Search Results

Dr. Apostolos Papandreou joins the Action for BPAN team as a Medical and Research Advisor and founding member of our growing Medical Advisory Board Dr. Apostolos Papandreou, Consultant in Metabolic Medicine and Rare Neurological Disorders at Great Ormond Street Hospital and Honorary Associate Professor at UCL, has joined the Action for BPAN Medical Advisory Board. Dr. Papandreou is internationally recognised for his work in rare neurological conditions, with a particular focus on BPAN (Beta-Propeller Protein-Associated Neurodegeneration) and related neurodegeneration with brain iron accumulation (NBIA) disorders. He has published extensively on BPAN, contributed to international guidelines, and works closely with families and researchers worldwide to improve care and accelerate progress towards therapies. His research has also explored the use of cardiac glycosides as a potential treatment for BPAN, opening up exciting new possibilities for the future.    His clinical expertise, research knowledge, and dedication to families living with BPAN make him an invaluable addition to our medical advisory board. We are honoured to have his input and support as we continue driving forward research, advocacy, and support for the BPAN community.  Exciting times lie ahead for Action for BPAN and our community, as progress continues, connections strengthen, and awareness of BPAN spreads 💙🩷

What an unforgettable Action for BPAN Golf Day 2025 at Burhill Golf Club ! A massive thank you to our sponsors Nozomi Networks , Hedin Automotive London , Inner Wings Foundation , AliDeck , @Vulcanconstruction, @eliteav, @Korbyt, VJ Technology , @Bradbyswealthmanagement, Zenith Black , @Rynosystems, James Hardie , NGL Golf . Check out the full gallery here 🏌️‍♀️⛳ #ActionForBPAN   #OverwhelmingSupport   #GolfDay2025 #CorporateSocialResponsibility #GeneTherapy   #Partnerships

✨ What a day to remember! ✨ On Saturday 21st of June, 43 incredible people came together to climb Mount Snowdon  in support of Action for BPAN . It was no small feat, the mountain was relentless at times, but what shone even brighter than the challenge was the unity, strength, and love shared among the families and supporters who made the journey. From the moment we gathered at the base, there was a sense of something bigger than all of us. The hugs, the group photos, the children’s laughter, it was emotional, hopeful, and filled with purpose. Each step we took was for the children we love, for their futures, and in support of the urgent research we are so desperate for. Among the group were also some amazing young climbers aged 15, 13, and 12 years old who showed unbelievable resilience and determination. They inspired us all. Together, this was not just a climbing a mountain, but a symbol of what this community is capable of. Every parent, friend, grandparent, and supporter who took on this challenge gave so much, arranging childcare, travelling long distances, taking time off work, and stepping far outside their comfort zones, all to stand in solidarity with families affected by BPAN. Thanks to this amazing effort, and the generosity of so many who donated, shared, and cheered us on from afar, we’ve raised an incredible £31,821 so far , with an additional £5,559 in Gift Aid . That’s over £37,000 for research and action! This achievement shows what we can do when we come together. To everyone who climbed, fundraised, or supported from afar Thank you! From the bottom of our hearts. 💙🩷 And to those who are still planning to complete their climb at a later date good luck! We’ll be cheering you on every step of the way! This climb may be behind us now, but the mountain ahead, funding effective treatments and a cure for BPAN is one we continue to face. Knowing we’re not climbing it alone makes all the difference. 👉 https://www.justgiving.com/campaign/stepupforbpan?utm_medium=CA&utm_source=CL #StepUpForBPAN #ClimbForACure #ForeverGrateful #ActionForBPAN #BPANFamily

Meet Our Community Each story you read here is a glimpse into a life filled with resilience, love, and incredible strength. These children face daily struggles that most of us cannot imagine, yet they continue to shine bright. We are deeply grateful to the families who have chosen to share their experiences, helping us to raise awareness of BPAN and the urgent need for a cure and treatments. Sharing our children’s journeys is not easy, it means opening our hearts and inviting the world into our children's realities. But we do it because awareness brings action, and action fuels the fight for a cure Please read with kindness, hold their stories in your heart, and, if you can, support our mission to fund the vital research that could change