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Raised $9,580.00 #NPCgala #raffle Winners: 1ST PRIZE WINNER K. Leddick, Ticket Number 2W6R-BJK5-PC422 (VIC) 2ND PRIZE WINNER S. Calcagno, Ticket Number 2W6R-BJK5-PC422 (VIC) 3RD PRIZE WINNER A. Mansueto, Ticket Number 2W67-C7GN-0111P (VIC) 4TH PRIZE WINNER J. Hickling, Ticket Number 2W9D-QTJF-L981T (VIC) 5TH PRIZE WINNER T. Piscitelli, Ticket Number 2W71-S8JL-CZ127 (VIC) 6TH PRIZE WINNER A. Djemil, Ticket Number 2WB3-7XD4-ZNN1R (VIC) Thank you to our sponsors! Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Cyclo Therapeutics Achieves Landmark Milestone with Completion of Enrollment of Last Patient in Phase 3 Pivotal TransportNPC™ Trial of Niemann-Pick Type C1 Read the full statement from Cyclo Therapeutics here: Here is a summary of the article: Landmark Milestone: Cyclo Therapeutics has completed enrollment for their Phase 3 TransportNPC™ trial, which is a pivotal study for treating Niemann-Pick Disease Type C1 (NPC1). Study Details: The study enrolled 104 patients globally and includes a substudy for children aged 0-3 years. It aims to evaluate the efficacy of Trappsol® Cyclo™ for systemic and neurological symptoms of NPC1. Interim Analysis: Topline data from a 48-week interim analysis is expected in the first half of 2025. If the data shows significance, the company plans to submit a New Drug Application to the FDA and a Marketing Authorization Application to the EMA. Disease Impact: NPC1 is a rare genetic disease that affects 1 in 100,000 live births, leading to cholesterol accumulation in cells and causing dysfunction in various organs. For more information about the Company’s TransportNPC™ pivotal Phase 3 study, visit www.ClinicalTrials.gov and reference identifier NCT04860960. 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.

"Call for more research into childhood dementia, a disease that kills almost as many kids as cancer" - By Gladys Serugga and Rebecca Opie (ABC News) Read the full article here. Local SA mum, Renee Staska, shared her heart-breaking story with ABC News last Friday. In the interview, she sheds some light on her experience of her three children when they were diagnosed with Niemann-Pick disease, type C. "You're not just a mum of three kids anymore — you're a mum of three terminally ill children now," Ms Staska said. Every rare diagnosis journey is unique, and we are so proud of Renee for her courage and strength is sharing what is surely one of the most trying times in any parent's life. As mentioned by Professor Christodoulou in the article, we need "improved support for families caring for children with what is really a devastating disorder." To help families like Renee 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: Join us at our Annual Charity Gala in Melbourne Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

"How do I tell my kids they won't grow up" - By Rebecca Whitefield-Baker (Adelaide Now), Sunday November 6, 2022. Read the full article here. Sharing your heart-breaking story with the world is never an easy task. With help from the Childhood Dementia Initiative, Renee continues to raise awareness for disease like Niemann-Pick disease type C that cause Childhood Dementia. "Ultimately I want a cure ... somthing that is going to help my kids and other kids - raising awareness is an important part of that," Ms Staska said. In the article, Renee shares how her family discovered the "bombshell diagnosis"of her three children and the emotional rollercoaster that followed. To help families like Renee 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: Join us at our Annual Charity Gala in Melbourne Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

"Smart thinker: Creating community while in search of a cure" - By Elli Jacobs (MiNDFOOD), Sunday March 17, 2022. Read the full article here. The article from MiNDFOOD, titled "In Search of a Cure," tells the heart-wrenching story of Mandy Whitechurch and her two sons, who were diagnosed with Niemann-Pick Type C disease (NPC), a rare and fatal genetic disorder. The narrative unfolds with Whitechurch's journey as she navigates the challenges of her sons' condition, from the initial symptoms and misdiagnoses to the eventual discovery of NPC through the help of neurologist Professor Elsdon Storey and neuropsychiatrist Professor Mark Walterfang. The article highlights the lack of a cure for NPC and the limited relief available through the FDA-approved drug miglustat, which only stabilizes certain symptoms. Despite the grim prognosis and a 10-year life expectancy for her sons, Whitechurch refuses to give up hope. She channels her despair into action by founding the Australian NPC Disease Foundation to support affected families and fund research. “The doctors handed me a 10-year life expectancy for both my sons and told me to go home and make memories, which left me feeling distraught,” says Whitechurch. “I decided I wasn’t going to take the diagnosis sitting down. I wanted to fight for my boys’ lives, to give them extra time with me, to give them hope.” Her efforts lead to significant advancements, including the introduction of a promising treatment trial in Melbourne hospitals with a spinal infusion drug called VTS-270, which showed improvement in cognitive and motor symptoms in other countries. Whitechurch's story is one of resilience and determination, as she fights for her sons' lives and works tirelessly to create a community of support and hope for those affected by NPC. To help families like Mandy's 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: Join us at our Annual Charity Gala in Melbourne Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

Many of you may know Tony Tardio as the newsreader on Melbourne’s radio station 3AW, however he also has another hat as a presenter of a radio program highlighting stories about the Italian community in English on the Italian radio network “Rete Italia.” Thanks to a connection via our Treasurer, Tony kindly invited Deanna on to his program to discuss her experience with Niemann-Pick disease as well as her role within the foundation. The following is a recording of the interview that took place on the 24th June 2024. Click on the icon below to listen to the recording or visit the website here: Podcast - Tony Tardio — Il Globo To help families like Deanna's 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: Join us at Minds in Motion in Melbourne Buy a ticket to our Luxury Travel Raffle Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

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