Rebecca’s story: Hereditary brain aneurysms
Rebecca is a mother to two children and lives in Leicestershire. She founded Hereditary Brain Aneurysm Support (HBA Support) in 2020. Rebecca was a founding member of the independent Participant Panel at Genomics England, joining in April 2016 where she held, until recently, the position of Vice Chair for Rare Conditions.

About brain aneurysms
A brain aneurysm is a swelling in the brain caused by a weakness in the wall of a blood vessel. The causes are still unclear, but identified risk factors include a family history of them, smoking, and high blood pressure.
Around 1 in 15,000 people
have a ruptured brain aneurysm in England each year
They can develop in anyone at any age
but are more common in people over the age of 40
Rebecca's story

Rebecca was first impacted by a brain aneurysm in 2009, when she got a phone call from her sister letting her know that their mother had suffered a double catastrophic brain aneurysm rupture. Rebecca was working in Germany and managed to fly back and get to the hospital in Leicester just before her mother’s life support machine was turned off. It was during this difficult time that an intensive care consultant told her “It wasn’t likely to be hereditary and I shouldn’t be too worried”. Rebecca’s mother passed away that morning and her life changed forever.
Years later, on the day that Rebecca and her first daughter moved back to the UK to begin life with her family once again in England, she received a call telling her that her uncle had been taken to hospital because of a burst aneurysm. Rebecca remembers “freezing and her blood running cold as she heard ‘that’ word again”. It was at his funeral a week later that Rebecca started to discuss the possibility that these aneurysms were hereditary and more than ‘bad luck’.
“I sat around with my sister and cousins, and we started to put the pieces of our family history together. We concluded that the picture we had built needed to be investigated. We started digging into our family history and soon discovered that multiple people from both our mother and grandmother’s generations had died from complications due to aneurysms or had vascular malformations. This was more than a coincidence; we had discovered a pattern that needed further genetic and clinical investigation.”
At was at this point that Rebecca embarked on months of research and a clinical and genetic journey that would last a lifetime. Her first stop after the family meeting was to her local GP who referred Rebecca onto a genetic counsellor and neurosurgeon.
Getting a diagnosis
Rebecca’s route into the 100,000 Genomes Project came after she had been diagnosed with an aneurysm herself through a brain scan. She joined the initiative, alongside her father, in December 2015, with their expectations managed that they may not get a result in the short or medium term, but that this represented the best chance of providing answers for their family. Nine years later, Rebecca is still awaiting a result.
Reasons for not getting a result can vary. For some people, this is because the gene which has caused their disorder has not yet been discovered. For others, it may be because the type of genetic variant causing their disorder is complex, or because there is more than one gene causing the problem and more work needs to be done to find them.
Rebecca says: “It’s a comfort to me knowing that my genome is part of the National Genomic Research Library and one day, researchers may be able to pinpoint the genetic spelling mistake/s that have caused myself and my family so much tragedy and heartache. The first death, that we know of, from an aneurysm in our family happened nearly 65 years ago with the loss of my maternal grandmother who passed away suddenly in her 30s, when she was pregnant with her third child. We have waited over half a century for an answer, and I hope within the next decade scientific advances will mean another generation of our family will no longer genetically be in the dark to what is causing this potentially deadly disease. These answers could lead to new treatments and open the door to genetic screening in families.”
Living with hereditary brain aneurysms
For Rebecca, after her clinical diagnosis, more brain scans and monitoring followed until one scan found that Rebecca’s aneurysm had grown. She then quickly underwent life-saving brain surgery and now undergoes screening every year. She is proud however to have changed the narrative from previous generations in her family.
Rebecca says: “I had to change our family’s story. It was important for my daughters and for the future generations of my family. A brain aneurysm no longer meant tragedy, but I was lucky to receive excellent care on the NHS and my life was saved. I was out of hospital within 48 hours and back to work the next week. I’m on medication and have regular check-ups but I’m lucky to live a normal life that aside. I also know how important access to screening and genetic testing will be for my daughters, given the family history.”
In 2020, Rebecca set up HBA Support to provide information and support for people affected by hereditary brain aneurysms and their families. This was partly driven by the fear that surrounds the condition and wanting a resource for those with HBA to find people like themselves, since Rebecca had found very limited resources for families like hers, and patients like her in the previous years when she had needed help and support.
Rebecca says: “It’s a silent disease that no one is talking about. Using my painful experience, I am committed to ensuring that other patients do not have to go through their stories alone. I founded HBA Support to inform people and patients living with familial brain aneurysms and raise awareness of the condition as a rare condition, representing the lived experience at every level, and improving and saving lives.”
Powering the Panel
As a founding member of the Participant Panel and Vice-Chair for Rare Conditions, Rebecca has worked for better patient and researcher partnerships, collaboration and understanding. She says this is critical for all those still waiting and needing a diagnosis and answers for their families.
“I believe that the future of healthcare and personalised healthcare is through genomics and our understanding of it. The technologies we have are truly amazing and whole genome sequencing can provide us with life-changing answers about our health.
“During my time at Genomics England, alongside my panel members, I worked hard to bring the patient experience and view into genomics, either through the Panel and our patient community, or through the large public consultations I’ve been involved in. We must always ensure we listen, learn and grow at a speed that is acceptable to the public but continue to push for considered innovation and greater, ethically focused discovery. There is always a tension between what we ‘could’ or ‘should’ do. The Participant Panel brings in the patient voice to answer these fundamental questions and many more.”