Hello, I’m Rebecca and I was treated in 2018 for a brain aneurysm. It was found after screening in 2014 which I insisted on because I knew, tragically, that brain aneurysms run through my family.

Despite half expecting a diagnosis, it was still a shock when told on a cold October, Friday evening that I had indeed inherited an unwanted family trait. Very sadly, brain aneurysms killed my grandmother at the young age of 34 and my mum a few days before her 60th birthday. But it wasn’t until my uncle died from an aortic aneurysm that my family got together to discuss the possibility that these events might be more than just a coincidence.

As a mother of two daughters, I wanted to learn more to protect myself and my family. That’s why in 2014, I decided to go on a quest and put the pieces of the family puzzle together. I began with research into familial or hereditary brain aneurysms, and then came to the visit to my GP with my evidence and suspicion. He was unsure what to do with me, but he referred me on to a genetic counsellor and I decided to undergo private screening.

The brain scans revealed that I too had an aneurysm. This also confirmed my suspicion, it was more than coincidence, it was a genetic rare condition that now affected three generations of the same family. I was given the diagnosis of Familial Brain Aneurysm Syndrome by my neurosurgeon, confirmation that the condition ran through the family line.

Clinically, I underwent regular brain scans and regular monitoring of my aneurysms until 2018 when it was found to be growing and becoming unstable – at which point I had successful, life-saving brain surgery. My youngest daughter was only 1 year old at the time.

Genetically, there was and still is no genetic test for the condition as the suspected genes likely causing the disease have yet to be confirmed. Timing for once was on my side and through my local genetic team, I was recruited onto the ground-breaking Genomics England 100,000 Genomes Project. Soon after that, I joined its Participant Panel as a founding member and now sit as its Vice Chair. The project has offered me many things but, as of today, not a genetic diagnosis. My genome is now in the National Genomic Research Library and the project continues to offer me hope that one day a researcher will make a breakthrough using my genome and that of others with my condition in the library.

But personally, I was struggling. Like thousands before me with this condition and those with other rare disease, I felt alone. I knew that there were thousands of other patients ‘just like me’ – but I had no way of finding them.  There is no UK-based, patient and research-focused organisation that focused solely on brain aneurysms, let alone familial ones. Conducting my own family research was a bleak task. Google searches displayed hundreds of reports and studies all including bleak statistics and unanswered questions. In those dark days, no one was providing a light. When I was full of fear, there seemed little hope.

After my brain surgery, I vowed to change the narrative and change the journey for other patients and families walking in my shoes. Very quickly I realised that there was a real lack of helpful and reliable information on hereditary brain aneurysms. With support from Beacon and family, I decided to develop a patient and family-focused organisation that I so desperately needed at the start of my journey.

In September 2022, Hereditary Brain Aneurysm Support (HBA Support) was launched. It came from an idea that grew and was built on a passion to change the narrative and support patients and families. The not-for-profit organisation started with research. Brain aneurysms are a silent condition and can have a devastating impact on people’s lives. Currently, research suggests that if a person has a strong family history of brain aneurysms, they are potentially up to three times more likely to have the condition themselves.

However, trying to understand the condition took hours of research. What’s more, people’s experience of living with familial risk has played a limited role in research and has been often hard to find. HBA’s Targeted Literature Review (TLR) aimed to put that right.

Commissioned by HBA Support and carried out on a pro bono basis by Costello Medical, an expert healthcare consultancy, the report compiles literature on the rare disease in one, accessible, resource. The in-depth report looks at the reported pattern and distribution of familial intracranial aneurysms (FIAs), the genetic causes of FIAs and the current UK and global guidelines for its diagnosis, management and treatment. This had never done before in the UK and was a first for the clinical and patient community. The report also exposed gaps in knowledge – advocating for more research into the condition.

This has been a great launch pad for the patient focused organisation. Today, we advocate for empowering patients to make their own choices – knowing that screening isn’t right for everyone and pushing for more awareness of this rare condition clinically too. We are committed to better patient and researcher partnerships and utilising the latest technology for greater diagnostic analysis and understanding.

Through its strategy work, HBA Support scrutinised the patient journey, uncovering gaps from suspicion to diagnosis and treatment. This exploration revealed the absence of holistic care, prompting the HBA Support team to create resources to guide those diagnosed with, or at risk of, hereditary brain aneurysms. Future collaborations with professional bodies, including the British Society of Neuroradiologists, aim to provide patients with a clinical resource tailored to their condition.

We have also put together our research framework this year and are busy fundraising to enable us to employ a research manager. We have also had the pleasure of working in collaborations with MSc Genetic Counselling students at Cardiff University’s School of Medicine on three genetic guides for our community and will be supporting two further students next year with their MSc Dissertations on our condition.

HBA Support’s dedication to collaboration drove partnerships with groups like the Brain Aneurysm Foundation in the US and the Rare Diseases and Emerging Therapies team at the Department of Health and Social Care. The organisation’s involvement in membership networks like Genetic Alliance and Neurological Alliance facilitated peer support and knowledge exchange.

With our eyes firmly set on the future, I’m proud that HBA Support continues to be a source of hope, a driving force for change, and a beacon of light for individuals and families facing the challenges of hereditary brain aneurysms.

As for me, while my journey also goes on. I will regularly undergo brain scans to ensure my treated aneurysm is safe and to check if any new aneurysms have developed. We know through research that if you have a strong family history, your risk of getting another is higher and also being a woman increases the risk – and of course, getting older too. This means that my journey will never end. Taking my daily blood thinner is also a daily reminder of the journey I have been on and the precautions I must take on the road ahead. I have learnt to accept my rare, neurological condition but it has taken time to do this. Everyone’s journey is different – which is rather cliched and obvious to say. I have changed the narrative in my family’s story; now we have an aneurysms survivor, not just aneurysm victims – and that’s powerful. I’m truly grateful.