The research aims to understand how finding out about a VHL genetic diagnosis during childhood or teenage years may have affected people’s thoughts, feelings, and social experiences later in life.

The study is looking for adults (aged 18 or older) who were diagnosed with VHL through genetic testing as children—before they showed any symptoms.

The study will take place remotely, and all information you share will be kept private and handled according to Data Protection laws.

Study on the impact of a predictive genetic diagnosis in childhood on psychosocial experiences of adults with von Hippel-Lindau Syndrome (VHL).

Aim of Study:

To explore the psychological and social impact that receiving a genetic diagnosis during childhood or adolescence may have had on the later life experiences of individuals with VHL.

Potential study benefits:

To gain greater understanding of the lived experiences of these individuals as this topic has not previously been investigated in the English language.  Research in this field aims to inform patient-centred clinical service improvements.

Am I eligible to take part?

You can take part in this study if you are an adult over the age of 18 who received a genetic diagnosis of VHL in childhood before any symptoms of the condition were present or diagnosed. You must be able to speak and understand English to consent to take part in this research.

What do I have to do to take part?

If you are interested in taking part in this study, please contact the researcher directly, contact details below.  You will be provided the opportunity to discuss the study with the researcher and ask any questions.  If you subsequently decide to take part, you will be required to sign a consent form which will be securely stored at Cardiff University. 

The study involves an interview during which you will be asked questions about how VHL may have impacted your life experiences since your genetic diagnosis.

This will be conducted online using the MS Teams platform (or on request by telephone) and will last around 45-60 minutes. You will be able to decide when the most convenient time is, for the interview to take place.

All interviews will be audio-recorded either via MS Team or using a dictaphone for telephone interviews (with phone on loudspeaker) and stored securely on the Cardiff University server. Following the interview, you will have the opportunity to share any additional thoughts and experiences via a post interview questionnaire or ask any additional questions in relation to this project. 

Confidentiality:

All of your personal information and data will be securely stored on a password-protected computer.  All information will be anonymised, and pseudonyms (false names) will be used.

What will happen to my data?

The results of this study will be published as a student dissertation for Cardiff University.  The results may also be published in relevant peer-reviewed scientific journals.  They will also be shared with the VHL-UK-Ireland support group and participants of the study should they be interested in receiving them.  None of your personal information will be shared in any publications.

Contact details for registration: If you are interested in taking part in this research, please contact the researcher by email:

Researcher: Eva Farrell: farrellel@Cardiff.ac.uk

Throughout the month, individuals and families came together to share stories, spread knowledge and raise awareness. From heartfelt personal stories to informative posts about VHL, the online community truly showed its strength and compassion.

This surge in engagement not only increased understanding of VHL but also helped connect more people to vital resources and support networks. It’s a testament to how collective efforts can amplify awareness and foster hope for those affected by this rare genetic disorder.

As we reflect on this successful Awareness Month, let’s continue to keep the conversation going. Every share, comment and connection brings us closer to a future where VHL is better understood, diagnosed early and managed effectively.

Thank you to everyone who participated and helped make May 2025 a milestone month for VHL awareness. Together, we’re making a difference — one story at a time! 💙

As a small boy growing up in the 1960s there was never any reason given why my mother, an ex-ballet dancer, was in a wheelchair. No one, including her many medical consultants, knew why. It was not until the 1990s when my sister lost sight in one eye that finally, with the help of a visiting American doctor, their VHL was diagnosed.

In the 2000s in my middle age, I was living an active and adventurous life in Borneo leading multi-million-pound projects on issues from forests, peatland and climate change to conflict resolution, and became involved in the reconstruction in Indonesia following the Boxing Day tsunami. However, in 2007 I didn’t feel quite right, and at the suggestion of my father-in-law – who was a practising doctor in Perth, Australia – I went to Perth and to his medical colleagues in search of answers.

The visit to Perth found an orange-sized mass near my left adrenal gland. I returned later in the year to have it removed but lost my first kidney during the operation when a paraganglioma (a specific tumour external to the adrenal gland) was discovered wrapped around my renal artery and vein, and rather more than just my adrenal gland was removed.

At this point, I too tested positive for VHL. Little did I know this was the beginning of the regime of annual scans and regular surgeries that VHL patients come to experience. I also had laser surgery to remove a retinal tumour which felt as though I had been blinded under the harsh Australian sun when I left the ophthalmologists.

My next surgery was to remove a cerebellar tumour in 2012. This was successful and all the tumour was taken out. I recovered in about six months and was able to resume a normal life and continued to live in the back of beyond in Borneo with regular visits to the UK.

But at this time, I had cysts and tumours that would develop into kidney cancer (RCC) growing in my one remaining kidney, which were being monitored by scans. The preferred treatment keeps most of the kidney in place but my largest cyst/tumour was in a place in the kidney that meant I had to lose this last kidney, and with my wife returned to the UK in 2014 as monitoring became more frequent and I needed a transplant. On my wedding anniversary in 2017, I had my second kidney removed and was fortunate to receive a kidney transplant from my brother, who does not have the VHL gene.

Having recovered from that, life continued with consultancy work in Indonesia. However, it was not long before attention shifted to my cerebellum again and the next tumour that was growing there. This was blocking the flow of cerebrospinal fluid (CSF) through the ventricles of my brain giving me hydrocephalus and in 2019 I was given a shunt that allowed the excess CSF to drain into my abdomen. I was offered surgery on the tumour in 2019 but with my consultant we decided to see what the next scan brought. A mix up meant I missed my next scan and I began to develop the symptoms of headache, nausea and vomiting that I knew meant action was needed.

