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The Facts Versus the Reality of Von Hippel-Lindau Syndrome

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The Facts:

Von Hippel-Lindau syndrome (VHL) is a genetic cancer syndrome. A person with VHL has a mutation in a very specific spot on the short arm of the third chromosome in every single cell of his body. This area of the chromosome is called the “VHL gene.” The VHL gene, in its intact form, is a tumor suppressing gene. When the VHL gene has gone awry, tumors form. The tumors associated with von Hippel-Lindau syndrome occur in the brain and spinal cord, the retinas, the kidneys, the pancreas and the adrenal glands. Sometimes the tumors are benign, sometimes they are malignant.

The whole genetics behind this disease is really much more complicated than this, with mention of proteins, elonginsB and C and VEGF, and there are many resources out there that do much better job explaining tumor formation than I ever could.

The bottom line is that VHL is a life-threatening genetic cancer illness without a cure.

Bottom line.

The Reality:

The reality of this disease, for us, is that one day our lives changed… forever.

When my son Steven was just a baby
I never imagined that I would be holding a basin for him in an ICU room because brain surgery tends to make you vomit…a lot.

When Steven was just 1
I never thought that one day, at a young age, he would have a cancer diagnosis, and that the diagnosis would never leave.

When Steven was only 2
I didn’t realize that doctors don’t have answers for everything.

When Steven was 3
I didn’t know how many stitches it took to sew up an incision in the back of a head.

When Steven was 4
I had never received a call from a doctor in the evening.

When Steven was only 5
I had never checked hourly for bleeding from the removal of a line in the femoral artery.

When Steven was 6
I never worried about Steven losing insurance because an illness might make it impossible for him to work.

When Steven was 7
I didn’t know what an MRI sounded like.

When Steven was 8
I had never faced my child’s mortality.

When Steven was 9
I didn’t know that a post-surgical ICU patient had a distinct smell.

When Steven was 10
I had never contemplated the enormity of “forever.”

When Steven was 11
I had never fed a person pureed food through a tube inserted into his stomach because surgery to remove a brain stem tumor ruined his ability to swallow. I didn’t even know that could happen.

When Steven was 12
I had never seen how brave and courageous my son could be.

When Steven was 13
I had never seen hydrocephalus up close and personal.

When Steven was 14
I had never been to a pediatric hospital.

When Steven was 15
I had never cried over an MRI.

When Steven turned 16
life was easy.

When Steve was 16 years and 2 months
life changed.

I quickly learned about a rare genetic cancer syndrome. I read voraciously about proteins, tumor inhibitors, and angiomatosis. I studied MRI pictures of my sweet son’s brain, and meticulously kept records of radiology reports. I spent a long and lonely night in the ICU, stroking my sweet son’s hand so that he would calm from a ventilator induced panic, wondering how we ended up in that place. I learned that the odds of a long and healthy life were stacked against my oldest child.


I also know that this disease has change us in ways beyond our wildest imaginations. We know truths that that only the privileged know. We accept the miracle of another day, and we know that life is made of moments. We have seen scars that can build unspeakable resolve. We’ve learned that the demons we face can only conquer us if we allow them. We know that courage is our strength. We have learned hope. We know that life is what you make it.

We are stronger than any gene.

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Thinkstock photo by vitapix

Originally published: June 20, 2017
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