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My VHL Journey

by Renee S.

I think most of my friends are aware of my struggle with von Hippel-Lindau disorder (Disease? Syndrome? I never know what to call it!). I was nine when I had my first tumor and the affected adrenal gland removed. Four years later, I lost my remaining adrenal gland to another tumor. I have had to take steroid replacement therapy ever since.

At age 22, I had two more tumors removed from my abdomen. At age 25, an ophthalmologist found three small tumors in my eyes and I began what has been (to date) a 22 year-long battle to preserve my vision.

At age 27, while pregnant with my son Noah, I was finally diagnosed with VHL. There was a name for what I had previously thought was just a series of bad-luck tumors. Von Hippel-Lindau. VHL. A genetic disorder that causes tumors to grow. Although it is a genetic disorder, and my biological children would stand a 50/50 chance of inheriting it, it was a sporadic mutation that gave it to me. I was the first in my family to have VHL.

Less than a year after my own diagnosis, our baby boy Noah was also diagnosed, via a blood test, with VHL. It was the worst news I had ever received. Geoff and I were heartbroken. But I only had to look at our little Noah to know in my heart that he was perfect. Perfect. VHL and all. I had no regrets. We were already pregnant with Michael when we received Noah’s test results. Thankfully, Michael was born free of VHL. He doesn’t have it. We decided that despite our desire to have a large family, we would not ever get pregnant again. We could not risk my health with another pregnancy when we already had two babies to care for. Years later, we would be blessed with other children through fostering and adoption. I am happy to say I did get the big family I wanted.

At age 30, the source of my crippling back pain was finally diagnosed. Two tumors on my spinal cord caused me to have two back surgeries, one year apart. I currently have numerous tumors on my spinal cord. They are small, sprinkled like salt and pepper all along my spinal cord. According to the radiologists that read my yearly MRIs, these tumors are too numerous to count. If they grow they could paralyze me. The largest of these tumors is at C1-3 on my spinal cord. That tumor in particular is in a tricky location. If it grows I could be left quadriplegic, using a ventilator to breathe. A terrifying proposition.

Over the years my battle with retinal tumors progressed. I had laser surgery over and over again to kill the tiny tumors that sprouted in my eyes. Thankfully these tumors were in the periphery of my retina, away from the precious optic nerve, and with careful monitoring they rarely had a chance to grow or develop. I had photodynamic therapy (PDT). Avastin injections into my eyes. Cryotherapy. Radiation. Surgery. And more laser in between. Over and over and over again.

By age 40, new eye tumors were growing beside and around my optic nerves. In both eyes. This was terrible news. There was no treatment. Nothing. Not Laser. Not PDT (photodynamic therapy). Not cryotherapy. Not Avastin. Not radiation. Not surgery. Any and all of these options would kill the optic nerves as they killed the tumors. I would be blind. All we could do was watch these tumors. They were blessedly slow growing and changes in size were minute each time we checked.

Still, my eyesight slowly deteriorated. The month I turned 45 years old I stopped driving. It wasn’t safe. My vision is fragmented. I have too many blind spots. I could miss something. I could hurt someone. I gave up my independence. Of all the things VHL has done to me, this one hurt the most. I cannot even begin to explain how much I yearn to drive. I want that back.

As a result of the effects of my VHL, I cannot feel much of my left leg and foot. I cannot stand on my toes. I cannot pee without a catheter. I cannot distinguish similar colors. I cannot recognize people when I see them unexpectedly. I cannot read subtitles or signs at a glance. I have given up driving and bike riding and skating and skiing and tap dancing and running. My eyes look in different directions. I find reading novels too difficult. I can’t see the puck when I watch hockey; can’t see the ball when I watch baseball.

I started a new experimental treatment in January of this year. I had hoped the monthly injections would kill the tumors on my optic nerves and restore my vision. After five treatments, there has been no change. The tumors are unfazed by these new drugs. It isn’t working.

VHL is a terrible disease. It takes pieces of you. Bit by bit I am losing pieces of myself. Both literally and figuratively. However… I am not beaten. I refuse to just give up and let go of even one more fragment of myself without a fight.

So I am going to try cannabis. Medical Marijuana. With the support of my doctors, I am going to do my own experimental therapy. There are research articles and anecdotal evidence all over the internet. It looks way more promising than anything I’ve tried yet. But… There isn’t anyone to tell me how to do it. How much or what kind or how often… I don’t know.

But I am going to do this thing.

I’m going to tell you all about my new adventures with medical marijuana. Buckle up. This might be a rough ride.

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