Genetic testing leads to diagnosis for rare Von Hippel Lindau disease


Haley Miller and her daughter, Layla


Haley Miller, now a wife and mother of two, went to her first genetic testing appointment at age 20.

“It was around 1999 and genetic testing had just been developed. As soon as it had, the doctor recommended our whole family go, so we did,” Miller says.

Most families don’t just think of setting up genetic testing, but when Miller’s father was diagnosed and eventually passed away from complications of Von Hippel Lindau, their family knew it could only help.

Von Hippel Lindau (VHL) is an inherited disorder where those affected experience abnormal growth of tumors and cysts throughout the body. The tumors can be both benign and cancerous and many of them can be found in the adrenal glands, kidneys, pancreas and central nervous system. Those affected by VHL undergo body scans each year to check for progression and changes in the disorder.

“There was a 50-50 chance I would have it. My father was a twin and both he and his twin were the first mutation in our family,” Miller adds.

Haley (R) with her sister, Emily, and brother, Dan

Haley (R) with her sister, Emily, and brother, Dan

Miller and her siblings decided to sign up for the genetic testing, knowing it would take several months to receive the results. The results came back positive for VHL for Miller and her sister, but her brother’s results came back negative. After hearing the results, Miller began to set up her scanning protocol.

“The weird thing was we had already set up the scans, and then about three weeks before they were scheduled to take place, I started having symptoms similar with the disorder. Before that I had felt fine,” she says. “They decided to bring me in early and my symptoms just seemed to get worse.”

The doctors decided Miller needed to have surgery soon to remove some of the tumors.

“Well it’s actually kind of funny because the surgery was possibly going to be scheduled for Jan. 1, 2000,” she chuckles. “But it had to be pushed back to the third because the first was Y2K and they weren’t sure if the computers and machines would still be operating normally.”

Miller continued to manage her care through various specialists in Florida after a recent move there. When she decided to move back to Michigan, she knew she needed to find somewhere for follow up and continuous care.

She was already familiar with the VHL Alliance, a national organization and resource for patients and families affected by VHL, and thought it would be helpful to her search. The organization’s website included a directory of U.S. clinics and hospitals specializing in the disease.  She found the University of Michigan Health System, which would later be named one of 10 Comprehensive Clinical Care Centers in the nation by the VHL Alliance for having expertise and experience in treating VHL, as well as education and research around the condition.


Dr. Tobias Else

She met with Dr. Tobias Else, an endocrine oncology and cancer genetics physician at U-M, and each year she returns for testing and scans to make sure her condition is kept under control.

“We see VHL patients at least once a year to ensure everything is going smoothly,” Else says. “As a Comprehensive Clinical Care Center for VHL, we work very closely with an excellent network of experts at U-M covering all potentially affected body parts. For example, if we find a tumor in a patient’s brain during his/her scans, we send the patient to an excellent neurosurgeon for further treatment.”

Miller mentions she sees many specialists and her protocol is to watch and monitor her body. This was especially important when she and her husband decided to expand their family.

“I worked with the doctors and specialists while I was pregnant both times, including having extra testing, to make sure everything was progressing normally for me and my babies,” Miller says. “And once each of my daughters was born, I worked with the genetics clinic to also have them tested. My oldest daughter is fine, but my youngest daughter has acquired the condition, too. She will come with me to the genetics clinic every year for observation and eventually scans.”


Haley’s daughters, Brooklyn and Layla

Miller points out that research is an important part of the fight against VHL.

“I want people to know you have to donate and fund research to find a cure for this disease. Many researchers believe if they can find a cure for VHL, they think they can find a cure for cancer in the future.”

Dr. Else mentions its patients like Miller donating their tumors to a research registry that help researchers find out more information about the condition.

“Almost 100 percent of patients consent to being part of the tumor registry because they’re interested in learning more and know it can potentially help find future treatments,” he says. “Research for VHL is really only possible because registries like this exist.”

Even though Miller currently lives with benign hemangioblastomas (tumors in her central nervous system) and several cysts in her pancreas and kidneys, among other locations, she considers herself lucky.

“Both my sister and I have VHL, but luckily we haven’t had to have several surgeries. This disorder can be very difficult to live with and monitor for most people, even my father and uncle had several surgeries by my age.”

Miller strives to manage her condition and doesn’t let it control her life.

“In day-to-day life, it doesn’t affect me much,” she says. “I try to live a pretty normal life and be diligent about my scans every year and keep ahead of it.”

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