All VHL warriors family and friends who took part 🩵

It’s not a rundown anyone would want to list, but it’s the reality for Georgia who is living with a very rare genetic condition causing multiple tumours and cysts across her body.

They’re not cancerous – at the moment – but the genetic condition has life-limiting issues for the 34-year-old who was diagnosed three years ago.

Georgia, who works for ESNEFT as an executive assistant, said: “I had no idea I had the condition until I went to New York and felt dizzy on the plane. The dizziness didn’t really stop, so I ended up going to my doctor and initially it was thought I had an inner ear infection.”

After various medical appointments and a MRI scan, Georgia was told she had a brain tumour.

“It was such a shock – my body went completely cold. Nothing really prepares you for news like that.” Georgia said.

Georgia was referred to Queen’s Hospital in Romford for more specialist treatment where the 3cm tumour, which was a hemangiblastoma, was removed in October 2019.

Georgia, who is married to Lee who also works at ESNEFT in IT, said: “When they found it initially it was 2cm and I was told it was slow growing, but by the time I had surgery it was 3cm.”

A full body scan then revealed another tumour on her pancreas and concerns around the reason why they were developing began to grow.

Georgia added: “There were investigations and medical appointments looking into what was going on over the next year.

“Lee and I wanted children and we decided we just had to go for it – so I was really pleased when I fell pregnant in February 2021.”

It was while Georgia was pregnant the rare genetic condition Von Hippel-Lindau (VHL) disease was mentioned. Although no one in Georgia’s family had the condition, tests confirmed the diagnosis. It also meant a 50% chance she could pass it onto her unborn son.

Georgia said: “It was incredibly worrying thinking he might have it too. I also found out I had two more tumours, or cysts as they’re sometimes called, on my spine – so I had to have a general anaesthetic and c-section.

“I hadn’t really contemplated the sheer impact on my mental health and it was a huge relief when Remy was born healthy – but grunting due to the anaesthetic. We still had weeks to wait to see if he’d inherited VHL from me and that was one of the hardest things.”

Fortunately three months later Georgia had the best Christmas gift ever when it was confirmed by Great Ormond Street Hospital that baby Remy hadn’t inherited the condition from her.

Today Georgia’s condition is monitored closely and she has regular scans going to various hospitals including Barts and Moorfields for her eyes.

She’s had eye tumours lasered off, cysts removed and tumours she still has are monitored for growth. She’ll never recover from VHL and it’s a life-long condition which is exhausting physically and mentally.

She said: “The mental trauma has been enormous. I can’t face joining specialist groups – Lee has done that for me and I’m tired so much of the time. I also still get dizzy and off balance a lot.

“It’s been a lot to process – but I want to raise awareness and let people know this exists, because it’s such an unknown condition and more people need to know and more research needs to be done.”

Georgia and her family are now training towards the Clacton 10k Sunday 20th August 2023 to raise money towards research into VHL. To sponsor Georgia visit her Go Fund me page: https://gofund.me/c3c35966

Symptoms of VHL range from dizziness, balance issues, headaches, weakness of limbs, issues with vision, deafness or high blood pressure. It’s thought only 1 in 35,000 people have the condition.

VHL #VonHippelLindau

The charity has recently made a £20,000 donation to the Francis Crick Institute to help with their research into the VHL gene. This was made possible by a large fund-raising donation from Mr. Charles White.

In October 2022, the trustees were invited to London to view this incredible facility and to hear from the researchers about the work that they are doing.  Charles was able to join us for a short time via video link.

There are two amazing research teams working on VHL at the moment:

From Greg Findlay’s Team:

Our research team at the Francis Crick Institute in London wants to understand how specific genetic changes lead to different cancers. One perplexing feature of VHL Disease is that patients are predisposed to different tumours depending on the exact VHL mutation (or variant) present in their DNA. Despite the fact the VHL gene has been well researched, we still don’t know the extent to which each mutation in VHL is unique. Furthermore, some patients are deemed to have “variants of uncertain significance”, or VUS, in the VHL gene, meaning it’s unclear whether their unique mutation leads to disease, and if so, which features of disease are likely to be seen. If we can learn more about each specific VHL mutation, this knowledge will have a positive impact by reducing the uncertainty caused by VUS and enabling precise treatments tailored to specific patients.

 With the help of others, Megan Buckley in my lab has leveraged funding from VHL UK/Ireland to engineer all possible variants in VHL using CRISPR technology. This technological feat allowed us to systematically measure the effects of over 2,000 different VHL mutations in human cells grown in lab. Our data constitute a powerful resource for understanding which VHL mutations lead to cancer and why this happens on the molecular level. We are now integrating these experimental results with data from patients to move towards our overarching goal of improving diagnosis and management of VHL Disease.

From Geoffrey Feng’s Team:

Patients with VHL disease develop tumours in different organs, including the kidney, pancreas and blood vessels. However, the affected organs in individual patients vary, which correlates with different inherited VHL gene alterations along with the genetic background. Currently, it is not understood why and how a specific inherited VHL gene alteration (germline mutation) in a particular patient leads to the development of tumours in certain types of VHL disease-affected tissues but not others. 

We collect blood from VHL patients with different VHL germline mutations, and reprogram the blood cells into induced pluripotent stem cells (iPSCs). We can infinitely grow these iPSCs, as well as use genetic editing tools to either correct the inherited alteration, or remove the other copy of VHL gene, which models the first step in the VHL tumour development. More importantly, we can induce (differentiate) iPSCs to become cells of VHL disease-affected organs, including the kidney, pancreas and blood vessels for further gene expression analysis.

