I am a third generation VHL survivor. My maternal grandmother died from metastatic renal cell carcinoma when I was 12 years old. She had already lost her vision due to a tumor on her optic nerve and also had a craniotomy for a brain tumor. At the time, we didn’t know that it was VHL.

My mom also has VHL. She has had two craniotomies (for brain tumors), two laminectomies (for spinal tumors), three partial nephrectomies, multiple eye surgeries that have resulted in loss of vision in her right eye and she still has a spinal cord full of tumors that have left her with extremely decreased sensation and strength below her neck.

I have a little brother who is 15. He has made the decision not to have the blood test done, so instead my mom makes sure that he gets his screening done. So far he hasn’t shown any signs of VHL. Of my mom’s siblings, one of her brothers has been tested and is negative, her sister passed away from a brain aneurism, and was never tested (however she and her husband didn’t have any kids) and mom’s youngest brother hasn’t been tested.

I am 27 years old and was diagnosed with VHL when I was about 13. My mom had only been diagnosed for about a year or so before me. My diagnosis came after finding retinal hemangiomas. I have had multiple eye procedures, but because of the location of the tumors and the wonderful care I have received, I still have 20/20 vision.

My mom has always been as honest with me about VHL as possible, however when I was diagnosed we were still extremely new to the disease. She told me at the time that the theory was that VHL could be “triggered” by hormonal changes, but I didn’t really get it. When I was 19, I went on birth control and four months later I was having a craniotomy.

My only symptom was having the hiccups between 20 and 40 times a day. I had seen a wide range of different doctors, and all any of them could offer was a pill that would make my hiccups go away. To me that just didn’t sound right, surely there was a reason for them and I wanted to know what it was. I convinced my primary doctor at the time to order an MRI of my head and a CT of my kidneys, as Mom and I felt I should probably have some baseline scans done. After having my head MRI reviewed, it was discovered that I had a tumor in the brain stem and it was pushing on the area that controls hiccups. After a few different opinions, I told my Mom that I only wanted her neurosurgeon to do the removal, as I had seen firsthand the work he could do from her previous surgery. My surgery was a complete success.

At that point I quickly learned that VHL wasn’t anything to play with and it was going to be a big factor in my life decisions forever. I also came to the conclusion at that point that, at least for me, hormonal changes were going to be tough.

In May of 2002 I graduated from nursing school. I married my wonderful husband Lee in August of 2002. He was aware of my VHL long before the wedding, but he had only experienced my Mom’s recovery from one of her partial nephrectomies. It was still pretty foreign to him. We had spent many hours talking about children. We both knew that we wanted a family, but the means of attaining that family wasn’t clear. He was extremely supportive and told me that he would be happy adopting or having our own children, if I thought it would be safe for me.

A couple of months after the wedding, baby fever really hit hard. I wanted a child, and I wanted to have my own child. So I started having all of my screening done. I had multiple kidney cysts that had been there and remained unchanged since my very first scan six years earlier. I also had multiple pancreatic cysts (one large enough to measure) that were again unchanged from the beginning. I had a spinal tumor that was found six years earlier that also had never changed and I had a cerebellar brain tumor that had been found two years earlier, but had remained stable for those two years.

I talked with my neurosurgeon and my urologist about my thoughts of getting pregnant, and both felt this was as good a time as any. I consulted with a perinatologist (a specialist in high-risk pregnancies) and we discussed VHL and my manifestations. She was very honest and told me that she didn’t have personal experience with VHL, but she would do her homework. She sent multiple e-mails to other perinatologists and copied me on all of them, as well as their answers. We met again, and she agreed to take me as a patient. She said we would develop a plan for delivery that would be safe for me and the baby.

I got pregnant in January of 2003. Lee and I were so happy. We had agreed not to tell anyone, except our parents, until we were through the first trimester. However, that plan didn’t work. I began having terrible headaches during my 8th week of pregnancy. I called my doctor and we tried everything. I had given up caffeine cold turkey, so I started drinking some caffeinated things to see if that would help. It didn’t. By now, I was having trouble standing up from a sitting position without feeling sick to my stomach and having terrible pain. Finally, after about a week of this, my perinatologist sent me for an MRI of my head (which is perfectly safe during pregnancy due to the lack of radiation, and the contrast is also safe). The tumor that had been stable in my cerebellum for two years had taken on a life of its own and was now blocking my cerebrospinal fluid from draining into my spinal cord to maintain the fluid balance in my brain.

My perinatologist took it upon herself to consult my neurosurgeon, and together they agreed that the best plan was to wait until after my 12th week of pregnancy, when the baby is formed, to do surgery. Unfortunately, I couldn’t make it that long. My neurosurgeon was afraid that the pressure in my head was going to cause me permanent damage if it wasn’t relieved immediately, so he personally called my house, told me to pack a bag and get to the hospital immediately. He scheduled surgery for the next day, but wanted me in the hospital in case something happened during the night. I was only in the beginning of my 10th week of pregnancy.

I had surgery on April 7, 2003, to remove the tumor. After being anesthetized, my surgeon had to put a ventriculostomy (external brain drain) in to relieve the pressure before he could go after the tumor. He was forced to leave me on the table under anesthesia (and pregnant) until enough fluid had drained to allow him to proceed safely. My whole surgery took about six hours, but it was a complete success. After surgery all anyone could tell me about my baby was that there was still a heartbeat.

