The U.S. National Institutes of Health
now recommends DNA testing by age 1, and screening of young children at risk beginning in the first year of life.

Early diagnosis and appropriate treatment are the keys to maintaining health.

See new recommendations from the
U.S. National Institutes of Health

Question: I am pregnant with our first child and have decided against testing for VHL with amniocentesis because the result would make no difference to us. We have been told, though, that we will have to wait until he is 5 years old before they can test once he’s been born. Is that right? It doesn’t seem to make any sense to us.

– Anne B., England

Answer #1: Technically, genetic testing is possible at any age — from the womb (via amniocentesis) through childhood (via blood draw) and adulthood (via blood draw). In fact, preimplantation genetic diagnosis has also been performed for VHL and other genetic disorders — by testing an embryo before it is even implanted into a woman’s uterus.

The philosophy for testing kids for many autosomal dominant disorders including VHL really seems to vary by institution. Our clinic’s philosophy is not averse to VHL testing in children of any age provided it is for the benefit of the child (not the parent) and is in the context of careful genetic counseling. In VHL, DNA testing can be used to determine if a child can be spared regular screening, or should be monitored more closely for possible early signs of VHL.

In regards to the age cutoff of 5 years that you mention here, we can’t think of any biological or ethical reason to use this age as a minimum.

— Gayun Chan-Smutko, M.S., and Kristen Mahoney Shannon, M.S., genetic counselors, Massachusetts General Hospital, Boston, Massachusetts.

Answer #2: My child was one of those that developed three pheos before age 5 — he was diagnosed at the age of 4, had the genetic test at the age of two. Thank goodness we did it early! And I think you wonder and worry before you ever have the test, so why put it off? My daughter also had a pheo removed at the age of 8. Yes, it’s hard at times. But I wouldn’t trade them for the world. I would have more children in a heartbeat.

Only a small percentage of very young children have tumors, but it is still worth mentioning. My kids are doing great now! And just my two cents - everybody has something, you’re just lucky to know what to look for early before it’s too much of a problem. That’s how we feel about it. It’s all in God’s hands, and he doesn’t make mistakes! Good luck to you and your family.

– Alison E., Texas

Answer #3: We had our oldest daughter tested at 3 months and with our second daughter we had cord blood taken during the delivery which was used for the DNA testing. The genetics dept at the Children’s Hospital made arrangements with the obstetrician.

– Amy B., Connecticut.

Answer #4: Testing kids, eh? I’d test right away, though the decision is personal, I understand.

Here’s why. My only child was 3 when I was diagnosed at 31 years of age (June 1987) and not very much was known about VHL, at least compared to today. There is no history of VHL anywhere in my family before me. It seems I’m a mutant, according to the geneticist I talk to. She says we’re ‘all mutants’, but some mutations are as benign as a freckle on your face that neither you mom nor your dad had. My mutation got me membership into Club VHL, where all the nicest people hang out.

My daughter had a brain tumor (exactly like mine, we have the same scar today) removed when she was 13 years old. That was in 1997. Up to that point, my "VHL doctor" told my family that there was no need to test anyone under 12 years of age. Indeed, no blood testing was available, and what could be done involved all the familiar screening. She was never tested.

When my daughter began to manifest symptoms of a brain tumor, all of her doctors dismissed the chance that she might have a tumor, despite my history. Honestly, the most brilliant people can overlook the most obvious things. Einstein forgot to tie his shoes, or so goes the story. They blamed her symptoms on allergies, puberty, migraines, etc. Finally, when she complained of double vision one day, my very alert wife took her to an ophthalmologist immediately, who confirmed the increased interocular pressure. The tumor was removed successfully the next day.

I sure wish we could have tested her a long time ago. That tumor almost killed her. Advance notice would have been good.

Life is. –Bob D., California

As printed in the VHL Family Forum 11:3, September 2003. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org.