For the first time in the UK, in collaboration with the NIHR, GOSH and the BRC we brought together families affected by BPAN to hear the latest updates on all things research and charity. Around 140 people, mainly from across the UK, but also with families joining us from Greece, Spain, Italy, USA and Latvia, others dialling in from Australia, Ukraine and Mexico. The feedback from families has been overwhelmingly positive. Feeling supported, connected and understood, and for the first time, truly part of something that is making a difference. Many are already asking how they can get involved and that says everything! One of the most important parts of the day was bringing the research to families. Hearing directly from the teams at Great Ormond Street Hospital and University College London, learning about the latest progress in gene therapy and cardiac glycosides, and having the chance to ask the questions that really matter. The researchers themselves left feeling more motivated than ever. Meeting so many incredible children and families had a real impact, reminding them exactly why this work matters and strengthening their drive to push the science forward even harder. When we met these incredible researchers, for the first time we felt real hope. That’s what we wanted to bring to as many families as we could, the knowledge that this is a very real opportunity to get behind and support. The commitment, the expertise, the belief… it’s all there. The reality is, this comes down to funding that can unlock life-changing treatments and real improvements in quality of life for people living with BPAN. This day was nearly a year in the making, and it simply wouldn’t have happened without the incredible support behind the scenes, from Great Ormond Street Hospital and Charity, UCL, NIHR Biomedical Research Centre and The National Lottery Community Fund, to the researchers, volunteers, our BPAN Unites charities, BPAN Heroes and BPAN Matters and every single family who joined us, in person or online. An extra special thank you to our family presenters Lindsey Knight & Laura for being so brave and vulnerable in sharing their lived experiences with their children Thank you for showing what’s possible when we come together like this. Because alongside the science, something else has now been built. A community that supports each other. A community that understands. A community that knows we are not alone. Stronger together, always. 🩷💙 To see all the images please head to the gallery page on our website!

We thrilled to announce first ever UK BPAN Family Day is open for registration! We invite you to join us in London for a dedicated in-person event bringing families and researchers together to exchange knowledge, build connections, and help shape the future of BPAN research. Organised in partnership with Great Ormond Street Hospital, the NIHR Biomedical Research Centre (BRC), and UCL. This day is about listening to families, strengthening understanding, and ensuring patient voices help inform the direction of research now and in the future! See full details & itinerary for the day here: https://www.gosh.nhs.uk/.../support.../brc-events/bpan-day/ We’re incredibly proud to bring this long overdue day to you alongside the World-class and super committed clinical & research teams Please DM or Email us if you have any questions engage@actionforbpan.co.uk

Today, 28th January 2026 we were invited the BRC/NIHR GOSH Gene Therapy in Paediatrics event to represent our small but determined community. The day focused on bringing together GPs, paediatricians, clinicians and patient advocacy groups to provide an understanding of gene therapy technologies, long term effects, latest advancements & the future of gene therapy.  For us, the most impactful part of the day was hearing from the patients and their families who’ve received gene therapy and the incredible benefits that have been truly life-changing 🩷💙 We’re grateful to be part of these conversations and to ensure BPAN families are seen, heard and represented. We even bumped into one of our own BPAN Gene Therapy Professors Simon Waddington!

