21 years ago I found out that I had VHL at the age of 7.
Luckily for me I never had any symptoms to be diagnosed with VHL. However, my mum on the other hand was the reason I found out that I had the disease. At such a young age all I can remember was ambulances arriving outside our house week in, week out.
I remember the endless hospital visits to see my mum and being at home with my dad on our own. Little did we know that she was about to be diagnosed with a brain tumour and be given 6 months to live! Without another thought my mum opted for surgery to remove the tumour with a survival rate of 40%. After a long 8 hours of surgery and 3 days in ITU, the tumour was successfully removed and sent off to the lab to be tested, in which we found out that my mum was the carrier of the Von Hippel Lindau Gene, a condition in which tumours and cysts grow in various parts of the body (brain, spine, eyes, kidney, adrenal glands, liver), this condition affects 1 in 36,000 people and is usually hereditary, however you can be the rare case of the first carrier of VHL.
I was tested along with my Auntie, unfortunately the results came back positive, we both had VHL. My grandmother sadly passed away a little while after this, which we found out later that she was also a carrier of the VHL gene. Both my mum and dad sat me down and told me the news, all I remember was feeling numb and crying to my parents because of what I had seen my mum go through. I was reassured that I would be fine, and I would be checked yearly for any changes. In which the screening began. Yearly, CT/MRI scans, eye tests, the odd ultrasound and 24-hour urine samples!
14 years ago
I had been clear for 7 years, finished primary school and was in my second to last year of secondary school.
In September, I started with terrible headaches and high blood pressure which only seemed to get worse as the weeks went on. In November, I was admitted into hospital for an emergency ultrasound, in which a pheochromocytoma (tumour) was found in my left adrenal gland, the size of a golf ball! To be told this news at the age of 14 was soul destroying and the fact I was in the middle of my GCSE’s was even worse. The ball started rolling quicker than I thought it would and by the end of January I had the date for my operation; 8th February 2012. After 3 days in ITU and a further 4 days on a ward, I was discharged from hospital. I was told it would be 50/50 chance whether I was going to have another tumour in my other adrenal gland but it was very unlikely due to my age.
12 years ago
I had been clear for 2 years with my yearly check-ups in place to make sure everything was fine.
Until one day the headaches came back, not a normal headache but a headache that I remember experiencing 2 years prior.
After finally getting to have a specialised scan and an appointment to see my previous surgeon, I was told that I had developed a tumour on the opposite side. It was just like déjà vu with everything happening all over again, however this time I had multiple appointments with an endocrinologist to discuss the impact of having both my adrenal glands removed. This would mean that I would be on steroids for the rest of my life, which would change my life for the foreseeable for any small illness or infection.
I had my operation a week after my 18th birthday, I recovered considerably quicker than my previous operation. I quickly adapted to the tablets. However, who was to know that getting a sickness bug would be so concerning, having to be admitted into hospital. Being hooked up to a drip seemed so weird for something so trivial but I had gathered that this was in fact my life now and things were very different to what they used to be.
12 years later
Luckily, my health has been quite stable for the past 12 years, I have been told I have multiple hemangioblastomas (brain tumours), multiple spinal tumours and a tumour in my kidney which is monitored every 6 months due to it increasing in size. Unfortunately, the middle of last year, a change was noticed on one of my spinal tumours in which I underwent cyberknife (radioactive surgery) for this to be treated so this would stunt the growth of the tumour. None of the other tumours are currently causing me any symptoms or issues so are monitored yearly.
VHL has changed my life a lot due to the steroids I take daily, I have had to adapt my life around this, but it will never stop me doing anything that I want to do or what I can put my mind to.
Looking to the future with VHL, I still must be checked regularly for any changes in my current tumours or for any new tumours that may develop which unfortunately is only a matter of time with VHL. However, thinking of my future with my Husband and children, we will be undergoing PGD (preimplantation genetic diagnosis treatment) a treatment very similar to IVF, however this will eliminate the risk of passing VHL onto our future child. This isn’t an easy process by no means, but this will mean VHL will end in my family and our child will not have to go through anything myself, my mother, my auntie or grandma have had to experience in our lives.
Even though having VHL is horrible for everyone, I can say it has brought me some amazing friends who I am so grateful that I have met and spent so many memories with these people outside of the doom and gloom of VHL and being happy and enjoying life together! Even travelling to Italy with my longest friend (who also has VHL) to meet other VHL patients from across Europe.
My biggest blessing is having support from my Husband, family and friends and for having the strength and thankfulness for life in general to appreciate everything I have and my body being healthy between those scans each year.
