If we don’t learn how to talk about and process grief it could majorly impact our health and well-being. I understand that talking about grief isn’t comfortable for everyone. Many people may skip over this article with a strong ‘NOPE!’ response. However, the truth is that everyone will sadly face loss one day. There is no perfect grief guide for when this day comes, but there is information that can help people understand how to navigate grief, know what to expect and learn how to cope the best they can. That G word. With almost any loss comes grief. It’s a completely natural and necessary part of life. It can be defined as a strong yearning for what or who we have lost. Unfortunately, the Niemann-Pick community aren’t strangers to grief. We grieve the lives of our kids, friends or family members – either the life they had or the life we thought they were going to have before the diagnosis. Research suggests there aren't natural stages of grief, so everyone will vary in how they process this challenging state. There will be days that the feelings subside, and other days they come back in full swing. Some people describe it as waves of emotions that come unexpectedly or in response to reminders of the loss. Despair, anxiety, anger, guilt, depression, and loss of enjoyment in normally joyful activities are just some of the common grief experiences. Initially, we may also lose our appetite which is normally just a short-term response to stress. Overall, people can learn to cope more effectively with grief over time. Science suggests that with good management strategies, people will eventually adjust better to living with their loss. Strategies might involve connecting with friends and family, trying to sleep well, exercising and eating healthy where possible. Talking to a psychologist or writing about your grief in a journal can also be beneficial. Coping with grief is not about letting go. It’s about learning how to move forward with them keeping you company in your heart and memories. Where it can get more challenging: complicated vs uncomplicated grief Uncomplicated grief is when someone can transition through their grief and adjust to their new situation over time. Signs of this could be returning to old hobbies and a normal appetite. On the other hand, complicated grief (also known as incomplete grief, occurring in about 10% of grieving individuals) is when someone can’t move forward over time. These individuals remain severely distressed and may continue to have intense emotions such as anger and bitterness or experience an extreme fear of loss. Physical health may also be affected, such as appetite not returning to normal or continual sleep loss. There are various reasons why complicated grief may occur. Maybe the feeling was suppressed as it was too overwhelming, or you didn’t have time to feel it as you had to race to organise funerals and make other arrangements. Don’t lose hope. If this feels like something you are experiencing, there is help. There are multiple ways to address complicated grief. Using targeted therapies with a psychologist or grief support counsellor is just one option. Beyond Blue is also a great resource if you need immediate and anonymous support. See list at the bottom of this article for more support services and resources. I understand that grief is overwhelming, messy, tear-filled and intense but it’s also necessary for us to come to terms with our loss. Coping with grief is not about forgetting or 'getting over it'. Coping allows us to resume living our lives the best we can whilst still loving who or what we have lost. If you are currently experiencing loss, you are not alone. Don’t forget that the ANPDF community is here to provide peer support where possible. Stay supportive and supported, Ellie There are support services and information you may find helpful. The following links will take you away from our website: Beyond Blue provides confidential counselling services 24 hours a day, 7 days a week. Griefline provides telephone and online counselling services. Head to Health is a digital mental health gateway for online and phone mental health services. Lifeline is a national charity open to all Australians in personal crisis. They have 24 hour crisis support and suicide prevention services. You can also contact a counsellor. MensLine Australia provides confidential counselling services 24 hours a day, 7 days a week. Red nose grief and loss provides online and telephone services to support parents and their families after the death of a child SANDS provides support for bereaved parents following pregnancy loss from miscarriage, stillbirth and newborn death. Solace Australia provides support for people who have lost their partner. The Compassionate Friends Australia - provides friendship and understanding to support bereaved parents, siblings and grandparents after the death of a child of any age. Support Services Australia also offers financial help. You can also contact a counsellor through organisations such as: community health centres the National Association for Loss and Grief.

