“I spent the majority of my life fearing the weight of VHL will eventually crush me, but thanks to this drug trial, not only do the rest of my fellow VHL patients have a glimmer of hope, so do I.”
Justin Corbin – former participant in a phase II clinical trial
VHL, or Von Hippel-Lindau Disease, is one of several genetic syndromes that cause tumors to grow in different parts of the body, In VHL, this includes the eye, spine, brain and kidney. These tumors may be benign or cancerous. Living with VHL means frequent scans to search for incipient tumors, monitoring existing tumors, deciding when to remove them, and then undergoing rehabilitation from the consequences of the surgery. Because those with VHL, will continuously develop tumors, physicians and patients are not as quick to remove them, in the hope of sparing the patients and their organs from near constant surgery.
Since the age of ten, Justin has been dealing with tumors- and by his early 30’s had had 12 surgeries to remove them, including a complex spinal surgery. Between the ages of 20-30, keeping up with these surgeries and the consequences of them was a major part of his life. VHL interfered with his ability to pursue his career aspirations in music and broadcasting. While this decade is challenging for many young adults –as they strive to live independently, find meaningful relationships, and test what they can do in the world- living these years with a rare, disabling, and unpredictable condition is beyond challenging. Justin was also providing support for his dad and brother who also had frequent VHL health crises. His dad had the first de novo mutation in the family which both Justin and his older brother inherited. VHL is inherited in an autosomal dominant fashion, meaning that one copy of the mutated allele is sufficient to cause the disease, and that each child, both male and female, has a 50/50 chance of inheriting it. Note that pre-implantation testing is now available for VHL. This procedure involves fertilizing an egg with the dad’s sperm, and then testing for VHL, prior to implanting it in the mom’s uterus.
Justin, his dad, and his brother have spent their lives in and out of doctor’s offices and hospitals. As difficult as this was for them, they have been a source of understanding and strength for each other and are an usually close family. The single saddest time in the boys’ life came when their father passed away a few years ago from complications following yet another major surgery.
Justin has received the majority of his care at the National Institute of Health in Washington, DC. A resident of the west coast, this has involved arduous travel, but Justin is very grateful for the excellent care. A research physician there told him about a clinical trial for a new drug called PT2977. Invited to join the phase I trial, Justin declined. Scanning, monitoring, and surgery were the established means of control for VHL. A Phase I trial is establishing the safety of a medication in humans.
A few years later however, with multiple, troubling brain tumors and a lack of certainty about which one(s) were causing his most distressing symptoms, Justin decided to re-visit the idea of participating in the trial. It was now in Phase II, and he had to work hard to get in. He is glad he did. The trial was an amazing success, and the medication now known as belzutifan shrank renal tumors, pancreatic neuroendocrine tumors, and hemangioblastomas (a form of brain and spine tumor), and in a few individuals, the tumors disappeared completely. Justin believes that the tumor-shrinking properties of belzutifan, now sold under the name Welireg, may turn out in the future to be useful for other tumors. He pointed out that the researchers who worked on it won a Nobel Prize in 2019.
For Justin, the drug – taken as a pill daily – has altered the course of his life. While the long-term effects of his previous surgeries are still difficult, he can now contemplate a better future, and he would like it to be one of service to others.
Justin hopes to establish a scholarship program and a non-profit in memory and honor of his dad.
I am a realist. I don’t know if Welireg is going to keep on working, but it has given me a more time to think about the future and to think about possibilities.”
For more information on VHL, including videos on WELIREG, contact the VHL Alliance at https://www.vhl.org/
