather, poorer nutrition (i.e., malaborption)= shorter lifespan. With the CFF stressing higher BMI/weight:length %'s, they are clearly seeing a correlation of longevity in relation to nutrition as they study the "older" CF patients (i.e., those that seem more likely - though not guaranteed - to have one/two Class 4, 5 mutations).