Learning to Let Go of Worry and Fear After My Daughter's VHL Diagnosis


Dealing with tumors in tricky places was not something I imagined when I became a mother. When my daughter was 16 months old, there was a large tumor wrapped around her little neck. When she came down with the croup, the tumor caused her to gasp for air. It was a tough situation, but it ended well. Later the surgeon said the tumor came off her neck beautifully as if it were in a plastic bag.

When she was in elementary school, my fifth-grade daughter discovered a dark area in her vision. There was a large tumor on her retina. This was the first time I had heard of von Hippel-Lindau syndrome (VHL).

Eventually a genetic test would confirm she had VHL. The VHL gene is a tumor suppressor gene. In a “typical” cell, the VHL genes from mom and dad help regulate cell behavior and prevent tumor formation. Somehow, my daughter’s VHL had mutated.

When the VHL gene does not function properly, tumors can grow in up to 10 different parts of the body. This means we watch tumors, remove tumors and stay on the lookout for new tumors.

Recently I thought about my role as a mom when my niece had a beautiful baby boy and under the newborn’s picture, she commented, “I vow to protect you forever and ever.” Emotion rose up in me and my whole being agreed. It is the sacred vow of a mother to her baby.

The challenge was to protect my child from anxiety as we navigated doctors and procedures. It was hard to minimize anxiety when the doctor is looking likewise alarmed, telling you a large mass is growing where it should not.

I remember sitting in the pediatric oncologist’s waiting room. My daughter, in her school uniform, was the picture of health doing her homework, eyes down to what was going on around her. During the appointment, the well-meaning doctor launched into a detailed explanation of oncogenes and tumor-suppressor genes. He drew out diagrams and pictures, which I have kept. It took an hour. There was no need to go back. He was not a surgeon.

Treatment for VHL is often surveillance and surgery. When a tumor reaches a certain size, it is removed. My daughter is a model for researchers to understand how faulty VHL is involved in tumor growth. Already, VHL research has led to several new drugs to fight kidney cancers that include faulty VHL genes.

The author with her daughter

My daughter is now 25 years old and in charge of her own life. There are MRI scans and doctor appointments and in between, she does not want to discuss the ever-present VHL syndrome. Attempting to protect her is no longer my role to play, although I do try.

How I try is by staying up to date on what is happening in regards to VHL. The VHL Alliance has been a great support to me and many others. The Alliance is a clearinghouse of information and connections. Talking with others and listening to their stories can be a great source of hope and encouragement.

Ultimately, letting go of worry and fear is required. Many times, often at night, I feel like I am right back to square one—scared for my daughter’s life. With faith and hope, I gently remind myself that nothing good comes from fear. All of us live into an unknown future. We can hardly imagine the moments of joy and delight that await us or what will in fact threaten us the most.

We will continue to deal with tumors on a need-to basis. The VHL mutation will be a part of a much bigger story. A beautiful story that is unfolding with love and grace even as I write.

Editor’s note: This story has been published with permission from the author’s daughter.

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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.

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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). VHL is a cancer syndrome where blood vessel tumors grow and continue to grow throughout various parts of the body where blood vessels are prevalent — important parts of the body such as the brain (cerebellum), spinal cord, kidney, pancreas, inner ear, adrenal glands and of course, the eyes.

Although VHL is inherited, it treats every individual differently, even within the same family. VHL tumors can be removed but they always grow back. That’s the “beauty” of VHL. Kidney tumors can grow into cancer once their growth increases past a specific size. Brain tumors and spinal cord tumors can be removed if people experience problems that affect our quality of life. Otherwise, people with VHL may prefer not to operate and must live with tumors and cancer.

In the 1960s and ’70s, when my mother was first diagnosed with VHL, there wasn’t much knowledge about the disease. Which meant every time a brain tumor popped up, she had brain surgery. It was the many surgeries themselves that ultimately killed her. I was 6 years old when she died.

In my 20s, I was incorrectly diagnosed with polycystic kidney disease and didn’t think much of it until I had my first and only child in my 30s. It was a few years later, I was finally diagnosed with VHL.

Because my family had no real knowledge of VHL, I dubbed VHL as a killer. And I was scared. I was scared for my daughter. I was scared for me. I was scared for the future. And because I was always such a worrywart, I knew I wouldn’t be able to handle the stress of this disease. Especially when my daughter was genetically diagnosed with VHL.

Eventually, I found an organization, the VHL Alliance. They taught me about my disease and how to take care of myself. They taught when to screen, how to screen and when to operate. They know where in the world I can go to find a facility who knows about VHL and doctors who are experienced in VHL.

The VHL Alliance was not around when my mother was alive. She and my grandmother never got a chance to meet others with VHL. They never understood the disease nor did my mother’s doctors. They were utterly alone.

Because those with VHL, like me, have to deal with tumors and cancer their entire lives, including dealing with family members with VHL (brothers, sisters, mothers, fathers, uncles, aunts, daughters, sons, grandmothers, grandfathers, cousins), it can be a lot to bear. It is a heavy, never-ending weight and there is no cure.

When a VHL patient gets a brain tumor or a kidney tumor or kidney cancer (which is what I have, amongst other tumors), they have to carefully monitor these tumors. We can’t always run to the operating table. We have to deal. We have to relax and learn to live with the tumors. We have to learn to live with the fear of possible effects of our tumors. Some of us lose our eyes, lose our organs and some are even paralyzed.

