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!

Action for BPAN Website Data Protection Policy Data Protection Policy Data Protection Policy - Last updated: 31/01/2024 Action for BPAN ("we", "our", "us") is committed to protecting and respecting the privacy and confidentiality of all personal data we process. As a registered charity in the UK, we aim to comply with the Data Protection Act 2018 and General Data Protection Regulation (GDPR). This Data Protection Policy explains how we collect, use, store, and protect your personal data when you visit our website www.actionforbpan.org.uk ("our site") and engage with our services. 1. Purpose of the Data Protection Policy The purpose of this policy is to outline how Action for BPAN processes personal data to ensure compliance with UK data protection laws. We are committed to safeguarding the privacy of individuals and the confidentiality of their personal data. 2. Scope of the Policy This policy applies to all personal data collected, processed, and stored by Action for BPAN, including but not limited to: Individuals who donate to the charity or sign up for events. Individuals who sign up for communications such as newsletters or updates. Individuals who interact with us via our website or other communication channels. 3. Data Controller The Data Controller for the purposes of this policy is Action for BPAN, which determines how and why your personal data is processed. Contact Information: Action for BPAN actionforbpan@gmail.com Westfield Lodge, Old Mill Lane, Bray, Maidenhead, SL6 2BG Registered charity number: 1210529 4. What Personal Data We Collect We may collect the following types of personal data: Personal Identification Information: Full name, contact details (email, phone number, postal address). Payment Information: Credit/debit card details and other payment information for processing donations. Donation Data: Information about donations, including amounts, frequency, and method of donation. Event Registration Data: Details of events or campaigns you participate in. Communication Data: Information you provide when you sign up for our newsletters, respond to surveys, or communicate with us. Technical Data: Information on how you use our website, such as IP address, browser type, and pages visited. 5. How We Use Your Personal Data We use your personal data for the following purposes: To process donations: To process and confirm your donations, provide receipts, and manage Gift Aid claims. To send communications: To send you updates, newsletters, and information about our activities, events, or campaigns. You may opt out of these communications at any time. For event management: To manage registrations for events or volunteer opportunities. To improve services: To analyse and improve the functionality of our website and services. For legal compliance: To comply with legal obligations, such as Gift Aid reporting and other regulatory requirements. 6. Legal Basis for Processing Your Data We process your personal data based on the following legal grounds: Consent: When you have given us explicit consent to process your data, such as when you subscribe to our newsletters or opt-in to communications. Contractual necessity: For processing donations or event registrations. Legal obligation: When we are required to process data to comply with legal requirements, such as claiming Gift Aid. Legitimate interests: For activities that are in our legitimate interests, such as direct marketing or fundraising, provided these interests do not override your rights and freedoms. 7. How We Protect Your Data We take appropriate measures to protect your personal data, including: Using encryption technologies to safeguard sensitive data, such as payment details. Ensuring that only authorized staff have access to personal data. Regularly reviewing our security practices to prevent unauthorized access, alteration, disclosure, or destruction of your data. Although we implement robust security measures, please note that no system is 100% secure. While we strive to protect your data, we cannot guarantee its absolute security. 8. Sharing Your Personal Data We do not sell, rent, or lease your personal data to third parties. However, we may share your data in the following circumstances: Service providers: We may share data with trusted third-party service providers who assist with payment processing, event management, and communication delivery. These third parties are required to keep your data confidential and use it only for the purposes for which it was provided. For Gift Aid claims: We may share your data with HMRC for claiming Gift Aid on eligible donations. For legal reasons: We may disclose your data if required by law or if necessary to protect our rights, safety, or the safety of others. 9. Your Rights Over Your Personal Data Under the UK Data Protection Act 2018 and GDPR, you have the following rights regarding your personal data: Right of access: You can request a copy of the personal data we hold about you. Right to rectification: You can ask us to correct any inaccurate or incomplete data we hold about you. Right to erasure: You can request that we delete your personal data, subject to certain legal exceptions. Right to restrict processing: You can ask us to limit how we process your data. Right to data portability: You can request a copy of your data in a machine-readable format to transfer to another organization. Right to object: You can object to certain types of data processing, such as marketing communications. Right to withdraw consent: You can withdraw any consent you have given for data processing at any time. To exercise these rights, please contact us at [email/contact information]. 10. Data Retention We will only retain your personal data for as long as necessary to fulfill the purposes outlined in this policy, or as required by law. Once your data is no longer needed, it will be securely deleted or anonymized. 11. Cookies We use cookies to enhance your experience on our website. Cookies are small text files that are placed on your device and help us analyze website traffic and improve functionality. You can control the use of cookies by adjusting your browser settings. However, please note that blocking certain cookies may affect the website’s functionality. For more detailed information about cookies, please refer to our Cookie Policy. 12. Third-Party Websites Our website may contain links to third-party websites. These sites have their own privacy policies, and we are not responsible for how they collect, use, or protect your personal data. We encourage you to review the privacy policies of any third-party websites before providing them with your personal information. 13. Changes to This Policy We may update this Data Protection Policy from time to time to reflect changes in our practices, legal requirements, or technology. Any changes will be posted on this page, and the "Last Updated" date at the top of the policy will be revised. 14. Contact Information If you have any questions about this Data Protection Policy or how we handle your personal data, please contact us: Action for BPAN Westfield Lodge, Old Mill Lane, Bray, Maidenhead, SL6 2BG actionforbpan@gmail.com Registered charity number: 1210529

If you're thinking about fundraising for Action for BPAN, take a moment to read the fundraising disclaimer to understand the rules of fundraising and ensure compliance with the Fundraising Regulator. Fundraising Disclaimer Last updated: 31/12/2024 Fundraising Disclaimer for Action for BPAN By fundraising on behalf of Action for BPAN, you agree to the following: Compliance with UK Charity Law and Fundraising Regulations: You agree to comply with all relevant UK charity laws, including the Charities Act 2011 and the Fundraising Regulator’s Code of Fundraising Practice. This includes obtaining any necessary permits, licenses, or permissions for your fundraising activity. You must not engage in any illegal or unethical fundraising activities. Use of Funds: All funds raised must be transferred directly to Action for BPAN and used in accordance with the charity's objectives. You agree to keep accurate records of donations and ensure funds are handled responsibly. Fundraising Transparency: You agree to be transparent in your fundraising efforts. Donors must be made aware that they are donating to Action for BPAN. If any fundraising costs or expenses are incurred, these must be clearly communicated to donors beforehand. Data Protection and Privacy: You agree to comply with the Data Protection Act 2018 and GDPR (General Data Protection Regulation). Personal data collected during fundraising must only be used for the purpose of the fundraising activity and handled securely. Donors’ personal information must not be shared without consent. Use of Charity Name and Branding: You must seek Action for BPAN’s prior approval before using the charity's name, logo, or any branding. All fundraising materials must be approved to ensure they are aligned with our charity’s values and messaging. Health and Safety: You agree to comply with all relevant health and safety regulations for any events or activities. You are responsible for ensuring the safety of participants and the public during fundraising activities. Fundraising via Online Platforms: If you are fundraising through third-party platforms (e.g., JustGiving, Facebook), you must ensure that these platforms are authorized and comply with UK fundraising regulations. Where possible, you should use Action for BPAN’s official donation channels. Accountability and Reporting: You agree to report the total funds raised and ensure they are sent to Action for BPAN in a timely manner. If requested, you must provide evidence of the funds collected and any associated costs. Refund Policy: If a donor requests a refund, you must inform them that they should contact Action for BPAN directly for assistance, as all donations are processed through the charity. Non-Misrepresentation: You will not make any false or misleading claims about Action for BPAN or its activities. All representations of the charity must be accurate and truthful. Thank you for your support. Your fundraising helps us to raise awareness and support for BPAN. If you have any questions or concerns please contact us at: actionforbpan@gmail.com Action for BPAN Westfield Lodge, Old Mill Lane, Bray, Maidenhead, SL6 2BG actionforbpan@gmail.com Registered charity number: 1210529

