Von Hippel Lindau Disease (VHL): One Family's Genetic Nightmare - Patient's Lounge - Patient Medical Experiences
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Von Hippel Lindau Disease (VHL): One Family's Genetic Nightmare

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My mother and I when I was 2

My mother and I when I was 2

An Autosomal Dominant Genetic Condition

I was a typical high school senior looking forward to attending the homecoming ceremonies at my high school. Until this day I was an easy-going sheltered band geek from rural Pennsylvania. I came home from school and dashed in the door, gathering my band uniform, shoes, outfit for the dance; all with a dozen different things on my mind.

My parents were sitting at the kitchen table slouched in sadness and I could tell they had been crying. My mother had been recently selected for a week-long genetic study at the National Institutes of Health in Bethesda, Maryland for a strange disease that took her mother at the age of 39. Her 29-year-old baby sister was currently stricken with the disease and her doctor referred her to a national study that would eventually involve the entire extended family.

I asked my parents what was wrong. When anyone says, "sit down, we have something to tell you", it is never a good thing.

My father softly told me that my mother received her results from the genetic testing and had been diagnosed with Von Hippel- Lindau Disease but she was fortunate because her tumors were isolated to her kidneys. He explained that she would return to Bethesda within the week to have surgery to remove the cancerous portions of her kidneys. He said that the surgery would indicate if she needed further treatment such as radiation or chemotherapy and whether it was spreading to other parts of her body. Ironically, she just turned 39.

Within a matter of days, the NIH (National Institutes of Health) arranged my mother's transportation back to Maryland and emergency surgery. My brother and I had to stay behind and in the silence, the gravity of the situation hit us both.

Von Hippel-Lindau Disease

Von Hippel- Lindau Disease is a rare genetic abnormality that causes tumors to grow within the organs. These tumors (fluid-filled sacks) are called hemangioblastomas and commonly appear in the brain, pancreas, spinal cord, skin, eyes, and kidneys. These tumors may or may not be cancerous.

Patients who have VHL need constant medical monitoring to make sure that these rampant tumors are not occurring and growing. Treatment involves removing the tumors and treating them with radiation if they are cancerous. Complications occur when the tumors become large and invade other organs or spread throughout the brain. If this happens, brain damage, deafness, and blindness can occur.

80% of VHL cases are caused due to an inherited chromosome abnormality that causes these hemangioblastomas to occur. The remaining 20% of patients experience chromosomal abnormality during fetal development.

The most common cause of death due to this condition is brain and kidney cancer. The rates of survival vary from patient to patient and depend on the location and aggressiveness of the tumors.

An MRI machine

An MRI machine

What to Expect From a Genetic Disease Study

A year after my mother's surgery and kidney removal, the NIH notified all extended family members that genetic testing was being offered for Von Hippel- Lindau and they strongly encouraged my brother and me to participate. Not only were they offering free testing for the disease, but they would also determine whether or not we were carriers of VHL. While I was afraid of the unknown, I agreed to partake in the study for the sake of my own children.

I arrived in Bethesda on a Sunday evening and began testing at 7:00 am Monday morning. I had a portable catheter installed which I had to wear for 48 hours. My first test involved the insertion of contrast dye into my bloodstream followed by an MRI.

Over the next few days, I had an ultrasound on every organ in my body, cat scans, blood work, and an eye exam called an Electronystagmogram (ENG). Bright lights were directed into my eyes so the technician could view them in a transparent light. This test was the most difficult as it caused nausea and vomiting.

After the week of grueling tests, I had a consultation with the doctor and head of research of this disease at the NIH. Though I was very nervous about the results, I was assured I had no abnormalities or signs of the disease, nor would I pass it on to my own children. My brother also got the same good news.

Anyone who is scheduled for a week of genetic testing should pack very comfortable, easy to remove clothing. Most of the visit will be spent in a hospital gown. Cold natured people should take sweaters or housecoats because hospitals can be very cold.

My mother and her baby sister today. Both survivors of VHL.

My mother and her baby sister today. Both survivors of VHL.

Long-Term Effects of Von Hipple- Lindau and Life Today

Those with VHL and the VHL gene mutation must undergo constant medical testing to monitor the status of the disease. With each testing session, the anxiety that the disease will present itself takes hold, but it is better than not knowing.

