CURE® recently conducted an interview with von Hippel-Lindau (VHL) patient Joseph Heisler and his mother, Marirene. Joseph’s father was diagnosed thirty years ago with the genetic (inherited) disease. Shortly thereafter nine-year-old Joseph was diagnosed with VHL.

He recalls that he had about ten laser and cryotherapy eye operations. Cryotherapy is a procedure whereby exceptionally cold liquid freezes and destroys abnormal tissue. He also had two exploratory surgeries into his skull (craniotomies) and has survived kidney cancer.

His brother Michael had a resection (cutting out tissue) of his eye when he was only 7 years old.

As one can imagine, initially there was very little information about VHL. But now, three decades later, we have a drug that is approved by the FDA, plus a handbook on the disease published in two languages.

During the CURE® interview, Joseph remarked that the currently well-established VHL Alliance began with minimal resources. He said that participants had to search extensively for information.

Marirene added that any information they had was the result of her spending five days at the Library of Congress searching for any and all information on the disease. She said that they had no one to rely on with knowledge of VHL. She also said that it was rare that children as young as Joseph would be affected.

The VHL Alliance

Marirene started the VHL Alliance, formerly the VHL Foundation, to bring families of VHL patients together. The goal of the Alliance is to provide additional research on the disease.

Joseph is the ambassador for the VHL Alliance. He urges patients to continue to question other patients and clinicians about the disorder. He believes that patients should be their own advocates.

Joseph feels that patients can speak freely and honestly among themselves even more so than with their doctors.

Very Heroic Living

Joseph’s new podcast is designed to educate VLH patients about the disease and also how to ask the most effective questions. The podcast is called Very Heroic Living. Joseph also helped Marirene translate the VHL handbook into Spanish.

He explains that it is not a technical manual but information written by one patient to another. However, it still contains important medical information.

First-Ever FDA Approval

In August 2021, the drug Welireg (belzutifan) was given FDA approval. The drug treats VHL patients who are not in need of immediate surgery. That includes patients who have central nervous system hemangioblastomas, renal cell carcinoma, or pancreatic neuroendocrine tumors.

Joseph feels that he is lucky to be enrolled in a clinical trial for Welireg and hopes to be able to stay in the trial for an indefinite period. He said it is an oral medication and that he is experiencing far fewer side effects than he had after recovery from surgery.

About VHL

The disease is inherited and results from a VHL gene mutation. The VHL gene keeps cells under control (tumor suppression) and from dividing or growing too rapidly. Therefore, a mutation will preclude the production of VHL proteins or create an abnormal version of that protein.

Tumors can grow in many parts of the body and are usually benign (not cancer). However, tumors that develop in the pancreas or kidneys may become cancerous.

Looking Forward

Joseph now has time to spend with his family and work on his podcast but his primary goal is to help as many VHL patients as possible.