We’ve all heard the stories about children who heroically save a parent’s life. The three-year-old dialing 911 in the nick of time for Mom; the teen who saves his father from drowning in a boating accident; and the list goes on. My child saved my life as well. And, although the method may not be as newsworthy or heroic in scope, I can’t thank her enough—or be any prouder of her.

In the fall of 1997 the joy of my life, my perfectly healthy 22-year-old daughter, went in for a routine eye exam. That simple test raised red flags that led her to ophthalmologists, specialists and ultimately to the Mayo Clinic for more in-depth testing. She was found to have retinal cysts and tumors on both of her eyes that needed to be removed. After days of poking and prodding, it was determined that the root of her problem was a rare disease known as "von Hippel-Lindau" or VHL.

My daughter underwent surgery on one of her affected eyes, which resulted in her losing most of her vision in it. It was decided the other eye would remain untreated in the hope that the cysts would stay dormant. After the operation, she showed an amazingly positive attitude and inner strength that were contagious. Despite a total lifestyle alteration, wearing a patch for months to avoid sunlight, and other major discomforts, she made everyone around her feel sure that everything would be alright.

My daughter and her team of specialists urged me to be tested for VHL as well. At first I resisted because I’d never felt better in my life. But she was relentless, and so I agreed to take the next step. Because of my age, I was told to get an ordinary ultrasound on my kidneys. When the test results arrived, my doctor was so shaken that he couldn’t discuss them. He couldn’t even make eye contact with me. Rather, he simply read the report aloud. I remember it now as being somewhat surreal; nothing he was saying could possibly be about me…both kidneys were covered with tumors and cysts—some nearly as large as the kidneys themselves…without immediate surgery to remove my kidneys, the tumors would surely metastasize…I’d need to go on dialysis…maybe I was a good candidate for a transplant. So it was that, mere weeks after my daughter’s eye operation, I was preparing to undergo radical surgery myself.

With my daughter’s Mayo Clinic team helping by telephone, my surgeon removed one kidney, but was able to save roughly a third of the other during my nine-hour procedure. Luckily, there was no evidence of cancer in my lymph nodes and no other visible VHL lesions. The best guess was that I’d be tumor-free (and able to keep my kidney-ette) for two years on the outside, at which point the fistula I’d been prepped with would come into play for dialysis.

And, by family standards, I was extremely lucky—I had been given warning.

Cancer, it seemed, had been my family tree’s Dutch Elm disease for generations. My father had died at 43 from cancer of an unknown origin that had suddenly spread throughout his body; and his father from a brain tumor at age 55. So after receiving a clean bill of health at 40 years old, I was sure I’d beaten the hereditary hex. Then came my daughter’s eye exam. It was explained to us in painstaking detail that VHL is basically a disease that alters the tumor-suppressor gene. In effect, for people with VHL, their bodies think it’s normal to produce tumors—not stop them. Without any telling symptoms whatsoever, it causes cysts and tumors on the retinas, brain, spine, kidneys, adrenal glands and pancreas, but affects everyone differently. Undetected, it is potentially quite lethal. And, in keeping with family tradition, it’s genetic.

With the assistance of my very helpful geneticist, DNA testing was arranged, and we’ve learned that our particular version of VHL had never been detected before. We’ve also found out more about the nature of the disease. We were told that, with no other treatment available, patients frequently have several procedures to remove numerous tumors. Multiple surgeries are not only possible, but also probable for VHL patients.

Armed with my DNA results, other members of my family were urged to undergo testing as well. Most were anxious to get screened in the hopes that they could confirm whether or not they and their children had the VHL gene. By contrast, others in the family tried to convince themselves that something like VHL simply couldn’t happen to them—so why bother with blood tests? Luckily, all of my father’s siblings eventually tested negative for VHL, effectively removing the cloud of doubt for them and their families. Remarkably, my brother still refuses to undergo full DNA testing, although he has had some standard kidney and pancreatic screenings.

For the past two-and-a-half years, both my daughter and I have been on three-month schedules of ultrasounds, MRIs and other screening procedures, with annual "full-body" testing. While cysts began appearing on my kidney remnant almost immediately, they had posed no immediate danger until recently. Certain of the half-dozen cysts are starting to show potential for becoming cancerous, so we’re formulating a plan as to when it will be necessary to remove what’s left of my kidney. And, my life-saving daughter may need surgery on her other eye as the cysts we hoped would remain dormant are showing signs of growth. What may be a VHL-related spot has also recently been detected on her spine.

Learning you’re genetically responsible for your child having an affliction of this nature is devastating, and one of the most helpless feelings I’ve ever experienced. Having your child save your life from the disease you’ve passed on to her is even more numbing.

On the positive side, my daughter’s career and personal life have flourished despite the ongoing distractions VHL patients must endure. Best of all, we’ve grown closer than ever before. We’ve become kind of a built-in, 24-hour-a-day internal support group—with a deeper understanding of what lies ahead and a much stronger appreciation for each other and life itself.

As rare as this disease is, knowing we have each other is a huge comfort indeed.

Tim Nielsen is the Creative Director of a Los Angeles-based advertising agency. Nielsen relocated to Los Angeles from Nebraska, where his daughter Jill still resides.

As printed in the VHL Family Forum 8:4, December 2000. 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