Tumors Constantly Grow, 6 Surgeries Performed; Rare Disease Patient Calls for Accelerated Introduction of Life-Saving Drug

Taipei, Taiwan – April 21, 2024 – "I am not wearing a mask today because I want to show my true face and let everyone see how I have come this far." Lin Hsiu-chih, 63, who has been suffering from recurring tumors since the age of 28 due to the rare Von Hippel-Lindau (VHL) disease, bravely appealed today for the government to expedite the introduction of a new drug to halt tumor recurrence. VHL is not a traditional cancer but a rare genetic disorder. She has undergone surgery almost every decade. Lin Hsiu-chih attended the "VHL Patient Education Press Conference" today. Recalling 35 years ago, shortly after getting married, she suddenly experienced half-body numbness and weakness, dropping cups and bowls at home and work, and walking unsteadily. After medical examination, tumors were discovered. In 1990, she underwent her first surgery to remove a brain tumor, successfully saving her life. However, tumors continued to grow. She underwent Gamma Knife radiosurgery in 2004 and surgery to remove tumors from her cervical to thoracic spine in 2020. In 2025, she experienced a recurrence of a lumbar hemangioblastoma, causing lower back pain, hip pain, and numbness in her lower limbs, requiring another surgical treatment. It was around the third recurrence that physicians noticed the anomaly. After a series of examinations, Lin Hsiu-chih was diagnosed with VHL. Despite undergoing six major surgeries, including four for brain tumors and two for spinal tumors, she maintains a positive attitude, believing that knowing the cause of the disease is a good start. She even humorously views each hospitalization as a temporary rest. Her husband is her strongest pillar of support. "To be married to such a good husband," she said, she does not fear surgery or hardship. Her greatest worry is that if she is no longer around, her husband will have to face life alone. Von Hippel-Lindau (VHL) disease is a multi-system genetic disorder, with only 54 reported cases in Taiwan. Huang Jin-shan, a consultant physician in the Department of Surgery at Cathay General Hospital, stated that most of Lin's cases are likely from the same family. It is an autosomal dominant inherited disease, meaning her offspring have a 50% chance of inheriting the condition. Often, when one family member is diagnosed, it triggers a cascade of investigations within the family tree, like a hidden bomb. Huang Jin-shan explained that VHL is caused by a mutation in the VHL gene, leading to a loss of tumor suppressor function and abnormal blood vessel proliferation. Patients repeatedly develop tumors in different organs. Unlike typical cancer metastasis, VHL causes tumors to grow independently in various organs. Huang Jin-shan noted that patients often seek help from different departments due to recurrent symptoms in various organs. Before a VHL diagnosis, they may live in fear of tumors "reappearing like weeds after being cut, and sprouting again with the spring breeze," requiring multiple major surgeries for tumors in the brainstem, spinal cord, etc. Unfortunately, epidemiological data on VHL in Taiwan is limited, resulting in a low overall diagnosis rate, meaning a significant proportion of patients may remain undiagnosed. Huang Jin-shan stated that VHL is not an untreatable disease but a chronic condition requiring long-term follow-up and integrated care. Therefore, early diagnosis is crucial, especially for individuals with a family history, who should undergo genetic testing and regular imaging examinations for early detection. Historically, VHL treatment relied on surgery and imaging surveillance, which could not fundamentally inhibit tumor growth. However, in recent years, new targeted drugs have emerged internationally. This new drug was approved by the U.S. Food and Drug Administration (FDA) in 2022 and is already in use in the United States. It is primarily indicated for patients with kidney cancer or those with central nervous system tumors that cannot be treated surgically. For cases with recurrent tumors, the drug helps inhibit recurrence. Lin Hsiu-chih expressed her hope that the government would expedite the drug's approval in Taiwan, "giving me a chance to survive." (Edited by Li Shu-hua) 1150421