Open Chat

Topics include: Neck pain; drug interactions, anti-depressants; convincing the health care provider to do preventive screening; DNA testing, "non-hereditary" VHL, and what to do when there's a fuzzy answer to the DNA test; mosaicism in VHL.

Maria: Hi how are you?

Chatter: Hi, sorry I stepped away for a moment. I am having trouble with neck pain today. I don't know how long can sit and type.

Maria: Sorry to hear that, Can't anything help you?

Chatter: I use ice and heat along with motrin and I'm being weaned off of percocet.

Maria: Is your pain from a tumor or surgery to remove one?

Chatter: From surgery to remove a tumor. I have arthritis in my neck where they did the craniotomy.

Maria: Sometimes they try cortisone shots combined with physical therapy. Do you have a physical therapist?

Chatter: We haven't got that far yet.  It seems like it is taking forever for the doctors to treat me.  I keep seeing one doctor after another.

Maria: You may need to see an orthopedist.

Chatter: I have seen one.  I'm waiting for my insurance to authorize some tests.  I am really frustrated at this point  I'm glad I made it to today's chat.

Maria: What did the orthopedist say?

Chatter: He wants to do a Baer brainstem test.  There is also a new brain tumor in the cerebellum that they think might be causing some of this, but they are just not sure.

Maria: In the chat we did recently with physical therapist Deb Hogan she suggested some isometric exercises that might be good.  But it would not be a good idea to do exercises involving movement or stretching until the brainstem test or other tests rule out any physical cause.

Chatter: I have been going to a variety of doctors trying to get to the bottom of my problems - internist, neurologist, and a host of others. I'm quite depressed, so my internist put me on anti-depressants.  I am taking two of them, and I'm concerned about whether it is good to take all these medications together.

Gale: Are you taking other medications as well?

Chatter: I am taking high blood pressure medication and some things for pain and nausea.

Gale: You are right to be concerned.  Be sure that at least one doctor knows all the medications you are taking, and get them all filled at the same pharmacy.  Ask your pharmacist if there are any interactions you should be concerned about.  That's always a good place to start.  You should also be seeing a psychiatrist to monitor your anti-depressants. We are seeing a lot of people getting anti-depressants from their general practitioners, but that is not a good idea.  They don't always work the same way over time, so they need to be checked monthly by an M.D. psychiatrist.  Dr. Gary Woods talked with us about this issue in a recent chat.

Maria: I make a list in a little notebook of all the medications I am taking, and the dosages, and I carry it with me in my purse all the time.  That way when a doctor asks what I'm taking I can put down the entire story.   It's important.  I do that for my elderly father too, and the doctors were able to diagnose a side effect of one of his drugs recently because I had all the information with me.

Another Chatter: My husband sent his blood sample in for testing some months back and there is still no word.  We inquired, and they said they were updating their procedures with input from Dr. Stolle at the University of Pennsylvania and should have results for us within another month.  That was six weeks ago.

Joyce: Have you followed up?

Chatter: I was going to give her two months and then call again.

Joyce: Some mutations are harder to find than others.  If they are learning the new approach from U Penn it will probably take longer than in the future.  Meanwhile I know you are anxious to hear, so don't be shy to call and request an update.

Chatter: My husband's neurosurgeon just did a series of tests - scans, ultrasounds, the whole bit - and now says that since everything is clear that no further tests will be necessary unless something else turns up.  I understood that screening was to be annually. 

Joyce: All clear, nothing at all, and you're how old?

Gale: Wow! Time to celebrate!

Chatter: Mid-40's.  Of course I don't have a very high confidence that this doctor knows VHL very well, either, so I'm unsure how much to trust the "all clear."

Joyce: If someone has a history of VHL issues, but no evidence of tumor activity in their mid-40's, it might be okay to go more than one year between tests, but you should probably go every two years anyway.  New things can pop up even at that age, though usually not as rapidly as in a teen-ager.

Dr. Jane Green at Memorial Hospital in Newfoundland has done extensive work over the last twenty or more years to study the cost-effectiveness of preventive screening, proving not only that it's good for the patient's long-term health and well-being, but that it also makes economic sense for the health system.  For people in Canada it would be good to be in touch with her and ask her opinion on what screening cycle she would recommend in this situation, and how best to lobby with your local doctors to get preventive screening.  She is the Canadian expert on VHL.

Chatter: This really is a lifelong fight, isn't it?

Gale: You should always be on your toes. It's different for everyone.  

Chatter: I've also been told by the ophthalmologist that there is no need to check the children again either.  They are 6 and 8.  Then I saw your note about your son, Joyce.  I guess you have to stay on top of this yourself.

Joyce: Yes, it's a lifelong challenge, like having diabetes.

Gale: May I ask what you do to take care of him nutritionally?   How's his dietary intake?

Chatter: He eats well, always has.  He has not changed his diet.

Gale: But he eats well?  Vegetables and the like?  Does he eat meat?

