Batten Disease Family Association

Batten Disease Family Association The Batten Disease Family Association CIO (BDFA) was formed in 1998 and gained charity status in 2001.
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We are here to support families affected by Batten Disease, to give support to professional carers and fund research to find a cure.

🧩 A new piece of the Batten disease puzzle – revealing connections across multiple formsWe’re excited to share important...
16/09/2026

🧩 A new piece of the Batten disease puzzle – revealing connections across multiple forms

We’re excited to share important new research, jointly funded by the Batten Disease Global Research Initiative (BDGRI) and NCL Stiftung, and now published in the prestigious journal Nature Cell Biology.

Led by Dr Kasparas Petkevicius at the University of Cambridge, the research reveals that CLN8 plays a key role in producing ‘BMP’, a specialised fat molecule that helps keep lysosomes - the cell’s recycling centres - working properly. The study shows that CLN8 and CLN5, two different Batten disease proteins, work together to make BMP.

Importantly, researchers also showed that the biochemical defect caused by loss of CLN8 could be bypassed experimentally, providing an exciting early foundation for future therapeutic research across multiple NCL forms.

Congratulations on these exciting results, Dr Petkevicius and team!

🔗 Read our summary and link to the article here: https://tinyurl.com/3m2fvbd9

BDSRA Foundation Batten Disease Support & Research Association Australia NCL Stiftung BDSRA Canada

🔸Can you help us to improve the way people receive genetic results?🔸Do you know someone who has received a genetic test ...
16/09/2026

🔸Can you help us to improve the way people receive genetic results?

🔸Do you know someone who has received a genetic test result, or work with people who have?

We know that many of you have received genomic test results while you were driving, on the school run and even at work. That’s why we are supporting the NHS South East Genomic Medicine Service in their quest to improve the way people receive their genetic results.

To do that, we would encourage you to complete this short survey about your personal experience of receiving your genetic results.
They want to hear the positive, the challenging and everything in-between. The more feedback they get, the more improvements they can make.
➡️➡️Find the survey link here: Patient Survey: Improving the delivery of genetic results – Fill out form
https://forms.cloud.microsoft/Pages/ResponsePage.aspx?id=slTDN7CF9UeyIge0jXdO410IFaMrljtAru1hzTO0yP1UMEtROTgxRkpPNExGVDA4QjVLNFFDUVpVVi4u

🔶💫🧡CONGRATULATIONS & THANK YOU to Team Rosie!🧡💫🔶While our Great North Run teams were taking on their challenge this week...
15/09/2026

🔶💫🧡CONGRATULATIONS & THANK YOU to Team Rosie!🧡💫🔶

While our Great North Run teams were taking on their challenge this weekend, we also had another amazing group of people doing something truly remarkable for the BDFA...!

Team Rosie took on the Thames Path Ultra Challenge, walking through the day and night in an attempt to cover an incredible 100km in 24 hours in honour of four-year-old Rosie, who lives with CLN2 Batten disease.

Thirteen people signed up to take on the challenge, Rosie's parents Emma and Max among them - 10 took to the start line and six completed the full 100km. Together they walked through the night without sleep, supporting and encouraging each other through every stage.

Team Captain Cassey, a close friend of Emma and Max whose daughter is Rosie's best friend, organised the team's fundraising and brought everyone together. Explaining what kept her going through the challenge, she said:

"So many parents, including Emma and Max, barely get any sleep every single day and still have to find the energy to look after a disabled child. This was for them."

🧡🧡🧡

Team Rosie has completely blown us away. The determination, friendship and love behind this challenge is incredibly moving, and they have also raised an absolutely staggering £27,000 and counting for the BDFA.

It is difficult to put into words just how much this means to us. Fundraising like this is vital in enabling the BDFA to continue our work supporting families affected by Batten disease, advocate for policy change and raise awareness. We are so grateful to every member of Team Rosie and to every person who has donated, shared their story or supported them along the way.

