What It Was Like Growing Up Affected by Von Hippel-Lindau Syndrome


Von Hippel-Lindau syndrome (VHL) is a disease caused by a genetic mutation of the VHL gene. The VHL gene is involved in many other forms of cancer; it controls the major feeding pipeline to every tumor cell. The disease causes the development of multiple tumors in a number of sites throughout a patient’s lifetime, from early childhood through adulthood. Sites at risk include kidney, retina, spinal cord, brain, pancreas, adrenal gland, ovaries, lung, liver, and inner ear.

VHL has been affecting my life from as long as I can remember. My mother was diagnosed with VHL at an early age; she was constantly in and out of the hospital from brain surgeries, kidney surgeries, and was blind in one eye. Due to VHL, she was told she could not have any children but sure enough, she had me!

Growing up my mother did absolutely everything she could with me knowing that VHL would soon take over. I really did not understand anything that was going on, I was simply too young. My family never really explained to me what was going on because they did not want me to worry. As years went by seeing her in and out of the hospital I started to read about VHL and it freaked me out, so I just ignored it. My senior year in high school is when this disease started affecting her the worst; she went into a coma for a few months, and we were unsure if she would even pull through. It really took a toll on me that year; I would hardly go to school, showing up only for the classes that I needed in order to graduate. Thankfully, they understood my situation and allowed me to finish with night school. My mom really wanted to watch me graduate high school, and sure enough, she made it to see one of the most important days of my life.

A few months later, both her kidneys were removed and she was put on dialysis, which had to be done three times a week. All of this put a huge toll on her body leaving her incapable of doing almost everything. It was a struggle each day for my family and me. She seemed to be in and out of the hospital every week, not knowing what the outcome would be. We received calls quite a few times saying that the family needed to come in to say our last goodbyes, but she somehow continued to pull through. Everyone would say, “Carole, stop scaring us like that!” She would just smile and laugh. She always had the best attitude towards everything.

Throughout all of my mother’s years of sickness, my stepdad never once left her side. I have seen their difficulties, but most importantly, the love he had for her. He had so much patience for years and years, he was my mom’s caregiver and supporter. My stepdad is a wonderful man and we are so incredibly lucky to have him in our lives. They both taught me so much over the years.

Knowing that VHL is genetic, I had to get regular checkups. Each year I got my eyes, ears, and abdomen screened to make sure I did not show any signs of VHL. Luckily, I did not! As a result, my mom thought I did not have it, so I eventually stopped getting screenings. Unfortunately, I had no idea how important it actually was to continue these screenings.

After a few years into this never-ending battle with my mom, I found out I was pregnant. About two months into my pregnancy, I got extremely sick and ended up in the emergency room. They did an ultra sound to make sure the baby was OK but found cysts on my pancreas. I then had to set up an appointment with endocrinology. When arriving to the hospital that day I did not think it would be too serious. My doctor sent me to get my brain, spine, kidneys, and eyes checked. It turned out that I had one tumor on my cerebellum and one retinal tumor in my left eye. At this point, I decided to go to a genetic counselor to get a conclusive diagnosis. Because of my VHL diagnosis, I was considered a high-risk pregnancy and closely monitored.

A couple months later, my younger cousin found out he also has VHL and would having surgery for a brain tumor. He and I support each other and encourage each other to get our screenings, to make sure we stay as healthy as we can.

When my son, Hunter James was born, we immediately took him to meet his grandmother. She was the happiest we had seen her months. Unfortunately, that was not long lived. Three months later, my mom decided she wanted to stop dialysis and the ventilator, which would shortly result in her death. This time, we really were gathering to say our final goodbyes. This had to be the toughest day of my life. Of course, she was in good spirits, cracking jokes to all of us. She never lost her sense of humor! The last words she said to me was that I better finish school and I had better tell Hunter all about her! The next day my stepdad went up to the hospital and sat with her until she passed away.

After delivering Hunter, I completed further screenings so they could see if anything had popped up during my pregnancy. Once again, I was back in that MRI machine for hours at a time, which revealed two brain tumors on my cerebellum and two in my kidney.

We decided that we were going to get Hunter genetically tested. After waiting for what seems like a decade to get these results back, we found out that Hunter does have VHL. Thankfully, the genetic team was reassuring of the process we would have to follow for Hunter.

Three months after Hunter was diagnosed, I found out I was pregnant yet again. Landon was born in November 2014. We have yet to get him tested for VHL. I’m not sure if I am prepared to hear the outcome, but I know it is something we have to do. Whether it is good news or bad news, I will be just fine. After all that I have gone through, I think I can take on anything. That is why we call ourselves #VHLWarriors!

It is very scary not knowing what can happen in the future. We have learned to take it one step at a time. Everyone has bumps in the road of life; my road just happens to be a little bumpier at times. I try to stay positive towards every situation and put people in my life that will help me on my journey.

We want to hear your story. Become a Mighty contributor here.

Thinkstock photo by Mike Watson Images


Find this story helpful? Share it with someone you care about.


Related to von Hippel-Lindau Syndrome (VHL)

A young woman with a shoulderbag is standing on a bridge and is admiring the sunrise over the London skyline

How Von Hippel-Lindau Syndrome Taught Me to Worry Less

I was always a high-strung, fretting, nervous wreck of a worrier. I always found a way to see the bad that could happen in every situation. Murphy was my cousin and I lived by his law. My mother died at the very young age of 27 from a very rare disease called von Hippel-Lindau syndrome (VHL). [...]
heidi leone and son holding a marshmallow

My Journey as a Wife and Mom of Von Hippel-Lindau Syndrome Warriors

My journey with von Hippel-Lindau syndrome (VHL) started in 2012 when I met TJ, and shortly after, we started dating. I was in my final year of university and things were great. Not long after we got together, I noticed a scar on his side which he joked about being a shark bite. He never [...]
husband and wife wearing blue hoodies and medals after running a race

Why I Run as a Von Hippel-Lindau Syndrome Warrior

My name is Shawn I am a VHL warrior! My journey started long before I was diagnosed with VHL, or von Hippel-Lindau syndrome. My father had VHL and I remember he and my mother traveling to Boston, MA from our rural town in northeastern Pennsylvania for brain surgeries. They would often be gone for a [...]
manuel greco

What It's Like Living With Von Hippel-Lindau Syndrome

My name is Manuel and I have von Hippel-Lindau syndrome (VHL). In my case, it’s pretty bad in the brain. No matter how hard I wish for it to stop developing tumors, every time I have a surgery they keep on coming back. So far I already had 15 brain surgeries (and yes, also spinal, [...]