Get involved with Action for BPAN and make a difference! Explore various fundraising options For fundraising at school to help support research and give hope to families affected by BPAN. Fundraising at School Fundraising for Action for BPAN at school is rewarding for students and staff alike. Not only does it support a worthy cause, it teaches kids the joy of helping others while having fun. Share ideas with your school or after school clubs and make a positive impact together! Take Some Inspiration! Set Up Your Fundraising Page Be sure to register your fundraising with us at the bottom of this page and share your story across social media along with plenty of photos to make your page truly stand out! To make organising your sponsorship simple and effective, we recommend using an online fundraising platform like JustGiving . Not only does it streamline the donation process, but it also allows us to claim Gift Aid - an additional 25% on eligible donations from UK taxpayers. This means that a £10 donation could be worth £12.50 at no extra cost to the donor! You can easily share your fundraising page with a JustGiving link or QR code to encourage even more people to support your efforts. If you need any support with any of this please just ask us, we are here to help. Guess how many.. Challenge pupils to guess how many items are in a jar for a small donation and prize! Own Clothes or Theme Day Get the whole school involved and ask for an own clothes day for Action for BPAN - Perhaps this would be good to do for rare disease day on the 28th of February Swimathon Get the PE department or after school swim club involved and ask to do a swimathon for Action for BPAN, ask students to take sponsorship forms home for family and friends to donate £1 per meter swam or donate a certain amount if they swim for a pre-determined amount of time! Get the teachers in the water for added fun! Car Wash A simple and profitable event that can be held outdoors with the help of volunteers and staff Bake Sale A delicious way to raise money, and you could even add a contest to motivate your bakers? Art Fair Challenge pupils to show off their drawing skills and enter your Action For BPAN competition for a small fee. Talent Show Show off your amazing talents that are sure to bring in a crowd while charging a ticket fee for action for BPAN Raffle Why not hold a raffle? You can ask for donations from local people and businesses as prizes, and sell raffle tickets for a small amount. Please make sure you check the rules for holding a raffle, we’re here to help if needed. Please see Gov guidance here Turn £5 into.. Give groups of students £5 to try and turn into more. They could bake or make crafts to sell Sponsored events Encourage students to practice skills they've learned in class while raising money. For example, host a read-a-thon or spell-a-thon where students receive pledges from friends, family, or peers. You can collect pledges in cash with our sponsorship form or online. Wacky Hair Day Try out the wackiest hairstyle you can think of for a donation Coffee Morning for Parents Love a good natter over a coffee and a slice of cake? Coffee mornings are a lovely way to raise money that doesn't require much organisation and it's an excellent excuse for a good catch-up! How Your Efforts Can Help Your fundraising will play a crucial role in helping Action for BPAN fund a cure or treatment for BPAN. By organising events in your with your child's school, friends can come together to raise awareness and funds for this devastating and underfunded disorder that takes so much from so many families. With Action for BPAN's funding and support to dedicated individuals and organisations, we want to ensure the vital research crosses the finish line and improves the lives of those affected BPAN. Contact Us Are you ready to make a difference and raise funds for Action For BPAN? We're thrilled to help you on your fundraising journey! Our team is passionate about supporting you so please get in touch to register your fundraising and let's make your fundraising dream a reality! Select the option 'Fundraising' to talk to us about your idea or query! 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

Explore the Action for BPAN gallery to see the inspiring photos of families, fundraisers, and moments that bring families and community together in the fight against BPAN. Gallery Action for BPAN would be thrilled to showcase your incredible fundraising efforts in our gallery! We would love to highlight the impact you're making, so please send us your photos and videos to be featured. Your contributions help raise awareness and support for BPAN, and we can't wait to share your inspiring work with our community! Event Galleries AFB patient day at GOSH 2026 VEIW GALLARY Step Up For BPAN Snowdon 2025 VEIW GALLARY AFB Golf Day 2025 VEIW GALLARY Wellness Day 2025 VEIW GALLARY The Marvellous Festival 2025 VEIW GALLARY Fundraising photos

Review Action for BPAN’s cookie policy to understand how we use cookies on our website and how we protect your privacy while providing a better user experience. Cookie Policy Terms and Conditions Last updated: 31/01/2024 How We Use Cookies We use cookies on our website for the following purposes: Essential Cookies: These cookies are necessary for the website to function properly. They enable basic features like security, page navigation, and access to secure areas of the website. Without these cookies, the website would not function as intended. Performance Cookies: These cookies help us understand how visitors interact with our website by collecting information about the pages they visit and any errors they encounter. This helps us improve the performance of our website. Functional Cookies: These cookies allow us to remember choices you make, such as your language preferences or donation preferences, and provide enhanced, more personalized features. They may also be used to remember if you have already provided consent to our Cookie Policy. Targeting or Advertising Cookies: These cookies track your browsing habits across other websites to deliver more relevant advertisements to you. We may also use third-party cookies for tracking and reporting purposes (such as through Google Analytics). 3. What Cookies Do We Use? Here are some of the cookies used on our website: Google Analytics Cookies: These cookies are used to collect information about how visitors use our website. This information is used to create reports and help us improve the site. The data collected includes the number of visitors, where visitors have come to the site from, and the pages they visited. Example: _ga, _gid, _gat Session Cookies: These cookies are temporary and are erased once you close your browser. They are used to store temporary information, such as login status, preferences, or items in a shopping cart. Persistent Cookies: These cookies remain on your device for a specified period or until you delete them. They are used for remembering your preferences across sessions, like language settings or login credentials (where applicable). 4. Managing Cookies You can manage and control your cookie settings in several ways: Browser Settings: Most browsers allow you to refuse or accept cookies. You can change the settings on your browser to block cookies or delete cookies that have been placed on your device. Please note that if you choose to block cookies, certain features of the website may not work correctly. For instructions on how to control cookies in different browsers, visit the following pages: Google Chrome Mozilla Firefox Safari Microsoft Edge Cookie Consent Tool: When you first visit our website, you will be asked to consent to the use of cookies through a pop-up banner. You can manage your preferences by clicking on the "Cookie Settings" link in the banner, which allows you to enable or disable non-essential cookies. 5. Third-Party Cookies We may also use third-party services that set cookies on our website. These third parties may include advertising networks, social media platforms, or analytics providers. Action for BPAN does not control these third-party cookies and advises you to review their respective cookie policies for more information. Examples of third-party cookies we use include: Google Analytics: Used to analyze traffic and website usage. Facebook and Twitter: Used for social media sharing buttons and tracking social media interaction. YouTube: Used when embedding videos from YouTube on our site. 6. Changes to This Cookie Policy We may update this Cookie Policy from time to time to reflect changes in how we use cookies or to comply with legal requirements. When we update this policy, we will post the new version on this page and update the “Last Updated” date at the top of the policy. We encourage you to review this policy regularly to stay informed about how we use cookies. 7. Contact Us If you have any questions or concerns about this Cookie Policy or how we use cookies, please contact us at: Action for BPAN Westfield Lodge, Old Mill Lane, Bray, Maidenhead, SL6 2BG actionforbpan@gmail.com Registered charity number: 1210529

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. 1/9 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 Action For BPAN Gallery 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 Isabella and Emily are just two of the many amazing children living with BPAN Discover more of the inspiring family stories that make our community so special Family Stories 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 Latest Posts 1 2 3 4 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