Whether you walked 100km or were a part of the journey for as far as your body would take you, Team Rosie, you should all be enormously proud!💫👏

The love this wonderful group of friends has for Rosie, Emma and Max is palpable, and seeing a community come together around a family in this way is very special.

Congratulations, Team Rosie, and from everyone at the BDFA, our heartfelt thanks🧡

Here are just some of the moments from their incredible journey, from the start line, through the long miles and darkness of the night, to the finish!

Join the NHS South East Genomic Medicine Service and Unique on Wednesday 16th September 2026 at 12-1pm on Teams to celeb...
15/09/2026

Join the NHS South East Genomic Medicine Service and Unique on Wednesday 16th September 2026 at 12-1pm on Teams to celebrate the launch of “Finding Your Way: A Parent's Guide to Rare Disease”. Written by parents, for parents, this new guide offers practical support, trusted resources and hope for families navigating a rare genetic condition.

The event will be hosted by Sarah Wynn, CEO of Unique and Frances Elmslie, Consultant Clinical Geneticist.

Hear the stories behind the guide and learn from parents and authors Adam Clatworthy and Melanie Dixon about their own quest to find the right support. They will be sharing their personal experiences to help families to feel less alone.

Everyone is welcome to join!

You can register here: Finding your way: A Parent's Guide to Rare Disease

9d030b26-288c-4271-b228-36be8af31302@37c354b2-85b0-47f5-b222-07b48d774ee3" rel="ugc" target="_blank">https://events.teams.microsoft.com/event/9d030b26-288c-4271-b228-36be8af31302@37c354b2-85b0-47f5-b222-07b48d774ee3

💫🧡🩷 A huge THANK YOU and WELL DONE to our incredible Great North Run teams! 🩷🧡💫Yesterday was such an inspiring day, and ...
14/09/2026

💫🧡🩷 A huge THANK YOU and WELL DONE to our incredible Great North Run teams! 🩷🧡💫

Yesterday was such an inspiring day, and we couldn’t be prouder of everyone who took on the Great North Run to raise awareness of Batten disease and vital funds to help support families affected.

🧡 Team BDFA took to the course in BDFA orange, running in loving memory of Amy Hughes.

🩷 Team Rich were in stunning pink, running in support of both the BDFA and the Nicole and Jessica Rich Foundation!

Our CEO, Liz, was there to greet some of our runners after they crossed the finish line, and she was blown away by the determination, positivity and enthusiasm of everyone she met. Taking on a challenge like the Great North Run is a huge achievement, and the dedication shown by every member of both teams, throughout their training, fundraising and on the day itself, has been really incredible!

And what an impact they have already made! Together, Team BDFA and Team Rich have raised more than £11,500 so far! 🎉

We’ll share the final fundraising total in due course, but for now, we want to share our heartfelt thanks. To all of our runners, and to everyone who supported them - through donating, sharing and cheering them on - we are so grateful. 🧡🩷

We hope you enjoy some of our favourite photos from an unforgettable day🏅🏃🌟

If you're feeling inspired, we’d love to have you on our team next year! Get in touch with our Fundraising Team to register your interest for the Great North Run: [email protected].

Introducing Poppy and Robyn, who are running the AJ Bell Great North Run on Sunday for the BDFA and in memory of Amy 🧡Go...
11/09/2026

Introducing Poppy and Robyn, who are running the AJ Bell Great North Run on Sunday for the BDFA and in memory of Amy 🧡

Good luck to you both from all of us at the BDFA! We're sure it'll be a fantastic experience as always! 🏅🤩

You can support Poppy and Robyn by donating to their fundraising page here: https://ajbellgreatnorthrun2026.enthuse.com/pf/poppy-mcdermott-558d8

On Tuesday 8th September, BDFA representatives attended the Scottish Parliament for the Childrens Hospices across Scot...
10/09/2026

On Tuesday 8th September, BDFA representatives attended the Scottish Parliament for the Childrens Hospices across Scotland’s (CHAS) parliamentary reception, ‘Rewriting the future of how Scotland cares for dying children’, sponsored by Miles Briggs MSP.