By now you can image the crash course that my husband was receiving on VHL. He was worried about me and worried about the baby. We spent the next seven months having multiple sonograms done. Each one assured us that the baby was fine, normal, whatever word you want to use, but nothing was going to convince me until I could see this child for myself.

Two weeks before I was to be induced, my perinatologist sent me for the whole series of head and spinal MRIs to make sure there were no changes. All that was found was the spinal tumor that had thankfully remained stable for my whole pregnancy. I also went to see my eye doctor before delivery and he found a small retinal lesion. Armed with this information, my doctor consulted with the anesthesiology team at the hospital, and presented my case to them and told them what she wanted to do and why. With everyone on board, we proceeded.

I was induced on the Friday of a weekend that my doctor was on call. While I had met with all of her partners and they all agreed on the same delivery plan, I wanted her to be the one handling the situation. We got to the hospital at 8:00, they started Pitocin at 9:00, and broke my water at 11:00. I had an epidural placed (thus one of the reasons for the spinal scans pre-delivery). My doctor was adamant that I not push (she was afraid of elevating the pressure in my spine and head and causing problems with my eye tumor or my spinal tumor) so we let the contractions work the baby through the birth canal, and then I played tug-of-war with the nurse. She wrapped a bed sheet around her waist and whenever there was a contraction, I would pull against her, helping the baby get through the birth canal. Finally the baby was far enough along that my doctor (who had an extremely high level of expertise) was able to use forceps to get the baby all the way out. At 3:10 on October 24, 2003, a perfectly healthy, 7lb. 5oz. Kaytlynn was born. She is my miracle baby.

Even with everything that we went through, I have never regretted the decision that we made to have our own child. Yes, I worry that she might have VHL, but I also realize that the advances we have made and continue to make will be at her disposal. We are going to have her genetic testing done when she is a little older, when she is a little slimmer and has easier veins to stick and when we are used to having a child who bumps her head and has a cold, things that all kids do. We need to know that if she does have VHL, everything that happens isn’t going to be related.

We have already had a complete eye exam, dilatio and all, done on Kaytlynn. She has also had an ultrasound of her kidneys done. Both of these were done at the request of the doctors that I want to follow her if she does indeed have VHL. While some would argue that it could be a waste of my time and money to start developing her team of pediatric specialists now, before I know her genetic results, I don’t agree. Part of it is being a mom, wanting only the best of your child and knowing that you have done all that you can to provide for them, in all areas of life. The other part is being a nurse and seeing too many people who aren’t proactive and settle for whatever care falls into their lap. I refuse to settle for anything other than the best for myself, so to take care of my child, you better believe that the doctor is going to be top notch.

I don’t spend time wishing it wasn’t my grandma, or my mom or myself. It is a fact of life that can’t be changed, but must be dealt with. We have a rule in our family that you never go to the doctor alone, even if you don’t expect to hear anything new. Everyone needs support, and two sets of ears are always better than one. My mom and I have our CTs done together so we can make faces at one another while we drink the terrible contrast. When the time comes for a change in the news, I allow myself one good cry, and then it is nose to the grindstone to figure out what needs to be done and to get myself physically and mentally prepared to deal with the newest challenge. That doesn’t mean that there aren’t days that I get tired of dealing with it, but the fact remains that I can’t change it and I am not willing to let VHL define me.

We live with the motto that “God will never give you more than you can handle”. There are definitely days that I think He is pushing His luck, but then I hear a sweet little voice say “mama” and I know it is all worth the effort.

For VHL women who are considering pregnancy, I have the following recommendations:

Consult with a perinatologist before you become pregnant (some will even agree to just oversee things if you already have an obstetrician that you feel comfortable using).
Discuss delivery day, long before the time comes. Make sure that everyone agrees on the plan, including any partners of your doctor who could potentially deliver your baby. Make sure that you are 100% on board with the plan. If your doctor suggests forceps or a vacuum birth, make sure they are fully trained, use the techniques often, and that the hospital has supportive services available should the baby need them.
Avoid a Caesarean-section whenever possible. While the scar from a C-section should be well below the area for entrance when doing anything to the kidneys, why risk adding scar tissue to your abdomen when renal cell carcinoma could realistically be in your future?
Be sure to have thorough and complete scanning and an eye exam done before you become pregnant and shortly after the baby is born to know what you are dealing with at all times.
Don’t be afraid to ask questions. Make sure your doctors know about VHL, and if not, that they are willing to learn about it.
Talk to other women who have made the decision to have or not have their own children. No one else can make the decision for you, but knowing someone else had the same hopes and fears can be reassuring.

Editor’s Note: This is Amy’s story. There is still no data to prove whether hormones definitely trigger tumor growth, or whether the tumor was just ready to make its move when the hormones changed, but times of hormonal change are definitely a time for caution and careful monitoring. As described in the new Handbook, the normal changes of pregnancy can certainly inflate existing tumors. If you have had experiences with pregnancy — both positive and negative — and have good documentation of your case, with good before and after pictures, and would be willing to participate in a study of pregnancy and VHL, please contact the VHLFA at 1-800-767-4VHL.

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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