their futures. Every donation, no matter how small, brings us closer to the breakthrough these children have been waiting so patiently for Meet Olivia aka Liv Liv is 11 years old Liv likes Water S and School Books Animals Sensory & Spinning Objects Liv Dislikes Loud Places Parks New Places People Shouting Changes of Routine Face Coverings (helmets, face masks, costumes, face paints ) A Bit About Liv 11-year-old Liv has been through a lot in her short life. We spent many years feeling puzzled by her illnesses and her lack of development. We saw a lot of different specialists, and no one could tell us why Liv was not hitting her milestones. By the age of 2, she was diagnosed with epilepsy after a few very scary trips to the hospital. Over the years, we have managed to get this under control after lots of back-and-forth hospital visits! At the age of 11, she is still not hitting milestones. She’s still not physically able to climb stairs, lift herself up off the floor, toilet, shower (etc.), or generally take part in many physical activities, as well as limited cognitive skills, talking, general understanding, fine motor skills, and challenges retaining information. These are the challenges that we face every day. It’s hard knowing that these challenging days will only get harder as time goes on, and she will lose even more ability than what she already has. Knowing what the future holds for BPAN children is heartbreaking, and as a family, we don’t look to the future, we take it day by day and celebrate the good days. Liv was only diagnosed 15 months ago with BPAN after a very gruelling time. So, for us as a family, this is still very raw, and there’s still a lot to digest and a lot to learn. However, she is the happiest, most sociable little girl, and everyone falls in love with her when they meet her. No matter what the future holds or what challenges we face with regression, I will always hold on to the fact that she is loved by so many! Written by Louise Liv's Mummy Every child with BPAN deserves a future filled with possibilities. Right now, promising research is underway, but it needs funding to continue progressing. Your donation, no matter the amount, brings us closer to a breakthrough that could change lives Donate A Bit About Me Meet Bertie Bertie is 4 years old Bertie Likes Cocomelon Music Mirrors Ball Pit Balls Cuddles Being Sang to Bertie Dislikes Medicine time which unfortunately is twice a day New people coming into his personal space A Bit About Bertie Bertie is known as the “healing baby” for brightening bad days with his gorgeous smile and joyful stims. He’s incredibly loving, gives the best cuddles and kisses, and delights in being held and sung to. Bertie is four years old and one of five siblings. He is a joyful boy despite significant challenges. Diagnosed with global developmental delay at nine months, he missed milestones like smiling, sitting, and rolling, and his mobility remains limited to this day. With the mental development of an eight-month-old and being non-verbal, Bertie cannot communicate his daily needs. He experiences 6–10 absent seizures daily, prompting extensive investigations. Bertie has been supported by numerous specialists, including physiotherapy, portage, neurology, and epilepsy care. We live in Canterbury, and there are no support groups or professional teams that can support him here—we have to travel to Great Ormond Street Hospital for help. Through my research, I discovered another mum in Australia who connected me to the Facebook group BPAN for Families. This has been a great source of support. Bertie has a mutated WDR45 gene, which prevents his body from clearing iron and waste from his brain and nervous system. This causes learning disabilities, epilepsy, and potentially dystonia in adolescence, which can progress to dementia, dystonia, and Parkinson’s, ultimately shortening his life. “He will more than likely never speak, walk, or be able to live on his own if this cure isn’t found before he hits puberty.” Day-to-day life can be a real challenge, impacting not just me and Bertie’s dad but also my other children. At first, we were unaware that Bertie had BPAN, and he had to undergo many tests. It wasn’t until February 2025 that we received an official diagnosis. I spent countless days and nights researching to find out what was happening to my son, desperate to find a solution to help him. I am a fixer, and the idea of my son suffering breaks my heart every day. It’s difficult that he is non-verbal and cannot express his needs. Bertie is unable to move around, so we have to lift him downstairs, into the car, into the wheelchair, and into the bathtub. This takes a physical toll on us, and some days, we are in so