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ive read some things on here about people bein tested for vhl and it commin back no vhl but they do have it , im confused , i have vhl and my daughter my son come back with a no but do i really beleave that now , i find myself yet again questioning this issue , do i still ask for him to be screened as well ,
Hi
In 1996 I was tested for vhl and when the results came back it said that i did not have vhl.The results confused me as i had all these problems and did not know how to explain it - for some weird reason having vhl was good news - at least i knew how to explain what was wrong with me. This piece of news kind was devastated me.
I was tested again in 2005 and the blood samples were sent to the same lab - the results were that i did have vhl. As i was a different ethinic and that was the reason i was first told that i did not have vhl.
I was told and also read somewhere that it can skip a generation or two or that depending on who has the stronger gene - the vhl gene may not be passed to the children - that was how it was explained to me . I was told that children would be tested at five years old ....my aunt had vhl and one of the daughters has vhl while the other does not - she was tested and they told her that she does not have vhl. So far she is okay but her sister already has had two ops.
in your case maybe not screened but tested again in a few years to be on the safe side but don't qoute me on that as i may be wrong. Also best to ask the doctor / genetics coucellor about it .......let me know what they say or what your experience has been as i have a nephew who is a year two months now and it will be good to know what other people have done in this circumstance ..... hope this is of some help .....sheela
hi yes it helps alot thankyou , ive never been told it skips, i will question it again , ive hosiptal wesnesday so i will be havin a word about it , maybe he hasnt got my strain but what about another strain , will let you know whats said thanks for answering me
Vhl does not skip a generation. They once thought it did, but it has been determined and verified that it does not skip a generation. Any offspring has a 50% chance of inheriting the faulty gene from an affected parent.
I'm sure others will chime in with more medical knowlege, but it is the weekend and I just wanted to post that it is not an accurate statement.
GL
well ive always been told it doesnt skip, but it is a bit much when people are sayin they have vhl when been tested not to have it , and now they have , i have vhl and i know the score on me and my daughter , i thought i knew for sure about my son but what im sayin is maybe i dont know for sure , even with his test commin back sayin no to vhl , this is why im sayin confused on this subject ,
I think the tests are pretty accurate now providing your testing is done at one of the labs in the VHL handbook. My daughter tested negative, but when she see's her ophthalmologist each year I also have them do a quick retinal exam as part of her eye appt. Also, when she see's her pediatrician, I always ask them to take her BP. I know she tested negative for VHL, but I figure if somehow there was a mistake and she does have it, these 2 simple things would be a good line of first defence for her.
Hi,
Perhaps Joyce or someone can explain the term autosomal dominant. All my VHL medical/genetic info states that VHL is autosomal dominant. An understanding of this will explain how VHL is passed on through the generations. Cheers
Autosomal dominant means
autosomal = not sex-linked
dominant = it only takes one altered copy of the gene to create the condition.
Leslie, it is true that in some cases years ago people were told they did not have VHL but in fact they did. The reverse is also true. But that was in the "old days" when the testing was not as reliable.
It is also true that some people (like Sheela) who are the first ever in their family were originally told they did not have VHL because the testing did not find their particular mutation yet. As the testing becomes more reliable, we are able to find more different kinds of alterations.
HOWEVER the testing in the Batley family is known and reliable. Your children are not the first ones in your family to be tested for VHL. The testing lab knows exactly where to look to find the alteration that runs in your family. If they had inherited that alteration, the lab would definitely have found it.
Therefore, in your case -- or any other case where the alteration in the family is known for sure -- the testing is extremely reliable, and you should accept the results.
I know it's hard not to worry -- after all, it's in your job description as a mother! -- but in this case, if something comes up to suggest VHL, keep repeating to yourself "he doesn't have the gene". Headache? "He doesn't have the gene."
Nonetheless, he is very much a member of the general population, and still at some level of risk for anything you can name. So keep doing your mother's job of watching out for signs that he should go to the doctor and check things out. But try not to transfer to him any of your concerns about VHL. Your children will also need your reassurance that they do not carry the altered gene. They need to feel free to plan their lives without worrying about VHL.
All the best,
Joyce
I stand corrected about VHL skipping a generation as that was what i was told. I have learnt something new ..thanks
Batley,
I would recommend getting your type mapped. People with VHLs have slightly different type of gene alterations. It will be the same in the same family. For peace of mind I would also have the child without VHL screeneed (not as frequently), but go ahead have the eye exams and ultrasound atleast every 3 years. We hope he never gets it, but remember that it is tough for children who have to deal with their siblings with VHL when they are VHL free. So maybe this will make them get them more bonded and the VHL free child can understand more what the sister is going through.
Batley,
Just one more thing. My brother had testicular cancer 3 years ago (at the age if 36) which was successfully operated on. He also has VHL. The testicular cancer was unrelated to VHL, but on one of his regular check ups for VHL the doctors discovered the cancer.
Just a little off the topic but I would like to mention thanks to the other hope for VHL survivors - Joyce Graff . Thank you Ma'am.
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