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When talking with rare condition families, it is common to hear that they have gone through a ‘diagnostic odyssey’. This is essentially the years-long journey that involves a loved one seeing a range of health specialists and undergoing many tests to eventually discover their rare condition diagnosis. But what if you knew what your chances were of having a child with a rare condition before your baby was born, or even conceived? With carrier screening, you can know your chances of having a child with NP-C. Carrier screening is a type of genetic test that can identify DNA changes that may increase your chance of having a child with NP-C, or a range of other inherited conditions. This knowledge may empower you to make more informed decisions regarding your family’s future. Who are carriers? NP-C is a recessive condition. This means that both copies of the NPC gene need to be affected for symptoms to develop. Carriers on the other hand, only have one affected gene copy. They carry the affected gene in their body, with the healthy copy producing enough NPC protein to keep them functioning normally. All parents of children with NP-C are carriers of the condition. Without having an affected child or getting a genetic test there is simply no way of knowing what you carry in your DNA. As children receive 50% of their DNA from each parent, it is important to know what could be passed down. 1 in 20 people was found to carry disease-causing genes for three of the most common rare genetic conditions: cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. Shockingly, 90% of carriers had no known family history. Therefore, screening all couples regardless of family history is important when planning to start or expand a family. If both individuals in a couple are carriers, there is a 1 in 4 chance of having a child with NP-C. Many studies have demonstrated the benefit of this testing for couples, and projects like Mackenzies Mission are trying to show how it could be utilised on a national scale. Guidelines recommend that testing is offered to all reproductive couples, in the hope that providing them with this knowledge will lead to more informed reproductive decision-making. These decisions are highly personal and consulting a healthcare professional such as a genetic counsellor is strongly recommended to ensure the test is right for you. If you're interested in learning more check out this fact sheet and this testing information page. Stay supportive and supported, Ellie Collins, F. S. (2010). The language of life : DNA and the revolution in personalized medicine / Francis S. Collins. Harper. Archibald et al. (2018). Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine: Official Journal of the American College of Medical Genetics and Genomics, 20(5), 513–523. https://doi.org/10.1038/gim.2017.134

The Australian NPC Disease Foundation hosted an inspiring event this year, the 2023 NPC Conference, which took place at the prestigious Florey Institute of Neuroscience and Mental Health. This conference was a significant occasion for patients, clinicians, and researchers, providing a platform to share the latest clinical and research updates on Niemann-Pick disease. The conference spanned two days, from June 1st to June 2nd, and was filled with informative sessions and heartfelt stories. It was attended by 50 people from various walks of life in the NPC community both in-person and virtually. The mornings were dedicated to keynote speakers who are at the forefront of NPC research, followed by panel discussions on upcoming clinical trials and research developments. These sessions offered insights into the progress being made in the fight against NPC and the potential treatments on the horizon. The afternoons were reserved for focused panels discussing the care and management of NPD. These discussions were particularly valuable as they included perspectives from allied organizations and individuals living with the disease, providing a holistic view of the challenges and solutions in managing NPD. The Australian NPC Disease Foundation has been instrumental in bringing attention to NPC and supporting those affected by it. Their efforts in organizing the 2023 NPC Conference have not only facilitated knowledge sharing but also fostered a sense of community among those impacted by this rare disease. As we look to the future, the outcomes of the 2023 NPC Conference will undoubtedly influence the direction of NPC research and patient care. The dedication of the Australian NPC Disease Foundation and the collective efforts of the NPC community give us hope for a future where Niemann-Pick disease is no longer a daunting diagnosis but a manageable condition. #NPConf2023 #familyfirst #conference Acknowledgments The ANPDF is grateful to their key partners and sponsors that enabled the attendance of our patients from all over Australia both in-person and virtually. Venue Partner - The Florey Institute of Neuroscience and Mental Health Major Sponsor - National Disability Conference Initiative Grant funded by the Australian Government Department of Social Services Contributors - Soroptimist International of Melbourne, Machine Screen Printers Thank you to the organising committee; Deanna Carpino, Andrew Carpino, Ya Hui Hung, Pip Johnston, Joy Lee, Mark Walterfang, and Mandy Whitechurch - for their tireless hours that were volunteered for the success of this event. Special mention to first-time ANPDF volunteer, Tailah Griffin, for her help on the day as both photographer and attendee coordinator and returning host, Felicity Munro. Thank you to all the new and returning speakers who kindly gave their time to delivering their experience and expertise to our Australian audience. Thank you to all involved.

