Reeling in von Hippel-Lindau Disease
Irish Dance Instructor Finds Comprehensive Care for Rare Genetic Disorder at Dedicated VHL Center
After undergoing surgery to address ovarian cysts, Ellen Waller, 31, wasn’t too concerned about the laboratory tests being performed on the cysts to determine their pathology and type.
"I had never had anything wrong with me and I thought I was perfectly healthy," said the Irish dance instructor from Chicago. "It was shocking to learn I had a genetic syndrome that causes tumors to form throughout my body."
Doctors told Waller the cysts were possibly caused by von Hippel-Lindau (VHL) disease, a genetic condition characterized by cyst and/or tumor development in up to 11 organ systems including the eyes, brain, spine, adrenal glands, kidney, pancreas and reproductive organs. In some cases, the tumors are benign (noncancerous), while in others they can be metastatic (cancerous). The rare disorder is typically first diagnosed in patients when they are young adults and often before they have any symptoms.
Many VHL Specialists in One Location
Waller’s physicians recommended she go the University of Chicago Medicine’s von Hippel-Lindau Disease Clinical Care Center, the only VHL Family Alliance-designated Clinical Care Center in Illinois and one of just 24 in the U.S. The goal of the Center is to provide coordinated and compassionate care across the wide variety of medical specialties that individuals with VHL must navigate.
Waller and her husband, Dan, were thrilled to find a place close to home that offered comprehensive evaluation and care for VHL patients. As a first step, they met with genetic counselor Sarah Nielsen, MS, CGC, coordinator of the VHL Center at UChicago Medicine.
From that point on, Waller says she never once worried about her medical treatment. "Sarah managed my care, from scheduling all of my scans, tests and appointments to telling us what to expect from a VHL diagnosis," she said. "I had complete trust in her and in all of my physicians and nurses."
Nielsen says that screening, diagnosis and treatment for VHL requires a lot of coordination and expertise. "Patients need frequent testing and visits with specialists." Nielsen said. "No one wants to come to a hospital for appointments every day. We schedule multiple appointments in one day and streamline communication among the designated physicians in each specialty."
MRI images of Waller’s head, neck, chest and pelvis revealed tumors in her pancreas, spine, and one of her adrenal glands, as well as a tumor adjacent to her aorta. These benign tumors were small and none had done any damage. But physicians from the multidisciplinary VHL clinic were immediately concerned about the tumor in the adrenal gland atop her right kidney and the one located on the right side of her aorta.
"The adrenal tumor, or pheochromocytoma, had the potential to secrete excess adrenalin which can bring on a heart attack, heart failure or stroke," explained Raymon Grogan, MD, an endocrine surgeon and co-director of the VHL Center. "The tumor next to the aorta, or paraganglioma, was also a neuroendocrine tumor capable of secreting adrenalin and possibly causing sudden death."
Grogan and Waller’s endocrinologist, Colleen Majewski, MD, agreed that the two endocrine tumors needed to be surgically removed. Grogan knew he could take out the pheochromocytoma laparoscopically (through small incisions using scopes) but was not sure he could reach the paraganglioma using the same technique. During the April 10, 2013 surgery, Grogan was prepared to shift to hand-assisted or open surgery following the laparoscopic procedure, but was able to resect both tumors using the minimally invasive tools.
Getting Back to Daily Life
Waller left the hospital two days later and was back teaching at the Trinity Irish Dance School, where she also serves as associate artistic director, within a few weeks. "I didn’t want to be sick, and I wasn’t going to be sitting around," she said. "Luckily, I have a supportive work environment."
Today, Waller says, VHL does not impact her daily life. "There are moments when I panic and worry," she said. "But if I think something is going on, I call Sarah and she tells me if I need to come in for a scan."
Grogan, Majewski and the other members of Waller’s medical team will follow Waller on a regular basis. Nielsen will arrange the regular scans and other exams to monitor for any change in the tumors in her spinal cord and pancreas and to check for new tumors in other organs.
"VHL was not interfering in my life before I was diagnosed," Waller said. "But now I’ll be proactive and take measures if something feels unusual."
She added, "My care at the University of Chicago has been absolutely remarkable. It is organized and managed so well. And all of my doctors communicate with each other. I could not be more grateful."
Waller also found resources and support through the VHL Family Alliance (VHLFA), a national non-profit organization dedicated to the disorder. Recently, she was named the Illinois Chapter Leader for VHLFA.