von Hippel-Lindau Syndrome (VHL)

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A warrior has been defined as a brave or experienced soldier

or fighter. Hardly seems like me. I was small growing up, and always the last

one picked for sports. I was also usually one of the kids that got picked on

first, as I most likely to cry. I was labeled “sensitive” as a child. I have

always been very in touch with my emotions and felt all things in a big way. I

know now that this stems from a deep sense of empathy. I still can’t watch horror

movies,  or even nature videos without

being troubled for days by the suffering I see other creatures endure.  When I first became aquatinted with the term

as it is used in the VHL (von Hippel -Lindau) community I was not comfortable

using it.

VHL is a rare genetic cancer syndrome that affects

approximately 1 in every 36,000 people across the globe. It is characterized by

benign and cancerous growths in up to 10 areas of the body.  In my case the brain, eyes, kidneys and

pancreas. We affectionately refer to ourselves as warriors, battling a disease

that has no cure. Diligently monitoring and hopefully removing growths before

they wreak too much havoc on our bodies.

I consider myself lucky. I was diagnosed with VHL through

genetic testing at the age of 17, and was spared the horror of having to

discover that I had VHL only after it had caused some catastrophic complication

such a blindness, metastatic cancer, or spinal cord damage. Those are the real

warriors I tell myself. I was spared the guilt of passing VHL to my only son.

Those parents display true courage. I did not have my first surgery until I was

34. There are so many with VHL with a surgical history that begins well before

they even reach adulthood. I had a highly skilled surgeon who removed the tumor

from my cerebellum within a few hours. I was back to work 5 ½ weeks later with

minimal complications.  This is hardly

deserving of the term warrior in my mind. I don’t consider myself brave. I was

terrified.

Then I remember I was also the person who provided care to

my terminal father at the age 21 due to his VHL related cancer. I remember

burying him at the age of 22, the same year I found my first brain tumor. Then

attending the funeral of my father’s identical twin less than a year later and

gazing at those ever familiar hands. Hands that I could swear were my dad’s. I

remember the sight of my sister in the ICU after her first surgery. She was

swollen, weak, and attached to so many machines. I remember putting on a brave

face despite the fact that all my instincts were telling me to close my eyes

and run. I remember smiling and telling her she was strong, even though I

wasn’t even sure if she could hear me. I remember spending my 35th

birthday in the hospital recovering from kidney surgery. Then getting the

pathology back a few days later saying what we all already knew, that the tumor

was cancerous. I remember watching my mother hold my son to a table as a nurse

drew his blood for genetic testing. I remember the helplessness I felt in that

moment as I watched him cry. How do you begin to explain to any of this to an

18-month-old?

I also look at all my accomplishments. I graduated from

college, then graduate school and became a social worker. I am a wife, a

mother, and continue to work full time. I serve on the Board of Directors for

the VHL Alliance which has allowed me to meet so many inspiring people and

learn about their stories. I am a support to my sister as she also navigates

her own life with VHL. I realize that this was all done in the backdrop of

countless MRIs, doctor’s visits, blood draws, eye exams, and other

complications that VHL has thrown my way.

Bravery has many shapes and forms. Despite all the

uncertainty and loss that comes with VHL, I continue to live my life and feel

as deeply as ever. I love fiercely. I fear intensely. At times my grief is

profound. If that is not brave in the face of VHL, I don’t know what is. After

years of self-doubt I have come to the realization that I am in fact a VHL

warrior and a tough one at that. #VHL #RareDisease

My story as a #VHLWarrior begins a mere 8 months ago when I first began having symptoms. I am a 24-year-old law student and was finishing up the fall semester when everything began. I found out that I had VHL because my right leg was becoming increasingly numb and weak. I first went to my primary care physician and he decided I needed to have an MRI. I was at school when I got the call from the doctor. He told me that the MRI showed a very large lesion in my lumbar spine and a number of other masses in my spine. It also showed a large number of lesions on my kidneys. I was in shock at the news that I was hearing. Almost immediately I broke down and cried. I was terrified because I didn’t know what was going on inside my body or what was going to happen. My life changed in a matter of seconds.

Since I live in Michigan and attend Michigan State University College of Law, I live close to the University of Michigan Hospital. I quickly got an appointment there with neurosurgery. They had me get another set of MRIs of my entire spine and brain, this time using contrast. Those MRIs showed that I had a large tumor in my thoracic spine in the T4-6 region. It also showed some other smaller tumors in my spine, including one around the C-4 area. In addition to the tumors, I had a large buildup of cerebral spinal fluid in my lumbar spine from the thoracic tumor blocking the flow of the CSF. Then in my brain, I had a number of tumors in my cerebellum, the largest being close to my brainstem. The scans also showed that I had a number of tumors in both of my kidneys. The tumors in my spine and brain were called hemangioblastomas, which are just noncancerous blobs of blood vessels. The tumors in my kidneys, however, were renal cell carcinomas.

Neurosurgery placed me with a surgeon that they believed was the best suited for my case. The spine surgery was going to be difficult because the tumor was very large and there was a good chance that I could become paralyzed. All spinal surgeries carry a risk, but I was at an increased risk due to the size and location of my tumor. We tackled the spinal tumor first on January 3, 2018. I was extremely terrified that I was going to wake up from the surgery and be paralyzed. When I woke up, the very first thing I did was attempt to move my feet and to my delight I was able to wiggle both of them. I was extremely excited and relieved. Then the recovery started, which was difficult. Due to the weakness and numbness in my right leg I had to relearn how to walk. After my two week stay in the hospital, I moved to the in-patient rehab unit to begin therapy. That week was tough, but rewarding as I got better every day. It took a total of two months of physical therapy to get back to walking normally. I still cannot run or jog, but I can walk.

