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

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

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

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

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

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