Because the study of VHL was government-funded and grants were made available for research, I am fortunate that my mother and aunt and many other relatives are alive and well today. Without these tests, it would be unlikely her kidney cancer would have been detected early at such a young age.

Because of this study of a rare genetic disease, my mother has been able to attend her children's weddings, watch her grandchildren grow up- and even had a "change of life" baby who is now 19 years old.

Ironically, as I write this, I am on the verge of my 39th birthday. While there is no golden age to die, there is so much unfinished work to do and experiences to have at this stage in my life. I often think about my Grandmother whom I knew briefly and the things she didn't live long enough to experience.

President Bush briefed on VHL, Kidney Cancer, and Genetic Discrimination at NIH in 2002. Shortly after this meeting funding was reduced.

President Bush briefed on VHL, Kidney Cancer, and Genetic Discrimination at NIH in 2002. Shortly after this meeting funding was reduced.

Funding for Genetic Testing and Studies

Because of this government-funded study, I still have my mother, aunt, uncle, and cousins and the assurance that I will not pass this terrible disease to my own children.

When George W. Bush took office in 2001, he and the Republican party immediately ended grants and funding for this study. Many promising studies at the National Institutes of Health were abruptly ended and are not likely to be reinstated as the government now directs its resources to the war in Iraq. This lack of research and support for this disease and other cancers will deprive many Americans of innovative testing and treatment methods.

The National Institute of Health in Bethesda, Maryland

The National Institute of Health in Bethesda, Maryland

Where to Get More Information on Genetic Diseases:

  • http://www.vhl.org/
  • National Institutes of Health (NIH)
    Official website of the National Institutes of Health (NIH). NIH is one of the world's foremost medical research centers. An agency of the U.S. Department of Health and Human Services, the NIH is the Federal focal point for health and medical researc

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

Comments

Boo McCourt from Washington MI on April 15, 2014:

Excellent written hub Tammy. I was not aware of Von Hippel Lindau before reading your hub. I am glad the results turned out well for you. This hub really brings the disease to light. thank you for sharing the information.

las81071 on June 24, 2013:

I I have never heard of this condition before. Thank you for sharing your story and informing others of this horrible disorder. I am glad your family is ok and you have been blessed with information to help the next generation. My daughter has Vater Syndrome and we went through a lot of genetic testing. It appears that her condition is not genetic but my step daughter's doctor wanted testing for her and the baby when she was pregnant just to be be on the safe side. Luckily my little grandson is perfectly healthy. God Bless you and your family. Thank you for sharing with us.

Vespa Woolf from Peru, South America on June 23, 2013:

How wonderful that government-funded testing is available to diagnose and treat Von Hippel Lindau disease. I've heard of it but don't know anyone close who has been affected by it. I'm so glad your mother was treated successfully and that you and your brother are free of the disease. Thank you for sharing your experience with us! I'm sure it will help others who have to deal with this terrible disease. Voted up and shared.

Tammy (author) from North Carolina on April 22, 2013:

Justin, I check Hubpages once a week. If you left a comment, I apologize if I didn't see it.

Tammy (author) from North Carolina on April 22, 2013:

I love your screen name Flourish Anyway. Thanks so much for stopping by!

Justin from Bakersfield, California on April 21, 2013:

So, did my last comment not make the cut? Chose to deny it? I'm just providing a sliver of an alternate opinion. Please allow my comments. It is important to hear from everyone on this. I hope you are well, and I hope that you will let my comment through and reply to it. As I am writing this now I reread everything to this point and I can see it coming off as antagonistic, but please believe that is not my intent. Just information sharing. Thank you. I hope you are well.

FlourishAnyway from USA on April 20, 2013:

Well written hub on an important issue with personal implications. Thanks for sharing your story and for giving policy changes a personal glimpse. It's important to see the human side of decisions. Wishing you all the best.

