Intro

I was still just a child when I was diagnosed with a very rare genetic condition called Von Hipple Lindau Syndrome, a predisposition to grow tumors on the brain, spinal cord, organs, and eyes. At the time I had no idea how much it would come to infiltrate every aspect of my life. In my case, VHL was passed down from my great-grandfather so at least doctors knew what to look for but the downside of a hereditary condition was that everyone in my paternal family had it too. This was not a functional “support group” kind of family either, this was an avoidance and shame family, so I grew up with the idea that hiding the fact that I was sick would somehow make it go away. As I am sure you can guess, this was not at all the case, in fact it only made the situation so much worse. My grandfather had already died from complications from VHL by the time I was born so the first time the syndrome really affected my life was when my father died.

I was 12 years old when my dad died. I vaguely remember him having brain surgery when I was about three or four but he came very close to death during that surgery and, apparently, that was enough to make him avoid future doctor's appointments. His death was extremely avoidable. If he had gone to get a simple MRI at any time during my childhood, it would have been very clear that his brain tumor had grown back and surgery could have saved his life. Instead, by time I was 12, he had a baseball sized brain tumor that was incredibly difficult to operate on. Inevitably, something went wrong during the surgery; what was supposed to be a two week recovery, turned into six months on a ventilator. Unable to walk or speak, my once lively father went from teaching high school astronomy to seizing whenever his hospital bed was declined. He was only 40 when he died.

Needless to say I was crushed. I felt like I had been robbed of the future I was supposed to have with my dad. At the time though, I had no idea how much worse it was actually going to get. My father was the oldest of four brothers (all of whom had VHL). His death had a profound effect on all of us, so my uncles and I banded closer together for support during this extremely difficult time. I was already fairly close to them but they became like my surrogate fathers. Then one by one they began to die. In the summer of 2005, I had just come back from vacation before my senior year of high school was supposed to start, to find that in the time I had been gone my family had completely fallen apart. My Uncle Pat was dying of kidney cancer, my Uncle Anthony was going in for brain surgery, and my grandmother was hospitalized for, what I can only assume, was sadness.

The last memory I have of Uncle Pat is of him actually screaming in pain as he died. Knowing that I had the same condition as him and that I could also meet the same fate was absolutely terrifying. Shortly after his death, my grandmother died as well. We held a joint funeral for them. Then a year later my Uncle Guy was diagnosed with kidney cancer that had metastasized to his pancreas and stomach. I watched as, over the course of three months, he lost about 100 pounds and developed a distinctly grayish hue. His transformation became so traumatic to watch that I began to silently wish he would just die; at that point, death would have been a graceful relief to him. He held on though for another month; his face becoming even more gaunt, his flesh becoming ever more darkened, his hair falling out in clumps. Finally, mercifully, he died as well.

That is how I spent my formative years, a long succession of funerals and the haunting possibly that I would meet the same gruesome end.  Although I was diagnosed at 11, I didn’t really see the worst manifestations until I was 18. At the time, it was discovered that I had eight brain tumors and three tumors on my spine. I was going to a pediatric neuro-oncology clinic at the time and it was there that I first got the news. A specialist there reviewed my scans and said “you should just enjoy the time you have left.” I was in shock, I thought I was going to die, and so I did exactly what my doctor said I should. I dropped out of my senior year of high school (I was only one class away from graduating) and went to the beach every day. I lived each day like it was my last and at night I would come home and sob quietly into my pillow because I couldn’t bear the thought of dying the same way my father and my uncles had. After about a month and a half went by and I realized I wasn’t getting any sicker; I went to a different doctor who explained that with the proper watchful eye, I would be fine. Rejuvenated, I finished high school with my graduating class and began my first year of college.

Late in my freshman year of college I began to notice that whenever I would really focus on a page in a book, the words looked slanted. I had already known about the tumor in my right eye (that is what caused my diagnoses in 1998) but it had always been very small. I had so many other things were wrong with my health at the time, in addition,  my retinal tumors had never been a problem before…I had placed my eyes on the proverbial back-burner; I found out that this was extremely unfortunate. The tumor had grown significantly and the feeder veins were now leaking fluid causing my eye pressure to build up and my right retina to detach. My doctor explained that the only thing that had the possibility of saving my vision were experimental injections of a cancer treatment drug directly into the eye, every 10 weeks until the day I die (or until a less invasive treatment was discovered). His intention was to give me the first of innumerable doses within just a few minutes of having this conversation with me. I had no time to mentally adjust, I began to hyperventilate, “needles in the eyes or blindness,” I said to myself over and over in the exam room. Luckily, he gave me no time to back out, just moments later I had the lid speculum in and then it was over. It hurt about as much as you’d expect a needle in the eye to hurt, with all the panic and terror that came along with being wide awake, watching the needle come at your eyeball and then having it puncture a hole in the sclera. As an added fun side effect, it left my eye full of blood for two weeks, so I got to look like a walking horror show wherever I went.

Dealing with the injections every few months was hard and it jangled my nerves whenever I knew that time was approaching but after a couple years I adjusted. All the other tumors seemed stable so I went about my life. I got my degree, I was thinking about grad school and then I got news that ruined my life, health, and all my future plans. A year ago I had been living on my own, working a full-time job, driving my own car, things were finally starting to come together but of course with VHL any sense of security is a false sense of security. It all started with a couple headaches. They never lasted more than a minute or two but they were incredibly intense. A headache every two or three days turned into five or six headaches a day, finally within two weeks it became 20 or 30 short but blistering headaches a day. I could no longer take the pain; it was so bad it was waking me up out of sleep. That was when it became clear to me that these were not typical headaches the average person gets and I went to the ER. After a quick brain MRI my neurosurgeon explained that a tumor in my cerebellum, though small, was causing all the surrounding brain tissue to swell and an extreme amount of pressure to build up in my skull. The pain that I was feeling was the pain of my brain being squeezed by this pressure. He said this kind of swelling was normal with my condition and if given enough time (up to a year) it would probably go down on its own. Thus began the longest three months of my life.