Discover who we are at Action for BPAN, our mission to fund the vital research, support affected families , and raise awareness for a brighter future. Action for BPAN Action for BPAN is a charity founded by two dedicated mothers, Nicole Harper and Kelly Sayers, whose lives were forever changed when their daughters were diagnosed with BPAN (Beta-Propeller Protein-Associated Neurodegeneration). Despite the rare and devastating nature of the condition, Nicole and Kelly found each other through a worldwide Facebook group for BPAN families, where they connected over their shared journey and the urgent need for a cure . Motivated by their love for their daughters and the lack of available treatments, they co-founded Action for BPAN with a mission to raise critical funds for research, support families affected by BPAN, and advocate for better awareness and care. Kelly's incredible fundraising efforts had already raised over £100,000, which helped kick-start the first stages of gene therapy research at Great Ormond Street Hospital in 2024. This ground-breaking work is paving the way for potential treatments that could change the lives of BPAN children worldwide. With an unwavering commitment , both mothers have dedicated their time and energy to this cause, not just for their daughters, but for every child affected by BPAN. They believe that together, with the support of the community, we can create a cure and give every child a brighter future. OUR VALUES Commitment , Transparency , Innovation , and Integrity . These core values have been at the heart of the Action for BPAN mission since our founding. We wholeheartedly commit to our work with passion and dedication, striving to make a meaningful impact in the lives of those affected by BPAN. We operate with transparency , openly sharing our efforts with the community and inviting others to join us in our mission. We also challenge ourselves to think creatively, applying an innovative approach to tackle challenges and drive meaningful progress. Most importantly, we operate with integrity and respect , ensuring that every action we take reflects our unwavering commitment to those we serve. We aim to bring simplicity to a complex disorder, empowering people with the knowledge that there is always something positive that can be done. This mission continues to guide the success and purpose of Action for BPAN, inspiring hope and progress every step of the way. ACTION FOR BPAN TEAM This is our amazing team! Our trustees and medical advisers come from diverse backgrounds, including healthcare, law, business, fundraising, and of course, our personal connections to loved ones with BPAN, together we work to ensure the success of the charity. We are united by a shared goal - to advance research, raise awareness, and ultimately achieve a cure and viable treatments for BPAN. Kelly Sayers Co-Founder & President After Emily’s diagnosis in 2020, I made the life-changing decision to leave my 20-year career in IT software sales to dedicate myself fully to our family. Alongside being Emily's full-time carer and advocate, I am also a proud parent to her older brother Maxi, whose needs and wellbeing remain central to our lives. Supporting both of my children required constant learning, research and unwavering commitment - a responsibility I embrace wholeheartedly. My curiosity about people and what drives them shapes my approach to challenges. I strive to give my best in all I do, guided by integrity. Stepping outside my comfort zone is a personal mission, and I enjoy building connections, fostering collaboration, and creating win-win solutions. Words cannot capture my passion and determination to find a cure for BPAN and support the incredible community on this journey. This mission is my purpose. Schalk Visser Treasurer Schalk Visser is a finance and capital markets executive with over 25 years of experience in investment management, investor relations, and capital raising across global markets. Currently the Managing Director of Selinus Partners Ltd. Schalk has held senior leadership roles at major firms including Mitsubishi Estates, AEW Europe, and CBRE Investors. His expertise spans capital raising, fund structuring, compliance, and global team leadership. Schalk holds a B.Com in Finance and Economics, a B.Com Hons. in Investment Management, and is a CFA charterholder. Dr. Apostolos Papandreou Medical and Research Advisor Apostolos studied medicine in Greece, before moving to the UK in 2007 for postgraduate training in paediatrics and, subsequently, in paediatric neurology (GOSH, 2013-2021). He clinically specialises in paediatric-onset movement disorders. His PhD (2015-2019) and post-doctoral (2021-2022) studies focused on BPAN, understanding its pathophysiology and developing novel, disease-specific therapeutics for affected young people. After finishing training in 2021, he worked as a consultant at the Evelina Children's Hospital in London (2021-2024) and now works at Cambridge University Hospitals (2024-onwards). Nicole Harper Co-Founder & Secretary Mother of Isabella, who was diagnosed with BPAN in 2021. When we received Isabella’s diagnosis, we were faced with the harsh reality that there was no UK charity dedicated to BPAN. This drove me to connect with other families in the UK and beyond, seeking support and understanding of what was happening to our little girl. I am a determined and focused person who has always been a problem solver. I cannot accept Isabella’s current future, and this mindset fuels my commitment to change the course of her life. Through this journey, I’ve learned that research into BPAN is advancing rapidly, and I am driven by the progress being made toward a cure and effective treatments. Motivated by that progress and my love for Isabella, I’ve dedicated myself to Action for BPAN—using my skills and passion to support research, advocate for families, and make a meaningful difference in the lives of those affected by this rare condition. Susannah Kemmis Legal Trustee Susannah is a qualified solicitor with over 25 years of experience in the Investment Banking & Finance and Commercial Property legal sectors. She is the owner & director of a corporate commercial legal practice and has spent many years sitting on the board of an Educational Trust. Susannah, her husband, and two children are keen fundraisers. They've undertaken many challenges, including recently climbing Mt. Kilimanjaro and diving with sharks, for causes close to their hearts, and they are fully committed to doing everything possible to raise awareness and funds to support Action for BPAN.

Access downloadable fundraising materials to help you get started with your fundraising efforts for Action for BPAN. Find tools and resources to support your mission to raise awareness and funds for BPAN research. Fundraising Materials If you need any assistance, advice, or help creating materials for your fundraiser, especially if you have something specific in mind, then please don't hesitate to reach out. We’re here to support you and will do our best to assist in any way we can. If you would like to fundraise for Action for BPAN, please remember to register your fundraising efforts using the contact form at the bottom of this page. Action for BPAN Sponsorship form Action for BPAN Totaliser Please let us know if you would like us to add to your own fundraisers QR code to the totalizer. Action for BPAN Bunting (Pink) Action for BPAN Bunting (Blue) More fundraising materials will be available soon... 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

Discover how you can support Action for BPAN by using your skills or services to help fundraise. Learn how your unique talents can make a difference in the fight against BPAN. Skills or Services Use your skills or services to fundraise for charity! Offer lessons, workshops, or creative services in exchange for donations. It’s a meaningful way to share your talents, interests, side hustles, etc. and make a positive impact in doing so. Take Some Inspiration! Set up a Fundraising Page There are lots of ways to seek sponsorship for challenges large and small. Whether you choose to travel miles for your challenge or you pick an event that is run locally, you can ask friends, family, and work colleagues to support you with a donation. Don't forget to register your fundraising at the bottom of this page, and make sure to add your story and lots of pictures to make it extra special! We recommend using an online fundraising platform such as Just Giving to make organising your sponsorship super easy! We can also collect Gift Aid which is an additional 25% so this means that if your donor is a UK taxpayer a £10 donation would actually be worth £12.50! Use Your Skills or Services to Fundraise for Charity Looking for a creative way to give back to a cause that matters to you? Why not use your unique talents, hobbies, or professional skills to raise funds for Action for BPAN? By offering lessons, workshops, or creative services in exchange for donations, you can make a significant difference in the fight against BPAN, all while doing something you love. It's a powerful and meaningful way to combine your passion with philanthropy. Whether you're an artist, teacher, coach, or entrepreneur, there are countless ways to use your skills to raise money for BPAN research and support families affected by this devastating condition. Here are just a few ideas to inspire you: Offer Workshops or Classes Share your expertise by hosting a workshop or class in areas like painting, cooking, photography, fitness, or dance. Set up a "pay-what-you-can" or suggested donation system where participants contribute to Action for BPAN. Use online platforms to host virtual workshops, allowing supporters from all over the world to participate. Host Creative Events If you're a musician, consider hosting a concert, open mic night, or live stream performance in exchange for donations. Writers or poets could offer a special reading or create personalized poems for donations. Craft enthusiasts can offer handmade goods or set up a craft-making session with all proceeds going toward BPAN research. Personalized Services for Donations Offer personalized services like photography, event planning, web design, or graphic design in exchange for donations to Action for BPAN. Offer a service, such as dog walking, babysitting, or tutoring, with the proceeds going to the charity. If you have a particular talent—like makeup artistry, styling, or gardening—use it to host a session or experience for others, where the fee goes toward raising funds. Host a Virtual Challenge or Event Whether it's a fitness challenge, a virtual race, or a creative competition, encourage people to donate to participate. Examples include a "sponsored run," "dance-a-thon," or a 30-day art challenge—where participants commit to doing an activity or task each day in exchange for raising funds. Leverage Your Business or Side Hustle If you have a small business or side hustle, consider donating a percentage of your sales or profits to Action for BPAN. Restaurants, cafes, and other service-based businesses can host special fundraising days where a portion of the revenue supports BPAN research. Organize Online Auctions Use your creative talents or connections to curate an online auction with donated items, services, or experiences. People can bid on unique experiences—like a cooking lesson, a private concert, or a customized art piece—and all proceeds go to BPAN research. Don't forget to check for guidance here first. Host a Virtual or In-Person "Pay It Forward" Event Organize a community event where people can offer services to one another in exchange for a donation to Action for BPAN. For example, you could have a "skills exchange" where people donate their time and talents, and in return, they make a contribution to the charity. Contact us today to discuss how we can work together to make a difference. Together, we can help bring hope to those affected by BPAN and make meaningful progress in the search for a cure. How Your Efforts Can Help Your fundraising will play a crucial role in helping Action for BPAN fund a cure or treatment for BPAN. Your efforts will truly help us to raising awareness and funds for this devastating and underfunded disorder that takes so much from so many families. With Action for BPAN's funding and support to dedicated individuals and organisations, we want to ensure the vital research crosses the finish line and improves the lives of those affected BPAN. Contact Us Are you ready to make a difference and raise funds for Action For BPAN? We're thrilled to help you on your fundraising journey! Our team is passionate about supporting you so please get in touch to register your fundraising and let's make your fundraising idea a reality! Select the option 'Fundraising' to talk to us about your idea or query! 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

