My name is Markus Jansen van Vuuren and I have Von Hippel-Lindau disease (VHL). As with many cases of VHL, my diagnosis was delayed. Although I grew up with the knowledge that my father had three brain operations to remove tumors and also laser treatment of his eyes, I did not relate my symptoms to what had happened to my father. This is probably because he had passed away of cancer of the kidneys when I was 20 years old and my symptoms only started when I was 36 years old.

My symptoms began with headaches which started as a slight pain in the forehead that shifted to the back of the head and became very intense -- feeling like my skull wanted to break open and explode! Over a period of nine months the intensity of the headaches increased, I felt dizzy, started squinting, experienced loss of balance, and -- very scary -- I also could not use my right arm. During this time the General Practitioner (GP) prescribed various types of medication for sinusitis, migraine, other pain killers, antibiotics, etc, but with no relief. Still I did not connect what was happening to me with VHL.

On the 3rd of August 2000, I went to another GP and in desperation asked for a referral to have a CAT scan done. After examining me and giving me another prescription for sinusitis (!), I was referred for the scan. The CAT scan revealed a tumor the size of a golf ball and a large cyst on my brainstem. I was referred to a neurosurgeon who requested an MRI scan which revealed another tumor of about 1cm x 0.5 cm in position T5, touching both the bottom of T4 and the top of T6 of the spinal cord. The brain tumor and cyst were removed on the 9th of August 2000 and the tumor in the spinal cord on the 2nd of October 2000. It was a frightening time for me and my family. I am happy that the operations were successful and that I am recuperated.

Later that year, DNA testing by Professor Lizette van Rensburg

Professor Lizette van Rensburg

Prof. Lizette van Rensburg

(Human Genetics, University of Pretoria) detected an altered VHL gene in my blood DNA. This information allowed testing of other members of my family to determine whether they carry the faulty VHL gene. I am currently following a screening program of annual imaging of my kidneys and a twice-yearly eye checkup, as well as MRI scans when needed, for early detection of tumors so that treatment can be carried out in a timely manner.

With the help of Dr. Van Rensburg we have published an article in a journal that is sent to all physicians in South Africa, to alert them to the signs of VHL, and most importantly to announce the formation of a VHL support group in South Africa, We are rather excited about this and hope that through the VHL-SA support group we can learn from each other, educate ourselves, the medical community and the general public about VHL. We will be affiliated with the VHL Family Alliance International, an organisation that has established an international network of family support groups.

The first meeting of VHL-South Africa will be held March 15, 2008, in Johannesburg. For additional information about the meeting, watch vhl.org/meetings. To find out more about VHL-SA and to assist with the establishment of our own support group, please contact us: Dr. Lizette van Rensburg or Markus Jansen van Vuuren at the following telephone numbers: +27(0)12- 319-2636 and +27(0)82-779-5019 respectively or email us : SouthAfrica@vhl.org

As printed in the VHL Family Forum 15:3, September 2007. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.