Read Isabella's story, the journey of a co-founder’s daughter at Action for BPAN, as she faces the challenges of living with BPAN. A heartfelt introduction to Isabella and the honest impact BPAN has on her and her family. Isabella's Story Isabella's journey with BPAN has been a challenging one, but she has persevered through it all with a smile. Her story is one of strength, resilience, and hope. Nicole Isabella's Mum x Isabella's Story Isabella was born naturally, full-term on the 4th of February 2018 after an uneventful pregnancy. When we met the beautiful, innocent little girl we had been blessed with, we made the promise to her that all parents make: to love and protect her and do everything in our power to ensure she has the most amazing life. As a baby, we had no clue of what was to come. Isabella was beautiful, happy, alert, and would coo, blow raspberries, and play like the other babies. As she grew, she continued to make good progress but was starting to fall a little behind with her milestones. Me being me, I did not want to hear anything negative about her and did not want to compare her to other children, but over time, it became harder to ignore. At 1 year old, Isabella was starting to walk but still had no words. At 15 months, Isabella had her first major seizure, and it was terrifying. The seizure lasted just over two hours. She was so tiny in that hospital bed with tens of doctors swarming over her, trying to save her life. Sadly, this was the first of many times I felt like we might lose her, but thankfully, eventually, it stopped, and she started to breathe for herself again. This was the beginning of what felt like an eternity of tests, and I felt so terrible that she was having to go through so much without understanding why this was happening to her. This included MRIs, a lumbar puncture, EEGs, and countless blood draws. It was a rollercoaster, and we had so many unanswered questions about what was happening to Isabella. We were ultimately sent to see a geneticist for genome testing. She took measurements of all her beautiful little features to check for any "abnormalities" and then took some blood samples. Months later, on the 19th of January 2021, we finally got the results back. By this time, lockdown was back in effect, so we were told over the phone the words no parents ever imagine they would hear about their child at any age, let alone at two years old: "I'm sorry, I'm afraid it's not good news." BPAN—full name beta-propeller protein-associated neurodegeneration. Our hearts broke. Everything we had hoped for Isabella and her future was being taken away from her. As the doctor explained BPAN and the reality of Isabella's future, I just felt sick and devastated. She was telling me how hard our little girl's life would become and how it was going to end when it had barely started. Isabella had been making amazing progress—she could run, dance, she had started using sign language. She was happy, cheeky, and deserved a future of endless opportunities. All I could think about was the life and opportunities that she would not have as her health deteriorated with what seemed to me like every scary condition we fear getting later in life, but Isabella was going to be stripped away by these terrible things as a child. We were told that as she grows, iron would build up in her brain, and BPAN would cause her to lose everything she had worked so incredibly hard to gain. She would develop Alzheimer's and Parkinson's. She would lose the ability to walk, eat, communicate, and her vision. She would also develop dystonia, which can cause muscles to spasm so badly that bones can break, along with many other things that I didn't even know existed at the time. There is currently no treatment or cure for BPAN, and they said that it would just be palliative care when needed. Isabella had an MRI the day after her 6th birthday, and we could already see iron deposits on the part of her brain that controls movement. Regression can happen at any time, but it usually starts around adolescence. While her peers gain their independence and head out into the world, Isabella will be losing hers. Isabella is 6 now and goes to a school that she loves and receives fantastic support from them. Both John and I can see her flourishing and how much fun she has there. She absolutely loves animals, music, and food—especially chocolate! She runs, climbs, loves going through my makeup, cuddles and kisses, YouTube, and all the other things a typical little girl of 6 enjoys. It’s very hard to enjoy all of these wonderful moments with her while knowing what the future holds unless we do something. I have watched Isabella go through the most horrific and terrifying medical emergencies, and I'm grateful that she is such a fighter. When we received Isabella's diagnosis, the clock started ticking down for her, so we started looking for research into treatments or cures for BPAN. Scientists had started work, and research was underway, but due to the fact that BPAN is a rare disease, unfortunately, it does not get the attention or funding that a disease as devastating as this deserves and fundamentally needs to progress. I was shocked to find there was no UK-based charity fundraising to support the research we were so desperate for. Every time Isabella has a major seizure, we rush to the hospital—sometimes by car, sometimes by ambulance, and once, in a truly terrifying moment, by helicopter to London. Each