Get inspired with ideas and tips for fundraising in your community to support Action for BPAN’s mission to fund research and bring hope to families affected by BPAN. Fundraise in Your Community Fundraising for Action for BPAN unites your community while supporting a worthy cause. It is a great opportunity to bring people together and create unforgettable memories. Whether hosting an event or a small gathering, rally your friends, family, and neighbours to make a difference together! Take Some Inspiration! Set Up Your Fundraising Page Be sure to register your fundraising with us at the bottom of this page and share your story across social media along with plenty of photos to make your page truly stand out! To make organising your sponsorship simple and effective, we recommend using an online fundraising platform like JustGiving . Not only does it streamline the donation process, but it also allows us to claim Gift Aid - an additional 25% on eligible donations from UK taxpayers. This means that a £10 donation could be worth £12.50 at no extra cost to the donor! You can easily share your fundraising page with a JustGiving link or QR code to encourage even more people to support your efforts. If you need any support with any of this please just ask us, we are here to help. Local Events in your area We have the Superhero Tri which is a unique and inclusive triathlon event held annually at Dorney Lake, Windsor, there are many other events run by a vast array of organisers that you can join and fundraise for Action for BPAN. See fundraiser regulator guidance here . Picnic or BBQ Host a picnic or BBQ fundraiser to support charity! Bring your community together for delicious food, fun activities, and a great cause. Enjoy the day while making a meaningful impact! Car Wash A simple and profitable event that can be held outdoors with the help of volunteers and staff Bake Sale A delicious way to raise money, and you could even add a competitive element to motivate your bakers? Raffle Why not hold a raffle in your town or village? You can ask for donations from local people and businesses as prizes, sell raffle tickets for a small amount. Please make sure you check the rules of holding a raffle, we’re here to help if needed. See gov guidance you will need to follow here . Sports Tournaments Football, Golf, Show Jumping! Whatever your sport, organise a tournament in the name of Action for BPAN. You could even ask local shops or businesses to donate prizes and charge an entry fee to competitors. If you need a hand just let us know we're happy to help! Trivia Night Bring the community together at a local bar or restaurant for a fun night of TRIVIA!! Bingo Always a fun game that's great for getting people of all ages together for a good time! see the guidance you will need to follow here. Coffee Morning Love a good natter over a coffee and slice of cake? Coffee mornings are a lovely way to raise money that doesn't require much organisation and it's an excellent excuse for a good catch up! Seasonal Fundraising Do you love the holidays Halloween, Christmas, Easter? you could transform your home into an extravagant display for your community to marvel at while raising funds for Action For BPAN! Please let us know so we can send you a donation QR link to display for your donations. Fundraising in Celebration Whether you’re celebrating a wedding, civil partnership, anniversary, birthday, retirement or another special occasion, you can support Action for BPAN by asking friends and family for charity donations in lieu of gifts. How Your Efforts Can Help Your fundraising will play a crucial role in helping Action for BPAN fund a cure or treatment for BPAN. By organising events in your community, friends and family can come together to raise awareness and funds for this devastating and underfunded disorder that takes so much from so many families. With Action for BPAN's funding and support to dedicated individuals and organisations, we want to ensure the vital research crosses the finish line and improves the lives of those affected BPAN. Contact Us Are you ready to make a difference and raise funds for Action For BPAN? We're thrilled to help you on your fundraising journey! Our team is passionate about supporting you so please get in touch to register your fundraising and let's make your fundraising idea a reality! Select the option 'Fundraising' to talk to us about your idea or query! 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

Honor a loved one by making a donation in their memory to support Action for BPAN’s mission. Your contribution helps fund vital research and provides hope to families affected by BPAN. Make a Donation In Memory Action for BPAN would be honoured to receive donations in memory of loved ones. We understand that losing someone can be a difficult time and would be honoured to be a part of the celebration of their life. Thank you for considering this heartfelt gesture. Donate in Memory of a Loved One At Action for BPAN, we are deeply touched to receive donations made in memory of those we have lost. We understand that the loss of a loved one can be an incredibly difficult and emotional time. A donation in their name can offer a sense of comfort and a meaningful way to honour their life and the love they brought into the world. Your thoughtful gift will directly contribute to funding critical research and provide hope for a cure or treatment for those affected by this rare and devastating condition. please let us know if you would be happy for us to include a picture and message of remembrance along with our heartfelt thanks. Please get in touch We understand that donating in memory of a loved one is a deeply personal and heartfelt gesture. We would be honored to have a conversation with you to explore how we can make this tribute as meaningful and special as possible Our team is committed to supporting you throughout this process, we are here to guide you every step of the way. Please don't hesitate to reach out to our compassionate team to discuss your options and how you can make a meaningful impact on the future of BPAN research and support. 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

