help confused about my sons possible cf

V

valigirl21

Guest
I have to agree with Alyssa. My son presented much the same way, only he had a "cold" from bout 3mths old til he was hospitalized @ 7 mths for breathing problems. He hasn't had a flare-up in 4 1/2 years. However he does have low weight and is short. He didn't have the typical (as if anything in cf is) gresy, smelly stool or anything, nothing to lead us to cf. It turns out his pancreas and digestional tract are most affected and the pancreatic enzimes are making a big difference. I hope you all the best, and hang in there. The not knowing is the hardest part I think.
 
V

valigirl21

Guest
I have to agree with Alyssa. My son presented much the same way, only he had a "cold" from bout 3mths old til he was hospitalized @ 7 mths for breathing problems. He hasn't had a flare-up in 4 1/2 years. However he does have low weight and is short. He didn't have the typical (as if anything in cf is) gresy, smelly stool or anything, nothing to lead us to cf. It turns out his pancreas and digestional tract are most affected and the pancreatic enzimes are making a big difference. I hope you all the best, and hang in there. The not knowing is the hardest part I think.
 
V

valigirl21

Guest
I have to agree with Alyssa. My son presented much the same way, only he had a "cold" from bout 3mths old til he was hospitalized @ 7 mths for breathing problems. He hasn't had a flare-up in 4 1/2 years. However he does have low weight and is short. He didn't have the typical (as if anything in cf is) gresy, smelly stool or anything, nothing to lead us to cf. It turns out his pancreas and digestional tract are most affected and the pancreatic enzimes are making a big difference. I hope you all the best, and hang in there. The not knowing is the hardest part I think.
 
V

valigirl21

Guest
I have to agree with Alyssa. My son presented much the same way, only he had a "cold" from bout 3mths old til he was hospitalized @ 7 mths for breathing problems. He hasn't had a flare-up in 4 1/2 years. However he does have low weight and is short. He didn't have the typical (as if anything in cf is) gresy, smelly stool or anything, nothing to lead us to cf. It turns out his pancreas and digestional tract are most affected and the pancreatic enzimes are making a big difference. I hope you all the best, and hang in there. The not knowing is the hardest part I think.
 
V

valigirl21

Guest
I have to agree with Alyssa. My son presented much the same way, only he had a "cold" from bout 3mths old til he was hospitalized @ 7 mths for breathing problems. He hasn't had a flare-up in 4 1/2 years. However he does have low weight and is short. He didn't have the typical (as if anything in cf is) gresy, smelly stool or anything, nothing to lead us to cf. It turns out his pancreas and digestional tract are most affected and the pancreatic enzimes are making a big difference. I hope you all the best, and hang in there. The not knowing is the hardest part I think.
 
A

Alyssa

New member
<b>vmccomas</b>
The genetic testing is just a simple blood draw - the hard part is the waiting (it's usually 6 weeks or so) and getting a full genetic test ordered - the most expensive one is the one you want ... which can range somewhere around $2000 give or take another $1000 or so, if I remember correctly.

<b>badjaw</b>

Please read my blog for more details about my kids. But yes, in a nut shell they are VERY healthy. They are pancreatic sufficient (so they don't have any digestive/absorption issues). Yes, they participate in sports, yes we expect our daughter to have children, but no we do not expect our son to (but we don't have the proof there yet because he doesn't care to get tested) but the information out there about the two genes he has makes it sound pretty likely that he does not have the vas deferins.

About wanting to know your child's mutations so you cant tell the outcome of the disease.... yes we all agree that it is helpful to learn the genetic for several reason, but do not hang your hat on any of it for sure, because so much goes into it besides genes only.... you just never know. But yes, generally speaking if one of the genes is a class 4 or 5 that usually means a more mild presentation. But the thing with CF is you just have to take things as they come.... even people with the "mild" cases still can end up in trouble in a hurry, so even if you never get confirmation of his genes, you will be in the same boat as the rest of us.... just getting through one day at a time, trying to remain as healthy as possible for as long as possible. The important thing to remember is getting the proper care and being followed by qualified CF physicians -- you are getting that and it is worth your weight in gold!

Regarding your question about other companies that might be in California -- others may know this but I still think posting on the family section to the Ambry post would be your best bet -- ask Steven if he can find your son's test (if they have it he can tell you what was ordered) or if he can tell you who else besides Ambry might be in California.

<b>I would be happy to share with you any more information about my kids</b>, feel free to send a private message through this site and we can talk more about that if you have more questions.
 
A

Alyssa

New member
<b>vmccomas</b>
The genetic testing is just a simple blood draw - the hard part is the waiting (it's usually 6 weeks or so) and getting a full genetic test ordered - the most expensive one is the one you want ... which can range somewhere around $2000 give or take another $1000 or so, if I remember correctly.