The brain surgery was on April 18, 2018. After getting through the spine surgery I felt that I could get through anything. That surgery went very well despite the tumor being larger and closer to my brain stem than they had originally thought. The recovery was hard because of the pain. They entered through the back of my head and they had to cut through all the muscles that are used to hold your head up and move. It felt like when you sleep on your neck wrong and it is very stiff and hurts to move, but in every direction. I did have a CSF leak a few weeks after the surgery and had to spend another week in the ICU with a drain in my head. The leak healed on its own and there were no other complications.

My right kidney surgery was on June 18, 2018. That surgery was easy, but the recovery was hard. You don’t realize how much you use your abdominal muscles for things until they have been cut through. I also had two small tumors in my right eye shot with lasers to get rid of them.

Despite everything, I am still here and fighting. I beat the odds with the spine surgery and can still walk. I came through the other surgeries and procedures well enough that I can start getting back to “normal” life. I would say that I have grown a lot and I find joy in the little things. Things like starting to work out again, pushing myself on the treadmill to walk faster, and simply being able to be here. It is not always easy facing life-changing things such as VHL or a #RareDisease. Eight months ago I was standing at the base of the mountain looking up, knowing I had to get over it. Now, I’m standing at the top and it feels incredible. My fight will never truly be over, but I’m beginning to get the upper hand. You have to stay positive and remain confident in yourself. I’m not letting my disease control me, instead, I’m starting to control it in a sense. I won’t let it beat me down and stop me from living my life the way I want.

By Heidi, Von Hippel-Lindau syndrome, United States, March 12, 2019 Von Hippel-Lindau (“VHL”) is a #RareDisease which affects a persons ability to suppress tumor growth in certain areas of the body. The research for “VHL” may hold the cure to other types of tumor progression. Knowing about this genetic flaw helps patients with “” stay ahead of the progression of tumors by routine imaging and measures to keep close watch on tumors and treat or remove them before they get too big or spread. As a person with “” I am empowered by this knowledge and live a fairly normal life. I first had an adrenal tumor when I was in High School. This was before the “” research and knowledge base had even been published. Later in my early 40’s I had a fall while waterskiing. This led to imaging via MRI. It was early October 2008 when I learned that I had 3-4 tumors in my head. I had immediate surgery at a local hospital to rule out malignancy. The tissue was sent for analysis and revealed the genetic description which diagnosed me with Von Hippel-Lindau. My case is the first known in my family. I had 4 surgeries in that year from October 2008 to September 2009. Unfortunately, all the possible manifestations of “” are not yet know. I was one of the first to present with an inner ear tumor of the “” type. However, it took two different brain surgery attempts to address this one! The reason I am telling you this is that every person is unique and rare. When one of us can help the medical community to learn more from our unique manifestation of a rare disease, then my hope is that those patients after us will not have to undergo two of the same surgeries again or play the waiting game. You see, I was told to wait and see if I could live with the supposed “acoustic” tumor. But I pursued a second opinion because I knew in my deepest sole that this was not the answer for me. There have been more surgeries but I manage to live a pretty normal life in between. One of the valuable gems of advice I want to share with others is that you have the power to live a healthy life by eating colorful produce everyday, exercising and managing stress. I think of my daily routine as training for an athletic event so that when “” tumors need to be addressed I am fit and ready for the “event” and I will recover faster and better! I also believe healthy lifestyle may keep the growth of tumors at bay. Either way, focus your mind on the things you can affect and don’t let the negative ideas or worry gobble-up your joy and your ability to make life better for others. God Bless You, Heidi

By Heidi, Von Hippel-Lindau syndrome, United States, March 12, 2019 Von Hippel-Lindau (“VHL”) is a #RareDisease which affects a persons ability to suppress tumor growth in certain areas of the body. The research for “VHL” may hold the cure to other types of tumor progression. Knowing about this genetic flaw helps patients with “” stay ahead of the progression of tumors by routine imaging and measures to keep close watch on tumors and treat or remove them before they get too big or spread. As a person with “” I am empowered by this knowledge and live a fairly normal life. I first had an adrenal tumor when I was in High School. This was before the “” research and knowledge base had even been published. Later in my early 40’s I had a fall while waterskiing. This led to imaging via MRI. It was early October 2008 when I learned that I had 3-4 tumors in my head. I had immediate surgery at a local hospital to rule out malignancy. The tissue was sent for analysis and revealed the genetic description which diagnosed me with Von Hippel-Lindau. My case is the first known in my family. I had 4 surgeries in that year from October 2008 to September 2009. Unfortunately, all the possible manifestations of “” are not yet know. I was one of the first to present with an inner ear tumor of the “” type. However, it took two different brain surgery attempts to address this one! The reason I am telling you this is that every person is unique and rare. When one of us can help the medical community to learn more from our unique manifestation of a rare disease, then my hope is that those patients after us will not have to undergo two of the same surgeries again or play the waiting game. You see, I was told to wait and see if I could live with the supposed “acoustic” tumor. But I pursued a second opinion because I knew in my deepest sole that this was not the answer for me. There have been more surgeries but I manage to live a pretty normal life in between. One of the valuable gems of advice I want to share with others is that you have the power to live a healthy life by eating colorful produce everyday, exercising and managing stress. I think of my daily routine as training for an athletic event so that when “” tumors need to be addressed I am fit and ready for the “event” and I will recover faster and better! I also believe healthy lifestyle may keep the growth of tumors at bay. Either way, focus your mind on the things you can affect and don’t let the negative ideas or worry gobble-up your joy and your ability to make life better for others. God Bless You, Heidi