much pain that we cannot do it, limiting our ability to leave the house. When we do go out, I am limited in how much I can engage with my other children because Bertie needs me to be by his side, caring for him. It’s a real challenge as a large family. I just want to make all my children happy. “I don’t want to imagine my life without him. It’s the same for all of us—my kids will be lost without him.” Despite the sadness we experience and the fears of losing Bertie, we are truly blessed to have him as part of our family. Bertie has brought so much love to us all. He has taught us to be kinder, more patient, and more humble. We have all learned to love in new ways. He brings so much joy and character. Bertie is making progress—he can now roll toward whoever he wants and put his arms up to be held and kissed. This is a blessing in itself. We have so much love for him. Our main hope as a family is that this charity raises enough money to fund a cure. I am under no illusion that this treatment will be a miracle—he will still have severe learning disabilities—but we hope his cells will not die, and he will not develop dementia. I just hope this cure is found before he reaches stage two. We have ten years—there just needs to be a cure! I want to help my son, and I hope that even if a cure isn’t found, he stays his happy self, doesn’t suffer in pain, and knows how deeply loved he is. We must work together to find a cure for Bertie and children like him. BPAN is such a rare condition, affecting fewer than 500 people worldwide. It causes progressive damage to the nervous system, leading to a range of distressing symptoms that gradually worsen over time. Professor Manju Kurian of UCL Great Ormond Street Institute of Child Health is developing a gene therapy for children with BPAN. She hopes this will ultimately lead to a safe and effective treatment that can help slow disease progression-transforming the lives of children born with this debilitating condition. We need your support. We are asking for your help in raising funds for crucial BPAN research. Every donation brings us one step closer to finding a cure. Please consider donating today to help children like Bertie have a chance at surviving this heartbreaking condition. Thank you for your support. Written by Emilee Bertie's Mummy Every child with BPAN deserves a future filled with possibilities. Right now, promising research is underway, but it needs funding to continue. Your donation, no matter the amount, brings us closer to a breakthrough that could change lives. Donate Meet Scarlett Scarlett is 4 years old Scarlett Likes Singing Dancing Dressing up Drawing Playdoh Playing with dolls Scarlett Dislikes Loud environments Changes of routine A Bit About Scarlett Scarlett is four years old – our beautiful, happy, funny and wonderfully cheeky little girl who lights up our world. Just before her first birthday, Scarlett experienced her first prolonged seizure. At the time, we were reassured it was “just” febrile, and life carried on much as normal. But in October 2022, she suffered her third and most serious seizure, lasting an hour. That was the turning point. Scarlett was referred for genetic testing and an MRI, and in January 2023 we received the devastating news that changed our lives forever – Scarlett has a rare neurological condition called BPAN. Since then, our priorities have shifted. We try not to dwell on what the future may hold, but instead pour our energy into making Scarlett happy every single day. She has recently started school, and we treasure every moment – from her laughter in the playground to family days out creating memories we’ll cherish forever. Scarlett’s strength and joy inspire us daily, and as a family we are determined to make her life as rich and full as possible. Connecting with other parents whose children share this condition has given us renewed hope and purpose. Together, we’re working to raise awareness and fund vital research so that one day there may be a cure for Scarlett and others like her. Thank you so much for your support. Written by Louise Scarlett's Mummy Every child with BPAN deserves a future filled with possibilities. Right now, promising research is underway, but it needs funding to continue progressing. Your donation, no matter the amount, brings us closer to a breakthrough that could change lives Donate Meet Musa Musa's family have chosen to share this beautiful art work created by their son Musa is 8 years old Musa Likes Sensory lights and colourful Light projectors Listening to stories and calming sounds Gentle massage to his hands feet and head Having snuggles with his parents and siblings Going to school and seeing his friends Soft gentle voices close to his