The tumour was now too big and vascular to safely operate, so I was given radiotherapy in mid 2020. This was successful in stopping the tumour growing but caused my brain to swell, putting me in hospital for four months. This was the time of Covid and I had no visitors, and I only saw my wife once during this period when the medical team did not think I would

survive a serious chest infection. Fortunately, I left hospital in 2021 and have not had any more surgeries since then, other than laser surgery on my left eye, which unfortunately was close to my centre of vision (fovea) and has led to a deterioration in my eyesight.

I am now left unable to walk unaided, and spend most of my time sitting on a sofa watching TV. I have had to retire early. I am lucky really, as my wife looks after me marvellously but she too has had to stop paid work because of my condition. My eldest son has the VHL gene and has himself lost the sight in one eye before he was thirty; he now has retinal tumours that need treatment in his other ‘good’ eye. He has had his first brain surgery already to remove a growing lesion. I am proud of him as he has raised thousands of pounds for VHL UK/Ireland and VHL Research including completing an Ironman last year.

We hope NICE will approve Belzutifan, as this is the first drug that gives us the hope that we might control those aspects of our disease that cannot be managed by surgery alone.

The other week I had the pleasure of chatting with Professor Marion McAllister (Senior Lecturer in Genetic Counselling & Course Director, MSc in Genetic Counselling at Cardiff University). This was recorded to show within the ‘Patient Perspectives’ part of their course. To give the students an insight into life with VHL, both the physical & mental impacts.

Full interview in the video below;

Written by Lily Meyers

A diagnosis of any kind can be shocking. It takes time to process, but a rare disease like von Hippel-Lindau syndrome (VHL) may need even more time to understand fully. VHL can affect much of the body and brain, which impedes mobility, memory, vision, and speech. There are plenty of resources on the physical implications, but the subject of mental health? Not so much. 

In a recent study, it was found that VHL affects all important aspects of life including careers, travel, family planning, finances, and social activities. More than 10% feel like all these factors have been impacted permanently. It also revealed the impact it has on carers, with factors of their lives also impacted either frequently or permanently.  

Understanding Von Hippel-Lindau syndrome 

VHL is a hereditary condition wherein tumours and cysts form in many regions of the body. These kinds of tumours can be benign or malignant. It usually manifests in early adulthood, but the early indications may emerge at any age. The average is 26.  

The kidneys, central nervous system (CNS), pancreas, retinas and adrenal glands are often affected,  but tumours can appear on other organs. Medical screenings can help detect it, and help to formulate the next steps.  

VHL and Mental Health 

Around 72% of rare diseases are genetic, making regular screening a must, but waiting on results can also be draining – the fear that the gene has been passed down is a constant companion. If this is the case, the guilt can be overwhelming.     

There are also changes that come with the tumours or repeated treatments. When things we once took for granted become affected, there may be a grieving of sorts. For example, the loss of mobility and vision. Reflecting on life pre-diagnosis can bring about a feeling called “loss of self”. Tumours can take their course quickly, and the changes associated equally as fast. This can be hard to get used to.  

The unpredictability of VHL can cause great anxiety and worry. An ‘out of control’ feeling can cause people to spiral into low moods, furthering potential isolation and depression. In fact, more people were recorded to have had permanent impacts on their mental health during treatment, as opposed to dealing with the symptoms of VHL. A 2022 study showed 3% of patients permanently suffered with clinical depression due to treatment, compared to 0% of those just coping with the symptoms.  

For those who are carers to people with chronic illnesses like VHL, it can be tough to remain positive. Especially in the face of declining health. 40% to 70% have clinically significant symptoms of depression.  

Coping with Chronic Illnesses 

There’s no cure for VHL. However, this doesn’t mean that there aren’t ways to cope.  

Finding people to relate to, whether online or in person, can be therapeutic in itself.  For example, support groups. These can help by giving a feeling of recognition and a sense of community. It can also help to share your story. (It might feel intimidating at first, so do so when you’re ready.) 

It’s not uncommon for people to conceal negative emotions but bottling it up can be damaging too. A trained professional can help work through difficult feelings and normalise opening up. 

Many would agree that staying social is important. But remember that your health is more so. Make time for yourself outside of therapy and support groups. Feeling helpless can be all-consuming, so make yourself a priority. People sometimes change their diet, take up exercise, or embrace meditation. Stressing about finances can put even more strain on mental health, so getting advice can help. More so if you’re concerned about those that depend on your income. 

Keeping on top of regular medical screenings must also become routine. It can be exhausting, but it’s invaluable for catching new growths and monitoring existing ones so that prompt action can be taken if needed.  

Respite care is also a valuable service for those with chronic illness and their families. It offers carers a break, allowing them to rest and recharge.  

Conclusion 

Understanding the mental impact of VHL may help in the dialogue for all chronic diseases. The hope is that it will lead to a better support system for patients going forward. For now, donations and funding for more research into fighting illnesses like these is a must.  

If you or someone you know has VHL, click here to see how we can help.  

References: 

https://www.healthychildren.org/English/health-issues/conditions/chronic/Pages/Dealing-With-Your-Own-Feelings.aspx

https://www.caregiver.org/resource/caregiver-statistics-health-technology-and-caregiving-resources/

https://www.mind.org.uk/information-support/tips-for-everyday-living/money-and-mental-health/the-link-between-money-and-mental-health/