VHL is covered by WQOW in Wisconsin

Eau Claire (WQOW)- As a television show sheds light on a rare disease, a local woman opens up about her battle with it. In recent episodes of Grey's Anatomy a patient is fighting Von Hippel Lindau.  The disease has power to cause tumors in almost any part of your body. If undetected, those tumors could lead to vision loss, or heart attack and stroke. 

"There's probably not a day that goes by that it doesn't cross my mind that I have VHL." 6 years ago Kristan Motszko noticed an ache in her head. The pain she was feeling was a brain tumor. Three years later a second tumor was discovered. That's when doctors diagnosed Kristan with Von Hippel Lindau disease.

"It's a tumor of the blood vessels generally," said Dr. Timothy Young, a neurologist with Luther Midelfort. "So the tumors often start in the eye, most often in the retina so they might encounter vision loss usually in one eye, sometimes both eyes. Tumors can also occur in the back of the brain."

VHL is a genetic disease. Caught early enough tumors can be removed or even prevented. "When the retinal hemorrhaging is small, it's easier to treat" said retinal specialist Dr. Wayne Wu, at Luther Midelfort. "Usually it can be treated very effectively."

The disease is rare. So rare in fact, only 1 in 40,000 people are ever diagnosed. Now, a popular television show has brought the disease into the spotlight. In recent episodes of Grey's Anatomy doctors discovered a dangerous tumor in this patient's adrenal gland, dangerous because it could lead to heart attack or stroke if the tumor isn't removed in time.
"The tumor is called a pheochromocytoma," continued Dr. Young. "It's something we talk about in medical school, we all like to say it but they are very rare. Sure it's drama but it's real drama that can occur."

Though there is no cure for VHL, it is manageable. Each year Kirsten needs MRI scans of her brain, spine and abdomen. She also meets with retinal specialist, Dr. Wu, to make sure she remains tumor free.

"There is a little anxiety attached with those annual checkups because some years they've been fine, and other years not," said Kristen. "You kind of wonder what the outcome is going to be, what life is going to be like for my family and I the next year, two years from now, or 20 years from now."

"I live a little bit like we all should," continued Kristen. "Every day to the fullest."
And here's the good news. Kristan has been tumor free since 2008.  Also encouraging, we told you the disease is genetic, no one else in Kristan's family has been diagnosed.
The second of a series of three episodes, of Grey's Anatomy, airs Thursday night at eight o'clock on ABC.