time, I find myself repeatedly explaining this devastating condition to doctors and paramedics while still trying to fully understand it myself. There was no information from the NHS website available on how the condition progressed, and with Covid in full effect, no one to answer my questions. So, I turned to other families on a worldwide Facebook group. This led me to Kelly and her lovely daughter Emily. We have the same goal and reason for creating the first UK-based charity for BPAN. With everything we have learned, we wanted to be able to help give hope to everyone with BPAN—not just in the UK, but worldwide. The UK is one of the most advanced countries in the world in science and medicine. We want to be able to contribute and support the vital work for a cure or treatment that's being done at Great Ormond Street and across the globe. I have updated Isabella's story from the first version that I wrote when she was two years old. Here, I wrote that I had written this in tears, and while that is true—I cried every moment I was alone when she was first diagnosed—now, I feel stronger and more determined because I understand that there is hope for her. I will do everything I can for Bells and any child unlucky enough to be diagnosed with this terrible condition to have a life without pain. I don't want her to forget who she is or who I am. That is our promise to Isabella: we will fight for her and do everything we can to give her the best chance at life. I can’t help but dream of a day years from now when I can sit and tell her that as a child, she was very sick, but through her strength and the kindness and generosity of friends, family, and people we may never meet, we were able to overcome BPAN together. Please help us raise the funds and awareness needed to bring a cure in time for Isabella and so many others with BPAN. If you can help in some way such as a donation or a sponsored fundraiser it will help give these underrepresented children a chance at a future full of love, endless possibilities, and smiles. Thank you for taking the time to read about our lovely little Isabella. Any donation you could offer would mean more to us than you could ever imagine and bring us closer to a cure! The road map for a cure is there and we just need to push it to the finish line. Nicole, John and Isabella. xxx Donate

Get in touch with Action for BPAN through our contact page or connect with us on social media. Stay updated, ask questions, or find out how you can support our mission. Contact Us & Socials Get in touch! At Action for BPAN, we are always ready to help. If you have any questions or concerns, please feel free to reach out to us anytime. First name(Required) Last name Email(Required) Subject(Required) Donation Fundraising Spreading Awareness Message for Kelly Message for Nicole Partnership Support Other Message(Required) Submit SPREAD AWARENESS You can help us spread awareness for BPAN by liking, following, and sharing our social media pages. You could also help us by sharing your BPAN journeys with us. We'd love to hear them! We feel that by sharing stories and personal experiences it enables us to pass on the information to others who may be looking for answers. Had an amazing fundraiser? Please take lots of pictures so we can share and celebrate all of your accomplishments. SOCIALS @ActionforBPANuk Facebook Please like and follow us on Facebook. Keep up to date with Action for BPAN news, updates and announcements! Read our posts! @action.for.bpan TikTok Please like and follow us on Facebook. Keep up to date with Action for BPAN news, updates and announcements! Watch our shorts! @ACTION_FOR_BPAN Instagram Please like and follow us on instgram. Keep up to date with Action for BPAN news, updates and announcements! View our pictures! @ YouTube Action for BPAN coming to YouTube soon! Watch our videos!

Explore helpful information from other BPAN families, including tips and ideas on how to access support and navigate the challenges of raising a child with BPAN. HELPFUL INFORMATION Here are some helpful tips, information and products ideas we have gathered from BPAN families. We hope you find something useful and if you have a tip you would like to share to with other families please let us know! Medical Care & Respite I’m having concerns or disagreements with my child’s medical care. What can I do? It is important that you feel heard and that your thoughts are taken into consideration as BPAN is so rare you will become an expert, not only about your child but the condition in general. There are many people out there to support you if have concerns. Patient Advice and Liaison Service: If you have a concern or complaint your hospital, the PALS department will be able to assist you. BPAN specialists: If you need information specific to BPAN or a letter of support, speak to your BPAN specialist that understands the condition. Care coordinator: Available through your local authority care coordinators can help you navigate the healthcare system to ensure you receive the right support and care at the right time. They work closely with patients, GPs and other health care professionals to identify needs, develop care plans, and connect patients with services that advocate for patients. Personal experience – We value our Health Care Coordinator so much, she is an important asset that has helped with so many issues from chasing things up to letters of support, she has always been a big help! How