Justin W on March 22, 2013:

Whoa, I was with you until that totally unnecessary and misleading heading about funding under which you were less than accurate and obviously either not entirely informed or purposefully posting a "source" that suits your agenda. Also, the link is dead. It appears that this was posted 9 months ago. I would like to know what was announced under that link, and whether it actually took effect. Announcing something doesn't make it so. Obama announced in 2008 he'd close Guantanamo in a year and cut the budget deficit in half. I still wish you the best, and will pray for you and your family, but the last bit did nothing to further your story. Why bring it up other than to bash Bush and republicans? Or do you just admit there is no other reason for it?

Tammy (author) from North Carolina on February 05, 2013:

Thanks James! She certainly is. I appreciate your visit.

James A Watkins from Chicago on February 05, 2013:

I had not heard of this disease. Thank you for the report. Your mom is surely a beautiful woman! :-)

Tammy (author) from North Carolina on November 28, 2012:

Wow Midget38! Do you have a genetic disorder? I am glad you are well. I have an aunt who has one and it took her hearing. Bless you for having to go through all of that. Wish you much good health!

Ms. Immortal from NJ on November 27, 2012:

I have never heard of this disease. I am so happy for you and your brother and how nice that your mother and aunt are able to live and watch their children grow.

Thank you for the information, voted up.

Michelle Liew from Singapore on November 27, 2012:

As a survivor of a brain tumor myself, I completely relate to the angst of the disease. Although mine is a benign one, I understand how traumatic it is to constantly have to test! Thanks for the frank sharing of your family's experience as well. Sharing to raise awareness too!

healthylife2 on November 02, 2012:

Very interesting and informative. I wasn't familiar with this disease but think it's great they can monitor someone with the gene and catch it early.Glad you don't have the gene but not happy Bush didn't support funding that can save lives. Voted up and shared!

Tammy (author) from North Carolina on October 17, 2012:

Thanks so much for reading and leaving a thoughtful comment pjlacy5. I haven't heard of tuberous sclerosis before. It does sound very similar to VHL. The internet is such a wonderful tool for learning about such things. I hope all is well for your family too!

Wildflower from Jefferson, MA on October 16, 2012:

Tammy, Thank you for sharing about this disease...I had never heard of it and my husband, and three of my children have a genetic condition that sounds quite similar. It is called tuberous sclerosis and causes benign tumors to grow in different organs of the body. It's been quite a journey but as you know, strength comes from these difficult situations with which we are presented in life. Congrats to you for the hub! Great job.

Tammy (author) from North Carolina on September 13, 2012:

Thanks so much for reading moonlake. I appreciate that!

moonlake from America on September 13, 2012:

Tammy so glad you don't have this rare disease and that your not a carrier. I have never heard of it. So glad your family members are doing well. Voted uP!

Tammy (author) from North Carolina on September 13, 2012:

Thanks so much for reading catsimmons. I appreciate your kind comment. :)

Catherine Simmons from Mission BC Canada on September 12, 2012:

Thanks for sharing this very personal account Tammy. I'm so happy that your Mom and Aunt are still going strong and that you and your brother have escaped the disease.

Tammy (author) from North Carolina on September 12, 2012:

Hi HappyBoomerNurse,

That means a lot to me. We are just blessed that this study did exist. There are so many people in the world that don't get the help they need. Thanks for reading and commenting.

Tammy (author) from North Carolina on September 12, 2012:

Thanks so much for your kind words on this difficult subject Rosemay. So few people have heard about this disease I want to spread awareness. :)

Gail Sobotkin from South Carolina on September 12, 2012:

Hi Tammy,

Came here after reading your wonderful interview with Marcoujor.

Despite being a nurse, I was unaware of this disease until reading this touching hub. Thank goodness your mother and aunt are still alive due to research that was being carried out when they were younger, but it's sad that the research was ended during the Bush administration and has not been reinstated.

Thanks for sharing your family's personal story, which is basically a success story for modern research and medicine.

Voted up across the board and shared.

Rosemary Sadler from Hawkes Bay - NewZealand on September 12, 2012:

Tammy I had not heard of this disease before reading your hub. I am so pleased yours and your brother's results were good and that your Mom was found soon enough to treat.

It is so sad to hear that research funds are being cut to fund wars, that is shocking.

Thank you for telling us your personal story, you are so brave.