ear Musa Dislikes Loud or sudden noises Being in a wet nappy Spending to long in his wheelchair Long Hospital admissions or stays away from home A Bit About Musa Our son Musa is eight years old. He is the youngest in our family, the cherished twin of his brother Harun, and the little brother of two older siblings who love and adore him. Musa is the soul of our family – our light. His patience and resilience inspire us every single day, teaching us strength, love, and perseverance. Musa lives with a rare condition called BPAN (Beta-propeller Protein-Associated Neurodegeneration). BPAN is caused by a change in the WDR45 gene and leads to progressive damage in the brain and nervous system. It affects Musa in many ways. He is non-verbal, unable to move independently at all, and suffers from seizures and now dystonia. He also has progressive scoliosis, which adds to his discomfort and medical needs. Musa relies on a PEG-J feeding tube, oxygen overnight, and requires regular deep suctioning to keep his airway clear. He also needs regular medications throughout the day to help manage his symptoms. Hospital visits, medical care, and constant monitoring are part of our daily life. Despite these challenges, Musa brings joy and warmth to everyone around him. He loves lights and musical sounds, which never fail to make him smile. Being with his siblings brings him comfort, and his presence fills our home with love. But BPAN is a cruel condition. It is neurodegenerative, meaning it worsens over time. As children with BPAN grow, they gradually lose skills, face increasing disability, and require ever more care. For families, it is heartbreaking to watch. This is why gene therapy means so much to us. Unlike treatments that only manage symptoms, gene therapy could target the root cause of BPAN. It has the potential to slow or even stop progression, reduce seizures, and help better manage Musa’s movement disorders. For Musa, gene therapy could mean stability instead of decline, fewer seizures, and more opportunities to live his life with dignity and joy. For us as a family, it means hope – the chance for Musa’s light to shine with us for longer. Thank you so much for your support. Written by Shewley Musa's Mummy Every child with BPAN deserves a future filled with possibilities. Right now, promising research is underway, but it needs funding to continue progressing. Your donation, no matter the amount, brings us closer to a breakthrough that could change lives Donate

Action for BPAN is the first UK charity focused on funding research for a cure or treatment for Beta-propeller Protein-associated Neurodegeneration (BPAN). We are dedicated to making a lasting impact in the lives of families affected by this devastating condition by providing support based on our own lived experience.​ Join us in our mission to fund vital research and raise awareness about BPAN. 1/4 Action for BPAN is the first UK charity focused on funding research for a cure or treatment for Beta-propeller Protein-associated Neurodegeneration (BPAN). We are dedicated to making a lasting impact in the lives of families affected by this devastating condition by providing support based on our own lived experience. Join us in our mission to fund vital research and raise awareness about BPAN. Support Our Cause About Us Action for BPAN was founded in 2024 by two mothers, Kelly Sayers and Nicole Harper, whose daughters have both been diagnosed with BPAN. Our mission is to bring hope to families by supporting them, raising awareness and generating funds for BPAN research. Thanks to the support of our growing community and volunteers, the UK is joining the global effort to find a treatment or cure. Driven by our love and dedication to our incredible daughters, and with your support, we can make a meaningful difference in the lives of those affected by BPAN. Meet The Team Meet Isabella Isabella is our joyful, vibrant 6-year-old daughter, who was diagnosed with BPAN at the age of 3. Her future is uncertain - she may become part of a wonderful story where research leads to a cure or treatment in time, or a heart breaking story of a little girl that has to suffer BPAN's degenerative symptoms—like Alzheimer's, Parkinson's, and ultimately, the loss of her movement and communication skills. Our mission is to ensure that Isabella and others like her can live a happy, healthy life, and to prevent future generations from having to endure a life with BPAN. Read Isabella's Story Meet Emily Emily is the youngest of our two incredible children, born on 4th April 2016, she was just 4 years old when we received her BPAN diagnosis. Emily is a very special little girl who leaves a lasting impression on everyone she meets, she is full of