Raised $1,524.79 Event Details Date/Time: 21st April 2024 Location: Elysium Hill Farm, Upper Plenty VIC Organiser: Empire Blueprint #fundraiser #familyfunday #ElysiumHill #homesteading #farmstay #glamping A Day of Delight: Activities and Attractions On the 21st of April 2024, Elysium Hill's rolling fields and charming farmstead played host to a Family Fun Day that not only brought smiles to the faces of attendees but also made a meaningful impact in the fight against NPC disease. This special event, organised with love and dedication, aimed to raise funds for the Australian NPC Disease Foundation (ANPDF), shining a light on a cause close to the hearts of many. Attendees were treated to a day filled with an abundance of activities and attractions, all set against the backdrop of Elysium Hill's picturesque landscape. From sack racing to giant Jenga, hay bale climbing to meeting farm animals like Emma the Maremma, the atmosphere was brimming with joy and laughter as families reveled in each moment spent together. One attendee, @rainers_do_oz, captured the essence of the day in their Instagram post, describing Elysium Hill as a "dreamy, gorgeous property" and highlighting the myriad of delights on offer, from the traditional fun of sack races to the modern beats of a DJ and the allure of artisanal coffees. Supporting a Worthy Cause: Fundraising for ANPDF However, amidst the festivities, the true heart of the event lay in its fundraising efforts. Generous contributions poured in from various sources, including merchandise sales, donated handmade goods, stall donations, sales from the sausage sizzle, and proceeds from a raffle. Together, these efforts culminated in an impressive total of $1,524.79 raised for the ANPDF. This will play a vital role in supporting research, raising awareness, and providing assistance to individuals and families affected by NPC disease. The collective generosity and community spirit displayed at Elysium Hill's Family Fun Day serve as a testament to the power of coming together for a local cause. Gratitude in Action: Thanking Our Venue Partner and Volunteers We owe a heartfelt expression of gratitude to our esteemed venue partner, Elysium Hill. Their unwavering support and generosity provided the perfect backdrop, playing an integral role in the success of our fundraising efforts. Elysium Hill's enchanting setting and warm hospitality fostered an atmosphere where families could come together, forging cherished memories while contributing to a worthy cause. We extend our sincerest thanks to the entire Elysium Hill team for their dedication, enthusiasm, and commitment to making our event truly unforgettable. Your partnership exemplifies the spirit of community and compassion, and we are immensely grateful for the opportunity to collaborate with such an exceptional venue. A big thank you goes out to Uncle Bob's Club for lending us the sausage trailer. Your support was instrumental in making our event a resounding success. We deeply appreciate your generosity! Lastly, we extend our gratitude to our incredible volunteers whose dedication and hard work made our Family Fun Day a tremendous success. Your selfless efforts ensured everything ran smoothly, creating a vibrant and welcoming atmosphere for all attendees. We are profoundly grateful for your generosity and commitment to our cause. Thank you for making a meaningful difference! Reflections and Future Endeavors: The Impact of Elysium Hill's Family Fun Day As the sun set on this memorable day, the legacy of compassion and support forged at Elysium Hill will continue to resonate, inspiring hope and fostering a sense of unity within the community. With heartfelt gratitude to all who participated, the spirit of yesterday's celebration will live on, guiding us as we strive to make a positive difference in the lives of those in need. Discover Elysium Hill Rooted in Tradition, Nurtured by Family Book your experience or event where nature's beauty awaits at every turn! ☎ 0474 316 923 ✉ elysium@elysiumhill.com 💻 elysiumhill.com 📍 2316 Epping Kilmore Road, Upper Plenty VIC 3756

Zevra Therapeutics Presents New Data On The Long-Term Safety And Efficacy Of Arimoclomol As A Treatment For Niemann-Pick Disease Type C At The SIMD 45th Annual Meeting Read the full statement from Zevra Therapeutics here: Here is a summary of the article: Clinical Benefits: The data from the Expanded Access Program showed a consistent safety profile and a clinically meaningful slowing of disease progression in adults with NPC. Regulatory Progress: The FDA has accepted the resubmission of the NDA for Arimoclomol with a PDUFA date set for September 21, 20242. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

