New Chairman for Kansas and Missouri

Barbara S.

VHL has been connected to my family since before I was born. The term was introduced to my family for the first time in 1959.

My Aunt Rae Donna lost the sight in her right eye one afternoon while at work at Hallmark Cards in Kansas City, Missouri.

She was sent for an eye examination at the University of Kansas (KU) Medical Center where several Ophthalmologists checked her. One of them threw out the name "Von Hippel" as a possibility for the cause. Because she was pregnant at the time with my cousin Rhonda, the consensus was that as soon as my Aunt delivered the baby she might regain the sight in her eye. - Wrong!

In those days eye doctors still thought that "Von Hippel's disease" affected only the eye, and "Lindau's disease" affected the central nervous system. They didn't realize it was all one syndrome. No one made the medical connection between Rae Donna's eye problem and her brother Robert, my father. Robert experienced a series of brain tumors, and kidney cancer that metastasized to his lungs, claiming his life in 1977.

Years later, my cousin Rhonda graduated from the University of Missouri at Columbia in 1980, and took a job with the University. On a routine eye examination, doctors discovered that she too had hemangiomas in one of her eyes.

An alert doctor there, Dr. Carl Ide, treated the eye with laser surgery and recommended she have further tests with endocrinologist Dr. David Gardner. Various tests showed no other medical problems. In talking to Rhonda, Dr. Gardner inquired if any other family members had any similar problems. Rhonda told him her mother (Rae Donna) had high blood pressure and many headaches. Dr. Gardner suggested that Rhonda tell her Mother to contact her family doctor about having a test to see if she might have a pheochromocytoma.

The test showed abnormal readings, suggesting that she might have this tumor of the adrenal glands. Rae Donna went to the University of Missouri to see Dr. Gardner. Von Hippel-Lindau was diagnosed, and geneticist Dr. Sandra Davenport became involved.

Dr. Davenport traced our family tree, and realized that VHL was the cause of my Father's demise. My aunt was told that in 1980 that there were only 64 cases of confirmed von Hippel-Lindau cases on record. In those days VHL was very hard to diagnose, and information about confirmed cases were not kept in an organized manner. Many families were told incorrect stories like that. Now we know that VHL affects one person in 32,000, in every ethnic group, worldwide.

Most of my knowledge and support for my own medical problems came from my aunt, uncle and cousin. Many in our family line chose to ignore the warnings about the possibility of "Von Hippel". Little was understood then about how to manage the disease.

After being diagnosed with my own case of VHL in my eyes in 1979, I spent a week in the hospital trying to recover from what happens IF you let the eye angiomas go untreated. I had a severely detached retina and needed additional surgeries to bring the disease in my eye under control. The maximum vision they were able to restore in my eye was 40%; now it is zero. This is a good example of what can and does happen if the disease is left untreated. Other than the multiple surgeries of both eyes, I have mostly remained unaffected-something I attribute to my persistence to stay on top of the disease, and also to the choices I have made to eat healthy and exercise in life.

My sister was not so fortunate. Vicky's procedures ranged from having her pancreas removed in a Whipple procedure done when she was first diagnosed with the disease in the late 1980's, multiple brain surgeries, and finally succumbing to this disease in the Fall of 2004. I know how hard this has been on all my family but mostly, my Mother.

Because of this, I have personally taken the position that it is my responsibility to fight, to manage my own health, to do whatever I can to help further the research on Von Hippel-Lindau disease, and to help others to live well with VHL while we all work for a cure. This is why I have elected to become the VHLFA chapter chair for Missouri and Kansas.

Please feel free to e-mail me or call me with your requests. My email address is us-ks@vhl.org or us-mo@vhl.org, or call the office for my telephone number. I am at your service.

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.

mystory