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Join us for our first official fundraiser to climb up Snowdon to support BPAN research! Help raise awareness and funds for this rare condition as we conquer the mountain together. Every step brings us closer to a cure. #actionforbpan #stepupforbpan We are thrilled to launch our first fundraiser for Action for BPAN on 21st June 2025! Born from both grief and necessity, our charity is the first of its kind in the UK, dedicated to raising vital funds for research into treatments and a cure, supporting families living with BPAN, and being a strong voice for our girls and children like them. Beta-propeller protein-associated neurodegeneration (BPAN) is a diagnosis we have both received for our daughters, Isabella and Emily. From that initial moment of devastation, we managed to find one another and, together, discover hope in what first felt like an utterly hopeless situation. So, what is BPAN? BPAN is a rare and devastating condition that impacts every aspect of a child’s life. Its symptoms are heartbreaking: as iron builds up in their brains, children with BPAN often lose their ability to walk, talk, and move. They endure complex, prolonged seizures, severe motor difficulties, and cognitive decline. As the condition progresses, they also develop symptoms of Dementia and Parkinson’s disease—illnesses typically associated with old age. Watching our daughters, and other children like them, face these challenges at an age when they should be playing and carefree is truly devastating. It’s a future we simply refuse to accept. Thanks to Kelly’s incredible fundraising efforts, over £100,000 has already been raised. This has helped fund the initial stages of ground breaking gene therapy research at Great Ormond Street Hospital. This pioneering work offers hope for a potential cure that could transform the lives of children like Isabella and Emily. This is where we need your help. This year, we’re taking on our first major fundraising challenge: climbing Snowdon. This climb isn’t just for Isabella and Emily, but for every person and family affected by BPAN. It’s our chance to raise the vital funds needed for research and to spread awareness of this devastating condition. This climb symbolises our determination to never stop fighting—for our daughters, for every child with BPAN, and for every family who feels as lost and helpless as we once did. But we can’t do it alone. We need your help. Together, we can make a difference. Together, we can give Isabella, Emily, and all BPAN children the future they deserve. Please step up for BPAN and climb for a cure—because every step brings us closer to life-changing treatments. Whether you donate, share our story, or join us as a fundraiser on the climb, your support matters— every step counts.. Please join us and donate if you can at https://www.justgiving.com/campaign/stepupforbpan Please share, follow, and spread the word about Action for BPAN #actionforbpan #stepupforbpan #forevergrateful Thank you so much! Kelly Sayers & Nicole Harper Co-founders of Action for BPAN & Mums of Emily and Isabella If you are one of the many who would like to get involved in joining us for the climb then please get in touch and see the below information pack.

Nicole Harper and I are absolutely thrilled to announce the official launch of our charity  Action for BPAN . This is such an exciting milestone which has to start with an enormous THANK YOU to everyone who has contributed to the previous few years of fundraising efforts, which I am delighted to share that Professor Kurian, a leading academic paediatric neurologist at Great Ormond Street Hospital and UCL, has used the funds to initiate the UK's first research project focused on developing curative gene therapy for BPAN! This groundbreaking research offers real hope for effective treatments for children living with this devastating life-limiting, neurodegenerative disease. Your support has been instrumental in reaching this pivotal milestone, creating a wealth of hope and forward-moving action that seemed unimaginable just a couple of years ago.  Inspired by this progress, Nicole and I have founded Action for BPAN to continue driving change, advocating for families, funding research, and creating brighter futures for our daughters and the hundreds of others diagnosed with BPAN. We would love you to learn more about our mission and ongoing work by visiting our website:  www.actionforbpan.com . For our first fundraiser,  Step Up for BPAN , we’re climbing  Snowdon  on Saturday, 21st June, and invite families and friends affected by BPAN to join this meaningful challenge. Together, we’ll raise funds and awareness while symbolising hope and commitment. If you'd like to join us, reach out via our Facebook page or email us on  actionforbpan@gmail.com . https://www.justgiving.com/campaign/stepupforbpan Your support has brought us this far - from the bottom of our hearts thank you for believing in this journey with us.  Please donate if you can, share, follow and spread the word about Action for BPAN across socials. Together, we’re making a difference. #actionforbpan #stepupforbpan #forevergrateful Kelly & Nicole Co-founders of Action for BPAN & Proud Mums of Emily and Isabella

