Von Hippel Lindau Disease (VHL): One Family's Genetic Nightmare
An Autosomal Dominant Genetic Condition
I was a typical high school senior looking forward to attending the homecoming ceremonies at my high school. Until this day I was an easy going sheltered band geek from rural Pennsylvania. I came home from school and dashed in the door, gathering my band uniform, shoes, outfit for the dance; all with a dozen different things on my mind. My parents were sitting at the kitchen table slouched in sadness and I could tell they had been crying. My mother had been recently selected for a week long genetic study at the National Institutes of Health in Bethesda, Maryland for a strange disease that took her mother at the age of 39. Her 29 year old baby sister was currently stricken with the disease and her doctor referred her to a national study which would eventually involve the entire extended family.
I asked my parents what was wrong. When anyone says, "sit down, we have something to tell you", it is never a good thing.
My father softly told me that my mother received her results from the genetic testing and had been diagnosed with Von Hippel- Lindau Disease but she was fortunate because her tumors were isolated to her kidneys. He explained that she would return to Bethesda within the week to have surgery to remove the cancerous portions of her kidneys. He said that the surgery would indicate if she needed further treatment such as radiation or chemotherapy and whether it was spreading to other parts of her body. Ironically, she just turned 39.
Within a matter of days the NIH (National Institutes of Health) arranged my mother's transportation back to Maryland and emergency surgery. My brother and I had to stay behind and in the silence the gravity of the situation hit us both.
Von Hippel- Lindau Disease
Von Hippel- Lindau Disease is a rare genetic abnormality that causes tumors to grow within the organs. These tumors (fluid filled sacks) are called hemangioblastomas and commonly appear in the brain, pancreas, spinal cord, skin, eyes, and kidneys. These tumors may or may not be cancerous.
Patients who have VHL need constant medical monitoring to make sure that these rampant tumors are not occurring and growing. Treatment involves removing the tumors and treating them with radiation if they are cancerous. Complications occur when the tumors become large and invade other organs or spread throughout the brain. If this happens, brain damage, deafness, and blindness can occur.
80% of VHL cases are caused due to an inherited chromosome abnormality that causes these hemangioblastomas to occur. The remaining 20% of patients experience the chromosomal abnormality during fetal development.
The most common cause of death due to this condition is brain and kidney cancer. The rates of survival vary from patient to patient and depend on the location and aggressiveness of the tumors.
What to Expect from a Genetic Disease Study
A year after my mother's surgery and kidney removal, the NIH notified all extended family members that genetic testing was being offered for Von Hippel- Lindau and they strongly encouraged my brother and I to participate. Not only were they offering free testing for the disease, they would also determine whether or not we were carriers of VHL. While I was afraid of the unknown, I agreed to partake in the study for the sake of my own children.
I arrived in Bethesda on a Sunday evening and began testing at 7:00 am Monday morning. I had a portable catheter installed which I had to wear for 48 hours. My first test involved the insertion of contrast dye into my blood stream followed by an MRI. Over the next few days I had an ultrasound on every organ in my body, cat scans, blood work, and an eye exam called an Electronystagmogram (ENG). Bright lights were directed into my eyes so the technician could view them in a transparent light. This test was the most difficult as it caused nausea and vomiting.
After the week of grueling tests, I had a consultation with the doctor and head of research of this disease at the NIH. Though I was very nervous about the results, I was assured I had no abnormalities or signs of the disease, nor would I pass it on to my own children. My brother also got the same good news.
Any one who is scheduled for a week of genetic testing should pack very comfortable, easy to remove clothing. Most of the visit will be spent in a hospital gown. Cold natured people should take sweaters or housecoats because hospitals can be very cold.
Long Term Effects of Von Hipple- Lindau and Life Today
Those with VHL and the VHL gene mutation must undergo constant medical testing to monitor the status of the disease. With each testing session, the anxiety that the disease will present itself takes hold, but it is better than not knowing.
Because the study of VHL was government funded and grants were made available for research, I am fortunate that my mother and aunt and many other relatives are alive and well today. Without these tests it would be unlikely her kidney cancer would have been detected early at such a young age.
Because of this study of a rare genetic disease, my mother has been able to attend her children's weddings, watch her grandchildren grow up- and even had a "change of life" baby who is now 19 years old.
Ironically, as I write this, I am on the verge of my 39th birthday. While there is no golden age to die, there is so much unfinished work to do and experiences to have at this stage in my life. I often think about my Grandmother whom I knew briefly and the things she didn't live long enough to experience.
Funding for Genetic Testing and Studies
Because of this government funded study, I still have my mother, aunt, uncle, and cousins and the assurance that I will not pass this terrible disease to my own children.
When George W. Bush took office in 2001, he and the Republican party immediatley ended grants and funding for this study. Many promising studies at the National Institutes of Health were abruptly ended and are not likely to be reinstated as the government now directs its resources to the war in Iraq. This lack of research and support for this disease and other cancers will deprive many Americans of innovative testing and treatment methods.
Government Funding Per Disease in 2011
Disease Researched Dollars in Millions (Rounded Up) as Reported by the NIH
Rare Diseases (VHL) $3,527
Prevention of Disease $5,929
Women's Health $3,891
Behaviorial Disorders $3,573
HIV/ AIDS $3,059
Minority Health $2,504
Heart Disease $1,236
Breast Cancer $715
Alzheimer's Disease $448
Genetic Testing $270
Sickle Cell Disease $65
Full List Available: http://report.nih.gov/categorical_spending.aspx
Where to Get More Information on Genetic Diseases:
- National Institutes of Health (NIH)
Official website of the National Institutes of Health (NIH). NIH is one of the world's foremost medical research centers. An agency of the U.S. Department of Health and Human Services, the NIH is the Federal focal point for health and medical researc