1st CF Clinic

[asiewny]

Hi all! Just wanted to let you know that my ds had his appt. at the CF clinic yesterday. I didn't know what to expect except that he would have to do more tests, so maybe you can help me out a bit as to what they mean.
First they took him back to do "PFT's" and although he consistently could not blow as long as the test ran and he coughed at the end, his numbers were good-125's. No clue what that means, just that it was good. They also did a chest x-ray, and they are doing the amplified genetic testing with a company called Genzyme. He also had to "hock a loogie" (lol, ds loved this!) into a cup, no problem getting a sample there! He also has to have a stool sample collected, (looking forward to that). She was also looking at his hands and said he had mild clubbing, what the heck is that? His hands look normal to me. She also told me not to go on the internet too much (too late) and that he does not have "classic" CF because he didn't have d1508. Since he has been coughing a lot lately (of course I didn't pay much attention to this before he was questionable for CF) she wrote a RX for proventil inhaler with a spacer. I actually know what this is because I have intermittent asthma. So, we go back to the CF clinic in two months to find out the results. They said that the genetic testing can take anywhere from two weeks to two months to get back, but I will be calling to find out the results because I want to know ASAP. I am more curious to find out if he is pancreatic insuffiecient. Anyone know how long it takes the results to come back on that? We will take it to the lab on Friday because we go back for his brain MRI (yippee). The hospital where the specialty clinic and CF clinic is about an hour and a half away from our home.
Again, I really am glad I found this site. Thank you for your input!

 

[asiewny]

Hi all! Just wanted to let you know that my ds had his appt. at the CF clinic yesterday. I didn't know what to expect except that he would have to do more tests, so maybe you can help me out a bit as to what they mean.
First they took him back to do "PFT's" and although he consistently could not blow as long as the test ran and he coughed at the end, his numbers were good-125's. No clue what that means, just that it was good. They also did a chest x-ray, and they are doing the amplified genetic testing with a company called Genzyme. He also had to "hock a loogie" (lol, ds loved this!) into a cup, no problem getting a sample there! He also has to have a stool sample collected, (looking forward to that). She was also looking at his hands and said he had mild clubbing, what the heck is that? His hands look normal to me. She also told me not to go on the internet too much (too late) and that he does not have "classic" CF because he didn't have d1508. Since he has been coughing a lot lately (of course I didn't pay much attention to this before he was questionable for CF) she wrote a RX for proventil inhaler with a spacer. I actually know what this is because I have intermittent asthma. So, we go back to the CF clinic in two months to find out the results. They said that the genetic testing can take anywhere from two weeks to two months to get back, but I will be calling to find out the results because I want to know ASAP. I am more curious to find out if he is pancreatic insuffiecient. Anyone know how long it takes the results to come back on that? We will take it to the lab on Friday because we go back for his brain MRI (yippee). The hospital where the specialty clinic and CF clinic is about an hour and a half away from our home.
Again, I really am glad I found this site. Thank you for your input!

 

[asiewny]

Hi all! Just wanted to let you know that my ds had his appt. at the CF clinic yesterday. I didn't know what to expect except that he would have to do more tests, so maybe you can help me out a bit as to what they mean.
First they took him back to do "PFT's" and although he consistently could not blow as long as the test ran and he coughed at the end, his numbers were good-125's. No clue what that means, just that it was good. They also did a chest x-ray, and they are doing the amplified genetic testing with a company called Genzyme. He also had to "hock a loogie" (lol, ds loved this!) into a cup, no problem getting a sample there! He also has to have a stool sample collected, (looking forward to that). She was also looking at his hands and said he had mild clubbing, what the heck is that? His hands look normal to me. She also told me not to go on the internet too much (too late) and that he does not have "classic" CF because he didn't have d1508. Since he has been coughing a lot lately (of course I didn't pay much attention to this before he was questionable for CF) she wrote a RX for proventil inhaler with a spacer. I actually know what this is because I have intermittent asthma. So, we go back to the CF clinic in two months to find out the results. They said that the genetic testing can take anywhere from two weeks to two months to get back, but I will be calling to find out the results because I want to know ASAP. I am more curious to find out if he is pancreatic insuffiecient. Anyone know how long it takes the results to come back on that? We will take it to the lab on Friday because we go back for his brain MRI (yippee). The hospital where the specialty clinic and CF clinic is about an hour and a half away from our home.
Again, I really am glad I found this site. Thank you for your input!