"IntraBio Announces Positive Pivotal Trial Results of IB1001 for the Treatment of Niemann-Pick Disease Type C" Read the full article here: IB1001 showed a clinically meaningful improvement in symptoms, functioning, quality of life, and cognition in both pediatric and adult patients with NPC IB1001 was safe and well-tolerated with a favorable safety profile consistent with previous clinical and pre-clinical studies Based on these positive results, IntraBio plans to file for marketing authorization with IB1001 with the FDA and EMA 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 Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

Raised $477.27 #MothersDay #raffle Winners: 1ST PRIZE WINNER Ticket Number 52 (From Armstrong Creek, VIC) 2ND PRIZE WINNER Ticket Number 76 (From St Kilda, VIC) 3RD PRIZE WINNER Ticket Number 86 (From St Kilda, VIC) Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

When I say the word “genetics”, what comes to mind? You may already be familiar with the word “gene” or maybe “DNA” but what do these terms mean? Understanding these words may be more important than you might think. So, let us break it down. A question for you What did you inherit from your parents? Some would say that you inherited the shape of your nose, hair colour, or eye colour. Source: Alexas_Fotos via Pixabay It’s common to hear “she has her father’s nose” or “you have your mother’s blue eyes”. For me, I get comments on my bright blue eyes. My response is usually ‘thank you! It runs in the family. This is true. Some traits, such as the blue eye colour, can be passed down through families. But how does this happen? Well, the instructions for our body to function and develop are found in a biological instruction manual called DNA. It’s often presented as a twisted string shape like the image below. DNA is simply 4 letters representing chemical compounds – i.e. A T G C which when placed in specific sequences create the instructions for our body to function. We normally receive half of our DNA from our biological mother and half from our biological father. However, everyone has a slightly different sequence of letters, and that’s why we are all different. Genetics is the study of our genes, which are made up of segments of DNA. Genes code for proteins that are essential to keep our cells and body functioning normally. Proteins made by our body have many important roles. For example, they can directly impact traits such as eye colour or skin pigment. Look at the example below to see how a gene can be linked to a physical trait. In this case, the flower colour gene is linked with the purple colour of a flower. Source: Khan Academy, "Overview of Gene Expression" in "Intro to gene expression (central dogma)" So, when someone refers to your ‘genetics’ – they are talking about the genes you have. Specifically, what is the variation of a gene you carry? There are many variations of the same gene. These different variations are referred to as alleles (pronounced “ell-eels”). Everyone has two alleles. One allele you inherit from your biological mother, and one from your father. Sometimes can also be born with a new variation of a gene that is not in your family. Most variations of genes result in normal protein function, but a small change can lead to changed protein function. When protein function is affected, it can cause inherited conditions such as NP-C. To be affected by NP-C, both alleles need to have a changed protein function. If only one allele has changed function, but there is still a copy with normal protein function then the person is referred to as a carrier of NP-C. Bringing it together Whether it’s blue eyes or an inability to process cholesterol in your cells, genes play a big role in who we are and how we function. If you are interested to know more, stay tuned for future posts on this topic. In the meantime, Melbourne Genomics and Australian Genomics both have some great resources and information. Stay supportive and supported, Ellie P.S. Don't forget to read my first post to see who I am and why I started NP-C Corner.

I understand that a large portion of readers will be parents, carers, or family members of somebody with NP-C. Therefore, I don’t need to state just how emotionally, physically, and mentally draining it can be to keep up with the demands of this rare disease for everyone involved. It’s common for carers and parents to put the NP-C individual first. It doesn’t take much to understand why – a single day can be a juggling act of meds, various medical appointments, support worker shifts, and day-to-day essential tasks such as preparing vitamised meals. It can almost be compared to a full-time job. Unfortunately, it can sometimes lead to very little time for taking care of your own health. The situation for carers Research from South Australia has found that unpaid carers such as family members, were more likely to report struggling from psychological distress and described their health status as poor to fair (on a scale of poor to excellent). They were also at higher risk of chronic conditions such as high blood pressure and cholesterol. These conditions can have serious consequences if they go untreated. So, I wanted to write to you, the amazing carers of our NP-C community, and try to provide some awareness of how important your own health is. You are important too I understand that you want to be a good parent and caregiver. But please remember that the ability to provide support is limited by your own health. You can only support someone if you have the capacity to. The stress bucket model by Brabban and Turkington (2002) is a good way to visualise this idea. To begin, imagine a bucket of water. The water is the stressors of life (for example, your carer commitments or job) that flow into the bucket. Without a place to be let out, this water will fill and fill and eventually will spill out of the bucket. This is the point of burnout, compassion fatigue, and severe stress. In other words, you have no more capacity to support or manage your life as you want to. So, we need to find ways to let the water out. We need to make holes in the bucket. One hole could be spending time with friends, and another could be meditation or prayer. Finding time to exercise or be outside can also help keep your bucket from overflowing. This idea is also explained in a nice 1-minute video below. What does this mean for you? So, think about what is going into your bucket and what is helping you let the stress out. Source: ‘What to do when your ‘stress bucket’ is full – tips for dealing with worry and stress for young carers” by Carer Support Wiltshire The Mental Health UK website has a free worksheet to help you think and hopefully, take action to keep your stress level within your capacity. If you feel like you need a bit of help with this, please keep in mind that Australia has a mental health treatment program that you can utilise. This program helps cover the costs of psychological support and can be a really great way to help manage your stress bucket. It is never too late to change your situation. It doesn’t have to be major changes, but taking small steps day-to-day can make a big difference. Stay supportive and supported, Ellie Brabban, A. & Turkington, D. (2002) The Search for Meaning: detecting congruence between life events, underlying schema and psychotic symptoms. In A.P. Morrison (Ed) A Casebook of Cognitive Therapy for Psychosis (Chap 5, p59-75). New York: Brunner-Routledge