At first it wasn’t so bad, occasionally I was in intense pain but it was intermittent and as long as I didn’t lay down flat or bend down I wasn’t in screaming agony, I could still drive and walk around. That lasted about two weeks then the seizures started. As soon as I began seizing I could no longer drive (if I had one behind the wheel that would have been it for me). Gradually, the pain got more and more cripplingly forceful and a headache would automatically bring about a seizure. To attempt to medically bring down the swelling I needed to take steroids. There are not enough words available in the English language to describe for you how much I despised those steroids. They made me constantly hot and moody, over the three months I was on them, they made me gain 35 pounds, and they made little red bumps arise on my face, shoulders, back, and chest so it looked like I constantly had a rash or the worst case of acne imaginable. Possibly the worst side effect was that they made it impossible for me to sleep; no matter how mentally or physically exhausted I was, I could not get more than four hours of rest. I thought I might go crazy from lack of sleep or possibly overdose on sleeping medication and accidentally kill myself.

By the end of the three months, I was passing out from pain, getting nose bleeds from the pressure in my skull; I had a constant array of bruises on my knees and elbows from falling down with so many seizures. It was apparent the swelling was not going down on its own. Finally I could bear no more and I got rushed to the ER. An MRI revealed that the swelling had actually gotten much worse and some of the tissue had been deprived of the circulating cerebral-spinal fluid for so long it had died. I was in surgery the very next day.

 The tumor was about the size of a penny but was about an inch under the surface of my brain. During the surgery the doctor had to core out the dead tissue, cutting a quarter sized hole of brain matter away. The piece he removed descended down into a cone shape ending with the tumor. At the end of the procedure my brain was so swollen from the trauma of surgery and the months leading up to it that my doctor could not fit my skull flap back into its place (for the rest of my life I will have a rectangular shaped hole in my skull about two inches by one inch). I felt instant relief, the surgery had taken away the worst of the symptoms but by far the hardest thing for me to cope with was that my head was shaved. All my long brown hair was gone, I was bald, and that somehow was more traumatic than anything I had been through. I had very little time to dwell on that though before I started to feel the side effects of the surgery and the final familial loss I had been dreading.

When I came out of surgery, it seemed all was fine. I was walking, talking, even, to pass the drudgery of hours in the ICU, coloring. I spent about eight days in the ICU and seven on a regular floor and miraculously, they told me I could go home (of course with the caveat that if anything was abnormal, I needed to come right back). I was at home a grand total of one whole day before I started leaking a massive amount of spinal fluid out of the stitches on my head. I was admitted back to the hospital and I found out that my dad’s one remaining brother had died from complication due to a brain tumor. I didn’t even have time to grieve, I had just had a lumbar drain (for the leaking spinal fluid) placed in my back and told that I needed to spend at least three more weeks in the hospital. I was emotionally and physically devastated. And then, as if that weren’t enough, I slowly started to lose control of the right half of my body.

It started with tremors in my right leg that made it impossible to walk. My doctor assured me that everything had gone normally during the surgery but since the cerebellum controls coordination and the right side of it had just been cut out, I wouldn’t be able to control motion on the right side of my body. It didn’t actually occur to me until just now as I was writing this that he might have expressed this to me before my surgery so that I could have gone in with the knowledge that this was a possibility beforehand or at least not have been so terrified when it started to happen but I digress… Within a few days I could no longer control my right arm and by the time a week had passed I could no longer control the right half of my tongue (meaning that I could not speak). Without the ability to walk or talk, I thought a lot about my dad. If my tumor was only the size of a penny and his was the size of a baseball, how much pain he must have endured. How every moment of his final months must have been agony and he just couldn’t say it.

In early March of 2014 I was finally released from the hospital. I couldn’t write or say more than a few words at a time so communication was my biggest hurdle. It was at that time I agreed for my car to be sold, I didn’t think I was going to be able to drive again, I couldn’t even walk, and I needed the money because I couldn’t work. When I got home, the outpouring of love I received was immeasurable and much needed. Though I couldn’t do much, the visits from my friends and family helped lift my dismal spirits. One sunny day, I got a visit from one of my closest friends, who so happens to work as a physical therapist assistant. She took one look at me and said “you will get back to normal in no time. I’ve seen cases much worse than yours and they are completely better now.” I didn’t believe her but she was so right. Grudgingly, I went to a few physical therapy appointments and after just one week I noticed a huge difference. PT became my whole life. Every waking moment, no matter how tired my limbs were, I forced myself to walk, then walk a straight line, then walk with one foot in front of the other. Pretty soon I could walk a straight line backward and stand with my eyes closed and my arms out (harder than it sounds). Once my legs were back to normal it just became a matter of rehabilitating my arm. At first I couldn’t even hold a pen (a few times before I regained coordination, my hand, with a life of its own, would break things or drop things, even a few times whack relatives in the face) by early May my hand was fully functional. I could not only write the alphabet but I could hold scissors without fear of accidentally stabbing myself or someone else. On May 6^th 2014 I got a pass from PT and OT, I think that was the proudest day of my life, even graduation from college had not been so much work.

I still get a weird feeling sometimes when I think of how I’m the last surviving member of my family but then I think that they wouldn’t want me to dwell on it, they would want me to live a happy life. It’s in honor of them really that I always try to keep a positive attitude even when times are hard…especially when times are hard. I have seen that no matter how bleak things may look, the sun will come out again.