8 yr old son with missing vas deferens

[brent]

<P>Hi, I'm brand new to this site. I'm wondering if anyone can help me understand what's going on?</P>
<P></P>
<P>My son had unrelated surgery on his abdomen last week (which went very well) and the surgeon told us that she couldn't find a vas deferens and that this means he has probably got CF. They took some blood for testing but that won't come back until after Christmas, and then presumably we have to seea specialist which could be in March for all I know...</P>
<P></P>
<P>CF explains a lot about my little boy's health. He's quite tall for his age (just turned 8)(then again I'm 6'9" so maybe he's actuallyshort) but he's had terrible trouble putting on weight. They gave him a tonsilectomy this year in part to help him gain weight, which has helped a bit but he's still a real skinny kid. He's in the top 5% for height and the bottom 5% for weight.</P>
<UL>
<LI>
<DIV></DIV></LI>
<LI>
<DIV>He's had a lot of trouble with winter chest infections and asthma - this year he spent a week in hospital with a chest infection (yes,that's 3 separate hospital visits in one yearfor the same 7 yr old boy), and he's had I think 13 trips to the clinic in the last 18 months with chest infections.</DIV></LI>
<LI>
<DIV></DIV></LI>
<LI>
<DIV>He has trouble with his bowels - he's 8 years old nowand still comes home from school pretty regularly with poo in his pants.</DIV></LI></UL>
<P></P>
<P>So anyway, I can't wait until next year to find out what's going on. I've been googling and reading almost constantly for the last 5 days.Can anyone actually tell me what arethe chances of therebeing agroup of people who have CBAVD, breathing problems, difficulty gaining weight and are NOT cystic fibrosis sufferers?</P>

 

[brent]

<P>Hi, I'm brand new to this site. I'm wondering if anyone can help me understand what's going on?</P>
<P></P>
<P>My son had unrelated surgery on his abdomen last week (which went very well) and the surgeon told us that she couldn't find a vas deferens and that this means he has probably got CF. They took some blood for testing but that won't come back until after Christmas, and then presumably we have to seea specialist which could be in March for all I know...</P>
<P></P>
<P>CF explains a lot about my little boy's health. He's quite tall for his age (just turned 8)(then again I'm 6'9" so maybe he's actuallyshort) but he's had terrible trouble putting on weight. They gave him a tonsilectomy this year in part to help him gain weight, which has helped a bit but he's still a real skinny kid. He's in the top 5% for height and the bottom 5% for weight.</P>
<UL>
<LI>
<DIV></DIV></LI>
<LI>
<DIV>He's had a lot of trouble with winter chest infections and asthma - this year he spent a week in hospital with a chest infection (yes,that's 3 separate hospital visits in one yearfor the same 7 yr old boy), and he's had I think 13 trips to the clinic in the last 18 months with chest infections.</DIV></LI>
<LI>
<DIV></DIV></LI>
<LI>
<DIV>He has trouble with his bowels - he's 8 years old nowand still comes home from school pretty regularly with poo in his pants.</DIV></LI></UL>
<P></P>
<P>So anyway, I can't wait until next year to find out what's going on. I've been googling and reading almost constantly for the last 5 days.Can anyone actually tell me what arethe chances of therebeing agroup of people who have CBAVD, breathing problems, difficulty gaining weight and are NOT cystic fibrosis sufferers?</P>

 

[brent]