Review Action for BPAN's privacy policy to understand how we protect your personal information and privacy while supporting our mission. Privacy Policy Privacy Policy Last Updated: 31/12/2024 Action for BPAN ("we", "our", "us") is committed to protecting and respecting your privacy. This Privacy Policy explains how we collect, use, store, and protect your personal data when you visit our website www.actionforbpan.org.uk ("our site"), donate to us, sign up for communications, or engage with us in any other way. By using our site and engaging with our services, you agree to the collection and use of information in accordance with this Privacy Policy. 1. Who We Are Action for BPAN is a registered charity in the UK (Charity Number: 1210529). We are dedicated to providing support and information about BPAN to those who need it, raising awareness and supporting research into BPAN (Beta-propeller protein-associated neurodegeneration). 2. Information We Collect We collect several types of personal data to provide and improve our services: Personal Identification Information: Name, email address, postal address, phone number, and payment details when you make a donation or register for an event. Payment Information: Credit/debit card details and other payment information for processing donations (please note that payment data is processed by third-party payment processors such as PayPal or JustGiving). Donation Data: Details of donations you make, including the amount, method, and frequency of your donations. Communication Data: Information you provide when signing up for newsletters, events, volunteer opportunities, or responding to surveys. Technical Data: Information about how you use our website, such as IP address, browser type, operating system, and page interactions, collected via cookies. 3. How We Use Your Data We use your data for the following purposes: To process donations: To process your donations, provide receipts, and claim Gift Aid (if applicable). To send communications: To keep you informed about campaigns, research, events, fundraising opportunities, and other initiatives related to our charity. For legal and compliance purposes: To comply with legal obligations, including reporting for Gift Aid claims and other regulatory requirements. To improve our website and services: To analyze website usage, improve user experience, and respond to your inquiries or feedback. For administrative purposes: To manage your records, such as keeping track of donations or event registrations. 4. Legal Basis for Processing Your Data We process your personal data under the following legal bases: Consent: When you opt-in to receive communications (e.g., newsletters, event updates), participate in campaigns, or provide donations. Contractual necessity: To process donations, fulfill event registrations, and other services you request. Legal obligations: To comply with applicable laws, such as reporting Gift Aid and tax compliance. Legitimate interests: To manage the relationship between us, including contacting you regarding fundraising activities, events, and services that may be of interest to you. 5. How We Share Your Data We will never sell or rent your personal data to third parties. However, we may share your data in the following circumstances: With service providers: To process payments, provide communications, or manage website functionality. These service providers will only use your data as necessary to perform their functions and are obligated to keep your information secure. For Gift Aid claims: We may share your details with HMRC to claim Gift Aid on eligible donations. For legal reasons: We may share your data if required to do so by law or in response to legal requests by public authorities, including law enforcement agencies. 6. How We Protect Your Data We take your privacy seriously and implement appropriate technical and organizational measures to protect your personal data. These measures include: Secure servers for storing personal data. Encryption of sensitive data, such as payment details, during transmission. Regular security assessments and audits of our systems. While we take reasonable steps to protect your personal data, please note that no method of transmission over the Internet is 100% secure. We cannot guarantee the security of data transmitted to our site, and you do so at your own risk. 7. Your Rights Regarding Your Data You have several rights regarding the personal data we hold about you: Right of access: You have the right to request a copy of the personal data we hold about you. Right to rectification: You have the right to correct any inaccurate or incomplete information we hold about you. Right to erasure: You can request that we delete your personal data, subject to certain exceptions (e.g., if we need to retain it for legal reasons). Right to restriction of processing: You can request that we limit how we process your data in certain circumstances. Right to data portability: You can request that we transfer your personal data to another organization in a structured, commonly used, and machine-readable format. Right to object: You can object to our processing of your personal data in certain situations. Right to withdraw consent: If we are processing your data based on your consent, you can withdraw that consent at any time. If you wish to exercise any of these rights, please contact us at actionforbpan@gmail.com . 8. Cookies Our website uses cookies to enhance your browsing experience. Cookies are small files placed on your device that help us improve site functionality, remember preferences, and analyze site traffic. You can control the use of cookies by adjusting your browser settings. However, blocking certain cookies may affect the functionality of the website. For more detailed information on how we use cookies, please see our Cookie Policy. 9. Third-Party Websites Our website may contain links to third-party websites. These links are provided for your convenience, but we are not responsible for the content, privacy policies, or practices of these third-party sites. We encourage you to review their privacy policies before sharing your personal data with them. 10. Changes to This Privacy Policy We may update this Privacy Policy from time to time. Any changes will be posted on this page, and we will update the "Last Updated" date at the top of the policy. We encourage you to review this policy periodically to stay informed about how we are protecting your data. 11. Contact Us If you have any questions or concerns about this Privacy Policy, or if you wish to exercise any of your rights under data protection law, please contact us: Action for BPAN Westfield Lodge, Old Mill Lane, Bray, Maidenhead, SL6 2BG actionforbpan@gmail.com Registered charity number: 1210529

