I
noticed sudden vision changes around the age of 14 and was diagnosed with VHL when I was 15. It took 12 months, and many doctors, for me to get a diagnosis. My family were all tested for VHL and my biological father, Jim, and younger brother, both had VHL. My grandfather died from a brain tumour in his 40’s and my great grandmother died in her 40’s from a blood pressure related illness. I assume they were VHL related.
By the time I found out the reasons for my vision problems the retina in my right eye had detached and I had several tumours in both my eyes. I was almost relieved when I got diagnosed with VHL because I felt like I was losing my mind. Following numerous surgeries, the tumours were removed, however my retina could not be reattached, and I lost sight in my right eye. This happened during my final year of high school, and it was a difficult time to be in and out of hospital. All I really wanted to do was hang out with my friends and be like everyone else. I was told I would eventually need a prosthetic right eye and at one stage was told I may lose my sight completely. This impacted my confidence and caused a lot of anxiety. As time passed, I got used to vision in one eye, regained some confidence and decided I wanted to experience life to the fullest and went travelling when I was 18.
Whilst I was travelling Jim had several tumours in his left eye that required surgery and resulted in sight loss in that eye. He was also diagnosed with renal cell carcinoma due to tumours in his kidneys. Jim then died from a stroke after being given a blood thinning injection, which caused a brain tumour to bleed. Jim did not have regular screening and was not aware of the brain tumour.
I started having bad headaches and dizziness in my early twenties. A check-up a year earlier had shown a hemangioblastoma in my cerebellum, but my GP was convinced my symptoms were not related and told me I was having phantom symptoms. I once again went down a route of self-doubt. I tried to continue with life and ignore my symptoms and took lots of painkillers. I couldn’t walk to the bus stop to get to work without holding onto buildings, walls or railings and crossing the road was very difficult. My work colleagues noticed a change in me, and one morning when I could hardly stand, they called an ambulance to take me to A&E. An MRI showed the tumour had grown and I needed emergency surgery to remove it. The surgery was a whirlwind and I hardly had time to understand what was about to happen. I had not told my family how I was feeling due to what the GP had said so the whole experience was very difficult for them too. Recovery was slow after the surgery and even though I tried to get back to my regular life I struggled and had to move back in with my parents for a while.
Following the surgery, I was referred to a genetic clinic and started regular screening. I felt this helped me have control over VHL instead of it having control over me. Even though the numerous hospital appointments are time consuming and draining at times they have helped me. It meant I was able to have tumours in my eyes removed when they were discovered and not constantly worry about losing my sight.
For many years I had pain and discomfort in my blind right eye, which the doctors had tried to manage with different medications. Then in 2019 I started having vision problems in my left eye due to an epiretinal membrane caused by the number of surgeries over the years, this caused distorted vision and made everyday things like reading very difficult. I eventually had surgery in 2021 to remove the epiretinal membrane and then surgery again in 2022 to remove my painful blind right eye. I am pleased to say these surgeries were successful.
Regular screening has also identified a new hemangioblastoma in my cerebellum and four tumours in my cervical spinal cord, one of which has caused an edema with mild symptoms, this is being monitored closely. I also have several cysts in my kidneys and pancreas.
I am an advocate for regular screening and encourage VHL patients to do this. I know it can be difficult at times and interfere with both work and life schedules, but knowledge truly is power.
Even though I have struggled over the years with the physical and mental challenges caused by VHL I also feel like VHL has made me a stronger person and pushed me to make the most out of life.
