Shana Mayfield and her family were enjoying lunch at a restaurant in their Missouri hometown in the summer of 2019 when her cell phone rang. The voice on the other end was Gina Nuccio, a genetic counselor at St. Jude Children’s Research Hospital.
Shana navigated a gamut of emotions during the conversation, which was simultaneously affirming, terrifying and encouraging. It was the first time she heard the words von Hippel-Lindau (VHL) syndrome.
A few months earlier, Shana’s 11-year-old son, Jacob, had undergone surgery at St. Jude to remove a tumor from his right adrenal gland. Lab results showed that he had the rare syndrome.
Affecting about 1 in 30,000 children and adults, von Hippel-Lindau syndrome is caused by changes in a gene called VHL. Because the gene plays a role in the life cycle of cells, it can lead to the development of tumors throughout the body. Tumors can be benign or cancerous and can lead to complications such as blindness, hearing loss or death.
Jacob’s diagnosis meant the St. Jude Cancer Predisposition team would monitor him closely through annual scans and checkups.
Jacob felt much improved after surgery, competing in league basketball two weeks after the procedure. But there was still cause for concern. About 80% of people with von Hippel-Lindau syndrome inherit the gene mutation from a parent with the syndrome. Shana and her husband, Jody, never imagined they and their three children could be at risk.
Nuccio sent four sample-collection kits to the Mayfields for VHL testing. She called again with the unsettling results: Shana and their two youngest children had also tested positive.
People with the VHL mutation have a 50% chance of passing it to their children, but those odds reset with each birth.
“We weren’t anticipating that. If there are only about 10,000 cases in the U.S., you don’t expect that many people in one house to be positive,” Shana says. “When you get information like that, it’s frightening until you realize the value of the knowledge and that you have a head start.”
Nuccio assured the Mayfields they were in good hands, providing them with a roadmap of what to expect and offering to contact additional family members about screening. Many families might be hesitant to have their children screened in fear of more bad news, but Jody says the information was empowering.
“Throughout the whole process, we’ve tried to communicate with Jacob about what was happening, and his siblings have been involved,” Jody says. “We told them, ‘We are going to St. Jude and here’s why: We need to be on the lookout. You remember how Jacob got sick? Well, we want to make sure we are not going to get sick.’”
A strong network
After a diagnosis, St. Jude genetic counselors sit down with patients to answer questions and explain the testing and analysis that’s required.
Patients with VHL can develop tumors in the eyes, brain, spine, pancreas, kidneys and other areas. Jacob, now 14, and his siblings undergo annual scans at St. Jude. Depending on the child’s age, this tumor surveillance includes imaging of the brain, spine and abdomen; lab work; and a general physical exam. All three children are at risk of developing tumors throughout their lives. St. Jude also provides emotional health screening and coordinates care with primary care physicians.
“Several organs need to be checked and monitored, as opposed to maybe one or two with other syndromes,” Nuccio says. “With VHL, some people get tumors in childhood, some get them in adulthood and some never develop tumors — and we don’t really understand why.”
Monitoring and treating von Hippel-Lindau syndrome requires the efforts of genetic counselors and other specialists such as neurosurgeons, ophthalmologists and endocrinologists. The Cancer Predisposition Program launched six years ago at St. Jude, and now VHL is one of many cancer predispositions the hospital monitors and treats. But the Cancer Predisposition team believed they could do more.
The Cancer Predisposition team partnered with former St. Jude employee Kelsey Marx, a VHL patient herself, to apply to become a von Hippel-Lindau Clinical Care Center through the VHL Alliance. The alliance works to improve awareness, diagnosis, treatment and quality of life for patients and families affected by VHL.
In September 2020, St. Jude became the first and only VHL Alliance–recognized Clinical Care Center dedicated solely to children.
“As a VHL Clinical Care Center, we can offer expert care with our dedicated colleagues in each of the subspecialties,” says Kim Nichols, MD, director of the St. Jude Cancer Predisposition Division. “Patients can have their care managed in one place, and our hope is that this will enhance the treatment experience of our patients and families.”
Because VHL is so rare, having a dedicated team of physicians also benefits the care providers, who gain valuable expertise and experience with this disease through their work. Nichols lauded the St. Jude team, stating that each person who was asked to participate was glad to join the effort.
With the new VHL Alliance designation, St. Jude is able to serve more patients and families. The alliance also offers a variety of resources to enhance providers’ efforts and improve experiences for families.
“We are honored to partner with St. Jude, and we look forward to the life-changing impact this collaboration will make in the lives of children and families affected by VHL,” says alliance director Chandra Clark.
In addition to providing holistic clinical care for VHL patients, St. Jude promotes awareness and provides education about the syndrome. In December 2021, VHL will be the focus of the Cancer Predisposition team’s third annual family conference.
The virtual event will feature both national and St. Jude experts who will provide detailed backgrounds of the origins of VHL, disease types, living with VHL, treatment options and surveillance efforts. In addition to attending educational sessions, families can share their stories and interact with each other.
“Many of these families have never met another family with VHL,” Nichols says. “We want them to know they are not alone. There are other families like them with similar stories, and we want to provide opportunities for them to network.”
The Mayfields plan to log in to the two-day conference. They say they look forward to a day where VHL diagnoses are caught even sooner.
“This will help some families have that information before their child develops a tumor or becomes sick. Had I known I had VHL when I was pregnant with Jacob, we would have started testing when he was born,” Shana Mayfield says. “St. Jude is going to keep taking this forward. When people learn they have VHL, they are going to be 100 steps ahead of where we were when we found out.”
From Promise, Summer 2021