Hello, my name is Melissa. I want to briefly write to you about my family who inspired me to do a fundraiser for VHLFA. My father, Ron P., age 62, was diagnosed with VHL this past February. He had his kidney removed last year due to renal cell carcinoma. His remaining kidney still has cancerous tumors on it, but luckily it is still functioning. My Dad had no symptoms at all until a simple blood panel revealed he had a high level of creatinine in his blood, which prompted his doctors to look at his kidneys. Luckily he has no other signs of VHL at this point, but needs to have further testing done.

My Dad’s sister, my Aunt Susan (age 42) also has tumors on both of her kidneys, her pancreas, and some on her liver. She too has had no symptoms. She tested positive for the VHL mutation as well, but because she just learned about this in August she has not had any medical intervention yet. Since then, my daughter, Keri (age 2) and I (age 29) have both tested positive for the VHL mutation too. Luckily, we do not have any signs of VHL after numerous tests. We also learned that my grandmother, Gertrude P. (age 84) has the VHL mutation, but she has never had any symptoms or complications her whole life!

We still have a couple of family members that need to be tested. I have 2 brothers, Michael (age 27) and Ryan (age 25) and a nephew Mickey (age 4) who will be tested soon. My grandmother comes from a family of nine children. She only has 2 sisters that are still living. But 43 other family members could potentially have VHL! My grandmother has many nieces and nephews. We are not sure if anyone else will decide to be tested, but they have all been informed. It is unusual that no one else has shown signs of VHL, so it may be possible that the mutation began with my grandmother.

Grandmother Certrude and Aunt Susan

It has been a difficult year for our family finding out that we have this rare inherited disorder, but when we found the VHLFA website it gave us hope. We were able to learn so much from the site and we still learn something new every time we visit it. We are also grateful for all the publications and for the Handbooks that your organization has sent to us. It is scary when our doctors do not know anything about VHL or they’ve never heard of it! But through the VHLFA we have been able to educate ourselves, doctors, family and friends. I truly feel VHLFA has given hope to those who don’t know where to go. I don’t know what we would have done if it were not for VHLFA!

Through the VHLFA website we were also able to learn about the U.S. National Institutes of Health and their fabulous research studies. Thankfully, my Dad and my aunt were just accepted into a research study. We feel blessed that they will be able to see some of the best doctors in the world. We also learned from the NIH that my Dad’s type of kidney tumors have never been seen before with anyone else they have studied. It will be interesting as they learn more about it.

On behalf of my family, I decided to do a fundraiser for VHLFA because of its help and dedication to those with VHL. I didn’t do anything spectacular, I just sent out letters to family and friends, but I found that everyone who responded was very supportive and generous. I just felt that I had to do something for VHLFA in honor of my grandma, my Dad, my aunt, my daughter, and to all those who are dealing with VHL. We have been blessed in that VHL has not been as cruel to us as it has to other families, however I understand how many families feel with this diagnosis. I know it is difficult to live with. I felt that doing something to find a cure for VHL was the right thing to do. I pray that a cure can be found in my daughter’s lifetime so that she will never have to worry about VHL. I also hope that my Dad and my aunt can live long lives despite this new diagnosis. My Dad and my aunt have had a hard time learning about this, just as I have. It was so unbelievable to think that our family had this rare disease. Here I thought we were pretty normal and to find out that there aren’t many people in the world with VHL was shocking! I remember talking to a few geneticists that were in “awe” to talk to someone with VHL because they have never encountered a VHL patient in their practice! It was also scary telling my doctors about this, especially when they’ve never heard of it! Luckily, I had my VHL Handbook for my doctors to refer to.

Another reason I decided to do this fundraiser was to raise awareness of VHL. Since VHL is so rare, I felt people needed to know about it. I also wanted to emphasize the importance of getting a regular physical and blood panel done no matter what your health status is. I find that everyone talks about being healthy, eating right, and exercising, but I never hear people talking about the importance of regular doctor check-ups. I truly believe that my Dad’s routine physical and blood panel are what saved his life and that of all of our family members with VHL. My Dad actually had high blood pressure, and with my Mom’s help she prompted him to see his doctor. Instead of his doctor just giving him blood pressure medicine and sending him out the door, she decided to give him a physical and to do a blood panel. When his doctor found high levels of creatinine in his blood, she knew his kidneys were not working properly. An ultrasound, CT scan, and MRI eventually led to surgery, which led the doctors to believe this was VHL. I never realized how much your blood can tell about what is going on inside your body, so I felt that it was important for people to realize this just as I did. (See Note below.)

I began the fundraiser on September 20, 2004, and ended it on October 20. Thus far my family, friends, and I have raised $3500. I have enclosed checks along with the VHLFA forms I downloaded from the website. I was truly amazed that we were able to raise that amount of money by just sending our simple letters! I hope this money can help out in many ways, and hopefully a cure can be found one day.

Thank you again for all of your help to our family and to everyone with VHL. We truly appreciate the VHL Family Alliance!

Editor’s Note: We are grateful to Melissa and all her family and friends! We should also note that VHL does not always create a disturbance in the function of the kidney, so a blood panel is not sufficient to check for VHL. It is certainly fortunate that in this case it showed up in the blood work and the doctor did such conscientious follow-up. People who know they may be at risk for VHL should follow the screening guidelines in the Handbook to check for possible kidney problems.

As printed in the VHL Family Forum 12:4, December 2004. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.
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