Ariel’s Story 

About six years ago, I had just started high school.  My brother, Daniel, was a senior at the same school, and my sister, Shelby, was ten years old.  Daniel was in the middle of college applications, I was introduced to the woes of a bottom locker, and Shelby was happily in fifth grade.  We were a very typical family; our biggest heartbreaks were when our great-grandparents passed away.  We were close, and we had two loving parents to prove it.  However, when Shelby started complaining of seeing “black swirly things,” our lives changed forever.               

Daniel always wore glasses, so my mom took Shelby and my brother to the optometrist for a checkup.  I was home doing schoolwork when Daniel called the house.  “Shelby has a tumor in her eye.  She needs to go to another doctor.”  I thought he was joking, and I even laughed; I didn’t believe him.  How could my ten-year-old sister, the one with whom I shared a room and played Barbies with not so many years ago, have a tumor?  My mother rushed Shelby to a retinal specialist, and from there, she went to Will’s Eye Hospital In Philadelphia.  Shelby had a collection  of leaking tumors in her left eye, and they were causing her retina to detach.  She needed surgery right away, in order to save her left eye’s sight.

The formation of Shelby’s tumors were suggestive of a rare genetic disease called von Hippel-Lindau Syndrome (VHL).   A person with VHL is lacking the von Hippel-Lindau tumor suppressor gene; this gene produces a protein that helps to control cellular growth.  Without this gene, and hence, without the protein, tumors are predisposed to grow in places rich with blood vessels, like the brain, eyes, spine, pancreas, adrenal glands, and kidneys.  In the kidneys, these tumors are cancerous.  If Shelby had VHL, then she had most likely inherited it from one of my parents.  If one of my parents had VHL, then it was possible that Daniel and I could have it; the chance of passing on the disease to a child is fifty percent.

After Shelby’s suspected diagnosis, a blood test confirmed that she had VHL.  The rest of my family underwent genetic testing, and it turned out that my Mom, who was 42, also had VHL.  Even more rare, she was a new mutation; she was the first person in our family to have VHL, and none of her parents had passed it on to her.  This was so much news for my family to swallow; the only positive note was that Daniel and I had not inherited the disease, and my father did not have it, either.

The VHL diagnosis left my family with a lot of questions.  What other problems might Shelby have besides these eye tumors?  If my mom has gone 42 years not knowing she had this disease, is it really that serious?  How do we find out if there are any other problems?  Can we just wait and see until a problem crops up?   How come we never heard about this disease before?  What in the world is going on?

We did get some of the answers we wanted.  After consulting the VHL Family Alliance (VHLFA) and doing some of her own intense research, my mom consulted the National Institutes of Health (NIH) in Bethesda, MD (none of our doctors at home knew what to tell her).  Shelby and my mom were lucky enough to be accepted into a clinical study of VHL at NIH.  Every six months, they go for neurological scans.  My mom also goes for kidney and abdominal scans at the NIH, while my sister gets those done at Sloan-Kettering in New York City.  My dad and I often accompany them to provide emotional support. 

A typical visit to the NIH involves getting blood work, two brain and spine MRIs (one for my mom, one for my sister, both over an hour long), the corresponding neurological exams (can you walk in a straight line?  can you touch your finger to your nose with your eyes closed?), a 24-hour urine test for my mom (to check for catecholamines, which are secreted by tumors in the adrenal glands called pheochromocytomas), sometimes a hearing test (some VHL tumors can result in hearing loss), and an abnominal MRI or CT scan or ultrasound (depending on how long it has been from the previous abdominal scan) to check for growths in the kidneys or pancreas. 

These tests are essential for all VHL patients, not just the ones whose tumors are being tracked by renowned doctors for a clinical study.  When a tumor or problem arises, it is important to either nip that growth in the bud, or track it to see if it becomes a problem.  A growth that might be nipped in the bud is a retinal tumor; likely, doctors will want to treat this tumor before it leaks and causes the retina to detach.  Meanwhile, doctors might decide for a kidney tumor to be tracked.  For example, if there is a kidney tumor, once it reaches the size of three centimeters, it should be removed; once past this size, it has the greatest potential to metastasize.  However, the doctors have to be careful to treat each kidney carefully, to maintain its function.  For reasons such as these, it is important for VHL patients to make sure their medical team is knowledgeable about VHL.

I am now a junior in college.  Come spring, Daniel will graduate from the University of Virginia with a master’s degree in English education.  Shelby is the typical high school junior; she just took her SATs, she would rather not think about college, and she is very involved both in and out of school, in dance, singing, and theater.  She is also blind in her left eye.  Since the initial VHL diagnosis, she has had numerous eye surgeries.  I will explain some of them: photodynamic therapy to get rid of recurring tumors, vitrectomies (removal of the eye’s vitreous humor) to help treat glaucoma (a vicious complication from the many surgeries) and repair a detached retina, removal of her eye’s natural lens, cryotherapy (freezing of tumors to destroy them), and the insertion of a shunt to further help treat glaucoma.  Unfortunately, all of these surgical efforts failed to save her eye; eventually, Shelby will need this eye removed and a prosthetic put in its place.  Her eye has become so weak and damaged from the tumor and its complications, and though she feels no pain now (just occasional stings and aches), it will one day become very painful. People sometimes ask her why her eye is so red, but it is not easy to very briefly explain what has happened in the past six years. 