Together, we aim to understand for each patient in our representative cohort how the germline VHL mutation either alone or with the removal of the other VHL copy prime the tumour formation in specific organs at the gene expression level. With more patient-derived iPSC lines characterised through this workflow, we can find and test the factors that prevent certain tumour formation in particular patient groups. Finding the differences between the phenotypically different patient groups can provide novel therapeutics insights on how to stop the tumour development of certain VHL-affected tissues in the context of certain VHL germline mutations. 

As always, we find that researchers love meeting patients as much as we love meeting them – we are amazed by the work that they are doing; and it really helps them to discuss VHL with people who live with the reality every day. We would like to thank everyone at the Crick for making us feel so welcome that day, taking the time to show us around the labs and to explain their work to us.

By the time I found out the reasons for my vision problemsthe retina in my right eye had detached and I had severaltumours 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 newhemangioblastoma in my cerebellum and four tumours in my cervical spinal cord, one of which has caused an edema withmild 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.  

My story has lots of ups and downs, but more importantly I wanted to show what living with VHL has been like for me. It has taken me weeks to write this story, as putting it down on paper has been so upsetting.

I turned 50 a month ago and it has been a very long journey with VHL. Not only is my body tired out, I am also emotionally tired out too. I keep being reminded that life expectancy with VHL is 49-50 years old. My mum is over 70 as are her living siblings. Some have passed away as a direct result of VHL and that’s very scary. Many individuals bounce back, but many others don’t, and no-one realises the impact it has on those of us living with this condition – both physically and mentally. 

I was first told I had VHL in 1993 (when aged 20 years), initially following eye problems which led to a retinal detachment, and a brain tumour which was removed. Since then, I have had multiple manifestations in my brain, kidneys, spine and eyes. I’ve had a partial nephrectomy to my kidney, 2 spinal tumour operations, 3 retinal detachments, a cataract removal, 9 brain surgeries, plus gamma knife surgery to the brain, insertion of an Omaya reservoir, VP shunt. With the VP shunt, I had to have an ICP bolt fitted first to monitor the pressure. I have also had Rapid Arc SRS radio surgery (radiotherapy).

In addition, I’ve had so many “procedures” done to my brain and eyes I’ve actually lost count – and that is on top of the 24 surgeries to date, while number 25 is scheduled for my eye in the next month or two.

I currently have a tumour in my spine, several cysts in my kidneys that seem to be growing (a few are more than 3cm) and a couple in my brain that seem stable. However, I have a further brain tumour that is causing problems – It is located at the base of the cerebellum (posterior fossa)- resection of this residual tumour is not currently a viable option, and at best carries significant risks. I had gamma knife surgery to it initially as far back as 2012. It helped and stopped its growth for 7 years before it started growing again and causing problems. I then had an Omaya Reservoir fitted in 2019 to drain the cystic component (followed by a dozen or so procedures to drain the cystic fluid), and then radiotherapy in 2020 to halt the tumour growth. It is now “stable” but how long that will last no one knows. 

Any potential future surgery, if required, to remove the posterior fossa and other brain tumours may prove particularly difficult given the quantum of previous neurosurgery. Additionally, I may potentially need further kidney surgery in the next year or two. The spinal nodule I have has grown a bit but is stable I’m told, and I hope it stays that way. 

Each day to me is like playing Russian Roulette, where I hope that there is no growth spurt in any of the lesions/ manifestations which would necessitate additional surgery. It is both physically and emotionally draining due to the unpredictability of VHL tumour growth and the varying symptoms. 

The array of physical impairments that I have as a direct consequence of VHL is vast, and their impact on my life is immense but the impact has become the “new normal” over time, and to some extent it is like living with garish wallpaper – the homeowner does not realise the wallpaper is so awful, but a visitor sees it straight away.

– I can no longer write (I’m right handed) so my phone is my new best friend. I type with my left thumb now. 

– There is nerve damage caused as a function of radiotherapy for posterior fossa tumour- this is distinctly different to constant pain in my left arm caused by spinal surgery nerve damage. 

– I also have numbness now in the right side of my face after the radiotherapy.

– My short-term memory is depleted, and I have ‘brain fog’ due to the posterior fossa tumour pressing on brain tissue. 

– I also have problems with balance and have graduated from walking with a frame, to very short distances on a good day with a stick and may partner at my side, andneed a wheelchair (which I hate) for anything longer or a route with turns. 

– Other problems are my stamina which is non-existent, my sight loss in my left eye, occasional chest pain caused by the VP shunt tube, nausea, my 24/7 pain in my left arm, loss of appetite, tiredness, my self- esteem, fear, anxiety, depression etc…. the list goes on.

On a positive note, I have a great fiancé, family and friends. I’ve also had amazing doctors and nurses. I have a roof over my head and food to eat, so am very fortunate. 

There is the hope of a new drug called ‘Welireg’ that’s available only in the US but shows such promising results. It has MHRA approval here but not NICE approval. I hope that it is approved here soon as I don’t think my body can take more surgery. It’s a real struggle daily and no one realises how much the little things in life matter as they are always taken for granted until they are snatched away from us.

I read something yesterday which I find very true- Michael J Fox was talking of Parkinson’s Disease but it is equally true of VHL ‘The message is so simple, yet it gets forgotten. The people living with the condition are the experts’