Our family was diagnosed with VHL in 1994 when my older sister, Melinda, was 19 and suddenly lost vision. Living in Coffs Harbour at the time, she was flown straight to Sydney where the ophthalmologist asked the right questions. My mum, had lost vision in one eye giving birth to me, which was put down to complication of birth, never investigated further. Her mother, my grandmother, passed away when she was just 34 years old from a brain tumour and was known to have kidney cancer. My grandmother was also paralysed giving birth to our mother, so there was obviously spinal involvement.
Upon hearing these things, the ophthalmologist asked if my younger sister and I were well children. I was 8, Greta 4. I had been very unwell as a younger child, and had recently been having a lot of fainting episodes, and turning very red. He immediately sent me to Royal North Shore hospital for a CT scan of head and abdomen. This revealed a large pheochromocytoma on my adrenal glad, that was strangling my aorta. I was very unwell and it was at this time, Von Hippel-Lindau was explained. Genetic testing was sent to Western Australia, and took a very long time to return the results. My mum Toni, 2 sisters and I all had VHL. Dad did not, which was not suspected but he was tested as we had not isolated our gene as yet.
From that time, our lives dramatically changed. We remained living in Coffs Harbour, so lots of travelling to Sydney for appointments and surgeries. We missed a lot of school but never fell behind. It was a lot of hard work on our parents behalf to keep our lives as normal as they could.
During our younger years, the main manifestations that Greta and I experienced were that of retinal involvement.
Melinda was however very unwell, basically since diagnosis. She lost her kidneys due to Renal Cell carcinoma and was on hemo dialysis. This caused permanent heart damage. She also had an adrenal gland removed due to a pheo, had spinal surgery and was legally blind after countless attempts to restore vision due to such a large amount of retinal angiomas and haemorrhages. After nearly 6 years on dialysis, in 2009, Melinda sadly passed away due to a simple hospital acquired infection. Melinda was the best big sister, always trying to set a good example for Greta and I with her positivity and fighting spirit.
3 weeks after Melinda’s passing, I had my last remaining bit of functioning kidney removed to recurrent Renal Cell Carcinoma. I had more than 10 tumours removed. I also required hemo dialysis and began to decline very rapidly. I have terrible, small veins, and this made access for dialysis very difficult. For this reason, my doctors advocated for me, finding evidence that VHL patients make great candidates for a transplant, as our disease does not invade the new kidney. After 6 months, my paternal aunty donated a wonderful kidney to me, a piece of hope.
I have had many surgeries and it can be hard to recall them all. They have all taken a massive toll on my body and with each one, I become weaker and more tired. I have had many many retinal angiomas in both eyes, which are treated with laser or cryotherapy, depending on size. I have had more than 7 craniotomies, for haemangioblastomas in different parts of the brain, including brain stem, cerebellum and fourth ventricle, one of which caused and irreversible brain injury. I recently underwent gamma knife radiation for 3 brain tumours that were deemed to dangerous for transitional surgery, they were on the pituitary gland, temporal lobe and again brain stem. I have had tumours removed from c1, c3, c5, t6, t11-t12. My scans still say innumerable lesions in cns.
I have a neuroendocrine tumour on my pancreas which I had stereotactic radiation to stop growth, which caused intestinal failure type 3. This has caused significant weight loss and nutrition issues resulting muscle wastage. My pancreas also has a lot of cysts which are being monitored. I have had an ovary removed due to large broad ligament cyst. I currently have an endolymphatic sac tumour which is being watched.
I have two children, both Boys, Xavier 17 and Leo 11. They both have VHL. Both boys have had retinal angiomas treated with laser. Xavier currently has a tumour in each kidney.
This medication, Belzutifan, could change their future and help them to live a more normal, productive life. Without this, Xavier will require surgery to his kidneys, and with the way my VHL has manifested it is such a fear, that he too will need dialysis and or a transplant. I want my boys and other Australians living with VHL to have options, not just damaging and exhausting surgery.
It is not just the operation itself, I spend so many months recovering, once, 6 months in rehab at the PA learning to walk, talk and even eat again. We need hope, and Belzutifan is that!
In 2022, at 69 years of age, we lost my mum. She had many surgeries to her kidneys and eyes, and they had recently found her catecholemines were very high, indicating adrenal involvement. VHL has taken so much from my family, but we will continue to fight to ensure the next generation has better treatment options available.
Thank you for reading my story
Amelia
38 year old VHL patient
