For over a year, I endured relentless shooting pains in my head. Despite numerous visits to my GP, referrals for physiotherapy, and trials of various medications, nothing provided relief. After nearly 18 to 20 months of exhausting different treatment options, I finally saw a consultant who arranged an MRI, suspecting a nerve issue in my neck given my age – just 32 at the time.
I left the clinic after my scan, only to be called back just hours later. That’s when I received the news: I had a left cerebral hemangioblastoma. Just 13 days later, I was in surgery, and thankfully, my surgeon was able to remove it entirely – confirmed by a clear scan three months later.
In preparation for surgery, I also underwent a CT scan, which revealed areas of concern in my pancreas. Further MRIs and tests uncovered extensive cysts, the largest measuring around 3cm, as well as a neuroendocrine tumour on the head of my pancreas. Given this combination of findings, my medical team suspected von Hippel-Lindau (VHL) syndrome, prompting genetic testing in early August.
Nearly ten weeks later, in October, my results confirmed the diagnosis – I had VHL. My siblings, including my twin, underwent testing as well, but none carried the gene, meaning I was a de novo case.
Since then, I’ve discovered a small hemangioblastoma on my spine at T11, and in April of last year, after experiencing more headaches and feeling unwell, I learned that the hemangioblastoma in my cerebellum had regrown. In July, I underwent stereotactic radiotherapy, and my three-month post-treatment scan in October confirmed the tumour was stable. Last year’s MRI showed stable too! My next MRI, scheduled for this July, will assess whether it remains unchanged still – I’m hoping for good news! On a brighter note, late 2024, we finally tested my son for VHL. Because I was diagnosed after having both of my children, the uncertainty had weighed heavily on me. Fortunately, his results came back negative – a massive relief! My daughter was also tested earlier this year and was thankfully negative also!
