Rebecca Middleton shares a week in her life fuelled by coffee, inspiration and meetings.
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Rebecca Middleton founded Hereditary Brain Aneurysm Support (HBA support) in 2022 to support families and individuals living with familial brain aneurysm syndrome, a cause that's very personal to her. Rebecca has experienced the devastating impact of this disease first-hand, having lost her mother and grandmother to brain aneurysms. She also underwent brain surgery nearly five years ago, which has given her a unique insight into the challenges faced by patients and their families.

Monday

After a great half-term and a much-needed break with my family, it’s time to head back to school and back to the office.

Monday always starts with a planning meeting with our Engagement and Marketing Manager, David Salmon. We’re currently a small team, with a growing network of volunteers and specialist freelancers who support our work.

Tomorrow is Rare Disease Day 2023, so our week ahead is very special and very busy. David and I talk through our content plan, which includes launching a new blog with the support of 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. Rare Disease Day is a powerful platform for us to raise awareness of our condition as a rare disease in both the patient and clinical community.

In the afternoon, David and I have a key meeting with Mary Bythell, Rare Disease Lead, National Disease Registration Service alongside Emily Staricoff, Science and Technology Policy Officer for Rare Diseases and Emerging Therapies at the Department of Health and Social Care. We meet to discuss the opportunity and challenge of measuring the prevalence of familial intracranial aneurysms in England. Together, we talk through patient experience and the power of collecting data to drive understanding. There is a great deal of work ahead and we discuss the need to get a PHD student to help us unpack and understand the data further. Mary and Emily are both supportive of our work and we agree to keep our dialogue open and further share thoughts and ideas.

Tuesday

Today is Rare Disease Day! Our first as Hereditary Brain Aneurysm Support and I already know it’s going to be a great day.

Before I head down to London for Genetic England’s Rare Disease Reception at the House of Commons, I check social media, post and share on our channels and get involved in an important day for our community. I enjoy a coffee and moment to reflect on the train about how far HBA Support has come in the six-months since its launch last September, before I jump on the tube and head to Westminster.

Once inside, it’s a pleasure to catch up with Claudia Beard, a former Patient Participant Panel member at Genomics England a busy parent rep at SWAN UK as well as Matt Brown, Chief Scientist of Genomics England and other colleagues from the team too.

Meeting fellow rare disease advocates and leaders, who I have often seen and met in little boxes on Zoom, is fantastic – I love to see people face-to-face. And lovely to see Louise Fish too, the new Chief Executive of Genetic Alliance, and thank her for the invitation.

At the reception, we hear a powerful and personal story from Blessing Abdul about the need for more coordinated care, this year’s rare disease theme, and from Liz Twist MP and Helen Whatley, Minister for Social Care, who introduced England’s 2023 Rare Disease Action Plan. Louis Fish also shares Genetic Alliance’s report on Coordinated Care.

It truly was an inspiring afternoon to be surrounded by so many advocates, NHS specialists, DHSC rare leads, pharma rare disease leads, Genomics England colleagues and many more dedicated people supporting the rare community and committing themselves to pushing for improved care and diagnosis, greater awareness and shaping a better future.

There’s a long road ahead for HBA Support but today was inspiring and the day was rounded off beautifully when I drove onto my drive and found our house ‘lit up for rare’- a nice surprise from my husband and children.

Wednesday

Today I’m feeling a little tired after the excitement of London, so fuelled by a large coffee, David and I head onto a Zoom call with Professor Marion McAllister, Programme Director of the MSc in Genetic & Genomic Counselling at Cardiff University to explore research opportunities. We’re very excited about the possibility of one of her students looking at the family impact having a diagnosis of Familial Aneurysm Syndrome. As a rare disease patient myself, and through listening to the community and in my role as Vice-Chair of the Participant Panel at Genomics England, I am fully aware of the urgent need for more trained, genetic counsellors in the NHS today. Their work is so valuable and their support for families is critical when making personal, family and screening decisions on their health.

The rest of the day is spent catching up with emails before we jump on a Zoom with ‘Rarebase’, a US based, public benefit precision medicine company. We join the call with Dr Gibson, Professor of Medical Genetics at the University of British Columbia, and a Senior Clinician Scientist at British Columbia Children's Hospital Research Institute in Vancouver, Canada. We have had had the pleasure of working with international partners through ‘The Brain Aneurysm Foundation’ based in the USA and recently contributed to a webinar with them on the genetic foundation of the disease, along with Dr Gibson.

For now, our condition does not have a confirmed genetic foundation, but international research is happening to expand our growing understanding of the genetic base of our rare disease. HBA Support’s Targeted Literature Review, which we launched last year, has helped capture our genetic knowledge of the disease so far.

Thursday

Today is spent catching up on emails and then focusing on our fundraising. We’re delighted to welcome Charlotte Allen, our new fundraising consultant who joined the team this month. I took some time to look at our overall strategy which is in development and will soon go to our patient and expert board for their thoughts.

Aneurysms are often known as a silent killer, and we’re all about giving a voice to a silent rare disease, increasing awareness, and supporting families. Our fundraising activities, which includes our first-ever public sponsored event, will be fundamental in ensuring we’re sustainable going forward.

Friday

Today I’m wearing my Participant Panel representative hat for Genomics England and taking part in a naming workshop for its Newborn Genomes Programme. I’m on the steering committee as well as chairing a key working group of the study that aims to sequence the genomes of over 100,000 newborns. We’re working with a range of stakeholders, patients and clinicians to gather views and develop ideas for the name of the study. Lots of really good discussion and challenge this morning and I’m really enjoying being part of this co-designed study that is putting patients/families at its heart..

It’s nearly the end of a great week as I catch-up with my business partner about how it’s been for Middleton Davies. I’m very lucky to have a supportive business partner who is 100% behind HBA Support and understands my need for flexibility.

No two weeks are ever the same and reflecting back on this one for HBA Support, we’ve made some excellent connections, built some friendships and explored research and clinical opportunities, as well as fundraising priorities. I’m looking forward to a weekend with my family to restore the batteries and do it all again next week. I can’t wait!

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