In 1997, I went to my optometrist for an annual eye exam. I expected to come out with a new prescription for my glasses and contacts. Instead, I got a referral to see an ophthalmologist because my optometrist saw a cyst-like grouping of blood vessels at the top of my retina in my right eye.
I felt a little worried, but had confidence that the ophthalmologist would say it wasn't a big deal. I was more afraid that he would have to operate on my eyeball than anything else. A few days later, my husband and I waited in the ophthalmologist’s office for nearly two hours before I was taken back with a nurse. She tested my peripheral vision and put drops in my eyes to make them dilate.
A few minutes later, the ophthalmologist came in, introduced himself, and asked me the reason for my visit. Then he looked into my right eye. Without any genetic testing, a CT scan, or an MRI--the usual procedures to diagnosis a Von Hippel Lindau retinal angioma--he stated that I had a retinal angioma called a Von Hippel, named after the doctor who found these types of angiomas.
Next, the ophthalmologist had his colleague, a neuro-ophthalmologist, come in and look into my eye. He stated, "Yep it's a Von Hippel." Now, the ophthalmologist started writing. He stated, "You will need an MRI, a CT scan, and a urine test to see if there are lesions on any other parts of your body. Did anyone in your family ever have angiomas?"
"I don't think so," I answered in a near panic.
"Okay. Well if you have kids, get them tested."
"We don't."
"Well then consider not having them since this is a genetic disease."
Meanwhile, I looked at my normally laid back husband, John. His eyes were as wide as an owl’s. Now, I knew I had something to worry about. John and I sat there in stunned silence.
A coldness set in my soul, close to a panic attack, as we drove home. The diagnosis felt surreal—I’ve been healthy all of my life. What was this all about?
True to my nature, I was going to research this problem until I found an answer that satisfied me. The internet was in its infancy, so I relied on my husband to research the disorder during his free time at work.
I couldn’t sleep or eat. Anger and dismay set in. My stepmother sympathetically asked me one day, “Is your body working against you?”
And I dismally shook my head, “Yes.”
Research on the internet proved to intensify my fears. Words like cancer, lifelong testing, loss of sight, and other effects were associated with this disease. My CT and MRI scans were still another two weeks away. In a couple days, I was going to stop by the lab to pick up my jug to pee in for 24 hours straight. This process was turning into a humiliating experience. I was looking for support, so I called the Von Hippel Lindau Family Alliance in Boston, Mass. The woman who answered didn’t give me support, just more dismal news, “If you have an angioma in the eye, then you have Von Hippel Lindau—the entire disease. It doesn’t matter where it first manifests itself. You need to get these scans every year.”
Ugh! I thought to myself. The more that I found out about this disorder, the worse the news gets. I felt that I was dying. All of sudden, all of those twitches in my back were malignant tumors on my kidneys. A little bit of gas meant that I had pancreatic cancer. Stress headaches became angiomas in my brain. I was convinced that I was living my last days.
At the end of January 1998, I had my MRI and CT scans. I completed my 24-hour urine sample. Then, I saw my family doctor for the test results. He said, “All of the tests came out fine. The next step is to look into family history and see a genetic counselor.”
“I already questioned all of my family members. I asked my grandmother about my great-grandparents. There is no family history of VHL or angiomas,” I said listlessly.
“I have a hard time believing you have this disorder, especially since there’s no family history. Would you consider getting a second opinion?” the doctor asked.
“Yes,” I said. I felt relieved that my family doctor thought there might be a chance that I didn’t have VHL.
I went to another ophthalmologist, who had a small practice. He saw a lot of elderly diabetics; the receptionist says to me that I was a unique case.
The nurse gets me set up to see him by putting drops in my eyes. I had all of my records from my MRI, CT scan, and urinalysis sent to him ahead of time. The doctor came in, shook our hands, and sat down in his chair. The lights were dimmed, and he took out his ophthalmoscope to look into my eyes. “Ah, there it is,” he said.
“Yep, there’s my problem,” I said shakily due to the high volume of my anxiety.
“Well, your tests came out fine. But you’ll probably want to keep getting them taken, including the thorax area. What we’ll first do is cryosurgery to freeze the blood vessels and then a laser surgery to go after the angioma. It’s at a good spot on the retina.”
He turned on the lights and put in a special contact in my eye to better see the source of all of my current problems. Then, I looked into the phoropter.
He turned back to my husband, who was sitting quietly on the bench behind him, and said, “Would you like to see this too?”
ohn got up and looked into the partnering eye piece as the doctor started to describe what he could see. All of a sudden, I saw with my left eye the doctor’s arm fly out and a thump against the wall. John almost passed out. “Put your head between your legs and I’ll get your wife off of this so you can go home,” the doctor ordered.
Lights went on, the instrument went back, and the doctor took the contact out of my eye. I blinked and said, “What’s going on?”
“I think I have the flu,” my husband said weakly.
“Okay,” said the doctor. “Let’s get you out of here since your husband looks like he’s going to be sick. We’ll schedule you to come in for a cryosurgery, and then we’ll be doing laser surgery to shrink the angioma.”
So, I scheduled my cryosurgery for the end of February.
The doctor later told John on the phone that he wouldn’t argue with the other doctor that it was a Von Hippel.
The cryosurgery happened on a Friday at the end of February. I wasn’t allowed to do any heavy lifting or put any pressure on my eye for six weeks. As spring started, I started to hesitantly relax that I might survive this disorder. The ophthalmologist continued to see me on a monthly basis. He was happy with the cryosurgery, and that summer, I had two laser surgeries to blast the angioma into scar tissue. Both of those surgeries went as expected too.
By Christmas 1998, I was supposed to schedule my annual CT scan, MRI, and urinalysis jug. Old feelings of fear started to take over. I started worrying that every ache and pain was associated with Von Hippel Lindau, and I started to bring long lists of minute complaints to my family doctor. He continued to press for a DNA test and now, for me to also get some help for my anxiety, which I ignored. Also, I decided not to do anything with genetic testing until it was time for us to have kids.
For the next three years, I faithfully went through the testing. The tests always came out clean. Further, I saw my ophthalmologist every year, and the angioma healed as expected. There were no other lesions in either eye. And I had my first son during this time period. I worried throughout my labor that I was going to die due to an angioma on my adrenal glands. But I survived, and I had a healthy baby boy.
When my son was two months old, I went to a nearby university hospital to have my blood drawn for genetic testing. And what do you think happened with the test results? Nothing. I didn’t have the gene nor carried the gene for VHL with 93 percent accuracy.
What’s the moral of the story? My ophthalmologist retired in 2001, and I decided to go a local university hospital for further check-ups on my right eye, which he recommended that I do annually. The new ophthalmologist looked into my eye and told me it is possible to have a single angioma and not to have Von Hippel Lindau. It just happens, and they don’t know why. So, she agreed with me that I wasn’t required to get further testing on the rest of my body since my genetic test came up negative for the gene. But, I do need to have my eyes seen on an annual basis in case something crops up.
It’s been over 10 years since that grim diagnosis, and nothing has happened VHL-wise. I’m thankful to God for that. I’m also thankful that I didn’t listen to the first ophthalmologist who advised us not to have children. John and I now have two healthy boys. If there’s a next time for such a dire prognosis, I will put my hand up at the doctor, and say, “Let’s not jump to any conclusions before I undergo any tests. I’ve already lived through a dark prognosis that ended up as a red herring, and I’ve learned some things along the way. One of them is not to put a sentence on my well being before all the necessary testing is done and the results are in. Until then, I’ll do what you recommend, but I won’t succumb to my deathbed.”
