From tragedy to triumph: Hereditary Brain Aneurysm Support

by | Oct 6, 2022 | Blog, Patient stories|Rare disease world

This week’s blog is written by Rebecca Middleton, Founder of the rare disease patient group, Hereditary Brain Aneurysm Support (HBA Support). HBA Support was founded in September 2022 in response to Rebecca’s personal rare journey. Rebecca shares her story below and how HBA Support came into existence.

In 2014, at the age of 36, I was shocked but not surprised to learn I had a brain aneurysm.

Very sadly, brain aneurysms killed my grandmother at the young age of 34 and my mother 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.

Wanting to protect myself and my young family, and put the pieces of the puzzle together, I began to research familial or hereditary brain aneurysms, undergoing brain scans myself.

Ultimately, I was to learn that I too had an aneurysm. And with the diagnosis of the brain aneurysm came the confirmation that I have Familial Brain Aneurysm Syndrome – that the condition runs through my family line on my maternal side.

My story has a positive outcome. After my diagnosis, I underwent regular brain scans and regular monitoring of my aneurysms until 2018 when it was found to be growing and becoming unstable. At this point, I had life-saving brain surgery – and am so grateful to my medical team who guided me through a difficult but successful procedure.

However, right from the start of my journey, I was challenged by a real lack of helpful and reliable information on hereditary brain aneurysms – and I realised this was an issue that others must be facing too.

My own experiences have led me to want to change things, and to improve access to information for other patients and their families. And to do this, together with my sister Emma, I launched Hereditary Brain Aneurysm Support (HBA Support) in September this year – a not for profit, patient centred organisation. We will support people living with familial brain aneurysms and raise awareness of the condition as a rare disease, representing the lived experience and ultimately improving and saving lives.

HBA Support is set up to work hand-in-hand with the medical and patient communities to advocate for improved support, better care and more research into the familial or hereditary condition.

One of our first tasks was to launch a Targeted Literature Review (TLR) – aiming to compile literature on the rare disease in one, accessible, resource for patients and the medical community alike. Carried out on a pro bono basis by Costello Medical, an expert healthcare consultancy, the new report looks at the reported pattern and distribution of familial intracranial aneurysms (FIAs), the genetic causes of FIAs and current UK and global guidelines for its diagnosis, management and treatment. Importantly, through conducting the TLR, existing gaps in knowledge were uncovered, signposting the medical community toward key areas where more research is needed.

I’m so excited to share my experiences and to help others through their journeys. It’s also the reason why I joined the ground-breaking Genomics England’s 100,000 Genomes project – as a founding member of its Participant Panel, where I now sit as Vice Chair.

I’m committed to advocating for the community and to help raise awareness of, and research into, this silent but potentially deadly condition.

Following our launch, we’ll soon be recruiting for a Patient Forum and Advisory Panel to support us as we develop and grow as an organisation. Visit our website and get in touch if you’d like to be involved!