8 yr old son with missing vas deferens

[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.

 

[Printer]

Mary, you are correct but may I add that the Genetic Screening should be a FULL SEQUENCE.

Bill

 

[Printer]

Mary, you are correct but may I add that the Genetic Screening should be a FULL SEQUENCE.

Bill

 

[Printer]

Mary, you are correct but may I add that the Genetic Screening should be a FULL SEQUENCE.

Bill

 

[Andrea2XCFers]

You do not have to wait for even an approved CF center to get a sweat test! In 1996, our friend, a pediatrician, ordered a sweat test at our local hospital and we knew that afternoon what the number was (barely positive). The CF center (two hours away), once we got an appointment, re-did the test. At that time they did both boys' sweat tests, and both were positive. We, too, are very tall (I'm 6' and my husband is 6'4") so our boys were skinny, but never short. Both boys ate all the time and had multiple foamy diapers every day. The older one threw up his food and had awful stomach pain every day of his five years until we got the diagnosis. Personally, the diagnosis was almost a relief, because then we could really start The Fight! And, no, they do not have vas deferens, but they do make perfectly healthy CF-carrying sperm that can be extracted, someday, and matched with non-CF eggs to make babies, should they so desire. (obviously the child would carry CF, which is a definite consideration, in my opinion). My guys are 20 and 17, now. Each day is a fight and it's a life of constant vigilance, but it shouldn't stop either of you from planning, dreaming, trying, playing, working, studying and living for the future. God Bless....Andrea in Texas

 

[Andrea2XCFers]

You do not have to wait for even an approved CF center to get a sweat test! In 1996, our friend, a pediatrician, ordered a sweat test at our local hospital and we knew that afternoon what the number was (barely positive). The CF center (two hours away), once we got an appointment, re-did the test. At that time they did both boys' sweat tests, and both were positive. We, too, are very tall (I'm 6' and my husband is 6'4") so our boys were skinny, but never short. Both boys ate all the time and had multiple foamy diapers every day. The older one threw up his food and had awful stomach pain every day of his five years until we got the diagnosis. Personally, the diagnosis was almost a relief, because then we could really start The Fight! And, no, they do not have vas deferens, but they do make perfectly healthy CF-carrying sperm that can be extracted, someday, and matched with non-CF eggs to make babies, should they so desire. (obviously the child would carry CF, which is a definite consideration, in my opinion). My guys are 20 and 17, now. Each day is a fight and it's a life of constant vigilance, but it shouldn't stop either of you from planning, dreaming, trying, playing, working, studying and living for the future. God Bless....Andrea in Texas

 

[Andrea2XCFers]

You do not have to wait for even an approved CF center to get a sweat test! In 1996, our friend, a pediatrician, ordered a sweat test at our local hospital and we knew that afternoon what the number was (barely positive). The CF center (two hours away), once we got an appointment, re-did the test. At that time they did both boys' sweat tests, and both were positive. We, too, are very tall (I'm 6' and my husband is 6'4") so our boys were skinny, but never short. Both boys ate all the time and had multiple foamy diapers every day. The older one threw up his food and had awful stomach pain every day of his five years until we got the diagnosis. Personally, the diagnosis was almost a relief, because then we could really start The Fight! And, no, they do not have vas deferens, but they do make perfectly healthy CF-carrying sperm that can be extracted, someday, and matched with non-CF eggs to make babies, should they so desire. (obviously the child would carry CF, which is a definite consideration, in my opinion). My guys are 20 and 17, now. Each day is a fight and it's a life of constant vigilance, but it shouldn't stop either of you from planning, dreaming, trying, playing, working, studying and living for the future. God Bless....Andrea in Texas

 

[brent]

Thanks guys. Strangely enough it helps to see people say it. It's been driving me crazy trying to figure it out from the websites - am I being overprotective and reading too much into it? or am I endangering my son by not being protective enough, should I already be acting?

My wife is going up to our local GP today to get his medical records sent down and to ask if this new piece of information, CAVD, is as bad as it sounds. Happily we're going to be going through this in Australia. We don't have private health insurance but the public health system is free and apparently the public system is pretty good for kids with CF. I know what it can be like in America paying for medical stuff, it's just a nightmare.

I guess that life is by definition a bumpy road, and there isn't one of us has a road less bumpy than they'd like. Good luck to you all, and thanks again for taking the time to write. Unfortunately it's looking like I'll be a forum member, so I'll be seeing you around on the boards.

 

[brent]

Thanks guys. Strangely enough it helps to see people say it. It's been driving me crazy trying to figure it out from the websites - am I being overprotective and reading too much into it? or am I endangering my son by not being protective enough, should I already be acting?

My wife is going up to our local GP today to get his medical records sent down and to ask if this new piece of information, CAVD, is as bad as it sounds. Happily we're going to be going through this in Australia. We don't have private health insurance but the public health system is free and apparently the public system is pretty good for kids with CF. I know what it can be like in America paying for medical stuff, it's just a nightmare.

