Ask the Family: Affected Children

Question: I have a daughter who will soon be five years old. This afternoon I received her test results, and she tested positive for VHL.

Is there anybody with children of the same age?

I have the VHL Handbook, but I'm having a hard time dealing with this information emotionally. It's a great shock for me at the moment. I hope I get over it soon. I know how hard it can be to live with VHL, and now that I know my daughter has it, it seems even more difficult.
- Nathalie D., Europe

Response: I can imagine what you must be feeling right now. My father has VHL, and so do I. My son was tested two weeks after birth and I learned in a phone call a few weeks later that he had tested positive for VHL.

All I can say is: Hang in there. The initial shock will wear off! Arm yourself with knowledge, as you are seeking to do. My son is almost 9 now and thank God, has yet to show any signs of VHL problems.

Remember, testing positive for the VHL gene is not a guarantee of problems, it just means you need to be more diligent and watch for a problem so it can be managed early.

My son sees a retina specialist yearly, to check for hemangiomas, has a blood test yearly to check for catecholamines (a screening for pheocromocytoma). He also has a yearly abdominal ultrasound. For now, my doctors in Boston at the VHL clinic say this is sufficient. In a few years we will do the first MRI. I print out copies of the Handbook from http://www.vhl.org/handbook, keep a copy for myself, and give one to each of my child's doctors. The screening advice is there and it's a great place to start. I will also add, if your doctors don't feel the screening is needed (something I have run into with doctors not familiar with VHL) -- then take your handbook, and consult another doctor.

I would also recommend consulting a genetic counselor about talking to your child regarding VHL and the screenings you are putting your child through. For my son at age 9, we haven't had the talk about VHL (by my choice -- that will come later). For now, I have decided on a more age-appropriate explanation about why we have the screenings.

I tell him there is a family history, and that we are "making sure nothing is wrong, but being able to take care of it when and if something does happen".) I feel it's important to be honest, but not overwhelming with information.

I hope that helps. Feel free to write to the online support group, or to the VHL Family Alliance (info@vhl.org), or call 1-800-767-4845 or 1-617-277-5667. - Maria L., Maine

As printed in the VHL Family Forum 13:2, August/September 2005. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.