<b>badjaw</b>

Please read my blog for more details about my kids. But yes, in a nut shell they are VERY healthy. They are pancreatic sufficient (so they don't have any digestive/absorption issues). Yes, they participate in sports, yes we expect our daughter to have children, but no we do not expect our son to (but we don't have the proof there yet because he doesn't care to get tested) but the information out there about the two genes he has makes it sound pretty likely that he does not have the vas deferins.

About wanting to know your child's mutations so you cant tell the outcome of the disease.... yes we all agree that it is helpful to learn the genetic for several reason, but do not hang your hat on any of it for sure, because so much goes into it besides genes only.... you just never know. But yes, generally speaking if one of the genes is a class 4 or 5 that usually means a more mild presentation. But the thing with CF is you just have to take things as they come.... even people with the "mild" cases still can end up in trouble in a hurry, so even if you never get confirmation of his genes, you will be in the same boat as the rest of us.... just getting through one day at a time, trying to remain as healthy as possible for as long as possible. The important thing to remember is getting the proper care and being followed by qualified CF physicians -- you are getting that and it is worth your weight in gold!

Regarding your question about other companies that might be in California -- others may know this but I still think posting on the family section to the Ambry post would be your best bet -- ask Steven if he can find your son's test (if they have it he can tell you what was ordered) or if he can tell you who else besides Ambry might be in California.

<b>I would be happy to share with you any more information about my kids</b>, feel free to send a private message through this site and we can talk more about that if you have more questions.
 
A

Alyssa

New member
<b>vmccomas</b>
The genetic testing is just a simple blood draw - the hard part is the waiting (it's usually 6 weeks or so) and getting a full genetic test ordered - the most expensive one is the one you want ... which can range somewhere around $2000 give or take another $1000 or so, if I remember correctly.

<b>badjaw</b>

Please read my blog for more details about my kids. But yes, in a nut shell they are VERY healthy. They are pancreatic sufficient (so they don't have any digestive/absorption issues). Yes, they participate in sports, yes we expect our daughter to have children, but no we do not expect our son to (but we don't have the proof there yet because he doesn't care to get tested) but the information out there about the two genes he has makes it sound pretty likely that he does not have the vas deferins.

About wanting to know your child's mutations so you cant tell the outcome of the disease.... yes we all agree that it is helpful to learn the genetic for several reason, but do not hang your hat on any of it for sure, because so much goes into it besides genes only.... you just never know. But yes, generally speaking if one of the genes is a class 4 or 5 that usually means a more mild presentation. But the thing with CF is you just have to take things as they come.... even people with the "mild" cases still can end up in trouble in a hurry, so even if you never get confirmation of his genes, you will be in the same boat as the rest of us.... just getting through one day at a time, trying to remain as healthy as possible for as long as possible. The important thing to remember is getting the proper care and being followed by qualified CF physicians -- you are getting that and it is worth your weight in gold!

Regarding your question about other companies that might be in California -- others may know this but I still think posting on the family section to the Ambry post would be your best bet -- ask Steven if he can find your son's test (if they have it he can tell you what was ordered) or if he can tell you who else besides Ambry might be in California.

<b>I would be happy to share with you any more information about my kids</b>, feel free to send a private message through this site and we can talk more about that if you have more questions.
 
A

Alyssa

New member
<b>vmccomas</b>
The genetic testing is just a simple blood draw - the hard part is the waiting (it's usually 6 weeks or so) and getting a full genetic test ordered - the most expensive one is the one you want ... which can range somewhere around $2000 give or take another $1000 or so, if I remember correctly.

<b>badjaw</b>

Please read my blog for more details about my kids. But yes, in a nut shell they are VERY healthy. They are pancreatic sufficient (so they don't have any digestive/absorption issues). Yes, they participate in sports, yes we expect our daughter to have children, but no we do not expect our son to (but we don't have the proof there yet because he doesn't care to get tested) but the information out there about the two genes he has makes it sound pretty likely that he does not have the vas deferins.

About wanting to know your child's mutations so you cant tell the outcome of the disease.... yes we all agree that it is helpful to learn the genetic for several reason, but do not hang your hat on any of it for sure, because so much goes into it besides genes only.... you just never know. But yes, generally speaking if one of the genes is a class 4 or 5 that usually means a more mild presentation. But the thing with CF is you just have to take things as they come.... even people with the "mild" cases still can end up in trouble in a hurry, so even if you never get confirmation of his genes, you will be in the same boat as the rest of us.... just getting through one day at a time, trying to remain as healthy as possible for as long as possible. The important thing to remember is getting the proper care and being followed by qualified CF physicians -- you are getting that and it is worth your weight in gold!