<P>Hi, I'm brand new to this site. I'm wondering if anyone can help me understand what's going on?</P>
<P></P>
<P>My son had unrelated surgery on his abdomen last week (which went very well) and the surgeon told us that she couldn't find a vas deferens and that this means he has probably got CF. They took some blood for testing but that won't come back until after Christmas, and then presumably we have to seea specialist which could be in March for all I know...</P>
<P></P>
<P>CF explains a lot about my little boy's health. He's quite tall for his age (just turned 8)(then again I'm 6'9" so maybe he's actuallyshort) but he's had terrible trouble putting on weight. They gave him a tonsilectomy this year in part to help him gain weight, which has helped a bit but he's still a real skinny kid. He's in the top 5% for height and the bottom 5% for weight.</P>
<UL>
<LI>
<DIV></DIV></LI>
<LI>
<DIV>He's had a lot of trouble with winter chest infections and asthma - this year he spent a week in hospital with a chest infection (yes,that's 3 separate hospital visits in one yearfor the same 7 yr old boy), and he's had I think 13 trips to the clinic in the last 18 months with chest infections.</DIV></LI>
<LI>
<DIV></DIV></LI>
<LI>
<DIV>He has trouble with his bowels - he's 8 years old nowand still comes home from school pretty regularly with poo in his pants.</DIV></LI></UL>
<P></P>
<P>So anyway, I can't wait until next year to find out what's going on. I've been googling and reading almost constantly for the last 5 days.Can anyone actually tell me what arethe chances of therebeing agroup of people who have CBAVD, breathing problems, difficulty gaining weight and are NOT cystic fibrosis sufferers?</P>

 

[AleksandraKaczynska]

this a though one...
chances are that your boy may have cf and may not...Sometimes being a carrier of cf gene give some effects - but not always. Also asthma is many times diganosed incorrectly and is in truth cf..
Also CBAVD is a signal that you should do cf testing since almost 99% (I think - cf males have this problem). If it is cf you will get better and more aimed at the real problem help and medicaments. If it's not - you'll be happy to know it's not for certain.

Some cf mutations are mild and not all cf patient are pancreatin insufficient. My daughter is pancreatin sufficient, is tall, not skinny - just about right - but she eats more and was dignosed through screening test at birth so she had all the right vitamins and HTS inhaltions and cpt since 2 months old. If you saw her you'ld never say she has cf.

If you want more information faster I think you should contact your nearest cf clinic and talk to them if they would do sweat test or other test - this way you can get some answeres faster.
Sweat test for an 8 year old is no problem.
I have no idea about U.S. clinics and how it works but here you need a perscription from a pedatrian to go to a cf clinic.

Best is to do gene testing - but this takes time - esspecially if your son has untipical mutations - if any at all.
Sorry you will be having a bad Christmas esspecially if you don't get any answeres before that time ... we got Asia cf diagnosis two days before christmas - her first.
Wish all the luck

 

[AleksandraKaczynska]

this a though one...
chances are that your boy may have cf and may not...Sometimes being a carrier of cf gene give some effects - but not always. Also asthma is many times diganosed incorrectly and is in truth cf..
Also CBAVD is a signal that you should do cf testing since almost 99% (I think - cf males have this problem). If it is cf you will get better and more aimed at the real problem help and medicaments. If it's not - you'll be happy to know it's not for certain.

Some cf mutations are mild and not all cf patient are pancreatin insufficient. My daughter is pancreatin sufficient, is tall, not skinny - just about right - but she eats more and was dignosed through screening test at birth so she had all the right vitamins and HTS inhaltions and cpt since 2 months old. If you saw her you'ld never say she has cf.

If you want more information faster I think you should contact your nearest cf clinic and talk to them if they would do sweat test or other test - this way you can get some answeres faster.
Sweat test for an 8 year old is no problem.
I have no idea about U.S. clinics and how it works but here you need a perscription from a pedatrian to go to a cf clinic.

Best is to do gene testing - but this takes time - esspecially if your son has untipical mutations - if any at all.
Sorry you will be having a bad Christmas esspecially if you don't get any answeres before that time ... we got Asia cf diagnosis two days before christmas - her first.
Wish all the luck

 

[AleksandraKaczynska]

this a though one...
chances are that your boy may have cf and may not...Sometimes being a carrier of cf gene give some effects - but not always. Also asthma is many times diganosed incorrectly and is in truth cf..
Also CBAVD is a signal that you should do cf testing since almost 99% (I think - cf males have this problem). If it is cf you will get better and more aimed at the real problem help and medicaments. If it's not - you'll be happy to know it's not for certain.

Some cf mutations are mild and not all cf patient are pancreatin insufficient. My daughter is pancreatin sufficient, is tall, not skinny - just about right - but she eats more and was dignosed through screening test at birth so she had all the right vitamins and HTS inhaltions and cpt since 2 months old. If you saw her you'ld never say she has cf.