love, laughter and happiness. Emily gives the best hugs and has a way, even with her limited communication, of charming you into getting exactly what she wants! Whether that's another play fight with her Daddy or a 3rd and 4th story out of Mummy at bedtime! Read Emily's Story What is BPAN Beta-propeller protein-associated neurodegeneration (BPAN ) is a rare and devastating genetic disorder caused by mutations in the WDR45 gene. This condition leads to the accumulation of iron in the brain , resulting in progressive neurodegeneration . The symptoms experienced by affected children resemble those of Alzheimer's disease , Parkinson's disease , Seizures and dystonia , ultimately leading to a loss of motor and communication function's . Time of degeneration varies but typically begins during adolescence, a time when most children are moving forward into the world. Unfortunately, for children with BPAN, this is when they begin to lose the skills they have worked so hard to develop. Learn More BPAN IN NUMBERS 500 The estimated number of cases worldwide known to have been diagnosed with BPAN, most are females. Although the actual prevalence could be higher due to underdiagnosis or misdiagnosis. 5-10% Of the 500 cases worldwide is the estimated percentage of boys diagnosed with BPAN. 10-19 The typical age range of degeneration although there are many known cases earlier and later. 2012 The WDR45 gene was discovered in 2012 by Dr. Tobias Haack. Haack's Discovery was the result of a collaborative study with Dr Susan Hayflick's Lab at Oregon Health and Science University. *Disclaimer. The statistics above are based solely on currently available data and may not represent comprehensive or future information. WHAT WE DO Our Impact We understand the immense challenges faced by families affected by BPAN, and at Action for BPAN, we are dedicated to creating a meaningful impact. Through the funds we raise, we support vital BPAN research, drive awareness initiatives, and organize diverse fundraising efforts, including community events, sponsored challenges, corporate partnerships, and online campaigns. Beyond funding research, we are deeply committed to being there for affected families, offering support, understanding, and guidance through our own lived experiences. Our ultimate goal is to accelerate the development of effective treatments or a cure while providing hope and a strong sense of community for those navigating this journey. Research At Action for BPAN, we are committed to ensuring our community is kept informed about the progress of BPAN research as much as possible. We understand how isolating and frustrating it can be to feel uninformed, especially when the stakes are so high for families affected by this devastating condition. That’s why transparency and communication are at the heart of what we do. We will share regular updates through our website and social media channels, providing the latest news on research breakthroughs and milestones achieved. Whenever possible, we’ll collaborate directly with researchers to relay accurate and accessible information. Our goal is to ensure that no family feels uninformed or unsupported in this journey. Research Updates Fundraising Looking to make a difference? Amazing! Join our fundraising efforts and help us come up with new and creative ideas to support Action for BPAN. Your involvement can have a profound impact on the lives of those affected by this devastating condition. Together, we can accelerate the pace of research and bring hope to families who need it most. Fundraising is not only crucial but also an incredibly rewarding and positive experience. If you’re unsure where to start, we’re here to guide and coach you every step of the way, helping you turn your passion into action. Whether it’s organizing a community event, taking on a personal challenge, or finding new ways to raise awareness, you’ll be part of a movement that truly makes a difference. Join us and see how empowering it can be to help change lives while building connections and spreading hope. Help us Fundraise Volunteering Are you passionate about making a difference? Join us as a volunteer and use your unique skills and experience to support our mission. We welcome individuals who share our dedication to creating meaningful change in the BPAN community and are committed to making a positive impact. Whether you can offer your time, expertise, or creative ideas, your contribution will play a vital role in driving our work forward. Become a part of something truly special and help us bring hope to families affected by BPAN. Together, we can make a lasting difference. Apply to Volunteer LATEST POSTS

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