I had a DNA test...since I was the oldest (well, 2nd oldest). They wanted to have the "familiar mutation". I guess, every family has a prominant mutation.
Mine was "IT".
In 1995, shortly after I was dianosed, my daughter Shana had a very bad headache. She went to the emergency room and was given a shot for the pain and sent home. We didn't think a whole lot about it because, we all have migraine headaches from time to time.
The next day, she woke up and tried to walk down the hallway but couldn't see, or stand...OMG! We rush her to the hospital and after a CT Scan, we found tumors in her brain. OMG! She was just 19 years old...with two small children.
They rushed her into surgery and what the neurologist said was: "has your daughter been out of the country?" I didn't understand... He asked again; "has your daughter been out of the country?" What he found were 4 cysts at the base of her skull, where her spine meets the skull. The cysts had been blocking the fluid from flowing freely from spine to skull. He said they just floated up to the surface and he removed them. He said they looked like parasitic cysts...from eating food from another country.
No! She had not been out of the country.
We went to see her in ICU and by this point I'm freaking out. My daughter had tubes coming and going from every part of her body. She had a big IV in her neck, her head was wrapped in guaze and there was blood on the edges of her bandages and on her pillow. She couldn't move. But her eyes followed me. I knew when I looked into her eyes that she would be ok...but I'll never forget crying outside of the door in ICU holding onto my younger daughter, being scared to death.
The doctor said when Shana woke up from surgery, she was saying "Thank you, Thank you"...she said the pressure had been unbearable and that the recovery was "nothing" compared to the headache.
Up until 1995...we thought this was just an eye disease. Now, another one of us has something else. Brain Tumors?
Within three days, my daughter had yet another brain surgery to insert a shunt. She would have five more surgeries...
We found out that UCLA would help us do DNA testing. Their Genetic Departmant and Dr. Crandell would check several of our family members.
I went first and the others followed as their insurances allowed. Others paid for it themselves. Not everyone was tested but what we know so far, is. My daughter and her son have it.
My younger daughter does not. We're told that if she doesn't...it won't be passed on. It won't show up several generations from now. It's not some sort of recessive gene that will pop up down the line. So Far...
It seems that this VHL thing has a mind of it's own...and we, the patients and our doctors learn as we go along.
If you are a VHL patient, find a genetics specialist and be tested, have your family tested.
It's better to find out this way...then finding out when you have a symptom. Once you know, you can manage your health. You will find that YOU will be educating your health care providers becaue most have never heard of VHL before.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/