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A Patient's Perspective
en français
When I was finally diagnosed with VHL [in 1988], I had already had an EMG [electromyogram], 8 weeks of chiropractic treatments, countless CT’s, MRI’s, a myelogram, [1] an angiogram, and extensive spinal cord surgery. A hemangioblastoma and the associated cyst (a jelly-like substance causing a “sausage” in my spinal column, according to the neurosurgeon [2]) had been surgically removed and sent to pathology.
The doctor told me, “Ms. Johnson, you have a genetic disease called von Hippel-Lindau. You will need to have your eyes and kidneys looked at as well.” All the time I’m wondering what he is talking about. Where could this have come from? While I felt devastated by the news then, I have since realized how very lucky I was: My surgeon knew enough about VHL to look beyond my spinal cord. I had a retinal examination, and a small angioma was found and treated. Eventually I had a craniotomy to remove a hemangioblastoma from my cerebellum. Family tree
So many people with VHL go for decades without knowing what is wrong with them. I have talked with many who have had a number of different manifestations of VHL throughout their lives, never knowing that all these things were related to one disease.
My grandfather suffered severe headaches. One day he came home from work, lay down, and never got up again. That was about 1939. My father had several brain surgeries in the early 1960’s. My siblings and I watched him taken away by ambulance in 1966 for a surgery from which he never recovered. Three years later, my 19-year-old brother died in the hospital after his second brain surgery.
Three generations, undiagnosed. At the time of my brother’s death in 1969, doctors told my mother there was a tumor condition in our family, found only in males. We now know that it affects females equally. Not knowing anything about genetics, my three sisters and I felt there was no need to worry. It was nearly 20 years before there were any other VHL manifestations. During my sister KJ’s first pregnancy, she had vision problems. Her doctor told her she had a bleed as a result of high blood pressure. The only treatment she received was blood pressure medication. I know now that it is unusual for an ophthalmologist not to recognize VHL when he or she sees it. I have talked to many VHL patients, newly diagnosed by their eye doctor.
When my back pain started, it was so severe I had difficulty walking. When the VHL diagnosis came, we were finally able to make the pieces fit. We had an answer.
We have since learned that, among the sisters, only KJ and I have VHL. She has had two kidney surgeries and a craniotomy and is blind in her eye that did not receive any treatment. She has two children, both of whom have VHL. Her son Keith has had a craniotomy, but so far her daughter is symptom-free. I have had four spinal cord surgeries. My sister’s first kidney surgery resulted in removal of her kidney. There is obviously lots more research needed to figure out just what role your environment, lifestyle, and actual genetic mutation play in which manifestations you will have. Right now, we just work on the assumption that if you have VHL, you are at risk for any or all possible manifestations.
A Way of Life
VHL is a familial cancer, an autosomal dominant genetic condition. A parent has a 50% chance of passing the VHL mutation on to his or her children. VHL is family-related in that it is passed on to you by one of your parents. But it is family-related in another sense: your family can pull you through those crises that are bound to pop up from time to time. My husband, mother, sisters, other family members, and friends were there for me. I could not have made it through without them. I spent about 3 months in the hospital with my first hospitalization. I had visitors every day. I had home-cooked food on a regular basis, and my room was filled with reminders of home. All this went extraordinarily far to ensure my survival.
Now, routine screening is a way of life for me: annual MRI’s, CT scans and eye exams. It is so important to find the tumors early so that treatment, if necessary, is provided early. I believe that had I had early diagnosis and treatment, I would not be a wheelchair user right now.
Because VHL is such an unusual disorder, patients have to be their own advocates. At the VHL Family Alliance, we encourage people to join a support/education group. Patients can offer each other invaluable information that can help them avoid repeating the same mistakes all over again. When I first learned I had VHL, I felt very alone. Now, I’ve met others with my condition. I know what to look and listen for. I’m active in the support group for VHL, and I have met many other health-care professionals who have the interest of VHL patients at heart.
While VHL is a serious disease, it does not mean your life is over. You learn how to deal with the bumps in the road VHL is to cause; you get over them and go on with your life until the next bump. Notes: Altheada L. Johnson serves as New York Chapter Chair of the VHL Family Alliance, Chairman of the Hotline Committee, and Secretary of the Board. She can be reached at altheada@vhl.org. This article was published in Community Oncology, 2004 1(4):241 Reprinted with permission.
1. A myelogram is an x-ray test of the spinal cord with contrast. Before CT and MRI were widely available, this was the best test to look for areas of compression. Today MRI’s are more often used for this purpose. Similarly, an angiogram maps the vessels of other tissues. 2. A cyst is a fluid-filled sac, like a balloon filled with fluid. When a cyst occurs in the spinal cord, it is constrained by the bony spinal column, so it spreads out long like a sausage within the spinal column, compressing the cord.
As printed in the VHL Family Forum 13:4, December 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 |
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