Shelby has not been deterred by these challenges, though; she had a starring role in our dance school’s yearly production this past spring, and she just got accepted into the National Honor Society.  I aspire to have as much charisma and strength as she does.

Some people say Shelby saved my mother’s life.  My mother went 42 years not knowing she had VHL.  After my mom went for her first set of scans, her doctors found a few brain tumors, numerous growths on her pancreas, and too many growths to count on her kidneys.  Shelby also has a few brain tumors, but thus far, nothing on her kidneys.  To this day, both my mom’s and sister’s brain tumors are being watched until they cause neurological symptoms (dizziness, nausea, difficulty with balance, etc) and need to be removed. 

When I began my senior year in high school, the doctors became concerned with one of my mother’s kidney tumors.  It was nearing three centimeters and would soon have to be taken out.  On June 6, 2006 (known as 06-06-06 by some, the supposed day of the Apocalypse), my mother underwent a laparoscopic partial nephrectomy at the NIH.  The doctors removed the offending tumor and got rid of as many of the smaller tumors as they could.  My mom came home from the hospital, back to New Jersey, after three days, just in time for my very last dance recital.  The surgery was not a piece of cake to go through, but my family could not believe how soon my mom was able to come home.  Even more shocking was that if we had never learned my mom had VHL, she would have never known she had these growing tumors on her kidneys until after the cancer had metastasized.  Truly, in spite of the difficulties, my family has been extremely lucky.

My family’s experience with VHL has changed everyone’s lives. For one thing, it brought us all closer, especially as our loved ones were taken away from us; my grandfather passed away from melanoma when I was sophomore in high school, and three years later, during my freshman year of college, my grandmother passed away.  My grandmother was very ill, and she succumbed to a combination of lupus, strokes, and kidney trouble.  I was very unhappy with how her doctors treated her, especially compared to the compassionate care my mother and sister received at the NIH. 

The following summer, when my sister officially lost vision in one eye and learned that it would have to be removed, I started to rethink my career aspirations.  I was a sophomore studying industrial engineering, but I was not entirely satisfied.   Interested in learning more about medicine, I applied to be a summer research intern at the NIH.   I wrote to one of the doctors who participated in my mother’s kidney surgery, and I was so excited and grateful when he invited me to work with him over the summer.  Through this experience, I was able to learn more about the field of medicine.  Plus, I learned a lot more about VHL, as well as other rare inherited diseases that can cause kidney cancer.  From the two months I spent at the NIH, I realized I wanted to be a doctor.  I have some time ahead of me before I reach medical school, but the path will be well worth taking.

Outside of my academics, I have been very active in VHL awareness.  When my mother and sister were first diagnosed, telling people about the disease helped me to deal with what was happening to my family.  I also thought I could change the horrors that had already occurred; if all eye doctors knew to dilate a baby’s eyes to check for signs of disease (eye disease can be indicative of all sorts of problems, not just VHL), perhaps Shelby’s eye tumors could have been treated before they ever caused such a huge problem!  I realized how powerful a tool awareness was; increased knowledge would create better care and maybe even help find a cure!  Advocacy could prevent people from being turned away from their insurance because they have a genetic disease!  Awareness would help people find others dealing with the same problem, and make the experience that much easier to swallow!  During high school, I sold VHL awareness bracelets in school, and I maintained an online website to raise funds for the VHLFA., which supports the VHL cancer research fund.

When I started college, I was introduced to the world of social networking, via Facebook.  Through online social networking, I could interact with many people, from fellow classmates to friends I had not spoken to in years!  Facebook has a Groups feature, through which people of a common interest, like TV show fans or members of a school sports team, can come together and share information.  Inspired by this idea, I created a VHL awareness group called “Spreading Awareness of Von Hippel-Lindau disease (VHL).”  I invited all of my friends to join, and I asked them to invite their friends to join, too.  To date, the group has 987 people, including people who have VHL, family members and friends of VHL patients, and people who just want to spread the word. 

I update the group’s page with relevant news articles, and I send messages to its members with awareness opportunities.  I also have listed relevant websites for learning more about VHL and where to go for clinical care and genetic testing.  I am so excited that there are 1331 members!  I never anticipated the group getting this large.  There is a corresponding group on the Myspace website. 

These groups offer the VHL community, including its advocates, an opportunity to network with each other and spread the word about the disease.  Even if an Internet user sees the group on a friend’s profile, takes a look at it, but decides not to join, that user is one more person who has heard of the disease.   With each extra person who hears of VHL, visibility is further increased, and with increased visibility, a cure comes even closer.

My goal is to get the entire country to know what VHL is, not just the people who have it and their family, friends, and medical support team.  It is not easy to get people to care about something or donate to a cause that they have never heard about, especially if it does not readily affect them.  Plus, it tears at my heart to know that because so few doctors fully understand VHL, there are many VHL patients who cannot receive excellent care.  

My mother and sister go to NIH next week for their next round of testing.  They are lucky to be under the care of very cognizant doctors; I wish everyone was so lucky.  We all hope for the best, and whatever happens, we realize how fortunate we are to have each other.

As printed in the VHL Family Forum 17:2, May 2009. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

my story