can I make sure myself and carers are trained to provide day to day and emergency care? Feeling prepared when everything seems so unknown can be a big help so if you want to feel more prepared you can speak to your BPAN Specialists, local GP’s, Epilepsy Nurses or Community Nurses to see what training is available to you locally. Personal experience - As a family we have attended CPR Training at the hospital. We have also received training with the Epilepsy Nurses for administering emergency meds (oral and rectal) and the Community Nurses for training to use the suction machine and administering oxygen. What are specialist Dentists and should I bother? Specialist Dentists are for children and people with additional needs. They allow for longer appointments so they can take their time and can advise you on lots of helpful techniques if you’re having any issues such as tasteless non-foaming toothpaste, for those not a fan of regular toothpaste, or the best time to brush if you’re Bpanner can sometimes only manage once a day! Is there a best practice guide for BPAN? Yes, this guide was created in 2021 by Drs specialising in BPAN from around the world you should give a copy to your child's Drs. BPAN Management Guide How can I get help with respite? Making time for self-care is important. Respite can also provide your loved one with access to new experiences and help grow their own social life and relationships. Speak to your local authority to see what help is available to you. Direct Payments Personal Assistant (PA) - Many people choose to have a PA that is funded by your the local authority. There are many respite centres in the UK ; either local GOV or charity's that offer day-care, overnight care and short breaks. These facilities often have tons of fun activities such as fun days, holiday theme parties and special events that are accessible with fun for all abilities. Personal experience - One of our local respite centres is a charity called Demelza. When we were first offered a referral by the Epilepsy Nurses I was told it was a hospice so rejected the referral. However, a year later someone else told me about all of the lovely things they offer and it wasn’t just a hospice. It was more for respite, extra therapy and family time so I took the referral and I’m so glad that I did! We now enjoy hydro therapy, music therapy, home respite and all of the fun days they organise together as a family and I know they offer overnight respite should I need them. Home & Equipment Can I get help funding equipment not available on the NHS? Yes, there are numerous charities in the UK that can help partially or fully fund specialist equipment not provided by the NHS. This includes items like wheelchair add-ons such as power assists, Epilepsy alarms , specialist play equipment like bikes and trikes, specialist car seats , and travel beds . Personal experience - We received charity funding for a Carrot car seat, which provides excellent support the Carrot allows for a 5-point harness, spins for easy access, reclines, and even has a Velcro table for play during car rides! The application process was straightforward; we filled out the form and obtained a support letter from a physio, and within about six weeks, we had the seat. Can I get specialist home equipment from the NHS? Yes, your local Health Occupational therapist (OT) and Physio will be able to asses you for specialist home equipment such as: - Supported seating - Walkers Social care Occupational therapist provide different types of equipment such as comfy seating for Home Wedges that you can use to support your child sitting or sleeping. - Specialist sleep safe bed - Hoists - Bath chairs Can I get help with adapting my house to make it more suitable? Yes, your local authority will be able to help you with this. Social Services Disable services will be able to assess your family’s needs and apply for a Disabled Facilities Grant (DFG) to ensure you have suitable living conditions. Personal experience - This has been great for us and our house is now ready for whatever the future may hold! Its worth speaking to them even if your still managing, these thing take time so check your local authorities waiting times and try not to leave it until things become to difficult! Can I get help with incontinence products? Yes, you can apply for this service by completing a self referral to your local incontinence team. Local Services & Opportunities REMAP "Making things possible for the disabled" They do this by making and adapting equipment to meet the unique needs of individuals at no cost to them. The equipment, produced by a team of dedicated volunteers, can help with day-to-day tasks such as mobility, personal care or eating. Or it can enable the client to pursue a hobby or ambition, such as participating in a sport or art activity. Information Advice and Support Services (IASS) Your local Authority will have their own IASS That is there to help young people age 0-25 with lots of things such as EHCP's, Additional support at school, Help filling out forms or preparing for meetings and offering advice about the different services in your area. Local Offer Every local Authority should have a local or equivalent where you can find a directory of inclusive support groups, events, and activity's. Emergency Carer Card A card which has a registration number and a telephone number that can be called in an emergency situation. The carer carries the card at all