Once my family started getting tested, they found that they must have received the mutated gene from their father, my grandfather.
He had died in 1958. He had lost his sight but they thought it was because of diabetes or something else. No one knew he had VHL. It's likely other family members had VHL but were never diagnosed. Some living their lifes normally without symptoms and others not. It's hard to know for sure who had it and who didn't.
My brother and sister and I all had our regular eye exams during the 60's. We all made it the 20 year mark and breathed a sigh of relief because that's what the doctor said. If we didn't get it by the time we were 20 years old. Chances are we wouldn't have it.
In the late 1970's early 1980's my Uncle Bill found out he had kidney cancer. We also found out that Renal Cell Carcinoma is related to VHL.
If you have VHL, you are predisposed to Renal Cell Carcinoma...in addition to tumors and cysts in other parts of the body. The brain, spine, pancreas, retinas, kidneys, adrenal glands, spleen and reproductive organs...even the ears.
"What happened to the part about just being an eye disease?"
Uncle Bill had been a football player in college, he was a football coach, he was the epitomy of health, never had a cavity. So when he got cancer...it was hard to believe. Harder yet to absorb that this is "IT"...VHL.
It's 1995. My employer just changed our health insurance program, and while flipping through the pages, I see a familiar name. I call my mom and ask, "what was the name of the doctor who diagnosed you?" She said, "Dr. Straatsma" at UCLA.
Wow, Dr. Straatsma is in my network...I quickly called and made an appointment. Even though I had just had an eye exam a few months earlier.
I met with Dr. Straatsma the following week. He remembered my mother and my uncle and my cousin... My cousin, was diagnosed at age 12 with angiomas on her retinas.
Hey, I was just coming in for a check up...thought it would be great if an "expert in VHL" would take a look at me...since "the eye disease" isn't just and eye disease any more.
After dialating my pupils...after looking into my eyes with magnifying lenses, after about 20 students all took a peek...I was starting to get nervous. The doctor wanted to take specialized photos of my retinas. ugh. Not sounding very good...and it wasn't very good. I was diagnosed in 1995.
So another round of tests, my brother and sister, my daughters and my son...all were tested. My brother was diagnosed then too.