I was adopted at birth into a loving family, and always thought that was a good thing all my life. That is, until I was an adult with medical problems and needed information.

I was healthy as a horse most of my life, except a little bit asthmatic as a child. Very strong at twenty-three, I got pregnant with my daughter, and from that time I began to have problems. First I had cysts and tumors resulting in a hysterectomy before my daughter was six months old. At the time we didn’t know about VHL, and the records are now unavailable, so we’ll never know if that was related or not.

At age thirty-six I received a call from my long-lost natural sister. I was told we had some strange disease in our family. She didn’t know much about it, except that it was diagnosed through the eyes and brain. With this little piece of information I went to a major hospital in New Hampshire. "The hospital staff asked us about VHL," Fred adds, "and we had nothing to tell them." They said they saw nothing in my eyes or brain, so I went away fat, dumb, and happy.

After that everything seemed okay except for a series of symptoms that my doctor did not seem concerned about. But my husband insisted that I wasn’t right. "The doctors just weren’t taking her seriously," Fred says. "She had a number of unexplained aches and pains. They grew more serious as time went by, but the doctors told her, ‘It’s in your mind. These things you are describing come with aging,’ etc. I know Linda is not a complainer. I asked my own doctor to take a look at her, and he agreed to run a series of tests." Finally this doctor really listened to me. He found my kidneys loaded with tumors.

"Well, Linda," he reported, "we have found that your kidneys are the size of very large grapefruit, and we are sending you to a specialist immediately. And by the way, Happy Birthday." It was on my fortieth birthday that I was introduced to VHL.

The local urologist sent me to another specialist in Boston. For two years I went through a series of surgeries. Fred adds the details: "They did a radical nephrectomy within days of the original diagnosis. We were very pleased with this doctor. The right kidney they were able to approach sparingly, removing only the tumors and part of the kidney. In a few years there were more tumors to remove. With so little kidney left, Linda began needing dialysis, and now life really changed.

But after several tries at repair, God gave us a gift. The 5/16 of a kidney she had left began working more effectively, and she no longer needed dialysis! Thank you for your kindness, Lord!" I was nearly ready to give up on the last bit of kidney, when it miraculously began to work. I have been off dialysis ever since, and happy to say I am doing well.

Through all this I set myself little goals and just kept fighting to reach each little one, trying not to worry about the big ones. Things have been very good for me the last two years, though my daughter has had three surgeries. Like most people with VHL, I am happy for today and just wait for what happens tomorrow. Please God, grant us all the strength to fight back.

Being adopted complicated all of this in the beginning. It might have helped save my kidneys if I had known more about VHL and about the others in my family who had had kidney trouble. It might also have changed my mind about having children, knowing I could pass on such a disease. I have been blessed with a very strong daughter, and she handles life’s problems very well." Since 1988 when our daughter Stephanie was 17," says Fred, "we had taken her to doctor after doctor for severe headaches and numbness in her left side, to which they all said, ‘Just your average teenager with teenage problems!' Finally we found a neurologist, a great lady, and got her attention, and at last they did some testing. Our suspicions were confirmed — Stephanie had several brain and spinal tumors. It had taken two years to get a doctor to listen to our fears.""I remember the day I went for that first test," says Stephanie. "I was afraid, and my boyfriend at the time was telling me that it would be fine." My Dad went with me to my MRI. I remember being given one of those oh-so-attractive hospital gowns. The technician told me to hop up on the table and lie down. They put my head into this cage-like device and the test began. The next thing I heard through the noise of the test was the technician saying, ‘Oh, my God!’" The next day I was given the news — I had a brain tumor and would need surgery.

"That was in January 1990. It was my senior year in high school, the years which, as my parents say, are the best years of your life. Or so I thought!"

Stephanie was clear and doing well for three years, until six months after she began taking birth-control pills¹. "Since that first surgery I had another brain surgery in April 1993, and two days after I was home from the hospital I was rushed back to the hospital because my left leg was in such pain; it felt as though it had been driven over and crushed.

"Back to the trusty MRI truck² where it was discovered that I needed yet another surgery, this time on my spine.

"I have been told by several of my doctors that life as I have known it is over and I will now have restrictions and have to take life easy. Well, at the age of 21 I truly don’t see myself as the take-it-easy type. I live a very active life, and don’t let anything stop me, not even some of the pains caused by VHL."My life has changed a lot. Having VHL, I have learned so many things: how to be strong, and never give up, no matter how much it hurts.

I have also learned not to take life for granted. "I think the one and only thing that I hate, and I use that word with the strongest meaning, I hate the fact that there is nothing that will keep me from passing this on to the unborn children I would love to give birth to, but shouldn’t." Being only 21 it is a very difficult decision that I have to make — it’s one I’m just not ready to make just yet. On the one hand, I think I could have a child and raise him or her to have the outlook I have, just to accept it as a part of life and deal with it as problems come up; or is it unfair to pass something on that I know is harmful, and brings nothing but pain to someone that has no choice at all?" Something very sad from all of this — it takes something as serious as having a surgery from VHL to see the true people in my life.

I have Mom, Dad, one best friend in Florida who tries very hard to understand, and an old boyfriend who is now a great friend and has been there since day one. Anyone else that has been part of my life has been there for me until it gets rough, and I’m sick or need surgery, and then they’re gone." So far, I don’t let VHL bother me. I have it, can’t get rid of it, so why dwell on it and be negative?" I am too young and have too many goals in life just to lie down and give up."Watching my mother struggle every day with this really hurts me, one because I love her and two, I know that someday I may be in as much pain as she is, but like her, I won’t give up without a fight."I live life for me, not for VHL."

"While Stephanie was in the hospital from the spinal surgery," Fred says, "Linda and I went to a VHL meeting on Plum Island, Massachusetts. Surprise! We are not alone in this strange and perplexing condition. There are many more people than we ever imagined, all there to discuss VHL. All agreed the best advice to someone with VHL is never to lose your sense of humor. An easy piece of advice to give, but sometimes very, very difficult to follow. Strong support from family and friends does ease the burden. Only another VHL patient can truly understand the experience. As much as I watch, and participate with, and love my wife and daughter, I know I only come close to understanding."

Recently we went to the National Institutes of Health for testing -- amazingly thorough and efficient! But the most amazing thing of all was that ALL the staff in each and every department was friendly and courteous. Not once was anyone rude or belittling. Even better than that, everyone -- every doctor, every technician -- knew about VHL, was concerned, and listened. It was our first pleasant experience.with the medical profession since my diagnosis. I hope that as more is known about VHL, the doctors as well as the patients will become more comfortable with it.

1. Many report accelerated tumor activity around shifts in hormone levels. Research is being conducted at the National Institutes of Health to quantify the problem. Meanwhile, there is reason to be cautious around times of hormone shift -- adolescence, childbearing, and menopause -- and it may be wise to avoid artificial shifts in hormone levels such as birth-control pills.

2. Since there is no major hospital nearby with an MRI machine, there is a mobile MRI unit which travels around the less populous parts of New England. q

As published in the VHL Family Forum 2:2, June 1994. For permission to reprint, please contact the VHL Family Alliance at editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

mystory