Raised $26,505.00 #NPCgala #raffle Winners: 1ST PRIZE WINNER Anonymous, Ticket Number 1910 (VIC) 2ND PRIZE WINNER M. Morrison, Ticket Number 1861 (VIC) 3RD PRIZE WINNER M. Ruggieri, Ticket Number 1810 (VIC) Thank you to our sponsors! Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Following a very productive Annual General Meeting, we welcome our new and returning committee members! Just one week prior to our major fundraising event in Melbourne, the Australian NPC Disease Foundation (ANPDF) team held our Annual General Meeting virtually via Zoom. After in-depth discussion of future projects for 2023/24 and recommitting to our goals of raising awareness, supporting families, and funding research for better treatments, the following committee team was elected; Executive Committee members: Mandy Whitechurch, President & Founder Pip Johnston, Vice-President Mary Calcagno, Treasurer Deanna Carpino, Board Secretary Andrew Carpino, Public Officer General Committee members: Marian Shoebridge Milva Carpino Ruth Gott Sarah Mercuri Vince Demarte Elisa Calcagno Carly Heath Emily Staska Scientific Advisory Board members: Ya Hui Hung, Chair Ashley Bush Caroline Hastings Felicity Munro Joy Lee Mark Walterfang Pip Johnston Tina Soulis Ellie Van Velsen 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.

20th January 2017 to 5th February 2023 The Australian NPC Community share their hearts and condolences with the Melbourne-based family of six-year-old Will. Barely a month past his 6th birthday, Will gained his angel wings on Sunday due to complications caused by Niemann-Pick disease type C. We are deeply saddened as a community to lose such a young vibrant spirit and share deepest sympathies to his family. #niemannpickC #gonetoosoon #inlovingmemory 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 Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

"IntraBio Ltd. is pleased to confirm that it has completed recruitment for its Pivotal Trial, Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study (IB1001-301 - NCT05163288)." Read the full article here: 70+ NPC patients were screened across 13 trial sites in Australia, Europe, United Kingdom and United States. The trial was able to be over-enrolled by approximately 130% and the data-read is expected out in June 2023. Multiple Australian patients were recruited and will have their first screening visit this month! 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: 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.

"Azafaros Receives FDA's IND Clearance and Fast Track Designation for Lead Asset AZ-3102" Read the press release from January 5, 2023 here: Read the press release from January 9, 2023 here: Received Investigational New Drug (IND) clearance from the FDA to conduct a clinical Phase 2 trial for its lead asset, AZ-3102, for the treatment of GM2 and Niemann-Pick disease type C (NP-C). Azafaros’s RAINBOW Phase 2 trial is a multinational, double-blind, placebo-controlled, parallel-group trial investigating the safety, tolerability, and pharmacokinetics of a once-daily oral administration of AZ-3102 for 12 weeks in GM2 and NP-C patients between 12 and 20 years of age. Professor Marc C. Patterson is the principal investigator for the U.S. part of the study. 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: 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.

Join the sweet side of holiday cheer with these recipes! Some of our NPC Warriors are able to take a treatment to help delay the onset of symptoms caused by Niemann-Pick type C. However, to manage the digestive side affects caused by this medicine, they maintain a diet that restricts their intake of disaccharides (double sugars) including sucrose, lactose, and maltose. Thanks to new sugar-free brands emerging in Australia, low-disaccharide snacks are becoming more readily available. Yet, if you are looking for some home-made fun, here are some of our favourite sugar-free recipes for Christmas; Festive chocolate truffles (via Noshu) Blueberry Pancakes (via Brit+Co) Choc-dipped tropical fruit (via Women's Weekly Food) Holiday Cut-Out Cookies (via Splenda) Mini Mince Pies (via Splenda) Avocado Chocolate Mousse (via Feel Good Foodie) Christmas Linzer biscuits (via Noshu) Gingerbread Cookies (via Ditch the Carbs) Chocolate peanut butter swirl fudge (via Noshu) Rhubarb and almond muffins (via Delicious) Leave a comment below with your thoughts or any favourite recipes that should have made the list! #sugarfree #SugarFreeBaking #sugarfreediet #sugarfreechristmas #christmasrecipes