Read Emily'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 Emily and the honest impact BPAN has on her and her family. Emily's Story People always comment on Emily's sweet nature and her passion for life, she teaches us so much about perspective, living in the moment and determination. I hope with all my heart and soul that Emily's story continues to be a happy one, and I will do everything in my power to make that happen.. Kelly Emily's Mum x Facing adversity... It is so hard to know where to begin, I actually cannot stand thinking back to that awful day that Emily had her first seizure, a crazy 72 minute long eternity. It was a horrifically frightening thing to witness happening to your 15 month old little girl, we were all at home, Maxi, Emily, Oliver and I, and I remember Oli was upstairs in the shower when Emily became floppy and unresponsive, she was just staring over my shoulder, not looking at anything and dribbling, I held on to her repeating over and over, mummy’s here sweetie, I told Maxi to go get daddy quick as I needed him. When Oli saw Emily we quickly decided we’d get her in the car and take her to the hospital a couple of minutes away, on the way Emily’s lips started turning blue and twitching. Maxi was asking if Emily is ok and what’s wrong with her, all we could say was that she just needs help from the Dr and she’ll get better so try not to worry - this was obviously much easier said than done. When we arrived, we got taken in to a private room and I put Emily in a bed and stayed next to her as they put oxygen on, we explained what had happened, the Dr asked many questions and decided to give Emily rectal diazepam to stop (what we now knew was) the seizure, this did nothing and Emily was going blue by this stage. As I focused on talking to Emily, the Dr and Oli were calling an ambulance as we were at an outpatients hospital without an A&E department, we clearly hadn’t known this before, the Dr explained he was a GP and he’d reached the extent of what he could do, unbelievably the ambulance service still deprioritized Emily as we were at a medical facility, even though the GP was explaining this little girl is going to die if you don’t come immediately, he was advised to administer more rectal diazepam, and again this had no effect on poor Emily who’d been seizing now for about 30 minutes. Oli was reaching boiling point and the GP had put the phone on speaker saying the Dad was standing with him and to repeat what they had said, shockingly they said “we are busy” and hung up!! At this point we were desperate and the GP said let’s get her in my car, we’ll take her to the hospital ourselves, it’s her best chance as she is dying here, so in an instant we picked Emily and the oxygen tank up, grabbed Maxi from the waiting room, and were just getting outside when the paramedics turned up, Emily and I quickly got into the ambulance, explaining all the way what had happened leading up to this point, they strapped me and Emily into the bed and we were blue lighted for 20 minutes to the hospital, Emily was laying on me absolutely exhausted and so weak at this point, she looked like she was passing in and out of consciousness but the paramedic kept opening her eyelids and could see she was still seizing. I just kept talking to Emily so she knew I was right there with her. When we finally got to the hospital, it was a barrage of nurses and Dr’s coming to prod and pull at Emily, I remember needing to stand back but keeping hold of her tiny hand, answering all their questions and finally asking my own of weather she was still having the same seizure, again the answer was yes and my heart sank even further knowing this was truly bad. Oli flew in explaining that Maxi (who was 4 at the time) wasn’t allowed in here so we did a quick swap where Oli stayed with Em and I went to check on Maxi and tell him Emily was getting the Dr’s help now and what an amazing boy he’d been, he was shaken but he was so brave and strong. Oli had called our amazing friend “Auntie Lisa” who’d dropped everything to come pick Maxi up from the hospital and take him back to his best buddy Harrison to take his mind off this awful situation. When both Oli and I back were back in with Emily one of the Dr’s said they need to get a line in to one of Emily’s veins, this was an almost impossible task, it must have taken 20 attempts in each limb to get it in, we will never forget this twisted moment of elation at hearing Emily crying out and wriggling at the pain, it was more life than we’d seen in what had now been a 72 minute long seizure, and we believe that was what got it to finally stop wreaking havoc on Emily’s poor little body. One of the Dr’s noticed that Emily was only moving one side of her body and she was rushed away from us to get an immediate CT scan, the wait despite the hectic ER department that surrounded us felt like an intolerable silence, I can’t even tell you how long it was, but when Emily was back with us, she was out for the count, the diazepam well and truly taken hold, FINALLY stable and sleeping off her ordeal whilst we waited to understand why this nightmare had happened. We were transferred to the Paediatric ward and it was here, now half a day later, that Emily woke up and gave us her beautiful smile, seeing her getting back to her usual happy self was such a relief, I can’t even express with words. We saw the consultant that night, who believed Emily had experienced a temperature related seizure, known as a febrile seizure, caused by an infection in her throat, she was also teething so this had added to the increase in temp, she was put on two types of antibiotics one for bacterial and one for viral infections, and they wanted to observe Emily overnight and said they’d come back and discuss next steps with us the next day after reviewing the CT scan and other test results. After an uncomfortable but thankfully uneventful night, the consultant explained that febrile seizures are more common in children than we might realise, the CT scan showed slightly prominent ventricles in Emily’s brain but it wasn’t something that needed further investigation at this stage, we should keep a close eye on her while the infection clears up but they were comfortable that we could go home. Utterly exhausted and still riddled with worry, we went home. Emily got better, we got back to our usual routines and life returned to normal, aside from the underlying worry of what if there’s something more going on. Prior to this first seizure, we had started to worry that Emily wasn’t meeting the usual milestones and was not just on the slower end of the scale, our only previous experience was with Maxi and he was always ahead of expectations, so we convinced ourselves for a while anyway that it was an unfair comparison and Emily would get there in her own time. Emily was such a content and easy baby, she’s been besotted with her brother from day 1, watching his every move! Maxi would go into performance mode for her, jumping around like a mad thing! He always got Emily giggling away at his antics! Emily rolled over at 5 months old, started sitting unsupported at 6 months old, and then went to a bum shuffle to get around when she felt like it (which wasn’t often!), eventually crawling at 14-15 months old, followed by walking alone at 17 months old. Emily’s 2nd seizure happened 4 months after the first, it was much shorter and less intense than the first but still incredibly frightening to see, it was also the trigger point for us to realise there’s clearly something else going on with our little lady that we needed to get to the bottom of. Oli was out of the country working so immediately flew back and came straight to the hospital, Emily was awake and ready for Daddy cuddles, exhausted bless her - having a seizure is like running a marathon apparently. When we got to speak to the consultant he explained the need to put Emily on medication for Epilepsy, that we could choose between 2 anticonvulsant drugs, one of them hadn’t been used on children under 2 before and the other, Dr Google told us, was in the past linked to difficulties in pregnancies later on in life, and here starts the journey of having to choose between the lesser of two evils. We also got given emergency medication for the next time a seizure started, and trained on how to administer it, along with the staff at Emily’s nursery. It was reassuring to know we had a plan in place and knew what to do for next time, but Oli and I always said we felt like the seizures were a symptom of something underlying going on, not the main reason causing Emily to have the seizures, it was just a gut feeling but it drove us to push the NHS hard for answers. Even though we kept increasing the dose of anti-seizure medication unfortunately it didn’t control the seizures and on average it was every 2-3 weeks that we had to call an ambulance to get Emily back in to A&E, eventually we stopped calling the ambulance out, it pains me to say that we got used to dealing with it all ourselves, feeling we were wasting peoples time, our own included, each time we went in to hospital and had to stay for hours and hours of observations, always ending (thankfully) with Emily bouncing back to her usual happy little self. I have to say although we’ve got “comfortable” managing Emily’s seizure’s ourselves, there is always a thought lurking of is this going to be that fatal one that we all fear most, is the fact that we don’t call an ambulance anymore going to become a gut-wrenching regret.. But you push the thought away and try to carry on. We were set appointments for a variety of different investigative tests including an MRI, EEG, and metabolic tests, it all took so long, and needed constant chasing and pushing the system to get to the outcome of nothing of significance. It was honestly so disappointing, we just knew something wasn’t right. Developmentally we knew Emily was behind, having met and been assessed by various paediatric professionals, we had ongoing discussions with nursery, then pre-school staff on the extra support Emily required, so we kept pushing for answers in the hope we could gain a better understanding of how we can best support her moving forwards. In Nov 2019 we were put forward for the 100 Genome Project which carried out whole genome sequencing (WGS) which looks at all your genetic material all at the same time to look for changes in genes that can cause health problems. Emily, Oli and I had our blood tests done and were told it’d be a 3-4 month wait for the results. It ended up being early March that we were sent a letter from the John Radcliffe Hospital where we’d been for our genetic testing with the following question: Do you think Emily presents with symptoms of BPAN? No “dear parents”, no “following on from your recent tests” just that question - I recall opening the letter on my own thinking what on earth is BPAN, of course you go straight to Google to look it up and I cannot portray the devastation that engulfed me, the absolute terror of seeing words like life-limiting, neurodegenerative, no cure, painful muscle spasms, Parkinsonism, Altzheimers, early death… Needless to say I was floored, I somehow found myself in Oli’s arms incoherent and trying to explain why I was so upset, I ended up just passing over the letter, which he swiftly did exactly what I had done and looked it up.. I think the only way to describe what we were feeling was shocked and in disbelief. We managed to get a call arranged with Emily’s Neurologist and Epilepsy paediatrician that same day, on that call they explained that they didn’t believe Emily had BPAN, that the chance was so miniscule that it wasn’t going to turn out that way for her, that we needed to wait for the genetic results to be 100% sure but it was their belief that it wouldn’t turn out to be BPAN - the odds were on our side. We also had an explanation of why we had received the letter in the way that we had - apparently one of the secretaries should have ticked a box in the system which wouldn’t of copied the letter to parents, the letter was only ever meant to go to Emily’s Neurologist - thinking back to the time between then and the day it was confirmed that Emily had BPAN, is a complete blur, I honestly have no idea how we carried on with day to day life, we were most definitely in survival mode AND managing all that the Covid-19 lockdowns had to offer at the same time. 3 months after receiving that letter we were asked to attend an online meeting with a paediatric Neurologist called Professor Manju Kurian at Great Ormond Street hospital (GOSH), she wanted to meet Emily via video call and do an assessment, we spent a couple of hours talking about all things Emily - developmental delays, seizure types and frequency, Emily’s little quirks like pointing with her middle finger and repeatedly patting her mouth with her hand, we gave so much detail, often laughing whilst recalling how unique our girl is. It felt good to be listened to, it felt like we were moving forwards towards potential answers which at this point we were desperate for. Professor Kurian explained they’d be in touch with next steps soon, and it was only a couple more weeks that Emily and one parent (Covid rules) were invited physically into GOSH - 06/07/2020 a date as etched into our memories as Maxi & Emily’s birthdays. Diagnosis day. Maxi was with our lovely friends the Mordt’s whilst Oli, Emily and I drove into London, the plan being Emily and I to attend the appointment whilst Oli waited in the car, on the way there I got a third call from GOSH to check that only 1 parent was going to enter the building, once again I said yes we knew that and only my daughter and I will enter. There were no other words to be said on the journey, I can honestly say the dread and anticipation built with every passing minute. I feel sick now just thinking back. Oli dropped us at the entrance and I tried and failed to put a mask on Emily, whilst she was trying to grab at mine, not understanding at all why I had this thing covering my mouth. We walked through the security area, found the lifts and where we needed to go, signed in and waited to be called in, it took less than a minute for Professor Kurian to call us into her room, as we entered she asked where Dad was, I said we’d had three calls saying he wasn’t allowed in, she asked if he was nearby so I said yes just in the car park, so she then said call him to come in, he should be hare, it was this precise moment that my mind went in to freefall as I knew what was coming, I knew it was BPAN, I somehow made the call, I somehow managed to make sure Emily wasn’t grabbing equipment or doing something she shouldn’t, I was numb, waiting for Oli to arrive was only a few minutes and then we were there together, Emily sat on Oli’s lap. Professor Kurian looked up from her notes on her lap with a sympathetic gaze, both knowing what she was about to say, our greatest fears confirmed out loud. Our hearts literally broke right there and then, it’s indescribable the pain you feel when you’re told your 4 year old daughter has a rare, life-limiting, neurodegenerative disease that has no cure. Through our tears our questions centred around when does the devestating degeneration phase start, when does Emily start to loose her skills, the skills we and so many others in her life have been working so hard to teach her, Professor Kurian explained typically in adolescence (10-19), but it can happen earlier or later. We were quiet, depleted and ready to get out of there, both Oli and I were in our own heads driving back in a very fitting wet, grey & silent journey home whilst Emily napped. We were in a state of shock and disbelief, in that moment everything had changed but Emily hadn’t - she was the same right in front of us. Countless people have said to us “we don’t know how you do it” and obviously there is no choice, however focusing in on Emily and seeing her pure love and joy for life has always kept us going, the same goes for Maxi who we need to protect through this difficult path, they both have an amazing ability to keep your feet on the ground moving forwards, focusing on what’s really important. For me, I knew I had to keep active to keep sane so I found solace in running and given that fundraising for a cure was without question something we needed to do, I started a JustGiving campaign with the commitment that I would run 30km a week and volunteer 1 day a week to charitable causes. Giving back was incredibly rewarding, I helped in a special needs preschool playing with the kids and chatting and making tea for the mums, and I was a Covid volunteer helping on vaccinations sites, making friendly calls to elderly isolated people and running errands. As people learnt about Emily’s diagnosis, they wanted to do anything and everything to help us raise funds. We truly have the absolute BEST network of family, friends & colleagues who did bake sales, completed multiple triathlons, organised swimathons and climbed mountains for Emily!! We are so fortunate to have so many insanely brilliant humans close to us and willing to help #forevergrateful We agreed with GOSH Charity that the funds we were raising via JustGiving would be ring-fenced for BPAN research (though still needing to go through due-process and approvals) by mid 2022 we reached £100,000. This then meant that Professor Kurian was able to go through the GOSH Charity grant call, and apply for a further £150,000 based on her BPAN Gene Therapy proposal that was up against 1000’s of other proposals. Incredibly this resulted in a 3 year project which started in May 2023 and will run until 31st May 2027. To every single person that has supported us, I want to say another HUGE thank you, it truly means everything to us. For more details on the project press here... Oli and I had always discussed creating a charity for Emily, to formalize the efforts of raising more funds towards finding a cure, but life was already bursting at the seams with work, school hopping, seizures, constant doctor and therapy appointments, advocating for Emily’s needs to be met, feeling eternally exhausted due to co-sleeping with Emily who is a very very early bird! It felt like there wasn’t space for it, until Emily’s seizures stopped with a new medication - and lovely Nicole finally convinced me there was never going to be a good time, our lives are always going to be hard, but together we can support each other and just crack on! I love Nicole’s unwavering motivation and together with my firm belief that we absolutely can cure BPAN, we make a great team to run Action for BPAN, the UK’s first charity focused fully on improving the lives of those affected by this awful disorder. Read More 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. Developing gene therapy for a rare neurodegenerative condition called Beta-propeller Protein-associated Neurodegeneration. Project Leader: Prof. Manju Kurian Start Date: 1st June 2024 End Date: 31st May 2027 INTRODUCTION Professor Manju Kurian of UCL Great Ormond Street Institute of Child Health is developing a gene therapy for children with BPAN. Her hope is that this will ultimately lead to a safe and effective new treatment that can help slow disease progression - transforming the lives of children born with this debilitating condition. WHY BPAN is a rare genetic condition that progressively damages the nervous system, leading to a range of distressing symptoms that gradually worsen over time. A child born with BPAN typically experiences early-life seizures (epilepsy), learning difficulties and delayed development, speech problems and movement issues affecting walking and everyday activities. In late adolescence or early adulthood, intellectual decline begins, leading to dementia, along with worsening movement problems such as involuntary contractions and tremors. There is no cure, and children's lives will often be cut short. New treatments are desperately needed that can slow down or stop the disease's progression. HOW BPAN is caused by a faulty gene, called WDR45, which usually produces a protein that plays an important role in removing waste material from cells. Without this protein, toxic substances build up in nerve cells, leading to damage and cell death. Researchers aim to develop a new treatment using a harmless virus to deliver a healthy copy of the WDR45 gene directly into the brain. To test this gene therapy's safety and effectiveness, they will create two lab models: Firstly, they will generate 'mini-brains grown from reprogrammed patient skin cells. Secondly, they will use a mouse model with similar features to the human disease. Successful results could lead to future clinical trials in children with BPAN. IMPACT If successful, this could lead to a new treatment for BPAN that can halt disease progression, increase life expectancy and provide a better quality of life for children and their families affected by this devastating condition. We will post updates on the project across our socials as soon as possible.