Chatter: Yes, he does eat meat.  Mostly chicken and mostly grilled.   Very little fat and tons of veggies.  We have red meat about once a week and enjoy it thoroughly.

Gale: Great!  Keep it up!  Does he exercise?

Chatter: Little exercise.  He works long days in the office.  I have forced him by hook and crook to swim once a week and that's about it.

Gale: But he eats right.  I'm convinced this is the way to go: good basic diet and moderate exercise.  In our modern society we have gotten away from these simple basic things. 

Joyce: This weekend, while putting the March newsletter on the internet, I re-read the article from 1994 that Emma K. referred to, Families Share Diet and Exercise Tips.  It has held up very well.

Chatter: I always wonder whether the older articles are okay.

Joyce: Yes, every couple of years I go through and write little editor's notes where necessary, or refer from an older article to a newer one that you should read for balance.  The articles Emma referred to are all very good ones.  Basic nutrition, moderate exercise, and lots of veggies.  Not too much exercise.  People who push themselves too hard often have more problems.

Gale: My guess is that too much exercise would not be good for many reasons.  They may not be eating well and they are putting their bodies under undue stress.

Joyce: I used to watch my husband bench-press 300 pounds, with the veins standing out on his temples, and wonder what those little VHL capillaries looked like in his retinas and brain. 

Gale: I don't think doing that kind of exercise is good.  Lifting weights is not aerobic.  You want something that will increase oxygenation.  Swimming is great, or walking.

Chatter: He is much more tired since his spinal surgery a year ago.   He requires more sleep than he used to, and he got every cold this winter. Normally he never gets sick.

Gale: Think about three things: stress, vitamins, and especially vitamin C.

Chatter: He takes a multi-vitamin.

Gale:  He probably needs more Vitamin C than that.  Those multi-vitamins don't have a lot of vitamin C.

Chatter: He drinks lots of cranberry juice and eats lots of fruit daily.   I think his system is just low.

Gale: Our bodies need more vitamins when we are under stress than they would normally.  With his good diet, he is getting a good general level of vitamins, but the additional stresses of the surgery and the workload may cause him to need more vitamins than usual. 

Joyce: Has he had any physical therapy since the surgery?

Chatter: No physical therapy at all.

Joyce: You know, we have been noticing that following neurosurgery or urologic surgery they almost never refer people to physical therapy.  If you had had your hip replaced they would send you for physical therapy immediately.   But these other surgeries also cut through muscle and rearrange your nerves to some extent, and that needs some rehabilitation too.  You might ask the surgeon or your regular doctor to refer him for some physical therapy, to help strengthen the back muscles that were weakened.  That would help to alleviate some of the stress and hopefully give him more energy.

Another Chatter: My husband had DNA testing and they said it is not hereditary, mutation instead.  Are our children subject to VHL?

Joyce: Interesting that you bring that up, there is a discussion going on in egroups about that right now.  When they say "not hereditary" they mean that your husband did not inherit it from his parents.  Did they test both his parents?

Chatter: No, his parents are no longer living.  They died after age 70 and 80. 

Joyce: So how do they know he did not inherit the gene?  It is quite possible to have the VHL mutation in your genes and still live to be 80.  We know three people who were diagnosed in their 80's and still have no symptoms. 

Chatter: Supposedly, according to our neurologist, that was what the DNA report said. 

Joyce: The DNA report can only tell you what is or is not in the genome of an individual.

Chatter: So our kids could get VHL.

Joyce: Let's take this one step at a time.  What did he tell you about the DNA report?  Does your husband have VHL or not?  Did they find a
mutation?

Chatter: The report says "Does not have a detectable deletion or point mutation in his VHL gene." 

Joyce: Aha.  Okay.  And what symptoms does he have?  And where was the DNA testing done?

Chatter: He has had a hemangioblastoma in the cerebellum, a epididymal cystadenoma removed from one testicle, and cysts in both kidneys.  The DNA testing was done at the University of Pennsylvania.

Joyce: What you have described is a classic case of VHL.  So the likelihood is that he has VHL in his genome, they just can't see it. The University of Pennsylvania is an excellent place to have the testing done, and they usually find mutations in everyone who has VHL symptoms, but there is a very small number of cases (about 1%) where they can't see it.  That is why you need to talk with a geneticist or a genetic counselor.  A neurologist is not qualified to help you interpret what this means to you.

Chatter: Can I have my children tested?

Joyce: If they can't see the mutation in your husband, then they don't have the information they need to look in your children's blood samples.  As a mother, I would encourage you to behave as though the children are at some risk of having VHL.  That does not mean that they will ever have it!  But knowing that there is some risk there, you can take steps to protect them from serious consequences.  Take them annually to an ophthalmologist, and do the other non-invasive, non-scary things listed in the Handbook.

Chatter: How can my husband have classic VHL and they can't see it in his genes?