Sometimes you never realise what you have until it’s gone. The ability to walk, talk, or even eat. Most days we take these things for granted. But if you start to lose these abilities, you soon realise how lucky you are to have a body and mind that works. For people living with NP-C, everyday tasks like eating can become more and more complicated. This is where interventions like a PEG can enter the picture. PEG feeding is important to wrap your head around because it’s something most people with NP-C will eventually face. So, what is PEG? It’s essentially a feeding tube that can move food directly into the stomach. PEG stands for the term Percutaneous Endoscopic Gastrostomy (like most medical terms, it’s a bit of a mouthful). The tube itself is either called a gastrostomy tube or a feeding tube. Why is it useful? PEG is an option for people who have problems swallowing. In NP-C, when brain cells that control muscle movement die, it can impact the ability to swallow (swallowing difficulties are also known as dysphagia). There is also the added complication of having food go down the “wrong way”. Meaning, instead of food going down the oesophagus and into the stomach, it goes into your airways and lungs (this is also known as ‘pulmonary aspiration’, or just ‘aspiration’). Not fun. The person may try to cough up the food or liquid, but this is not always effective and if it gets stuck in their lungs, it can lead to pneumonia. Sadly, respiratory failure is the most common reason people diagnosed with Niemann-Pick disease pass away. Therefore, a PEG is an intervention that could be used to reduce the risk of aspiration and potential pneumonia. But it’s not a choice easily made. It involves accepting that the disease has progressed to a severe level, and a willingness to make the necessary changes. In a way, it limits a person’s freedom. Limiting food consumption can impact social interactions and make it hard to be in environments where others may be eating. There is also the surgical risk to consider. The surgery to get the port inserted into the stomach can be risky, but should only take around 30 minutes under anaesthetic. The person needs to be physically strong enough to undergo anaesthetic without fear of major complications. Having a PEG does come with the risk of certain complications, so support staff and carers will also need to be properly trained on how to clean and use the equipment. Due to some of these reasons, when someone living with NP-C is considering PEG feeding, it’s usually a last resort option. On a brighter note, a PEG may improve nutritional status and quality of life. Once the tube is in, dietitians prescribe special food that provides the person with reliable nutritional support. Some research studies even found that people improved their overall nutritional status after they had a PEG put in. An improved quality of life was also recorded in some research papers. Beyond making accommodations for feeding times, this intervention is unlikely to prevent someone from doing what they enjoy outside of eating food - like going to see a band, watching a movie with a friend, or going to a garden. In the end, a decision to insert a PEG is a personal one. However, I encourage you to start thinking about what this might mean for you and your family. As always, please consult your health professionals with any questions you may have. Stay supportive and supported, Ellie

IntraBio Announces U.S. FDA Accepts New Drug Application for IB1001 for the Treatment of Niemann-Pick disease type C Read the full announcement from IntraBio here: IntraBio has announced that the U.S. FDA has accepted its New Drug Application (NDA) for IB1001 for the treatment of Niemann-Pick disease Type C (NPC). The NDA for IB1001 has been granted Priority Review with a PDUFA target action date set for September 24, 2024. The application is based on positive results from the IB1001-301 Phase 3 Pivotal Trial, which demonstrated improvement in neurological signs and symptoms, functioning, and quality of life in adult and pediatric patients with NPC. The NDA also includes data from a multinational Phase IIb trial showing improvements in symptoms and quality of life in NPC patients. If approved, IB1001 is expected to address the high unmet medical need for NPC patients. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