If you want more information faster I think you should contact your nearest cf clinic and talk to them if they would do sweat test or other test - this way you can get some answeres faster.
Sweat test for an 8 year old is no problem.
I have no idea about U.S. clinics and how it works but here you need a perscription from a pedatrian to go to a cf clinic.

Best is to do gene testing - but this takes time - esspecially if your son has untipical mutations - if any at all.
Sorry you will be having a bad Christmas esspecially if you don't get any answeres before that time ... we got Asia cf diagnosis two days before christmas - her first.
Wish all the luck

 

[Ratatosk]

Is there an way you can get him in sooner to at least look at those symptoms. Possibly have a fecal fat test done to determine if he's pancreatic insufficient, maybe have a respiratory culture done to see if he's growing any common CF bugs such as pseudomonas, steno. maltophilia... Unfortunately, your child does seem to have a lot of CF symptoms and it would be a good idea to find a physician who will at least treat the symptoms as if they're CF until you get your anwers.

 

[Ratatosk]

Is there an way you can get him in sooner to at least look at those symptoms. Possibly have a fecal fat test done to determine if he's pancreatic insufficient, maybe have a respiratory culture done to see if he's growing any common CF bugs such as pseudomonas, steno. maltophilia... Unfortunately, your child does seem to have a lot of CF symptoms and it would be a good idea to find a physician who will at least treat the symptoms as if they're CF until you get your anwers.

 

[Ratatosk]

Is there an way you can get him in sooner to at least look at those symptoms. Possibly have a fecal fat test done to determine if he's pancreatic insufficient, maybe have a respiratory culture done to see if he's growing any common CF bugs such as pseudomonas, steno. maltophilia... Unfortunately, your child does seem to have a lot of CF symptoms and it would be a good idea to find a physician who will at least treat the symptoms as if they're CF until you get your anwers.

 

[2005CFmom]

Sorry you are going though this. But from what you describe, he seems to have some very classic CF symptoms. Here is our diagnosis story in short.

My daughter was diagnosed at 8 years old. She was always at the low percentage for height and weight. But since she was always there, the MD was not concerned. She then developed a cough that would not go away. MD said it was reactive airway disease. After a few months I pretty much freaked out in the MD office...I was worried about the cough, my dad (and grandmother) died of pulmonary fibrosis so I needed to get this figured out.

He referred us to a pulmonologist who spent about 30 seconds with us before asking if she was ever tested for CF. He ordered the tests. Sweat test came back positive, and genetics test showed double delta F508...she has the "classical CF genes".

To add to this, our daughter struggled with "sharting" her pants often. But when she was little she was freaked out by toilets, especially public ones, so we always thought it was because she was trying to hold it for too long.

She is 14 now and doing well. Her lung function is still in the 95-100% range and she weighs over 100 pounds.

Best of luck to you in getting the answers you need.

 

[2005CFmom]

Sorry you are going though this. But from what you describe, he seems to have some very classic CF symptoms. Here is our diagnosis story in short.

My daughter was diagnosed at 8 years old. She was always at the low percentage for height and weight. But since she was always there, the MD was not concerned. She then developed a cough that would not go away. MD said it was reactive airway disease. After a few months I pretty much freaked out in the MD office...I was worried about the cough, my dad (and grandmother) died of pulmonary fibrosis so I needed to get this figured out.

He referred us to a pulmonologist who spent about 30 seconds with us before asking if she was ever tested for CF. He ordered the tests. Sweat test came back positive, and genetics test showed double delta F508...she has the "classical CF genes".

To add to this, our daughter struggled with "sharting" her pants often. But when she was little she was freaked out by toilets, especially public ones, so we always thought it was because she was trying to hold it for too long.

She is 14 now and doing well. Her lung function is still in the 95-100% range and she weighs over 100 pounds.

Best of luck to you in getting the answers you need.

 

[2005CFmom]

Sorry you are going though this. But from what you describe, he seems to have some very classic CF symptoms. Here is our diagnosis story in short.