Because of the reality of my tumors and the affects they could have on me and my daughter, I have learned to relax — to not freak out every time I have a new growth. I have learned to enjoy and appreciate life more. I have learned to spend each day without worrying about every little (or big) tumor. Living life with tumors and cancer has taught me to live life with less stress. It has taught me to see the good that may come, instead of the bad. For none of us will never know what may come and worrying about it is a waste of precious time.

VHL has taught me to live a Very Happy Life.

To learn more about VHL and hear other VHL patients’ stories, visit the VHL Alliance’s website.

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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 told me anymore I never asked until a few months later when he told me he had VHL. He did not go into too much detail but I did my own research on this disease called von Hippel-Lindau.

From then on he included me in all scans and told me what they found each time. He had been 19 when he found out he had VHL due to a swollen cheek. After going to the hospital for tests it was found he had tumors in his brain, kidney, and cheek. He was rushed to surgery for the brain tumor. Over the next year, the other tumors were removed as well, but this was all before I met him, so that is his story to tell.

After eight months of amazing dating I found out I was pregnant. We were both shocked and very aware that this baby had a 50:50 chance of having VHL, too. We decided not to test for VHL while I was pregnant; eight weeks after he was born he tested positive. Honestly I was devastated that he had VHL, but I realized that it could be a lot worse. He was a happy and healthy little baby boy.

We live in the UK, so the NHS funds PGD — preimplantation genetic diagnosis. We started this process straight away to try for another child. It took six months for a referral to the IVF clinic and a further three months for the probe to be made. We started the injections in August 2015. For our first round, all were affected with VHL.

We then had more bad news. Tj had another brain tumor that was growing quicker than expected, causing headaches, sickness, and he could barely stay awake. He spent a week in hospital for observation, but it remains a mystery. He was discharged, and within a few weeks, the symptoms eased off and he started to feel better again. That means back to a full working week and football on the weekends!

More great news in September 2016. Our PGD had worked; we were pregnant and at the eight-week scan baby is looking good. There had been three embryos without VHL. After a miscarriage with the first, we transferred two. One had not done what it was meant to when it was thawed but the last one had stuck! It was hard after the first miscarriage as it felt like VHL was destroying us and our lives. It gave me a huge amount of guilt that our first boy has this condition, yet I was going through all this so any other children didn’t have to. I had always wanted a big family and knowing we could not fund the treatment ourselves made me sad. This would be our last child if it all worked out.

I am now 23 weeks and things are still going well. We are looking forward to our newest spring addition. From all of this we gained huge amounts of strength. Our relationship is fortified. Somehow it was the point that made me accept VHL and that there would be bad with the good.

In the four years that we have been together Tj has not had to have any surgeries, but we know that there are sure to be some coming. His brain tumor is monitored every six months and check-ups once a year for everything else. One of the consultants once said, “You live as normal and leave the worry and treatment to us.” And that is what we do. Tj has regular check-ups and our little boy will start soon, but other than that, VHL does not stop any of us and we carry on as normal. Tj gets to travel with his job, which he loves; our little one is a thriving 3-year-old who is always laughing. In addition, I am expecting my second baby boy with the man I love.

I do not have VHL but I live with two VHL warriors. One has not yet started his battle and the other is 10 years in. I couldn’t imagine my life any other way. We appreciate every day and enjoy every minute. No matter what VHL throws at us, we will carry on this way. VHL will never control our lives.

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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 month or longer.

I remember when my brother, Brian, was diagnosed. He had a cerebellar hemangioblastoma and he too started making the long trek to Boston with my mother. My cousin also had VHL; his dad (my uncle) had it too. As a child, I don’t think I heard the term von Hippel-Lindau until my dad died on May 15th, 1980. I was 10 years old and it also happened to be my mother’s 43rd birthday. My brother, uncle and cousin have also passed away from VHL.

So where does the journey go from here? As a young adult, 19-20 years old, I would daydream about somehow being a “voice” for my dad and brother as my dad had passed away. I would picture myself coaching or giving talks about VHL. I was in college and majoring in Secondary English. I would think of ways of incorporating VHL into teaching lessons. I was not sure how I was going to spread the word about VHL but I knew I wanted to make my dad proud. However, I fell back into the mode of feeling like nothing really mattered, as I figured I would die before the age of 40. I was partaking in too much alcohol consumption and needed some “divine intervention.”

Fortunately, I met Kim, my “rock” and angel on earth. We started dating; she accepted me, my VHL and the negatives that came with it. Kim has been with me through good and bad times. Side by side, we cherished the good times and gained strength in the bad, always being grateful.

Soon I started eating healthier and working out with weights, but I hadn’t laced up a pair of shoes and run in nearly 20 years. Well, it didn’t take long for me to hit the “mill,” running for no other reason than trying to outrun what I knew was inevitable – another brain surgery. So I ran to help deal with the anger and fear. Physically, I felt stronger and mentally, I made the switch from running out of fear to facing the fear and not giving in. My fear was replaced with a new belief: a belief in myself, a belief that if I took care of my body and prepared it for battle, it would take care of me and get me through surgery.

husband and wife wearing blue hoodies and medals after running a race

It is funny how my thoughts and perhaps my dreams have brought me to where I am today. I qualified for the Boston Marathon in 2015 and I am the administrator of two media pages with a total of nearly 13,000 followers that I use as a platform to help spread awareness of VHL using the tag #VHLWARRIOR. Don’t let VHL take your dreams or your attitude from you. It has taken a lot from me and my family, but there are some things it will never conquer.

This post originally appeared on VHL Alliance.

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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, kidney and eyes treatments… you know, it’s VHL!). Please watch my story in the video as featured in the Columbia Neurosurgery website:

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