times so that it can be used as an instant source of identification in case of accident or sudden illness. Riding for the Disabled There are many disabled riding centres around the UK if your looking for a fun hobby that's also great exercise! many centres do have waiting lists so its worth getting your name on the list. Free Swimming Your local authority run Leisure Centre may offer a disabled swim card (this allows for a free carer also) speak to your local leisure centre for how to apply. Carers Concessions Most attractions will offer a free carer admission with a disabled ticket. Depending on their rules you may need to show proof of DLA, carers allowance letter or Blue Badge (It's best to have a picture of these on your phone so you don't have to carry them around) The information provided here is based on lived experience of the individuals involved. It is important to note that experiences may vary depending on location and local authority. Useful Home Accessories & Products Dribble Bibs to Snoods! It was a struggle to find nice big girl/adult bibs, the sizes were either massive or tiny and the patterns were sometimes a bit too wild to match with outfits! I was so happy when we found snoods they look like more of a style accessory than a dribble bib. They dry quickly and you can turn them around so you don't have to change them every 5 minutes! Wellie Boots Welly boots made of foam! (Like a croc) they usually have EVA as the material in the description. These are super lightweight and they come with a sock in them so they're not slipping off or making her fall over. You can find them on Amazon. Soft Washable Bed Pads These are great for if there are any accidents or leaks in the night! they are a soft material so no plastic crinkle noises and you can just throw them in the wash and reuse them. You can get them vat-free on incontinence sites and they are much more cost effective than the throwaways! Swim Floaties We brought a lie-on floaty ring that clips up behind the back as our daughter was getting too big to put her legs through the holes of a baby one and she loved it! It was great because it was much easier to put her in and she would be in the correct swimming position so we could get her working her legs from behind for exercise. A company called LAYCOL sells them on Amazon but there are similar ones if you want to shop around. We have used it for three years and it's never needed replacing. Swim Nappy's I wish I hadn't wasted my money for so long! The reusable swim shorts from Splash About are great and go all the way to adult sizes. I only found them when I really couldn’t find any swim nappies big enough to fit anymore, but I wish I had known about them earlier! She now wears her swim shorts/nappy with a zip-up swimming top, as she hates getting in and out of a costume anyway! The Honey Bear Straw Training Bottle These bottles come with a stopper at the end of the straw and because they are squeezable so you can squeeze the juice up the straw until they learn to drink through it for themselves. Personal Experience - Our daughter's therapist recommended we try this and it was the most success we've ever had with a straw! If you want to give them a try you can find them on Amazon. Toys and Gifts Every Christmas and birthday, family & friends want to know what to get for our child and at times, we're not even sure what we're going to buy! So, we thought it would be nice to share some of our best finds for our little ones. We hope that you will also share your most loved gifts so we can share them with others! I know I would love some more gift ideas :) Peanut Ball - What a great gift this was, they are practically indestructible, great for exercise, and tonnes of fun! They are not very expensive and you can order them on Amazon. Ceiling Swing Chair - These are amazing! so much fun when you want to play but also for calming down and relaxing, you do need to have a load-bearing beam to attach them to but they're surprisingly not very expensive, Amazon sells them for about £40 and they would be a lovely main present. Malissa and Dough / Jaques London - They are great for the kind of open-ended play that helps build skills. Their products are mostly wood so very durable but also versatile for making up your own games so there's no right or wrong they can just do what they feel with them, I'm sure if you haven't heard of them yet you will find something they will enjoy playing with! Tomy Hide And Seek Squeek Eggs - They have a couple of different varieties like eggs in a box or Eggs on a bus! The opening and taking everything apart has always been very interesting! Ball (Smaller than a standard football not a tiny bouncy ball) - Our daughter loves playing with a ball! she can now catch a ball when we say 1, 2, 3 Catch! and can throw it back to us. She loves it and we are so proud of her progress! Galts Frog In a Box And Vtech pop-up honey bear - They are quite similar we first had with the frog in the box because it's easier to open then we've got the honey bear (This one has buttons to make the bear pop up) and these types of toys have been a firm favourite for years! Small Basketball Hoop - We have stuck it up with Velcro dot stickers I got from Amazon, We have one in our front room and one in the garden. It's a great game to play together we take the ball further and further away so she has to go further to put it in the hoop then we do a big celebration when she scores!