Discover creative ways to fundraise for Action for BPAN in your workplace. Explore fun initiatives and ideas that support our mission to fund research and give families affected by BPAN hope. Fundraise at Work Fundraising at work is a great way to connect with your team/colleagues, build camaraderie, and create impactful change! With creativity and enthusiasm, you can make it fun and inspiring. Take the first step - plan your event today! Take Some Inspiration! Set up Your Fundraising Page Be sure to register your fundraising with us at the bottom of this page and share your story across social media along with plenty of photos to make your page truly stand out! To make organising your sponsorship simple and effective, we recommend using an online fundraising platform like JustGiving . Not only does it streamline the donation process, but it also allows us to claim Gift Aid - an additional 25% on eligible donations from UK taxpayers. This means that a £10 donation could be worth £12.50 at no extra cost to the donor! You can easily share your fundraising page with a JustGiving link or QR code to encourage even more people to support your efforts. If you need any support with any of this please just ask us, we are here to help. Coffee and Cake Break Take a break from work with a classic coffee morning! Set a date, spread the word and get baking. you can even choose a theme, or make it a bake-off competition? Matched giving Not only will this significantly boost your total, helping you hit your target, but it will also double the impact of your efforts for Action for BPAN. It’s a win-win and your employer will share in the satisfaction of making a real difference. Dress up/Down Day Why not mix things up and ask your colleagues for a donation while dressing down, dressing as your teenage self or don fancy dress? You could also get creative and plan other fundraising activities to increase your total on the same day. Any ideas? Physical Challenges Gather your colleagues and organize a sponsored physical challenge for a BPAN. From a sponsored walk to more daring adventures like mountain climbing, you'll not only raise essential funds for Action For BPAN but also strengthen your team's bond. Lunch Time or After Work Quiz Looking for a fun and competitive way to raise money for charity? Look further than hosting a quiz! Whether virtual or in person, Get ready for a social and entertaining event that's sure to make a difference! Raffle Off A Duvet Day Raffle off the chance to win an extra day’s holiday! this is an office fundraising idea that's sure to pique your colleague’s’ interest Book Sale Ask your colleagues to donate their old books and organize to office book sale! as a simple and cost-effective way to fundraise and find your next good read! Office Baby Photo Competition Ask your colleagues to bring in a photo of themselves as a baby, then charge colleagues to guess who’s who. You could even give a prize to more exciting! Sweepstake Whether it’s the Grand National, Football, Wimbledon, Eurovision or the next series of Strictly, charge £2 per name and split the prize pot with the winner and Action For BPAN. See guidance for sweepstakes here Give Something up For BPAN Old-school fundraisers can be the most effective! Consider challenging your colleagues to give up things they usually cant go without for a day, a week, or month, such as chocolate, social media, or post-work drinks. Office Olympics Who will take the gold in speed typing, synchronised chair swivel or paper aeroplane throwing? There’s plenty of fun game ideas to showcase your office Olympics prowess with the added bonus of fundraising for charity! Give as you earn Lots of companies offer fantastic payroll-giving schemes to enable employees to give to their chosen charity tax free directly from their salaries. Consider signing up and encourage colleagues to do the same. It will make an enormous difference to Action for BPAN! How Your Efforts Can Help Your fundraising will play a crucial role in helping Action for BPAN fund a cure or treatment for BPAN. By organising events in the workplace, employees can come together to raise awareness and funds for this devastating and underfunded disorder that takes so much from so many families. With Action for BPAN's funding and support to dedicated individuals and organisations, we want to ensure the vital research crosses the finish line and improves the lives of those affected BPAN. Contact Us Are you ready to make a difference and raise funds for Action For BPAN? We're thrilled to help you on your fundraising journey! Our team is passionate about supporting you so please get in touch to register your fundraising and let's make your fundraising idea a reality! Select the option 'Fundraising' to talk to us about your idea or query! 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

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. Engage@actionforbpan.co.uk 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.