Tammy (author) from North Carolina on August 30, 2012:

Thanks for your wonderful comment Maggs. It is really sad that so many diseases have lost research funds, especially because all the funds are going to war. The numbers for Alzheimer's research really shocked me. Thanks so much for stopping by.

maggs224 from Sunny Spain on August 30, 2012:

I am so pleased that at least for a while that there was government funding for this research and that your family was fortunate enough to benefit from it.

It is shocking to find that funding has now been withdrawn, who knows how many people are going to pay the price for this particular cut back.

Why oh why is that the positive funding seems to be the first to go :(

I had not heard of this disease before your hub, thank you for sharing I am so happy that your personal news was so positive and that your mum had her problems caught early enough to treat them.

voting up and hitting buttons as I go

Tammy (author) from North Carolina on August 26, 2012:

Thanks so much for your wonderful comment Rolly. I appreciate you kind words. We are definatley very fortunate to have been tested. I have heard wonderful things about Canada's health care system. That is a wise idea. I don't like how people's health is one of the biggest money making machines in this country. The system is made to make doctors, pharmacetical companies, and equipment manufactures filthly stinking rich. The quality of live and care to those who need it isn't what drives health care in the US. Thanks so much for responding and hugs from NC!

Rolly A Chabot from Alberta Canada on August 25, 2012:

Hi Tammy... such a blessing to read this and learn your mother and all her family are well... especially you and to know that your children will be fine is a blessing indeed. Far to often in life we lose these close to us if they wait to long to be tested for something they are concerned about.

We have a great health care system here in Canada and it is free to us. I have no reservations about getting a semi annual complete physical now that I have reached that untold age and it is considerably higher than your 39... smiles... So kid great to hear you are well...

Hugs from Canada

Tammy (author) from North Carolina on August 12, 2012:

Thanks so much PDXKaraokeguy! I really appreaciate that.

Justin W Price from Juneau, Alaska on August 12, 2012:

Tammy, I've never heard of this. Thanks for sharing. I'm glad you're from a family or survivors :-)

Tammy (author) from North Carolina on August 12, 2012:

Thanks innerspin. It was definatley worth it!

Kim Kennedy from uk on August 12, 2012:

Very interesting hub, thank you for sharing your family experiences. The week of tests must have been gruelling, but worth it as you have peace of mind for your children.

Jasmine on July 10, 2012:

Thank you, Tammy. We do, too!

Tammy (author) from North Carolina on July 10, 2012:

I wish your friend the best vox. I hope she beats the cancer.

Jasmine on July 10, 2012:

I really sympathize with people who suffer in every aspect. A family friend has recently disovered that she has metastatic breast cancer - it metastasized to lymph nodes. Because lymph node metastasis can sometimes be treatable, we're praying and hoping she'll survive the fight. People should be more aware of the current situation concerning the funding and research done in the fields. It's amazing how much we can help as individuals with small contributions; together, we're bigger and stronger!

Tammy (author) from North Carolina on July 09, 2012:

Thanks for your kind words vox vocis. The statistics on funding for diseases really doesn't seem fair in some cases. I hope our country can turn the economy around so there will be more funding for all people to have this sort of experience. I really appreciate your kind words and your genuine interest.

Jasmine on July 09, 2012:

What an emotional read, Tammy! Your mother is beautiful and you look a lot like her :) Thank God your mother and aunt have survived, and you and your brother are healthy. The research you've done on government funding per disease in 2011 gives a great insight into how things are developing for people who suffer from these diseases. Awesome hub!

Tammy (author) from North Carolina on June 02, 2012:

Hi Sharyn! Thank you so much for your kind comment. I appreciate your kind words. It is always good to see you.

Sharon Smith from Northeast Ohio USA on June 02, 2012:

Hi Tammy,

Great writing here = so much information with bits of personal experience throughout really keeps the readers attention. Of course, I have never heard of VHL, yet I really like learning about things like this. And learning the positive results for you and your brother, and that your mom and aunt are doing well was icing on the cake. Thank you for sharing your story.

Sharyn

Tammy (author) from North Carolina on June 01, 2012:

Thanks so much Pollyanna. She is beautiful. I appreciate your kind comment.

Pollyannalana from US on June 01, 2012:

You have a very beautiful mother. So happy for you all that things worked out for the good. Very interesting and informative hub, well done.