 

[asiewny]

Hi all! Just wanted to let you know that my ds had his appt. at the CF clinic yesterday. I didn't know what to expect except that he would have to do more tests, so maybe you can help me out a bit as to what they mean.
First they took him back to do "PFT's" and although he consistently could not blow as long as the test ran and he coughed at the end, his numbers were good-125's. No clue what that means, just that it was good. They also did a chest x-ray, and they are doing the amplified genetic testing with a company called Genzyme. He also had to "hock a loogie" (lol, ds loved this!) into a cup, no problem getting a sample there! He also has to have a stool sample collected, (looking forward to that). She was also looking at his hands and said he had mild clubbing, what the heck is that? His hands look normal to me. She also told me not to go on the internet too much (too late) and that he does not have "classic" CF because he didn't have d1508. Since he has been coughing a lot lately (of course I didn't pay much attention to this before he was questionable for CF) she wrote a RX for proventil inhaler with a spacer. I actually know what this is because I have intermittent asthma. So, we go back to the CF clinic in two months to find out the results. They said that the genetic testing can take anywhere from two weeks to two months to get back, but I will be calling to find out the results because I want to know ASAP. I am more curious to find out if he is pancreatic insuffiecient. Anyone know how long it takes the results to come back on that? We will take it to the lab on Friday because we go back for his brain MRI (yippee). The hospital where the specialty clinic and CF clinic is about an hour and a half away from our home.
Again, I really am glad I found this site. Thank you for your input!

 

[asiewny]

Hi all! Just wanted to let you know that my ds had his appt. at the CF clinic yesterday. I didn't know what to expect except that he would have to do more tests, so maybe you can help me out a bit as to what they mean.
<br />First they took him back to do "PFT's" and although he consistently could not blow as long as the test ran and he coughed at the end, his numbers were good-125's. No clue what that means, just that it was good. They also did a chest x-ray, and they are doing the amplified genetic testing with a company called Genzyme. He also had to "hock a loogie" (lol, ds loved this!) into a cup, no problem getting a sample there! He also has to have a stool sample collected, (looking forward to that). She was also looking at his hands and said he had mild clubbing, what the heck is that? His hands look normal to me. She also told me not to go on the internet too much (too late) and that he does not have "classic" CF because he didn't have d1508. Since he has been coughing a lot lately (of course I didn't pay much attention to this before he was questionable for CF) she wrote a RX for proventil inhaler with a spacer. I actually know what this is because I have intermittent asthma. So, we go back to the CF clinic in two months to find out the results. They said that the genetic testing can take anywhere from two weeks to two months to get back, but I will be calling to find out the results because I want to know ASAP. I am more curious to find out if he is pancreatic insuffiecient. Anyone know how long it takes the results to come back on that? We will take it to the lab on Friday because we go back for his brain MRI (yippee). The hospital where the specialty clinic and CF clinic is about an hour and a half away from our home.
<br />Again, I really am glad I found this site. Thank you for your input!

 

[just1more]

Wow, let me see what I can do:

1) PFT = Pulmonary Function Test, it is a test used to measure how your lungs perform compared to a 'predicted' or expected result. An score of 125 means that his lung performance is 125% of what is expected for him. Obviously good.

2) There are 2 large companies I'm familiar with that do 'amplified' genetic testing for CF. Genzyme is one, Ambry is the other (FYI, Ambry is a sponsor of cf.com). It will take a couple of weeks, and they are looking for the mutation(s) you son has. FYI, there are ~1500 total known mutations.

3) Clubbing means the finger tips are enlarged or clubbed. The best option is to google and look at pictures. Clubbing is a sign of reduced O2 levels, and is pretty common in cystics I think.

4) As for classic CF, DF508 is one of the 'major' mutations, and does lead to a more typical presentation. Once you get the genetic test back you can get a broad idea on how things *might* progress. However, always remember, that 2 people with identical mutations will not have the same issues. As an example, we have members here in their 40's with 2 copies of DF508 and still kicking; while there have been others with this combination that fail to reach adulthood. There are so many variables we still don't understand, take everything you find online and remember that nothing is set in stone.

5) The lab test for pancreatic function is fairly quick, probably a few days, and what they are looking for is the level of fat & nutrients in the stool sample you provide. Normal stools should have very little of both, a PI patient has much of both unless they are on enzymes.

Hope this helps,

 

[just1more]

Wow, let me see what I can do:

1) PFT = Pulmonary Function Test, it is a test used to measure how your lungs perform compared to a 'predicted' or expected result. An score of 125 means that his lung performance is 125% of what is expected for him. Obviously good.

2) There are 2 large companies I'm familiar with that do 'amplified' genetic testing for CF. Genzyme is one, Ambry is the other (FYI, Ambry is a sponsor of cf.com). It will take a couple of weeks, and they are looking for the mutation(s) you son has. FYI, there are ~1500 total known mutations.

3) Clubbing means the finger tips are enlarged or clubbed. The best option is to google and look at pictures. Clubbing is a sign of reduced O2 levels, and is pretty common in cystics I think.