My daughter was diagnosed at 8 years old. She was always at the low percentage for height and weight. But since she was always there, the MD was not concerned. She then developed a cough that would not go away. MD said it was reactive airway disease. After a few months I pretty much freaked out in the MD office...I was worried about the cough, my dad (and grandmother) died of pulmonary fibrosis so I needed to get this figured out.

He referred us to a pulmonologist who spent about 30 seconds with us before asking if she was ever tested for CF. He ordered the tests. Sweat test came back positive, and genetics test showed double delta F508...she has the "classical CF genes".

To add to this, our daughter struggled with "sharting" her pants often. But when she was little she was freaked out by toilets, especially public ones, so we always thought it was because she was trying to hold it for too long.

She is 14 now and doing well. Her lung function is still in the 95-100% range and she weighs over 100 pounds.

Best of luck to you in getting the answers you need.

 

[Printer]

Your son certainly shows classic CF symptoms but waiting until March is too long. Call your local APPROVED CF CENTER, tell them your story and ask for an appointment. In the mean time that can arrange for a sweat test. Don't wait.

Bill

 

[Printer]

Your son certainly shows classic CF symptoms but waiting until March is too long. Call your local APPROVED CF CENTER, tell them your story and ask for an appointment. In the mean time that can arrange for a sweat test. Don't wait.

Bill

 

[Printer]

Your son certainly shows classic CF symptoms but waiting until March is too long. Call your local APPROVED CF CENTER, tell them your story and ask for an appointment. In the mean time that can arrange for a sweat test. Don't wait.

Bill

 

[TonyaH]

I second what Bill said. Call your local CFF accredited care center. You can find this information by visiting the Cystic Fibrosis Foundation website at www.cff.org and following the links to find a list of centers in your state. With the symptoms you explain in combination with the surgeon's findings, I would think a clinic would get you in right away for testing. If tests come back positive, the CF team at your clinic will get you in right away to begin treatment and education with you.


Best of luck to you and your little guy. I have a 13 year old son with CF. Feel free to message me with any questions you have.

 

[TonyaH]

I second what Bill said. Call your local CFF accredited care center. You can find this information by visiting the Cystic Fibrosis Foundation website at www.cff.org and following the links to find a list of centers in your state. With the symptoms you explain in combination with the surgeon's findings, I would think a clinic would get you in right away for testing. If tests come back positive, the CF team at your clinic will get you in right away to begin treatment and education with you.


Best of luck to you and your little guy. I have a 13 year old son with CF. Feel free to message me with any questions you have.

 

[TonyaH]

I second what Bill said. Call your local CFF accredited care center. You can find this information by visiting the Cystic Fibrosis Foundation website at www.cff.org and following the links to find a list of centers in your state. With the symptoms you explain in combination with the surgeon's findings, I would think a clinic would get you in right away for testing. If tests come back positive, the CF team at your clinic will get you in right away to begin treatment and education with you.


Best of luck to you and your little guy. I have a 13 year old son with CF. Feel free to message me with any questions you have.

 

[serendipity730]

Unfortunately, it does sound like your son has many symptoms of CF. The absence of the VD doesn't mean CF in and of itself, but based on that he's likely to have at least one CFTR (gene that isn't working in CF) mutation. As other have said, waiting until March is definitely too long. In addition to trying to set up a sweat test and appointment at an accredited CF care center, you can pursue genetic testing through your son's pediatrician. CF testing is available at most labs (including Quest Diagnostics and Labcorp). Given your son's symptoms and absence of a VD, insurance should cover the testing. Even if he is only found to have one CFTR mutation, you should still pursue sweat testing, but genetic testing would definitely also be done.

 

[serendipity730]

Unfortunately, it does sound like your son has many symptoms of CF. The absence of the VD doesn't mean CF in and of itself, but based on that he's likely to have at least one CFTR (gene that isn't working in CF) mutation. As other have said, waiting until March is definitely too long. In addition to trying to set up a sweat test and appointment at an accredited CF care center, you can pursue genetic testing through your son's pediatrician. CF testing is available at most labs (including Quest Diagnostics and Labcorp). Given your son's symptoms and absence of a VD, insurance should cover the testing. Even if he is only found to have one CFTR mutation, you should still pursue sweat testing, but genetic testing would definitely also be done.