I guess that life is by definition a bumpy road, and there isn't one of us has a road less bumpy than they'd like. Good luck to you all, and thanks again for taking the time to write. Unfortunately it's looking like I'll be a forum member, so I'll be seeing you around on the boards.

 

[brent]

Thanks guys. Strangely enough it helps to see people say it. It's been driving me crazy trying to figure it out from the websites - am I being overprotective and reading too much into it? or am I endangering my son by not being protective enough, should I already be acting?

My wife is going up to our local GP today to get his medical records sent down and to ask if this new piece of information, CAVD, is as bad as it sounds. Happily we're going to be going through this in Australia. We don't have private health insurance but the public health system is free and apparently the public system is pretty good for kids with CF. I know what it can be like in America paying for medical stuff, it's just a nightmare.

I guess that life is by definition a bumpy road, and there isn't one of us has a road less bumpy than they'd like. Good luck to you all, and thanks again for taking the time to write. Unfortunately it's looking like I'll be a forum member, so I'll be seeing you around on the boards.

 

[brent]

Yeah........... nuts. Just got off the speakerphone with my wife at the doctor. He's a really nice down to earth guy. He was my family GP from when I was a kid, and now we've moved back to the area 20 years later he's looking after my kids! He at least confirmed what I feared - that it is most likely CF, that it's 'obviously' a milder form given that he's 8 and they're only discovering it now, and that we'll have to wait for the blood test. If the blood test doesn't come back in a couple of weeks he's going to refer us directly to the Royal Children's Hospital clinic in Melbourne (another reason why I'm so glad we just moved from the country back to the city! 7 hour round trip to go to the clinic?? No thanks!) which is apparently the only CF clinic in my city. So even if we had private insurance it wouldn't matter because we'd just be paying to have someone refer us to the free clinic, and the Royal Children's is an excellent hospital. He says if he's admitted to the clinic he'll get much more aggressive chest infection treatment, physio, etc, so that sounds good. They take paediatric care very seriously here, which I'm grateful for. Right, that's it. I'm done with this year. It totally sucked. In the last 4 months I've been made redundant, moved 350km to find work, been unable to sell my house, moved my family in with my parents - tearing them away from their friends, started a new job, bought a second house (move in January), rented out the first one, organised my sister's rushed visa-wedding to a foreigner in this city when she lives 1000km away, and now found out that my son has a fatal congenital disease on top of his ADD, hernias and missing teeth. Bring on New Year's Eve, I say. I'm ready to start a fresh year in a new house with a new school and a new life.

 

[brent]

Yeah........... nuts. Just got off the speakerphone with my wife at the doctor. He's a really nice down to earth guy. He was my family GP from when I was a kid, and now we've moved back to the area 20 years later he's looking after my kids! He at least confirmed what I feared - that it is most likely CF, that it's 'obviously' a milder form given that he's 8 and they're only discovering it now, and that we'll have to wait for the blood test. If the blood test doesn't come back in a couple of weeks he's going to refer us directly to the Royal Children's Hospital clinic in Melbourne (another reason why I'm so glad we just moved from the country back to the city! 7 hour round trip to go to the clinic?? No thanks!) which is apparently the only CF clinic in my city. So even if we had private insurance it wouldn't matter because we'd just be paying to have someone refer us to the free clinic, and the Royal Children's is an excellent hospital. He says if he's admitted to the clinic he'll get much more aggressive chest infection treatment, physio, etc, so that sounds good. They take paediatric care very seriously here, which I'm grateful for. Right, that's it. I'm done with this year. It totally sucked. In the last 4 months I've been made redundant, moved 350km to find work, been unable to sell my house, moved my family in with my parents - tearing them away from their friends, started a new job, bought a second house (move in January), rented out the first one, organised my sister's rushed visa-wedding to a foreigner in this city when she lives 1000km away, and now found out that my son has a fatal congenital disease on top of his ADD, hernias and missing teeth. Bring on New Year's Eve, I say. I'm ready to start a fresh year in a new house with a new school and a new life.

 

[brent]

Yeah........... nuts. Just got off the speakerphone with my wife at the doctor. He's a really nice down to earth guy. He was my family GP from when I was a kid, and now we've moved back to the area 20 years later he's looking after my kids! He at least confirmed what I feared - that it is most likely CF, that it's 'obviously' a milder form given that he's 8 and they're only discovering it now, and that we'll have to wait for the blood test. If the blood test doesn't come back in a couple of weeks he's going to refer us directly to the Royal Children's Hospital clinic in Melbourne (another reason why I'm so glad we just moved from the country back to the city! 7 hour round trip to go to the clinic?? No thanks!) which is apparently the only CF clinic in my city. So even if we had private insurance it wouldn't matter because we'd just be paying to have someone refer us to the free clinic, and the Royal Children's is an excellent hospital. He says if he's admitted to the clinic he'll get much more aggressive chest infection treatment, physio, etc, so that sounds good. They take paediatric care very seriously here, which I'm grateful for. Right, that's it. I'm done with this year. It totally sucked. In the last 4 months I've been made redundant, moved 350km to find work, been unable to sell my house, moved my family in with my parents - tearing them away from their friends, started a new job, bought a second house (move in January), rented out the first one, organised my sister's rushed visa-wedding to a foreigner in this city when she lives 1000km away, and now found out that my son has a fatal congenital disease on top of his ADD, hernias and missing teeth. Bring on New Year's Eve, I say. I'm ready to start a fresh year in a new house with a new school and a new life.

