RARE Round-up - keeping you up-to-date 24th October 2024
RARE Revolution Magazine
Accessible publication for the Rare Disease Community
RARE Mitochondria
The Lily Foundation is a UK charity that supports around 1,200 families affected by mitochondrial disease. It was founded in 2007 by Liz Curtis after she lost her daughter Lily at eight months old. At the time, Liz found there were no patient organisations or accessible information available for families dealing with a mitochondrial disease diagnosis. The Lily Foundation’s mission is focused on three key pillars: awareness, support for families, and funding research. Over the past 16 plus years, the organisation has grown to become the largest UK charity for mitochondrial disease and the largest funder of rare disease research in Europe. Read here .
We talk to leading charities United Mitochondrial Disease Foundation and The Lily Foundation , along with expert clinician and researcher Michio Hirano of 美国哥伦比亚大学 to understand the science behind our mitochondria and their role in rare inherited disorders and wider public health. They share their insights into the challenges and opportunities presented by unlocking the science, and discuss the importance of long-term funding, collaboration and data sharing to accelerate progress in the field. A field where a patient-focused approach will be fundamental to achieve personalised therapies for over 400 involved genes and known mitochondrial disorders.?Read here .
When Vicky Hewitt and Ruy Camacho learned about their son Alex’s life limiting condition, they were simply unwilling to accept the status quo. A diagnosis of thymidine kinase 2 deficiency (TK2d) initially left them in a state of paralysing shock, but with no time to lose and Alex’s rapidly deteriorating health, they were soon propelled into action. Read their story here .
With hundreds of conditions coming under the umbrella of mitochondrial disease, with varying degrees of severity and impact, it can be challenging to not only diagnose but provide the best possible clinical care for this group of RARE patients. Dr Caterina Garone and Dr Karaa, Amel,M.D. discuss the pathology and approach to care, with a focus on mitochondrial myopathies. Read here .
Often in rare disease, patient and clinical data are?kept separate and “data silos” are common, in?which data is controlled by one group or company?and is inaccessible to others. The landscape for?mitochondrial disorders is evolving in a different? direction, thanks to the concerted efforts of the?community to collaborate. Read more here .
Breast Cancer Campaign
Caitríona Plunkett is a PhD researcher at the School of Psychology of The Manchester Metropolitan University . Having been on her own journey with breast cancer she wanted to raise awareness, particularly among young women with NF1. Her research showed many women found it challenging to find reliable information and to be taken seriously by medical professionals. She would like to see women with NF1 feel empowered and take centre stage in their healthcare. Watch her interview here .
Prof Dafydd Gareth Evans was part of a team to first demonstrate an increased risk of breast cancer in women with NF1. He discusses these increased risks and the importance of early detection. While the NHS recommendation is for women with NF1 to get earlier breast screening at 40, Dr Evans highlights the need for women to be breast-aware at all ages to feel empowered about their health. Watch his interview here .
RARE Insights
Naomi lives with sickle cell anaemia. She talks about how her need to be a “Strong Nigerian Woman” held her back from seeking help, and how one of the biggest impacts on her day-to-day life has been how it affects her relationships with friends and family. Read here .
In a recent survey created by charity CMTUK of over 300 respondents living with CMT in the UK, 67% felt that less than 10% of the UK population has heard of CMT. That's why the charity CMTUK has made it their mission to increase awareness of the disease, especially during October's CMT Awareness Month. Read here .
The CMT Research Foundation , a non-profit focused solely on delivering treatments and cures for Charcot-Marie-Tooth disease (CMT)* has hired Laura MacNeill, M.B.A. as Chief Executive Officer.?Read here .
Discover Global Genes ' The RARE Disease Siblings Resource Guide with thoughts from RARE siblings. Find out more here .
We currently have four Sing Me a Story slots available. Sing Me a Story partners with talented musicians to turn children's imaginative stories into captivating songs. Get in contact?[email protected] ?for more information and to register your interest Listen to Allegra and Maddie's songs on our YouTube channel:?https://bit.ly/RAREREVYouTube . To download and donate, visit?singmeastory.org/partners/rare-youth-revolution/stories .
BREAKING NEWS: We're now booking for our Rare Disease Day social media takeover! It's a great opportunity to showcase your charity or not-for-profit across our social media platforms on the most important day in the rare disease calandar. Please email [email protected] for more information and to book your slot!
Events?
Do you have an event, conference, webinar or awareness day coming up that you would like us to share with our RARE community??Please drop us an email to find out about the advertising packages we offer. If you are one of our charity partners then it's included in your member benefits. We offer a variety of media partnerships and tailored social media/newsletter advertising packages. With a monthly reach of over 5 million people we are always looking for relevant newsworthy content. Start a conversation with us today.?Email [email protected] for more information.
Register for the event “PID Forum - Exploring The Impact of Medicine Shortages on PID Patients”, in collaboration with MEP Tomislav Sokol (EPP, Croatia) and IPOPI - International Patient Organisation for Primary Immunodeficiencies . When: 5 November 2024, 13:00 to 15:00. Where: European Parliament ASP 3H1, Brussels Register at?https://bit.ly/48nrirR
RAREFest is back in 2024—an award-winning festival as unique as you are for curious minds of all ages. from Cambridge Rare Disease Network (CamRARE) . Immerse yourself in a bustling marketplace of hands-on exhibits, interactive talks, films, and stunning research-inspired art. Discover the latest in innovative science, and cutting-edge technology and meet leading researchers, tech innovators, treatment pioneers, and individuals with rare conditions as they share their powerful stories. Join the event on Friday 22 and Saturday 23 November 2024 at the Guildhall, Cambridge UK. Secure your FREE tickets at camraredisease.org/rarefest24
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