Joyce: Well, they don't know everything yet about the DNA testing.   It's much better now than it used to be, but it's still not perfect.

Gale: If there are no further questions, I think we will end for tonight.   Remember the upcoming conference in July - it's great to meet other people.  Thank you for joining us, and remember we're only a phone call or an e-mail away.

Follow-up e-mail from Joyce to this Chatter:

Good morning.  I sent my notes from our conversation last night (without identifying you) to Dr. Catherine Stolle, head of the U Penn lab, and to Dr. Gladys Glenn at the NIH, to double-check and make sure I was telling you the right thing.  I'm on track, but I want to add a few things.

In answer to your primary question: "Are my children at risk for VHL?" all we know at this point is "Maybe".  So my recommendation for behaving as if they are at risk still stands.

In answer to the question "Does my husband have VHL or not?" we need to pursue this a bit more, since an answer to this question will help to answer the one about your children.  If he does not have VHL, he cannot possibly pass it to his children.  If he does have VHL, then there's a 50/50 chance of passing it -- which still does not mean that EITHER of your children necessarily has VHL.  We have seen five unaffected children out of five, or four out of four affected, it's a simple coin-toss each time you make a baby.

But let's take step one first: Does he or doesn't he?

Dr. Stolle's batting average so far is 100%, meaning that of the people with clinically proven VHL, she has found the mutation area in all of them. There is no true 100% in nature, so let's call that 99%.  That's why I said there was a 1% chance of error.  She told me how she follows up in a case like this one.

What you told me is that your husband has:

        1) a hemangioblastoma of the cerebellum. 
        2) a cystadenoma of the epididymis
        3) cysts on both kidneys

That sounds at first blush like a classic case of VHL.  But Dr. Stolle said that in a case like this one, where she can't find the mutation area, there are three possibilities:

a) Yes, it is VHL and they just can't see it yet in the genes just because they don't know everything.

b) No, it's not really VHL, it just sounds like it

c) Or it's what's know as a "mosaicism".  You know what a mosaic is, right? A picture made up of different pure-color pieces of glass or tile.  If you stand back, you see a nice picture, but if you look closely, each piece is unique.  They use this term in genetics to mean that some cells have the VHL change, and others do not.  For example, the brain cells might have the VHL alteration in the gene, but the cells in another part of the body, or in the sperm cells, do not.  Or the reverse.   This is very rare, but we have seen several cases.

Case (a) is what I mentioned last night

Case (b) deserves some exploration:

1. How was the diagnosis of hemangioblastoma made?  Was this an accurate diagnosis?  
2. About 30% of men in the general population have cystadenomas of the epididymis.  In itself, this is not indicative of VHL.  If epididymal cysts are bilateral (on both sides) then this is definitely VHL.  On one side alone, however, maybe not.
3. Cysts in the kidneys of adults, men and women, are pretty normal and are not in themselves a reason to believe it's VHL.

It's the combination of these three things together that sounds like VHL.  But if the brain tumor was not a hemangioblastoma, now there is a very weak argument for VHL.  And even if it is, hemangioblastomas do occur sporadically (at random) in the general population, or might indicate some mosaicism.

3) Mosaicism.  It looks like this case may be in a foggy area where they will likely not be able to give you a clear yes/no answer.  So I would encourage you to read the sections in our Handbook that talk about screening in young children, and then armed with that knowledge settle back and don't panic, but remain calmly watchful, just as you would watch out for any of the other dangers that surround our selves and our
children.

Dr. Stolle suggests that there are two things to do:

First, she would like to speak with your husband's doctor to get clarification on the nature of the hemangioblastoma.  It could be that they could rule out VHL with a conversation or two, and then you're off the hook altogether.

Dr. Catherine Stolle, Genetics
U. Pennsylvania School of Medicine
451 Curie Blvd
Philadelphia  PA  19104-6145 
W: 215-573-3030
Fax: 215-573-5892
E-mail: stolle@mail.med.upenn.edu

Second, we would encourage you to get connected with a geneticist in your area, so that you have someone local who can help explain all this foggy terminology and what it means or doesn't mean to you and your family.   Geneticists are usually connected with departments of pediatrics or obstetrics.  Start there, or with your own gynecologist, and get a recommendation for someone who is a good explainer, and who perhaps has a specialty in cancer genetics, as this will ensure they are familiar with the particular questions that will come up here.

I do hope that helps.  If you want to talk about this, please call me or call the hotline.  I know it's a forest of strange terminology and concepts -- and scary to boot! 

If you'd like me to send you a Handbook, send me your postal address and I'll add you to the mailing list.  Or you will find it online at http://www.vhl.org/handbook

My very best wishes to you and your family,

Joyce

--
Joyce Wilcox Graff, Editor
VHL Family Alliance
2001 Beacon St, Suite 208, Boston, MA 02135-7787 USA
(617) 277-5667; Fax: 858-712-8712
http://www.vhl.org

Contact the Alliance at info@vhl.org