Meet the BPAN community: families share personal stories, the challenges and joys, giving a window into their children's lives 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 Meet Daisy and Rebecca Daisy and Rebecca are years old Daisy and Rebecca Like Daisy and Rebecca Dislike A Bit About Daisy and Rebecca We were tested in 1999 and genetics came back as normal and again in 2011, so we went on the Diagnosing developmental Disorders study and this was when the WDR45 gene mutation on the X chromosome was discovered. The girls were 16 when we received the BPAN diagnosis. The twins were born at 38 weeks after 13 hrs of unsuccessful labour by C-section as Daisy wasn't in a hurry! Therefore Becky was born first by 1 min as she was behind Daisy. All seemed fine and they progressed nicely. Rebecca was slightly behind with her milestones but nothing to be worried about said the health visitor as twins were often slower to progress. At 8 months they were being weaned and had very bad constipation, which led to the paediatrician, who gave medicines and a follow-up appointment. We were seen again at 13m, where I asked about Daisy's walking as she had for some time been travelling around the furniture only one way with right leg leading and wouldn't attempt a gap. This is when I was told they were both very hypotonic and told to go and buy supportive boots to support Daisy's ankles. She walked independently immediately. We were then sent down the usual route of testing, but everything came back normal. Fortunately we had an excellent paediatrician who put lots of things in place very quickly, so by 18 months the girls had a physiotherapist, occupational therapist and a teacher who home schooled for an hour a week! At 2 yrs old they attended a special needs nursery part-time and then at 4 transferred to a full-time placement at Broad Meadow Nursery where they stayed until 6 when they moved to Tettenhall Wood Special School where they stayed until19.5yrs. Daisy first as her history is much simpler! She walked at 15 months and learned to crawl afterwards. She babbled but just with ddddd and was able to scream very well, for most of her communication needs!!!!! She was into everything and could empty drawers, cupboards and wardrobes much faster than I could tidy them!!! She was a runner too and needed to be watched all the time!!! She would also be very happy to go off with any stranger who she liked the look of, or who had food! I was certainly kept on my toes!!! As soon as she went into a bed at 3yrs she was able to get mum up about 7 times a night on average, although she was no trouble and just seemed to need the reassurance that we were there and put back to bed. She still needs help to get into bed even now, but fortunately the "get ups "have stopped since we started her on CBD oil. She had help to walk with orthotic boots and inserts, but progressed to not needing any help. She has a global delay in all areas and severe learning disability. She has progressed nicely with words and probably has 50 in her vocabulary and has understanding within familiar situations. She can make her needs and wants known but needs assistance in most things. She used to use park equipment and liked climbing but has got physically more cautious as she got older. Both girls have sensory integration difficulties, being over sensitive with their hair but insensitive with legs and feet. As she's got older she has very cold hands and feet, as has Rebecca. Daisy also has perceptual difficulties, and does not see changes of level. Daisy is also on the autistic spectrum. She is continent, but needs full assistance with personal care. She feeds herself well but cannot use a knife. Daisy calmed down dramatically as she reached puberty and started sleeping through the night more and is now quite lethargic, she used to come home from school, have a nap and stayed on the sofa for most of the evening like a real teenager! Until puberty the twins had always maintained the same weight and height. Daisy is now10st and Rebecca 8st. Both girls are very fit and healthy and have good appetites and will eat most things. They are both TV addicts but even now have their faves that they watch over and over......(Tweenies, Hi 5 , Rosie and Jim, teletubbies, Tots TV, Fun song factory, The Wiggles, ,Tumble tots, singing hands)Daisy knows all these word for word and often did the actions too. Dasy does not take any medication at present, does not wear glasses and has recently been diagnosed with polycystic ovaries.Daisy is a very happy kind caring and loving girl who loves to help and feel useful. She puts Rebecca's needs before her own and is a daily delight! She makes us all feel so loved and makes us smile or laugh all the time - she's an absolute treasure and we love her dearly, as anyone who knows her does. We are so lucky to have her and feel very honoured to have her in our family. Right, I'll start Rebecca's story now! Rebecca was a very calm, contented toddler and child who was happy with whatever she was given and did not seem motivated to move. She loved books and would sit for hours turning pages and vocalising. She also had Daisy's communication scream and could vocalise lots of letters, but when she communicated with Daisy just used dddddd like she did. She began travelling around furniture and pushing wheeled toys at 4 and like Daisy did not crawl. She took a few independent steps but was stiff legged and nervous. She developed epilepsy at 3ish which started as little "hiccups" but over a few years worsened to big myoclonic jerks that exhausted her and seemed to be worse with tiredness - so a cycle of epilepsy seemed to take over Rebecca and she seemed constantly exhausted. We tried several anti convulsant to no avail, and as anyone knows who has gone through this, each drug has to be gradually increased, tried ,then weaned off, if it doesn't have any effect so the end result is the fits continue taking their toll on the victim - its heart-breaking to see. Then a chance conversation with our pediatrician became a miracle. We were discussing the ketogenic diet as Rebecca's fits seemed better if she had a tummy bug and didn't eat. I didn't want to subject her to the diet and said it was a shame they couldn't invent a drug that would mimic the diets effects and she said there was a possibility with a drug called Acetazolomide so I asked if we could try and within 3 days she was fit free and my lovely daughter came back !!!!! She continued the low dose of Epilim she was on previously and has been fit free ( bar 2 incidences when we tried to lower med doses) for 10 years. We did conductive education for many years firstly at Penn Hall School then at Megan Baker House which helped Rebecca's mobility no end and at 11 she learned to crawl, her first independent movement ! She loves the freedom! Oh and I forgot to say that both girls swam at school, Daisy has her 50 metre badge and Rebecca her 20 metre badge. They also both been horse-riding with Riding for the Disabled for 10 years and went Disabled bike riding weekly for 10 years too. As Rebecca grew her walking gait became more flexed and pronated and she has needed increasing help from orthotics to keep her upright. She leans forward and holds on to an adults hands but still manages to get about the house without her wheelchair. She even pulls herself up the stairs with an adult steadying her from behind. She wears GROs up to the knee and also has full length callipers which she loves to walk in. These give her a really good posture. She did wear a back brace for a back scoliosis which at present is at 52 degrees. Oh both girls have a weird curled over second toe! Rebecca had a Mulholland walker which she used at lunchtime at school and a Mediotech balance trainer at home which she spends an hour a day in - also a fave activity!!! Oh and she has contracture correction devices for her legs which she sits in at home for an hour, as well as a stretching programme carried out daily between school and home!!!! ( think that's why she is lighter than Daisy- she's never still - and that's the way she likes it! )other Rebecca stuff! .......She is non verbal but certainly not non vocal!!! She is very good at getting her wants and needs met by vocalising , eye pointing, reaching or choosing. She is such a good manager that we all realise we are doing just what she wants ! In fact Daisy's good at that too!! (Daisy has us all on her autistic timetable so the boat isn't rocked!!!!!) Rebecca occasionally still does "hand regard" she's a teeth grinder( yes I know!!!!) very sensory- likes massage and a foot spa, has a high pain threshold, wears glasses for short sight and astigmatism, is continent, needs full help with all aspects of personal care dressing feeding etc. She gives great eye contact. She has had uncontrolled jerks in her left hand for a couple of years, which seem to be getting worse. She sleeps in a Symmetrisleep to help her back and hip which was slightly out of socket. She has 4 impacted wisdom and 1 canine - we have a saying in our house that if its going to happen it usually happens to Rebecca poor soul! Rebecca is such a strong resilient young lady that is full of fun, mischief and so so happy. She is strong willed, has a great sense of humour and is a lesson to us all. We are so lucky to have her and every day we are thankful that she has come into our family. We love her so much! The girls are now 27 years old so a quick update may be required! Rebecca has remained pretty stable, still on the same meds. Over the years she has become very gradually less physically active and fidgety, but still uses her contracture correction devices, KAFOS and balance trainer daily along with a stretching program. She now uses a grillo walker at day ops. At 25 years old she has learned to say mum and now says wee when sat on the toilet! After leaving school both girls went to a specialist college in Shrewsbury.....Condover college as day students for 3 years. Unfortunately their last year was cut short by Covid 19 lockdown but they now attend the college day opportunities program for 4 days per week which they love. This gives them continued access to physio, hydro, and speech therapy which is fantastic! For Daisy the big change has been the onset of epilepsy 😔 She has focal seizures which present as a series of very short absences and slight right arm jerk. Her medication consists of Acetazolomide, cenobamate and lamotrigine to control her seizures, which has been effective. She also developed high anxiety and would get very stressed, hit her head and scream. We have her on a low dose of sertraline which has been very beneficial. I think Daisy has shown some regression in her walking stability and is now even more clumsy and sometimes her right leg gives way and sets her off balance so our physio has developed a daily program to help with balance and muscle strength. Shared by Lyndsey, Daisy and Rebecca's Mum 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

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