Tammy (author) from North Carolina on May 30, 2012:

Thanks so much Nell Rose. I appreciate that. We are fortunate to have a happy ending!

Nell Rose on May 30, 2012:

Hi tammy, I got here through Digg so I don't show up as normal. Thank goodness for testing, I had never heard of this before, I am so glad your mum is okay, as is the other members too. It must have been such a relief to realise that you were okay, and as you say its best to find out with tests, thank you for sharing this with us, and you are so brave as is your family, x nell

Tammy (author) from North Carolina on May 29, 2012:

You are one of the kindest Hubbers RealHouseWife. That means so much to me because this one was from the heart. I appreciate that so much.

Tammy (author) from North Carolina on May 29, 2012:

Thanks so much for saying that. There are many worse diseases a person could have. I appreciate your visit.

Kelly Umphenour from St. Louis, MO on May 29, 2012:

Wow Tammy - I'd never heard of this condition before. I love the way you write - and your articles are crystal clear with little bits of great advice too. Like how sweet to mention bringing a sweater...it really is the little stuff sometimes that make a huge difference. Personally, I'm cold natured and I just can get comfortable if I'm freezing.

Great informational hub - wonderful writing:)

Tammy (author) from North Carolina on May 29, 2012:

Thanks Pamela99. I am sure as an RN you have seen many traumatic things. Thanks for your supportive words. Our situation is much more fortunate than it is for many others. I appreciate your visit.

Aurelio Locsin from Orange County, CA on May 29, 2012:

I'm relieved that you show no signs of the disease, Tammy. But even if you did, it's fortunate that medical testing has made this a condition you can live with in many cases. Voting this Up and Useful.

Tammy (author) from North Carolina on May 29, 2012:

Thanks so much for your kind words Natashalh! :)

Tammy (author) from North Carolina on May 29, 2012:

Thanks for stopping by Amer Becherer. I appreciate the compliment.

I have lost a good friend to Huntington's disease. That is a disease that needs some serious research. Another terrible disease that is often overlooked for funding is Lou Gherigs Disease. More research and treatment options would increase the quality of life for so many.. in THIS country. Thanks so much for your comment and insight into Huntington's disease.

Tammy (author) from North Carolina on May 29, 2012:

I appreciate that Riverfish. Thank you! :)

Tammy (author) from North Carolina on May 29, 2012:

Thanks for your kind visit Shawn May Scott!

Tammy (author) from North Carolina on May 29, 2012:

Thanks so much for reading and commenting fpherj48. Your kind words are appreciated.

Tammy (author) from North Carolina on May 29, 2012:

That is a great comment tillsontian. People should participate in the many free tests offered at community health fairs and all sorts of places. So many are afraid to find out they may have a health problem but knowing early makes all the difference. Thanks so much for your comment.

Tammy (author) from North Carolina on May 29, 2012:

Thanks for commenting justateacher. I am all for the government spending more on making people's lives better and enriched in quality- especially when it comes to good health. These wealthy politicians can afford the care it would take to live with such diseases. Average americans can't afford testing and treatment. You make an excellent point!

Tammy (author) from North Carolina on May 29, 2012:

Thank you so much Thelma Alberts. That is so kind of you.

Tammy (author) from North Carolina on May 29, 2012:

I remember reading your hub on that Lord. It made me so very sad. Adults can handle these things, but children should not have to bear them. I don't know much about Steven Johnson Syndrome, but it sounds painful especially if it goes through the body. There are so many rare diseases that need more funding, but so little money to go around. You were very brave for your son. Thanks so much for sharing this difficult story.

Tammy (author) from North Carolina on May 29, 2012:

Thanks so much for your kind words Billybuc. Everyone is pretty grateful that things turned out well.

Tammy (author) from North Carolina on May 29, 2012:

Thanks for reading Susan. I can't imagine having blood cancer- especially at the age of 30. That is frightening. It really does make you worry about getting it and even worse, passing it on to your kids. Thanks so much for sharing your thoughtful comment.

Pamela Oglesby from Sunny Florida on May 29, 2012:

I am an RN and had never heard of this disease. It is wonderful to know you and your brother are not carriers of the disease and that your mother and your aunt survived with this constant monitoring approach. It is so difficult to treat any genetic disease and I am so glad that your story to this point has a happy ending.

