New Alabama Chapter

I am 48 years of age, one of seven children, with me being number seven and twin to number six. There are 4 boys and 3 girls in our family. I graduated High School and went into the paramedic program at the University of Alabama, Birmingham, Alabama.

I worked for Carraway Hospital in the emergency room at the time and wanted to train for the Life Saver Helicopter that was just being introduced. In my second level of paramedic training I was sent to NIH in Bethesda, Maryland, for evaluation of muscle problems. It was then that I was diagnosed with Muscular Dystrophy -- a very rare form called McArdles Disease (phosphorylase deficiency). This ended my dream of becoming a flight medic or even a paramedic. Since I could not be a paramedic, I worked as an office manager with several companies, and then started my own cleaning business approximately 8 years ago.

I have two children. My son, Patrick, is a Staff Sgt. in the Air Force in Louisiana. My daughter-in-law, Brandy, graduated from the Police Academy in June. My daughter, Candi, lives near me and helps me with my cleaning business. I have two grandsons, Justin (5) and Hunter (1), the joy of my life.

During 1971 my oldest sister, Peggy, became very ill -- brain tumor, spinal tumors, but no diagnosis. For years she has gone without a diagnosis. In 1988 my brother became ill with brain lesions and vision problems. Peg went 29 years without a diagnosis, and our brother 12 years. It was not until 2 1/2 years ago that we were told for the first time that von Hippel-Lindau was in our family.

I have always helped my sister Peg. Before her first brain surgery she lost her ability to walk and do things like she could before. The von Hippel-Lindau diagnosis was like a bomb hitting us. I researched on the internet almost night and day. I do have medical background from working in the hospitals, and doing this research made me realize that my family was hit with a condition that would be with us through eternity. That no matter what happens now, the genetic ramifications could always be there, in us, our children, our children's children, on down the line.¹

I got on the internet and researched VHL and found the home page for the VHL Family Alliance. It was a great relief to hear other people’s stories, hear them tell about their surgeries and vent their frustrations and problems, and get comfort from the other VHL members. It was like finding Heaven on-line, just to know that others knew what we were going through. Words of encouragement -- a little "how ya doing?" -- go a long way in the life of people fighting each and every day to stay well. Some may ask me, "Why don't you worry about your condition with McArdles?" I do, it is under control; I am at high risk for a lot of things, but my life with McArdles is so much simpler than what people with VHL experience.

Why I want to do the Alabama VHL Chapter? For my family. It is as pure and simple as that. I want to help my family and others to know that VHL does not have to be as severe as our family’s experience. With the proper diagnosis in the beginning you can manage and live a very useful, productive life. So, who will get the word out about VHL here in Alabama? Me. I could turn and walk away and say let someone else do it. But then I am passing the buck, so I thought about it, I prayed about it, and then I looked at my brother and sister and realized the rest of our family is at risk, and if I passed on this, then who would do it? Who would make sure that the information on VHL has gotten to the doctors in the state of Alabama? It is simple -- me. I don't want other families to go through all that our family has. The 29 years Peg spent without a diagnosis took an enormous toll on her both mentally and physically.

I will strive to do the best possible job I can, I will continue to educate myself and work hard to reach as many physicians as I can to make sure they are well informed on VHL. I don't want them to just know a little, I want them to know A LOT!

If you know anyone in Alabama who has VHL, please call the hotline for my telephone number. 1-800-767-4VHL.

1. VHL is a dominant gene, so a person with VHL has a 50/50 chance of passing the VHL alteration to a child. Each child has an equal 50/50 chance of inheriting the gene, like flipping coins. Someone in the family who does not have the VHL alteration (diagnosed through DNA testing) cannot pass VHL to a child. It does not skip generations and appear later on. If we look only at symptoms, VHL can appear to skip a generation if the person in the middle had few or no symptoms. That’s why DNA testing is the only way to clearly identify who does and who does not carry the genetic alteration in their VHL gene.

mystory

The most important thing we do, the greatest gift we can give,  is to let each other knew that we are not alone. Can you help in your own local community? Please call or write to volunteer. In the U.S.: Kathy B., Chapters Committee,  (317) 894-3909, info@vhl.org In other countries: Your country chairperson (if any), or Joyce Graff,  +1 (617) 277-5667 or info@vhl.org

As printed in the VHL Family Forum  9:3, September 2001.  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