Steven’s Journey

Beverly Angotti, chairman, Florida

Steven began complaining of dizziness in December, 2004. He seemed healthy, but the headaches became more constant.  In January we took him to the pediatrician who referred us to a series of specialists. 

Our first trip to the neurosurgeon’s office prompted more questions than answers. The only firm answers were that Steven was neither to play soccer nor drive until further notice.  Steven had a brain tumor.  The radiologist suggested that this tumor might be part of a syndrome called von Hippel-Lindau (VHL), but not all the classic symptoms were present.

The surgery proceeded without complications, but the results were surprising. Instead of a typical hard tumor, the lesions were made up of blood vesssels – structures called hemangioblastomas. That evening I began researching and learned that this was indicative of VHL.  I found the VHL Family Alliance website and began to read.

Eventually we went to see a geneticist. The genetic counselor and the geneticist reiterated that it sounded like VHL. DNA testing confirmed it: a tiny change in one gene that would put him at increased risk for tumors.  My brave and beautiful son has VHL. 

Steven is the first and only person in his family ever to have VHL.  Neither his parents, nor his brother and sister, have the alteration.  Steven is one of the many people diagnosed each year with a de novo (new) mutation in the VHL gene.  Why?  We don’t know.  But at least 20% of people with VHL are the first in their families to be affected.  Something is causing new mutations in the VHL gene.  Once this change is in the genes, it is heritable -- there is a 50% chance of passing it to a child.

VHL will be a lifelong challenge.  I do not want Steven to live an uncertain life with an incurable disease.  I want Steven to live a brave and beautiful life in spite of this disease.  With the help of the VHL Family Alliance we are learning all we can – and we need your help too.  Please give to the Cancer Research Fund of the VHL Family Alliance.  Help us cure Steven and all people with VHL and related tumors.  Help us learn what makes genes change so we can prevent cancer.

Steven created a video about his life with VHL.  His message conveys the strength and determination he and his family have brought to bear in dealing with VHL.

Beverly writes a blog about her own and Steven’s experiences.  You can write to her at us-fl@vhl.org

See Steven’s video at http://www.youtube.com/vhlfa

As printed in the VHL Family Forum 17:3, October 2009. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.