Raising awareness for familial brain aneurysm syndrome as a rare condition

HBA Support is marking Rare Disease Day 2023 on 28th February to raise awareness of familial brain aneurysm syndrome, a 'rare condition' affecting many families in the UK and worldwide.

Rare Disease Day is an annual event to raise awareness, bringing together the rare disease community: those living with genetic and non-genetic conditions; those with a diagnosis and those who may never receive one; newborns, children, and adults. Familial brain aneurysm syndrome is considered a rare condition, and so Rare Disease day means standing with the wider rare disease community to raise awareness and promote research for this condition.

What is a rare condition?

Rare conditions are those which affect fewer than one in every 2,000 people. And 1 in 17 people* will be affected by a rare disease at some point in their lives.  In the UK alone, this amounts to over 3.5 million people in the UK.  99% of genetic conditions are classed as rare and can be caused by a single gene variation, multifactorial, chromosomal or non-genetic.

While individually rare, rare diseases are collectively common. There are an estimated 7,000 different conditions, and owing to their rarity, people living with rare diseases face specific challenges with the health and care system and wider public services.

The need for more genetic research

Researchers looking into familial (or hereditary) brain aneurysms have found more than 30 genes linked to increasing the susceptibility to brain aneurysm development in families.  No single gene or multiple genes have been confirmed, but despite this lack of 'concrete' evidence, most scientists are confident that there is a genetic cause and that a breakthrough will come with more research.  While we are waiting for the genetic breakthrough, the condition is often labelled 'familial' by clinicians.  This means it's proven to be hereditary and runs through generations, often through the maternal side of the family.  Once we have a confirmed and accepted list of disease-causing gene variations, it will be classified as a 'genetic' condition.

Dr Julian Barwell, a consultant in clinical genetics at Leicester's Hospitals and an Honorary Professor in the Department of Genetics and Genome Biology at the University of Leicester, said: 

"Our view on familial brain aneurysm syndrome is developing as global research is published and our understanding of genomics grows.  We strongly believe there is a genetic foundation to the disease, but we need further work to find the cause of this rare disease and bring answers to the thousands of families affected by, and at risk of, this condition in the UK. 

I would like to pay tribute to the excellent work Rebecca and the team are doing both in terms of raising the awareness of this condition but also helping to develop and coordinate research into its causes."

How common is familial aneurysm syndrome in the UK?

Our recent Targeted Literature Review discovered that no one is counting the number of people or families with familial aneurysm syndrome in the UK.  Currently, there are no hard facts and numbers on how many people are impacted.  From information from the community and looking at global trends and global numbers, the prevalence of unruptured brain aneurysms in individuals with a family history of the condition has been recorded as 2.3%-29.4%.  This is higher than the prevalence in the general population, which is reported to be around 0.02%-8.8%**.  Again,  further research and action is needed to ensure we are counting the disease, measuring its impact, and putting the support and care families need in place. 

Our founder, Rebecca Middleton, says: "Sadly, I know first-hand the devastating impact of familial brain aneurysm syndrome on individuals and their families.  I lost two family members to brain aneurysms, and it has had a profound impact on my life.  I myself was diagnosed with an aneurysm and underwent successful surgery to treat it nearly five years ago.

"It's important to refer to this condition as a rare disease because it often goes undiagnosed or is brushed off as just "bad luck".  But, by acknowledging that it is a rare disease, we can raise awareness and encourage more research and funding to be dedicated to finding effective treatments.  In addition, it's vitally important to us at HBA Support to support those affected by this condition and to let them know they are not alone.  We believe that by building a strong community and network of support, we can make a positive difference in the lives of those impacted by familial brain aneurysm syndrome."

"As a rare disease, familial brain aneurysm syndrome can be challenging for families to navigate.  Many families feel there is a lack of information available, and existing research can be difficult to navigate.  HBA Support is working to change this by raising awareness for the condition and providing accessible support to those affected by it."

"We want to be a part of the amazing community of rare disease organisations and advocates who are working to make a difference," continues Rebecca. "We are building networks and links with other groups to drive awareness and knowledge, and we are proud to be a part of Genetic Alliance, Neurological Alliance, Eurordis, and Gene People."

On Rare Disease Day 2023, HBA Support encourages everyone to learn more about familial brain aneurysm syndrome and other rare diseases.  By working together and raising awareness, patients, clinicians, researchers, and healthcare practitioners can make a difference in the lives of those affected by the condition.


*Rare Disease Day 2023 - Rare Disease UK