Rebecca Middleton talks genomic research and the launch of HBA Support on the G-Word podcast.
To mark the launch of HBA Support, our founder Rebecca Middleton sat down with the CEO of Genomics England, Chris Wigley, to talk about her hereditary brain aneurysm journey, the potential of genetic screening and the urgent need for more research and information on the rare disease.
In this special episode of the G-Word Podcast, Rebecca recounts her story, which began in 2009, when her mum suddenly died from a brain aneurysm rupture. Told by the consultant that this was a one-off, unpredictable, event, Rebecca didn’t come into contact with the condition again until 2014, when she sadly lost her uncle to a ruptured aortic aneurysm. At his funeral, her family began putting the pieces together – learning that Rebecca’s grandmother and aunt both also had aneurysms - and realising that this was more than ‘just a coincidence’.
Connecting the dots between her family members’ situations, Rebecca embarked on a period of research. Recounting her experience, she says: “When researching brain aneurysms, unfortunately you build a very bleak picture, with the most prominent statistics around morbidity or living with disabilities after haemorrhage. I found that there was nothing out there about how to live well with an aneurysm, and crucially no advice on what to do if you suspect a familial pattern of brain aneurysms.”
Finding that her GP also lacked knowledge on the condition, Rebecca was eventually referred to a genetic counsellor and was diagnosed both with a brain aneurysm herself, together with Familial Aneurysm Syndrome which runs down her female family line. For Rebecca, the responsibility that fell on her shoulders was huge – both in dealing with her own diagnosis and in explaining to her family that a genetic condition had been uncovered.
The next few years saw Rebecca on a ‘watch and wait’ programme, where she underwent regular brain scans – and it was only in 2018 when her aneurysm was found to have grown, that surgery became the plan of action. Rebecca’s successful brain surgery took place later that year when her aneurysm was coiled and stented to prevent rupture. For the rest of her family, screenings were the order of the day, but Rebecca reminds us that screening is always a personal choice - and while many of her family members did get tested, others decided that they would prefer not to know.
Rebecca is now on a mission to improve support for people affected by this rare disease. She joined Genomics England’s 100,000 Genomes Project in 2015, and now sits as Vice Chair of the Participant Panel, advocating for the parent experience to be central to understanding the condition.
Inspired by her mentors at Genomics England, Rebecca and her sister Emma are today launching HBA Support, a new not-for-profit organisation on a mission to bring together easily accessible information and resources on the condition.
‘We’ve deliberately called it Hereditary Brain Aneurysm Support rather than ‘familial’” says Rebecca, “because we want to use language that everyone understands, not terms that you only hear in a medical setting.” Indeed, accessibility is the watchword for HBA Support, and the inspiration not just for its language guide (pdf is available to download from the Genomics England website), but also for the organisation’s new Targeted Literature Review (TLR).
Commissioned by HBA Support and carried out by Costello Medical, an expert healthcare consultancy, the TLR compiles literature on the rare disease in one, accessible resource. The report explores relevant trends, theories and methods, and importantly highlights gaps in knowledge – providing a starting point for further research into hereditary brain aneurysms.
Chris Wigley comments: “Congratulations on the report - so much work has gone into it and one of the biggest achievements is just how accessible it is. These topics are so technical and scientific, but elements like the explainers and visual graphics mean that everyone can access and understand the information within. It’s a real example of best practice for the industry!”
During the lively and informative discussion, Rebecca also talked about the Genomics England project into genetic sequencing for newborns, where she is also on the steering committee. She says: ‘Programmes like this have huge potential for improving the care available for rare diseases - but of course, we have to tread carefully and work together with parents – which is where the steering group and patient liaison comes in.”
You can hear more about the Genomics England programme on BBC Radio Four’s Woman’s Hour, where Rebecca was recently interviewed.