Natasha from Hawaii on May 29, 2012:

Wow. I'd never even heard of this. This was an eye-opening read. Thanks for the information and personal account.

Amy Becherer from St. Louis, MO on May 29, 2012:

I consider myself fairly well read on medical issues, but I had never heard of VHL until now. Thank you for sharing such important, life-saving information with your readers, Tammy. Your writing style stays on topic, flows perfectly and remained interesting and informative through the last word.

I was horrified when I first learned of Huntington's disease, another genetic disease that always ends fatally. It is brutally devastating for everyone involved. Fortunately, with the proper diagnosis, there is hope for those diagnosed with VHL, as seen in your family, with monitoring and control through effective treatments. Huntington's remains illusively progressive with all patients dying. It is unfortunate that the endeavors through research to save people from diseases that don't have to end lives is superseded by the expense of war. That is a bitter pill to swallow.

Riverfish24 from United States on May 29, 2012:

Thank you for informing us all about VHL. Wishing you & your family good luck and good health...

Shawn May Scott on May 29, 2012:

Happy to hear all is stable. I am always amazed at the human body and spirit, its resilliance and ability to be healed. :)

Suzie from Carson City on May 29, 2012:

Tammy....My goodness, your family has dealt with some serious trauma. I am so relieved for you and your brother....(Not nearly as relieved as I'm SURE you and your brother are!!) It is wonderful that your Mom and sister have had the care and intervention so necessary.

I admit never having heard of this genetic illness. Thank you for an excellent, easy to follow explanation!! UP ++

Mary Craig from New York on May 29, 2012:

There are so many insidious diseases living in our bodies that we don't know about until someone gets sick or in a case like your family, when a test is done. You wrote a very factual easy to read hub about this and I think everyone should know about VHL. The very most important thing we can get across to people is to have screenings whenever they are available! Voted up, useful and interesting.

LaDena Campbell from Somewhere Over The Rainbow - Near Oz... on May 29, 2012:

This is the first I have heard of this terrible disease...glad your family is doing well due to the studies...government finds the worst things to cut from the budget...why not cut or freeze Samaria of congressman and senators and other high up government officials?

Thelma Alberts from Germany and Philippines on May 29, 2012:

Thank you for sharing this informative hub. I have not heard of this sickness before. I´m glad you,your mother and your relatives overcome this sickness. Voted up. Have a good day!

Joseph De Cross from New York on May 29, 2012:

Like Susan or IshwaryAA22,never heard of VHL. I know what you went through. On a personal side, I spent 11 days next to my son in the Hospital for a rare disease called Steven-johnson Syndrome(SJS)Is basically a reaction to certain antybiotics. The effects are toxic epidermal necrosis, meaning that if not treated on time, your body starts to get putrified. My son was so much in pain, that tears rolled down from his eyes, and barely saying the words,"why mee..!"

Now you see why we get concerned about diseases. You have a wonderful life ahead with your kids and that princess of yours. Thanks for writing about such frightening ordeal.

LORD

Bill Holland from Olympia, WA on May 29, 2012:

Tammy, this is the first I have heard of this disease. I am very happy for your family; despite what they have gone through there is a happy ending. Thank you for sharing a very informative hub.

Susan Zutautas from Ontario, Canada on May 29, 2012:

I'd never heard of VHL prior to reading your hub. I'm glad that this type of cancer has received funding and that through testing people can find out if they have or can pass this onto their children. Happy to know that you and your brother received good news and that your mother and her sister are fine.

I know how you feel when it comes to the worry hitting a certain age. My mother was diagnosed with myeloma (a blood cancer) in her early 30's. When I hit my 30's I worried constantly.

Ishwaryaa Dhandapani from Chennai, India on May 29, 2012:

An informative and well-written hub! Good to know that your mother and your relatives have survived this disease and now leading a happy life! I understand about your ordeal through the testing process when you was young. Glad to know that the results are absolutely positive for both of you and your brother. You are very courageous! I have not heard of this particular disease till now thanks to you. Well-done!

Thanks for SHARING. Useful & Interesting. Voted up and Socially Shared.

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