Welcome to the world of BPAN, a rare neurodegenerative disorder that affects individuals worldwide. Today, we delve into BPAN and shed light on the efforts of Action for BPAN , a UK-based charity dedicated to advancing research and supporting families impacted by this condition. BPAN is a genetic disorder that primarily affects the nervous system, leading to a range of symptoms, including developmental delays, seizures, movement disorders, and intellectual disability. The condition is caused by mutations in the WDR45 gene, which plays a crucial role in regulating autophagy—a vital process for cellular maintenance, renewal, and healthy brain function. Autophagy, in simple terms, is a cellular mechanism that helps maintain cell health by degrading and recycling damaged or unnecessary components. In BPAN, mutations in the WDR45 gene disrupt autophagy, leading to cellular dysfunction and the accumulation of iron in the brain—a hallmark of the disease. Action for BPAN is at the forefront of the fight against this debilitating condition. The organization raises funds to support research initiatives focused on discovering a cure or effective treatments for BPAN. Through these efforts, they aim to accelerate the pace of research and provide hope to families navigating the challenges of this condition. In addition to funding research, Action for BPAN provides vital resources and information for families affected by BPAN. From educational materials to support networks, the charity serves as a lifeline for those dealing with the complexities of this rare disease. By fostering a community of understanding and compassion, they empower families and individuals impacted by BPAN. By raising awareness and encouraging collaboration among researchers, healthcare professionals, and families, Action for BPAN is paving the way for a brighter future for those living with this condition. Their unwavering dedication and commitment are making a meaningful difference in the lives of individuals with BPAN and their loved ones. Please support the crucial work of Action for BPAN. Together, we can bring hope and make a difference for those affected by this rare and challenging disorder.

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 Me 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

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 Step Up for BPAN: Snowdon Climb Join us for our first official fundraiser to climb up Snowdon to support BPAN research! Help raise awareness and funds for this rare... 52 5 likes. Post not marked as liked 5 The Launch of Action For BPAN: Get Involved Now Nicole Harper and I are absolutely thrilled to announce the official launch of our charity Action for BPAN . This is such an exciting... 12 4 likes. Post not marked as liked 4 What is BPAN? Welcome to the world of BPAN, a rare neurodegenerative disorder that affects individuals worldwide. Today, we delve into BPAN and shed... 4 4 likes. Post not marked as liked 4

Thank you for considering a donation to Action for BPAN. Whether you donate one-off or monthly, your support will help us fund the vital research into BPAN and helps provide hope to families affected by the condition. Every contribution brings us closer to a brighter future. DONATE We would be honoured if you could join us in our mission to raise money for a cure or treatment for BPAN. Every contribution, no matter how big or small, when combined will make a significant difference to research progress. We are grateful for your support and appreciate your willingness to help us make a positive impact for everyone living with BPAN. If you would like to support Action for BPAN by making a monthly or one off donation please use the purple JustGiving in button below. Action for BPAN uses JustGiving as they are a trusted provider with the lowest fees that enables us to maximise your donation. Other ways you can donate: There are a few ways in which we can receive your donation, all of which helps us enormously in our goal to fund research and treatment for BPAN. If you have raised money through your incredible fundraising efforts please let us know when you are paying you're fundraising in so we can send you confirmation. actionforbpan@gmail.com One-off Payment Use the button above to make a one-off payment in support of BPAN. You can choose a preselected amount or enter your own amount to donate. Please leave a personalised message too! Monthly Direct Debit Select the 'Monthly' option in the button above to set up a recurring monthly payment. You can choose the amount and opt in or out with JustGiving whenever you want. Bank Transfer You can use the following details to pay your donation directly to us: Name: Action for BPAN Account Number: 67384552 Sort Code: 08-92-99 IBAN: GB11CPBK08929967384552 BIC: CPBKGB22 Pay by Cheque If you would like to send a donation via post please send it to us at: Action for BPAN Westfield Lodge Old Mill Lane Bray, Maidenhead SL6 2BG United Kingdom Leave a Gift in your Will Leave a legacy of hope by including Action for BPAN in your will. Please follow this link to find out how you can do this.