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! 💙

All VHL warriors family and friends who took part 🩵

VHL, HLRCC and BHD are all approved conditions. Note BHD is not in the online list but is in the more up-to-date download list.

Please note that in the UK NHS the genetic variant MUST be classified as Pathogenic or Likely Pathogenic. Variants of Unkown Significance (VUS) will be refused treatment.

https://www.hfea.gov.uk/

Some of these links may be to out-of-date documents – so information content should be thoroughly checked before making any plans.
geneticalliance.org.uk/information/service-and-testing/how-can-i-access-preimplantation-genetic-diagnosis/

England
https://www.england.nhs.uk/wp-content/uploads/2014/04/e01-med-gen-0414.pdf

Scotland
https://www.nss.nhs.scot/specialist-healthcare/specialist-services/pre-implantation-genetic-diagnosis/

Wales
https://whssc.nhs.wales/commissioning/whssc-policies/fertility/preimplantation-genetic-diagnosis-pgd-commissioning-policy-cp37-august-2014/

Ireland

PGD was not available in Ireland until recently.

These links are only provided as examples from Google. There is no endorsement by VHL UK/Ireland.

https://www.beaconcarefertility.ie/treatments-services/reproductive-genetics/pre-implantation-genetic-testing-for-disease/

https://merrionfertility.ie/pre-implantation-genetic-testing/

This landmark event marked the culmination of a many years of research but was also the starting point for much more research to unravel the function of the VHL gene product and that research eventually led to the development and a clinical trial of a new drug (belzutifan) for the medical treatment of VHL disease. Whilst there are still many more questions to answer and challenges to overcome in research into VHL disease, anniversaries do often provide an opportunity to look back and see how far along the journey we have come.

For me such a time was last year when we published the results of a national audit of most of the centres who look after patients with VHL disease:

https://www.nature.com/articles/s41416-022-01724-7

Interesting findings were that though there were differences between centres (e.g. the largest centre had almost ten times as many patients as the smallest), what was striking was that all centres were ensuring that their patients had access to the regular screening recommended for the surveillance of VHL disease. As a result, most of tumours that were found during the study period were actually detected by scanning before they were causing any symptoms. This finding was very different from a study I had reported before the VHL gene was found – at that time the majority of brain and kidney tumours were being diagnosed only after they had caused some symptoms. 

Despite the challenges the NHS is facing currently it is reassuring to know that the NHS does enable families with VHL disease to access the care they require irrespective of their financial status. Nevertheless, there is a pressing and urgent need to make further progress in early detection and treatment of VHL complications. Access to new treatments will hopefully come soon help but ongoing research will be required to see how these are best used and who will benefit most from them. Particularly for some of the rarer complications of VHL disease, there is still a need for more information on how to identify those that will progress and require intervention sooner. With support from VHL UK/Ireland, a national research registry for patients and families with inherited kidney tumour syndromes has been established and we are currently recruiting participants to the registry (see https://ukkidney.org/rare-renal/patient/inherited-renal-cancer-syndromes-0 or contact eamonn.maher@nhs.net for more details).

A long-term goal would be to be able to individualise screening and treatment to every patient so that scans might be focused more on those who will benefit most. Another ongoing research project (being performed with Dr Emma Woodward (Manchester Centre for Genomic Medicine) and scientists in California) aims to achieve this by investigating whether a new genetic blood test could be useful in detecting early stage kidney tumours in patients with VHL disease and related disorders. With the help of VHL UK/Ireland we have been able to recruit sufficient volunteers to the study and we are hoping to have the results of the research by the time of the next anniversary!

Eamonn Maher, Cambridge, May 2023

The NICE appraisal committee needs to know just what it is like to live with VHL and how it affects the wider support groups of family and friends.

As part of our submission, we have given them the link to our website where patient stories are posted:

The more stories they can read, the better it could be for the approval process. As we all know, VHL affects everyone differently, even within the same families, and we need to give the committee as many different versions as we possibly can!

Would you like to add your story to this page?

Would your family/friends like to add their stories of how VHL affects their lives too?

If you have already provided a story, is there more to add to bring it up to date?

If so, please email it (with a photograph if possible) to support@vhl-uk-ireland.org

Thank you so much for your help with this 💙💙💙

It gives us visibility in Europe as the UK and Ireland support charity.

Eurordis’ s mission statement is We empower, partner, and advocate for people living with a rare disease in Europe. It has a thriving community of over 1000 patient organisations.