Wednesday, July 11, 2007

Von Hippel Lindau Disease

The facts...the reality

The Facts

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 chormosome in every single cell of his body. This area of the chromosome is called the "VHL gene." The VHL gene, in it's intact form, is a tumor suppressing gene. When the VHL gene has gone awry, tumors form. The tumors associated with von Hippel Lindau disease 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.

Von Hippel Lindau 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 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 missing college because of a brainstem tumor.

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 did not realize the enormity of "forever".

When Steven was 11
I had never thought that I'd be kissing a teary teen as he was being wheeled away for brain surgery.

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

When Steven was 13
I had no idea how to accept help.

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

When Steven was 15
I never dreamed that my child could blinded by tumors in his retinas.

When Steven turned 16
life was easy.

When Steve was 16 years and 2 months
life changed.

I learned about a rare disease. I learned of genetics and tumor growth. I heard that one day, at a young age, my son will be told that he has renal cell carcinoma, bilaterally. I learned all about hemangioblastomas, cysts, edema, and neurological symptoms. I learned of many other tumors that will afflict the body of this sweet boy. I started listening to the thunder of an MRI, too many times to count, and I began studying pictures of my son's brain. I spent long and lonely nights in ICU rooms, holding a basin and wondering how we ended up there, in both a pediatric and a full-service hospital. I watched as sutures were tugged and clipped from incisions at the back of my son's head. I learned that the odds for a long and healthy life are stacked against my oldest child.


I also know now that this diagnosis can be a catalyst for us. It can change us in ways beyond our wildest imaginations. We can learn truths that that only the privileged know. We can accept the miracle of another day, and we know that life is made of moments. We have seen that scars build character and unspeakable resolve. We've learned that the demons we face can only conquer us if we allow them. We know that bravory is our strength. We've realized that we can do things that we never dreamed possible. We know that sometimes wishes do come true and that people are tremendously kind. We see that we can only live in hope and that we have to live in faith. We know that life is what you make it. We are stronger than any gene.

We have a mission.


Jeanne said...

Blessings for Steven and thank you for visiting and leaving such kind comments.
Love Jeanne

Britt-Arnhild said...

Dearest Beverly.
Your writing is so good. You are an incredible woman, you have an incredible son.

Have you ever considered writing a book about your experiences? It could be alot of help and support to other parents.

Liz Ness said...

You story is so well written and so touching. Thanks so much for having the courage to share such an important aspect of your life and of Steven's.

Barbara said...

Dear Beverly. You don't know me but I have read alot of comments from you on Heather's Tatertot blog. My name is Barbara and I am Heather's aunt, her mother's half sister. We shared the same mother so VHL is not on my side of the family. I grew up with Heather's mom, Nancy,and I loved her dearly. She was 15 years older than me but she was the best big sister any girl could want. I cannot begin to fathom what having a child with VHL is like but I can tell you from a siblings viewpoint,it is a scary disease to watch, the headaches, the surgeries, hospital waiting rooms before Gameboys when a new color book and crayons was a treat. But, that was nothing compared to what my mother went through. she had 3 young children at home and a sick teenage daughter. There were no computers, blogs, people who knew what you were going through. She would have loved talking or blogging with you, I'm sure. God Bless you and your son and I thank you for all the new info I can get from your blog on the disease that took my sister and Heather's mother away from us way too soon. You are in my prayers. Barbara

tongue in cheek said...

Hello Beverly,

Shelley and I read your blog. My friend Shelley has a life threatening illness too. Your words echo hers.
Life makes you bolder. You and your family are brave. Awhile back you wrote that having this illness has made your family closer, made you appreicate each day more, I found that to be a truth that only a strong, faithful, loving person could do.
You amaze me.
My prayers hold you, Steven and your family.
Thank you for sharing your son's journey with us.

Anonymous said...

Holdfast to Miracles, my dear Beverly. We fight on for a cure for this insidious, horrible disease. You are brave to find the Miracles along the way. God Bless you, Steven and your entire journey on this path. I also walk the walk on a daily basis with VHL.


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