There is a big misconception that the point of exercise is to lose weight. This is only one of many benefits exercises can have for our body and mind! In this post, I want to follow past ANPDF NP-C conference speakers who argue that exercise is medicine. Exercise is defined as the repetitive, structured, or planned movement for health benefits. It can include lots of different types of movements and doesn’t have to be confined to a gym. Source: Pexels vis Ketut Subiyanto It can also be used as a form of active therapy. In fact, it is one of the primary therapies used to manage NP-C symptoms and could potentially help slow down the progression of the condition. The evidence for these benefits is hard to measure in groups of NP-C patients due to the small number of people diagnosed. Instead, we have seen many benefits when researching dementia or Parkinson’s disease. For example, a study of people living with Parkinson's Disease found that exercise helped to delay the onset of symptoms and slow the progression of the disease. Studies also show that being active can improve cognitive symptoms (dementia), stimulate the growth of new brain cells, and improve mental health and physical strength. It is important not to think of exercise as a cure for NP-C, but instead to see it as a way to improve and extend that person’s quality of life & ability to function. It can also be widely beneficial for carers of people living with dementia, as research found it to reduce perceived caregiver burden and improve mental wellbeing. But what exercise to do? NDIS funding can be used to see health professionals such as exercise physiologists (exercise specialists who can use active therapy to treat various health conditions) or personal trainers. These health professionals can create and tailor a program to the person living with NP-C. Everyone can do something, and the right professional will make a program that suits the person to maximise their physical health. This may include a combination of aerobic, strength, mobility and balance and/or coordination training. It is about making the most of what the person has, rather than focusing on what they don’t. Source: Pexels by Kampus Production And it can be fun! For example, the fantastic Victorian Dance for Parkinson’s & Wellbeing group invites everyone to come and use dance as a form of active therapy. People of all abilities can utilise exercise for its benefits, you just need to find the type that suits you or them the best! This message is important to share as everyone has the right to be physically functioning to the best of their ability. Now, I'm off for a walk! Stay supported and supportive, Ellie

Azafaros announces completion of 12-week Phase 2 RAINBOW study evaluating lead asset nizubaglustat in rare disease patients. Read the full statement from Azafaros here: Here is a summary of the article: Study Completion: Azafaros has completed a 12-week Phase 2 clinical study, RAINBOW, evaluating nizubaglustat in patients with GM2 gangliosidosis or Niemann-Pick disease type C (NPC). Study Details: The study was randomized, double-blind, placebo-controlled, conducted in Brazil, and involved 13 patients. It aimed to determine the safety, pharmacodynamics, and pharmacokinetics of nizubaglustat. Next Steps: Patients are now entering the extension phase where all will receive the study drug. Top line results are expected in Q2 2024, with presentations to the scientific community planned for later this year. Drug Information: Nizubaglustat is a small molecule with a dual mode of action, developed for rare lysosomal storage disorders with neurological involvement. It has received several designations and support from regulatory agencies. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

By Sarah Booth (Herald Sun), March 10, 2024. Read the full article here. Melbourne, Victoria – In a significant medical breakthrough, researchers have discovered that a drug commonly used to treat vertigo may offer new hope for children suffering from Niemann-Pick type C disease (NPC), a rare genetic disorder often dubbed “childhood Alzheimer’s.” NPC is a devastating condition that leads to severe neurological decline in children, affecting their movement, speech, and cognitive abilities. The disease is caused by the accumulation of cholesterol and other lipids in the cells, leading to cell dysfunction and death. The vertigo drug, which has been on the market for years, has shown potential in early-stage research to alleviate some of the neurological symptoms associated with NPC. This discovery is particularly promising because it involves repurposing an existing medication, which could expedite the process of making it available to patients. “Within the first couple of weeks of starting the drug … we did find some really big, big improvements, which were things that people take for granted every day,” - Mum, Amanda Hodgson While the research is still in its early stages, the findings represent a significant step forward. The potential to improve the lives of children suffering from NPC and provide relief to their families is a beacon of hope. Further studies and clinical trials will be necessary to confirm the drug’s efficacy and safety for this new use. A Family’s Journey with NPC The Hodgson family from Melbourne, Victoria, knows all too well the challenges of living with NPC. Their eighteen-year-old daughter, Autumn, was diagnosed with the disease two years ago – after teachers and parents noticed changes in her speech and movement. Since then, Autumn's parents, have been tirelessly seeking treatments and participating in research studies to help manage her condition. Despite the grim prognosis, the Hodgsons remain hopeful and proactive, applying for experimental treatments and raising awareness about NPC Research. Their journey highlights the urgent need for effective treatments and the profound impact such a breakthrough could have on families like theirs. This breakthrough offers a promising new avenue for NPC treatment, and as researchers continue to explore the possibilities, there is renewed hope for those affected by this challenging disease. Stay tuned for more updates as this exciting research progresses. Feel free to share your thoughts or any questions you might have about this promising development in the comments below! To help families like Autumn around Australia, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