Regarding your question about other companies that might be in California -- others may know this but I still think posting on the family section to the Ambry post would be your best bet -- ask Steven if he can find your son's test (if they have it he can tell you what was ordered) or if he can tell you who else besides Ambry might be in California.

<b>I would be happy to share with you any more information about my kids</b>, feel free to send a private message through this site and we can talk more about that if you have more questions.
 
A

Alyssa

New member
<b>vmccomas</b>
The genetic testing is just a simple blood draw - the hard part is the waiting (it's usually 6 weeks or so) and getting a full genetic test ordered - the most expensive one is the one you want ... which can range somewhere around $2000 give or take another $1000 or so, if I remember correctly.

<b>badjaw</b>

Please read my blog for more details about my kids. But yes, in a nut shell they are VERY healthy. They are pancreatic sufficient (so they don't have any digestive/absorption issues). Yes, they participate in sports, yes we expect our daughter to have children, but no we do not expect our son to (but we don't have the proof there yet because he doesn't care to get tested) but the information out there about the two genes he has makes it sound pretty likely that he does not have the vas deferins.

About wanting to know your child's mutations so you cant tell the outcome of the disease.... yes we all agree that it is helpful to learn the genetic for several reason, but do not hang your hat on any of it for sure, because so much goes into it besides genes only.... you just never know. But yes, generally speaking if one of the genes is a class 4 or 5 that usually means a more mild presentation. But the thing with CF is you just have to take things as they come.... even people with the "mild" cases still can end up in trouble in a hurry, so even if you never get confirmation of his genes, you will be in the same boat as the rest of us.... just getting through one day at a time, trying to remain as healthy as possible for as long as possible. The important thing to remember is getting the proper care and being followed by qualified CF physicians -- you are getting that and it is worth your weight in gold!

Regarding your question about other companies that might be in California -- others may know this but I still think posting on the family section to the Ambry post would be your best bet -- ask Steven if he can find your son's test (if they have it he can tell you what was ordered) or if he can tell you who else besides Ambry might be in California.

<b>I would be happy to share with you any more information about my kids</b>, feel free to send a private message through this site and we can talk more about that if you have more questions.
 
H

hopesiris

Guest
Just to let you know, there are quite a few adult diagnosed mild CFers on this site in the Adults and Pregnancy forums if you'd like to get a feel for what to expect with mild/atypical CF. We tend to have lower sweat tests (mine was 36) and slow progression/adult onset of CF symptoms.
 
H

hopesiris

Guest
Just to let you know, there are quite a few adult diagnosed mild CFers on this site in the Adults and Pregnancy forums if you'd like to get a feel for what to expect with mild/atypical CF. We tend to have lower sweat tests (mine was 36) and slow progression/adult onset of CF symptoms.
 
H

hopesiris

Guest
Just to let you know, there are quite a few adult diagnosed mild CFers on this site in the Adults and Pregnancy forums if you'd like to get a feel for what to expect with mild/atypical CF. We tend to have lower sweat tests (mine was 36) and slow progression/adult onset of CF symptoms.
 
H

hopesiris

Guest
Just to let you know, there are quite a few adult diagnosed mild CFers on this site in the Adults and Pregnancy forums if you'd like to get a feel for what to expect with mild/atypical CF. We tend to have lower sweat tests (mine was 36) and slow progression/adult onset of CF symptoms.
 
H

hopesiris

Guest
Just to let you know, there are quite a few adult diagnosed mild CFers on this site in the Adults and Pregnancy forums if you'd like to get a feel for what to expect with mild/atypical CF. We tend to have lower sweat tests (mine was 36) and slow progression/adult onset of CF symptoms.
 
V

valigirl21

Guest
Is it possible to have a borderline sweat test and still not have cf? Or is it more likely that my son has an undiscovered (?) or rare genetic mutation that even the full panel will not pick up?
 
V

valigirl21

Guest
Is it possible to have a borderline sweat test and still not have cf? Or is it more likely that my son has an undiscovered (?) or rare genetic mutation that even the full panel will not pick up?
 
V

valigirl21

Guest
Is it possible to have a borderline sweat test and still not have cf? Or is it more likely that my son has an undiscovered (?) or rare genetic mutation that even the full panel will not pick up?
 
V

valigirl21

Guest
Is it possible to have a borderline sweat test and still not have cf? Or is it more likely that my son has an undiscovered (?) or rare genetic mutation that even the full panel will not pick up?
 
V

valigirl21

Guest
Is it possible to have a borderline sweat test and still not have cf? Or is it more likely that my son has an undiscovered (?) or rare genetic mutation that even the full panel will not pick up?
 
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