The event provided an opportunity to explore how community care, partnership working and innovation can improve outcomes for children and young people with life shortening conditions, and provide families with greater choice.

BDFA Head of Support and advocacy and Donna Mitchell, bereaved parent of Reece attended through their participation in ‘Childhood Dementia Scotland’, along with colleagues from the partnership.
We met with the host Miles Briggs MSP and Minister for Community Care, Alison Thewliss MSP along with senior partners at CHaS, other charity groups and policy influencers and have formed new alliances.

We were able to reflect on and share Donna’s experience through Reece’ s Batten Journey and present this on the Childhood Dementia Scotland Stand.
We are so proud to have been able to represent BDFA at this event, it is only through dialogue and creating wider partnerships that we can influence policy makers, learn and gain strength from each other, and inform partners of the challenges we face and the knowledge and experience we hold in the Batten disease journey.

Please click on the link to see Donna’s thought provoking article here and read more about childhood dementia in Batten Disease here- https://bdfa-uk.org.uk/childhood-dementia-and-batten-disease

Next up is Vic, who is taking on the AJ Bell Great North Run for the BDFA this Sunday! 🏃🏼‍♀️🏅She is running in memory of...
10/09/2026

Next up is Vic, who is taking on the AJ Bell Great North Run for the BDFA this Sunday! 🏃🏼‍♀️🏅

She is running in memory of Amy, who unfortunately passed away earlier this year.

Vic has done an amazing job with her fundraising, and we can't wait to see her smash the half-marathon this weekend! 🧡 Good luck Vic!

You can support Vic via her fundraising page here: https://ajbellgreatnorthrun2026.enthuse.com/pf/vic-swanston

🔸Genetic Alliance ‘Future for Rare’ Summit🔸We are delighted to attend the Genetic Alliance Future for Rare summit today ...
09/09/2026

🔸Genetic Alliance ‘Future for Rare’ Summit🔸

We are delighted to attend the Genetic Alliance Future for Rare summit today in central London.

This important meeting has brought together people affected by rare conditions, support organisations, clinicians, researchers and policymakers who have participated in the future for rare campaign working groups to help shape what a successor policy to the UK Rare Disease Framework should look like.

It has been a great day of discussion and building consensus around shared principles across 11 topics that affect people with rare diseases and agreeing priorities that will be recommended to the governments of the four nations of the UK. BDFA have been involved in two of the working groups over the last few months ensuring the needs of the Batten disease community are represented.

We look forward to sharing more about the results of the campaign with our community.

09/09/2026

This weekend is another big one for the BDFA! 🤩 We have over a dozen fantastic fundraisers taking on a challenge across two different events - the Thames Path Ultra Challenge® and the iconic AJ Bell Great North Run! 🏅

We're going to introduce our fundraisers over the next few days, and up first is Team Rosie!

Made up of a group of thirteen brave souls (including Rosie's mum and dad!) who are aiming to walk 100km in 24 hours to raise vital funds for the BDFA, and in honour of Rosie, who lives with CLN2 Batten disease.

They have raised a truly INCREDIBLE amount of money so far - over £12,500 and counting! The level of dedication and support shown by Team Rosie and everyone who has donated to their fundraiser has continually blown us away. It is both inspiring and humbling to witness such a special group of people from our wonderful community come together like this, and to feel the huge amount of love they have for young Rosie and her family🧡

Please join us in wishing the team the best of luck for their challenge this weekend, and if you are able, you can support their fundraiser here: https://www.justgiving.com/team/team-rosie

Address

BDFA, PO Box 379
London
BD189GE

Telephone

+447354486586

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