 

[Caro46]

... What a year!

I must say though, finding out for sure that your son has CF should be a large relief, if the final diagnosis is so. The time and stress spent questioning wandering and lying awake at night pondering can now be replaced with the process of learning how to live with it. And with the amount of crap you've been going through, this should be a relatively pleasant change! The diagnosis will probably help put even more puzzle pieces into place and you'll be able to handle the next infection/sickness even better... Knowing is just so much better. Knowledge is power!

I've heard Australia has a great support system. We're in South Africa, and apart from not being able to get certain vitamins etc. because it's not financially worthwhile for certain pharmaceutical companies to export in such small quantities (aargh!), we've got an awesome support system with our clinic (which consists of pulmonogist, physiotherapist, dietitian and social worker, and a few more) + few extra doctors (Anna sees a dietitian and a paediatrician separately as well), and this is invaluable. Good you're in the city now! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Anyway, I'm new to this, Anna's only 2 and 5 months, and we're still learning, but the love for your kid drives you to learn quickly!!

Let us know when you get the results, and good luck!

 

[Caro46]

... What a year!

I must say though, finding out for sure that your son has CF should be a large relief, if the final diagnosis is so. The time and stress spent questioning wandering and lying awake at night pondering can now be replaced with the process of learning how to live with it. And with the amount of crap you've been going through, this should be a relatively pleasant change! The diagnosis will probably help put even more puzzle pieces into place and you'll be able to handle the next infection/sickness even better... Knowing is just so much better. Knowledge is power!

I've heard Australia has a great support system. We're in South Africa, and apart from not being able to get certain vitamins etc. because it's not financially worthwhile for certain pharmaceutical companies to export in such small quantities (aargh!), we've got an awesome support system with our clinic (which consists of pulmonogist, physiotherapist, dietitian and social worker, and a few more) + few extra doctors (Anna sees a dietitian and a paediatrician separately as well), and this is invaluable. Good you're in the city now! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Anyway, I'm new to this, Anna's only 2 and 5 months, and we're still learning, but the love for your kid drives you to learn quickly!!

Let us know when you get the results, and good luck!

 

[Caro46]

... What a year!

I must say though, finding out for sure that your son has CF should be a large relief, if the final diagnosis is so. The time and stress spent questioning wandering and lying awake at night pondering can now be replaced with the process of learning how to live with it. And with the amount of crap you've been going through, this should be a relatively pleasant change! The diagnosis will probably help put even more puzzle pieces into place and you'll be able to handle the next infection/sickness even better... Knowing is just so much better. Knowledge is power!

I've heard Australia has a great support system. We're in South Africa, and apart from not being able to get certain vitamins etc. because it's not financially worthwhile for certain pharmaceutical companies to export in such small quantities (aargh!), we've got an awesome support system with our clinic (which consists of pulmonogist, physiotherapist, dietitian and social worker, and a few more) + few extra doctors (Anna sees a dietitian and a paediatrician separately as well), and this is invaluable. Good you're in the city now! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Anyway, I'm new to this, Anna's only 2 and 5 months, and we're still learning, but the love for your kid drives you to learn quickly!!

Let us know when you get the results, and good luck!

 

[Caro46]

Oh, and the sweat test - I don't know how it works there but for us it was quite a quick process. Once Anna's paediatrician had admitted her to hospital and narrowed down the possibilities of what was wrong, it took literally 24 hours for the specialist nurse to come and do a sweat test and process and supply the results. Then she did another one to confirm, which took another 24 hours. Hopefully you won't have to wait too long.....!

 

[Caro46]

Oh, and the sweat test - I don't know how it works there but for us it was quite a quick process. Once Anna's paediatrician had admitted her to hospital and narrowed down the possibilities of what was wrong, it took literally 24 hours for the specialist nurse to come and do a sweat test and process and supply the results. Then she did another one to confirm, which took another 24 hours. Hopefully you won't have to wait too long.....!

 

[Caro46]

Oh, and the sweat test - I don't know how it works there but for us it was quite a quick process. Once Anna's paediatrician had admitted her to hospital and narrowed down the possibilities of what was wrong, it took literally 24 hours for the specialist nurse to come and do a sweat test and process and supply the results. Then she did another one to confirm, which took another 24 hours. Hopefully you won't have to wait too long.....!

 

[oldman]

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>