Question: What benefit would there be to those of us who already know we are affected, to have a DNA test to confirm? Is there any information that a blood test could give us? I already know I have VHL.

— Brian N., Massachusetts

Answer (1): Genetic testing is needed for the parents, in order to be able to test the kids. It helps to find their mutation much faster if they have already diagnosed where the mutation is in the VHL parent. I am not sure if finding out your mutation has any bearing, unless you need it for other family members. Maybe somebody else has more information about that?? My sister had hers done, even though we knew she had VHL, so that both of her sons could have the genetic testing. Even in the last year or so, testing has become even more reliable than before. Her boys were 7 and 9. One has VHL and one does not.

— Lori M., Wisconsin

Answer (2): Aside from providing a match for other family members to be compared to if you were the only diagnosed member, the results from your positive DNA test would be added to the growing database of info on VHL. The greater the numbers of cases studied, the better the chances are of finding and beginning to understand the many variations of VHL... some of this might not become useful for years yet, but each tiny data point is part of the puzzle. It isn’t of direct value, but could well come back to serve you or your descendants some day. A current "benefit" in some cases is being able to distinguish between VHL type I, and type IIa and IIb, which helps anticipate which tumor types are most likely.

— Elaine F., New Hampshire

Testing Children

Question: What is the common wisdom about testing children? My niece is 6 now, and she has never been tested. As much as my mother and I push for it, he would rather not have her tested so young. His physician believes that a positive result will cause him to blame every little sniffle on VHL. So, what is the consensus — panic versus knowledge? Seems easy to me, what do you all think? (she is asymptomatic).

— Brian N., Massachusetts

Answer (1): We believe that the genetic testing is so much better, simply because then you know. Others, however, feel that parents or other children may behave differently toward the one with VHL versus the ones without it. If I found out that my parents had not tested me genetically, and it was available, I would be angry at having to go through awful tests year after year for nothing. Why put your children through it? Of course, some people just don’t want to know. There is one downside to genetic testing, insurance could be harder to get, once a positive test comes back indicating they have VHL. It is recommended if you don’t want to know that at least you do some of the general tests yearly to check on the health of the child. When they are this young, they start out with only minor tests.

My sister was asymptomatic for a very long time. They were sure that she did not carry the VHL gene. Nothing was showing up to indicate VHL. (DNA testing was not available then.) However, on her 21st birthday she was released from the hospital after having a hemangioblastoma removed from her cerebellum. I was released from the hospital only two days before her, after having the same surgery. Her tumor was twice the size of mine. We had known I had VHL, but hers was a very big surprise! My point is that symptoms don’t always show up to let you know something is going on.

My husband and I have adopted, so we have not had to face this issue. We would definitely test, if we ever went down that path, as soon as our doctor recommended it. Of course there is also testing available while you are pregnant, in case you would want to know that early.

Take care, Brian, and good luck with your niece! Be patient and persistent all at the same time!

— Lori M., Wisconsin.

Answer (2): I’d like to add my two cents worth. When you begin to think about insurance companies and the impact of genetic testing on acceptability, it is pretty easy to see how one could think that they were "keeping the secret" by not getting tested. In reality, I cannot imagine that there are any insurance companies that could not view one’s medical files and be stunned at the number of screenings that are part of our lives. I think it would be much better to have the DNA test and hopefully make all the screening unnecessary with a negative test. Who needs the expense and trauma? Even if you test positive, knowing is the first step in taking control of your life and taking better care of yourself.

— Deb C., Michigan

Answer (3): This is a personal opinion and only one, but when I had my spinal tumors removed in 1998, we were sure that I had VHL. Our first step after me was to determine if my two children also had the VHL gene. Neither I, nor my husband, ever wanted our children to go through all of the tests if they were unwarranted. Much to our sorrow, both of the boys have the gene. It is now up to us, as parents, to follow through with their tests until they become of age. The only medicine we have at this point is prevention and screening. Wouldn’t you want to know one way or another before a disaster strikes?

Whatever decision you make will be up to you and your family, good luck on your choice.

— Rhonda S., Malaysia

Answer (4): I don’t know about common wisdom, but we’ve decided that there is little to be gained from testing before the "heavy-duty" scanning starts at puberty. Our kids are 6 and 9, and haven’t been tested yet. It was pointed out by a genetics counselor, that once you have the results, a positive result will alter a family’s dynamics, even by a wee bit, no matter how hard you try (or maybe because you try so hard) — it’s inescapable. Delaying that day isn’t necessarily a bad thing, so long as it doesn’t increase the risk for the child. It is an easy thing for me to rationalize about testing, but on a purely emotional level, the simple hint of the thought that this could affect either of my children directly just turns me to ice. I cannot be the least bit confident that I’d deal with the news half as well as I’d wish to. Knowledge can bear a grain of panic, and we may find temporary security in putting off testing as long as prudently possible.

There is very little difference in how a pediatrician would examine a pre-teen that tested positive vs. negative. Other than retinal checks that are done by my husband’s ophthamologist, pheo testing, and close attention to neurological development, our yearly checkup routine is quite ordinary. Our pediatrician has had pediatric VHL experience, and I trust his judgement. Once the intensive screening begins, I can’t see putting a child through it if it isn’t necessary, and I’d push for testing. I have to admit though, I’m starting to wonder if the concept of having inherited this disease isn’t easier to absorb for a younger kid (ages 10-11) than for a teen. A young child’s grasp of the ramifications might not be quite as wide, and the future beyond a month or two away is generally fuzzier. Being a teen is such an emotional time, that being hit with this scary bombshell, and then an arsenal of scans, is an awful lot to cope with all at once. I think I’d like to see the "idea" of a positive result being digested, before having to deal with the "reality" of it. We’re considering DNA testing in the next year or so, to give us all time to come to terms with any fallout.

— Elaine F., New Hampshire

As printed in the VHL Family Forum 10:1, March 2002. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org.