Zevra Therapeutics Provides FDA Update On The PDUFA Action Date For Arimoclomol As A Treatment For Niemann-Pick Disease Type C Read the full statement from Zevra Therapeutics here: Here is a summary of the article: Arimoclomol NDA Resubmission: Zevra resubmitted the New Drug Application (NDA) for arimoclomol, an investigational oral treatment for Niemann-Pick disease type C (NPC), a rare and fatal lysosomal storage disorder. The resubmission included additional analyses and data to support the efficacy and safety of arimoclomol. PDUFA Action Date Extension: The FDA extended the review period for the NDA and set a new Prescription Drug User Fee Act (PDUFA) action date of September 21, 20241. The FDA also confirmed its intention to hold an advisory committee meeting to discuss the resubmission. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

Meet our new and returning committee members! We are excited to introduce you to the team that will lead the Australian NPC Disease Foundation (ANPDF) in 2024/25. They were elected at our virtual Annual General Meeting, where we also discussed our future projects and goals to fight NP-C. The AGM covered various reports and discussions, including the addition of Dr. Brendon Boots and Dr. Sharmilla Kiss to the Scientific Advisory Board. Mandy's President's report highlighted key points such as patient updates, staff changes, and potential presentations to the PBAC. The AGM saw Mandy re-elected as President and Mary re-elected as Treasurer, with the creation of a new position of Assistant Treasurer, occupied by Sarah. The team also discussed a potential trial for a new drug, the status of various medical proposals and treatments, and fundraising strategies. Meet Amy (Board Secretary): Amy is a compassionate and dedicated individual who has a personal connection to Niemann-Pick disease Type C (NPC) through her daughter's diagnosis. Inspired by her daughter's strength and courage in facing the challenges of this complex health condition, Amy is committed to making a positive impact in the lives of individuals and families going through similar journeys. As the Board Secretary for the ANPDF, Amy will bring her passion and organisational skills to support the foundation's mission. Her goal is to foster collaboration, facilitate communication, and bring hope to those affected by NPC. The first General Manager of the ANPDF was also elected, Deanna Carpino, who has served in multiple Executive Committee positions over the last 5 years. She will be responsible for overseeing the operations and growth of the ANPDF in its endeavours to raise awareness and funds for research on Niemann-Pick disease type C. Executive Committee members: Mandy Whitechurch, President & Founder Mary Calcagno, Treasurer Amy Leddick, Board Secretary Andrew Carpino, Public Officer General Committee members: Sarah Mercuri, Assistant Treasurer Pip Johnston Marian Shoebridge Milva Carpino Vince Demarte Carly Heath General Manager: Deanna Carpino Scientific Advisory Board members: Ya Hui Hung, Chair Ashley Bush Caroline Hastings Felicity Munro Mark Walterfang Pip Johnston Tina Soulis Ellie Van Velsen Brendon Boots Sharmilla Kiss If you wish to #jointhefight for a cure of NP-C, find out How to Help today or subscribe to stay up to date with future opportunities.

The Childhood Dementia Initiative (CDI) has made significant progress in 2023, thanks to the dedication of its partners and supporters. The initiative has focused on driving change across the healthcare systems responsible for the treatment and care of children with dementia. Read the full report from Childhood Dementia Initiative (CDI) here: Through collaborative research and engagement with experts, CDI has built a comprehensive body of evidence to support its mission. The initiative has also prioritized the involvement of families, recognizing their invaluable insights and experiences. Furthermore, CDI has achieved growth in funding and secured commitments for various projects, demonstrating its increasing impact and influence. Looking ahead to 2024, important dates include the Childhood Dementia Autumn Gala and Childhood Dementia Day, providing opportunities for continued support and involvement. This progress reflects the ongoing commitment to improving the lives of children with dementia and their families. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

The New England Journal of Medicine has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of NPC Read the full announcement from IntraBio here: The New England Journal of Medicine (NEJM) has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC): https://www.nejm.org/doi/full/10.1056/NEJMoa2310151 (note - the article/ quick take video, are available to download / view for free if you register an account). To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.