Hi, my name is Bill. I was as you son is when I was 8. I spent a life time without knowing and was finally DX at 60 years old. I am still skinny as a rail, have the missing Vas and have always had digestive problems. I wish I could have know at 8 and taken better care of myself. See if you can at least meet with a clinic that understands CF and get him help with the digestive problems. That will make him healthier. Best of luck for your son.<br>
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8 yr old son with missing vas deferens
- Thread starter brent
- Start date
Hi, my name is Bill. I was as you son is when I was 8. I spent a life time without knowing and was finally DX at 60 years old. I am still skinny as a rail, have the missing Vas and have always had digestive problems. I wish I could have know at 8 and taken better care of myself. See if you can at least meet with a clinic that understands CF and get him help with the digestive problems. That will make him healthier. Best of luck for your son.<br>
CBAVD is caused by the 5T variant on the CFTR. I was the first person diagnosed with CF to have a homozygous 5T variant. That was back in 1995. Since that time, most (but not necessarily all) males with CBAVD have been diagnosed with mild cases of CF, even if CBAVD is the only symptom. Also, most people with this variant have sweat chloride tests in the borderline range. The only way to know for sure is to do a complete blood workup where they will look for the 5T variant - and not just a screening. You really need to contact the nearest CF clinic and explain your situation so that you can have a diagnosis (or not) sooner than later.<br>Good luck.<br>Laura (aka "Moldie Oldie")
CBAVD is caused by the 5T variant on the CFTR. I was the first person diagnosed with CF to have a homozygous 5T variant. That was back in 1995. Since that time, most (but not necessarily all) males with CBAVD have been diagnosed with mild cases of CF, even if CBAVD is the only symptom. Also, most people with this variant have sweat chloride tests in the borderline range. The only way to know for sure is to do a complete blood workup where they will look for the 5T variant - and not just a screening. You really need to contact the nearest CF clinic and explain your situation so that you can have a diagnosis (or not) sooner than later.<br>Good luck.<br>Laura (aka "Moldie Oldie")
You are going to have lots of questions once you have a diagnosis (and possibly beforehand as well). Feel free to call me at (303) 882-6070. I am 44 with cf and cf-related diabetes (and naturally CBAVD). I was diagnosed at 8mos in 1967 because I had a pediatrician who was really on the ball. I definitely know what it's like to be eight years old with this condition. If your son is coming home with poo in his pants he's probably spending a lot of time with stomach/bowel discomfort too.
Best
David Sholes
Bennington, Vermont
Best
David Sholes
Bennington, Vermont
You are going to have lots of questions once you have a diagnosis (and possibly beforehand as well). Feel free to call me at (303) 882-6070. I am 44 with cf and cf-related diabetes (and naturally CBAVD). I was diagnosed at 8mos in 1967 because I had a pediatrician who was really on the ball. I definitely know what it's like to be eight years old with this condition. If your son is coming home with poo in his pants he's probably spending a lot of time with stomach/bowel discomfort too.
Best
David Sholes
Bennington, Vermont
Best
David Sholes
Bennington, Vermont
KaiserWilly
New member
So many respondants are correct in saying get the sweat test as soon as you can. I had only one vas deferens when my urologist went in to delete two vas deferens after my wife and I had two perfectly healthy (NO CF) children. He found one enlarged Vas Deferens and no sign of another. I have a milder mutation gene on one side (relatively good news)and the Delta F 508 on the other (not so good). I am currently 52 with two adult children with no CF health problems and only received a double lung transplant this year which is I avoid rejection and infections should allow me to live out a relatively normal life span.
My point is this, even if he has CF, there is a wide spectum of disability with CF, some that just impact your life without taking it over, ( also possible he has NO CF) and it is possible that he may have children that are perfectly healthy themselves. I would encourage you to get the salt test done and remember they are very close to a cure. I wish for you and your son hope, luck and a long healthy life. Kaiser Willy
My point is this, even if he has CF, there is a wide spectum of disability with CF, some that just impact your life without taking it over, ( also possible he has NO CF) and it is possible that he may have children that are perfectly healthy themselves. I would encourage you to get the salt test done and remember they are very close to a cure. I wish for you and your son hope, luck and a long healthy life. Kaiser Willy
KaiserWilly
New member
So many respondants are correct in saying get the sweat test as soon as you can. I had only one vas deferens when my urologist went in to delete two vas deferens after my wife and I had two perfectly healthy (NO CF) children. He found one enlarged Vas Deferens and no sign of another. I have a milder mutation gene on one side (relatively good news)and the Delta F 508 on the other (not so good). I am currently 52 with two adult children with no CF health problems and only received a double lung transplant this year which is I avoid rejection and infections should allow me to live out a relatively normal life span.
My point is this, even if he has CF, there is a wide spectum of disability with CF, some that just impact your life without taking it over, ( also possible he has NO CF) and it is possible that he may have children that are perfectly healthy themselves. I would encourage you to get the salt test done and remember they are very close to a cure. I wish for you and your son hope, luck and a long healthy life. Kaiser Willy
My point is this, even if he has CF, there is a wide spectum of disability with CF, some that just impact your life without taking it over, ( also possible he has NO CF) and it is possible that he may have children that are perfectly healthy themselves. I would encourage you to get the salt test done and remember they are very close to a cure. I wish for you and your son hope, luck and a long healthy life. Kaiser Willy
I agree with the sweat test but my grandson came back low borderline 3 times before they did a gene test to confirm. He is more gastro than lung at this point. Doctors think his Vas Deferens is affected too but won't know till later in life. A diagnosis is imperitive, he needs medication so his tummy won't hurt, (enzymes) and breathing treatments and such. The longer you wait, the more damage can occur. Be assertive and make them answer all your questions, my daughter makes lists and takes them with her so she wont forget. Good luck to you.
I agree with the sweat test but my grandson came back low borderline 3 times before they did a gene test to confirm. He is more gastro than lung at this point. Doctors think his Vas Deferens is affected too but won't know till later in life. A diagnosis is imperitive, he needs medication so his tummy won't hurt, (enzymes) and breathing treatments and such. The longer you wait, the more damage can occur. Be assertive and make them answer all your questions, my daughter makes lists and takes them with her so she wont forget. Good luck to you.