4) As for classic CF, DF508 is one of the 'major' mutations, and does lead to a more typical presentation. Once you get the genetic test back you can get a broad idea on how things *might* progress. However, always remember, that 2 people with identical mutations will not have the same issues. As an example, we have members here in their 40's with 2 copies of DF508 and still kicking; while there have been others with this combination that fail to reach adulthood. There are so many variables we still don't understand, take everything you find online and remember that nothing is set in stone.

5) The lab test for pancreatic function is fairly quick, probably a few days, and what they are looking for is the level of fat & nutrients in the stool sample you provide. Normal stools should have very little of both, a PI patient has much of both unless they are on enzymes.

Hope this helps,

 

[just1more]

Wow, let me see what I can do:

1) PFT = Pulmonary Function Test, it is a test used to measure how your lungs perform compared to a 'predicted' or expected result. An score of 125 means that his lung performance is 125% of what is expected for him. Obviously good.

2) There are 2 large companies I'm familiar with that do 'amplified' genetic testing for CF. Genzyme is one, Ambry is the other (FYI, Ambry is a sponsor of cf.com). It will take a couple of weeks, and they are looking for the mutation(s) you son has. FYI, there are ~1500 total known mutations.

3) Clubbing means the finger tips are enlarged or clubbed. The best option is to google and look at pictures. Clubbing is a sign of reduced O2 levels, and is pretty common in cystics I think.

4) As for classic CF, DF508 is one of the 'major' mutations, and does lead to a more typical presentation. Once you get the genetic test back you can get a broad idea on how things *might* progress. However, always remember, that 2 people with identical mutations will not have the same issues. As an example, we have members here in their 40's with 2 copies of DF508 and still kicking; while there have been others with this combination that fail to reach adulthood. There are so many variables we still don't understand, take everything you find online and remember that nothing is set in stone.

5) The lab test for pancreatic function is fairly quick, probably a few days, and what they are looking for is the level of fat & nutrients in the stool sample you provide. Normal stools should have very little of both, a PI patient has much of both unless they are on enzymes.

Hope this helps,

 

[just1more]

Wow, let me see what I can do:

1) PFT = Pulmonary Function Test, it is a test used to measure how your lungs perform compared to a 'predicted' or expected result. An score of 125 means that his lung performance is 125% of what is expected for him. Obviously good.

2) There are 2 large companies I'm familiar with that do 'amplified' genetic testing for CF. Genzyme is one, Ambry is the other (FYI, Ambry is a sponsor of cf.com). It will take a couple of weeks, and they are looking for the mutation(s) you son has. FYI, there are ~1500 total known mutations.

3) Clubbing means the finger tips are enlarged or clubbed. The best option is to google and look at pictures. Clubbing is a sign of reduced O2 levels, and is pretty common in cystics I think.

4) As for classic CF, DF508 is one of the 'major' mutations, and does lead to a more typical presentation. Once you get the genetic test back you can get a broad idea on how things *might* progress. However, always remember, that 2 people with identical mutations will not have the same issues. As an example, we have members here in their 40's with 2 copies of DF508 and still kicking; while there have been others with this combination that fail to reach adulthood. There are so many variables we still don't understand, take everything you find online and remember that nothing is set in stone.

5) The lab test for pancreatic function is fairly quick, probably a few days, and what they are looking for is the level of fat & nutrients in the stool sample you provide. Normal stools should have very little of both, a PI patient has much of both unless they are on enzymes.

Hope this helps,

 

[just1more]

Wow, let me see what I can do:
<br />
<br />1) PFT = Pulmonary Function Test, it is a test used to measure how your lungs perform compared to a 'predicted' or expected result. An score of 125 means that his lung performance is 125% of what is expected for him. Obviously good.
<br />
<br />2) There are 2 large companies I'm familiar with that do 'amplified' genetic testing for CF. Genzyme is one, Ambry is the other (FYI, Ambry is a sponsor of cf.com). It will take a couple of weeks, and they are looking for the mutation(s) you son has. FYI, there are ~1500 total known mutations.
<br />
<br />3) Clubbing means the finger tips are enlarged or clubbed. The best option is to google and look at pictures. Clubbing is a sign of reduced O2 levels, and is pretty common in cystics I think.
<br />
<br />4) As for classic CF, DF508 is one of the 'major' mutations, and does lead to a more typical presentation. Once you get the genetic test back you can get a broad idea on how things *might* progress. However, always remember, that 2 people with identical mutations will not have the same issues. As an example, we have members here in their 40's with 2 copies of DF508 and still kicking; while there have been others with this combination that fail to reach adulthood. There are so many variables we still don't understand, take everything you find online and remember that nothing is set in stone.
<br />
<br />5) The lab test for pancreatic function is fairly quick, probably a few days, and what they are looking for is the level of fat & nutrients in the stool sample you provide. Normal stools should have very little of both, a PI patient has much of both unless they are on enzymes.
<br />
<br />Hope this helps,