Anonymous community member
„VHL cannot be cured, but it can be outsmarted — with regular check-ups, early detection and the right treatment."
At 15 they operated on my eye, but no one knew what it was. Ten years later, back pain and an MRI revealed a tumor in the spinal cord — and Von Hippel–Lindau syndrome. This is my journey to a diagnosis.
From an eye change at 15 to a VHL diagnosis — my journey
At just 15 years old, I had a problem with my eye. They operated on me, but at the time no one knew what it actually was. Life went on; I thought it was solved once and for all.
Ten years later, severe back pain appeared. The doctor suspected the spine and sent me for an MRI. However, the scan did not show a spinal problem — it showed a tumor in the spinal cord. She immediately suspected Von Hippel–Lindau syndrome and sent me for genetic testing.
The result was clear: VHL confirmed.
When they then scanned my whole body, it was clear the disease had not arrived yesterday. Cysts on the pancreas. Cysts on the kidney. All of it had been there for years, quietly, without symptoms, waiting.
No one in my family has VHL. I am the first. That means a new mutation occurred in me.
Today I know what I am dealing with. VHL cannot be cured, but it can be outsmarted — with regular check-ups, early detection and the right treatment.
If you are reading this and have similar symptoms — changes in the eye, vague pains, cysts and tumors on internal organs — seek genetic testing.