Rare Disease Day

💜🌍 Today is Rare Disease Day! 🌍💜 Together, we stand with the 300 million people worldwide living with rare diseases. In uniting on this day we can raise awareness, advocate for change, and promote a more equitable future! ⚖️ Let’s use this moment to recognise and highlight the voices and stories of the rare disease community. Share your story. Share your advocacy. Share your voice. Go to our website to learn more: https://lnkd.in/gk6hbAF #RareDiseaseDay #LightUpForRare

Have you ever heard of William’s Syndrome? Algas' parents learned about it when he was diagnosed at 8 months old with this rare neurodevelopmental genetic disorder which causes mild learning difficulties. Through four heart surgeries and countless challenges, he has inspired his parents beyond words, leading them to establish Centre-Alliance in Kigali, an organisation dedicated to supporting children with rare diseases and empowering families with knowledge and care. Its mission is to raise awareness and build a community of hope. 🌍💙 At 18 years old, Algas continues to improve and inspire others. Read more about his story and try and spot him in our official video for #RareDiseaseDay 2025: https://lnkd.in/e6nnkPvZ

🎙 New Podcast Episode: Rare Disease Day Stories 🎧 In this episode, we explore Noah's journey with neuropathic corneal pain and Meesmann's dystrophy. Noah began experiencing severe eye pain in his 30s but it was initially dismissed as routine strain. As the burning sensation intensified, he sought medical advice, only to face inconclusive tests and skepticism from specialists. Despite debilitating pain and vision loss, Noah's condition remained undiagnosed for years, highlighting the challenges rare disease patients often encounter within the healthcare system. His story highlights the critical need for increased awareness, research, and support for individuals living with rare conditions. Listen to Noah's story here: https://lnkd.in/eVvtBRP4

Meet Charo, a true fighter living with SYNGAP1, a rare genetic disorder that impacts her neurocognitive system, causing intellectual disabilities, developmental delays, behavioral challenges, and epilepsy. 💪🏽 Since birth, Charo has faced each challenge with incredible strength. Though she only speaks a few words, her ability to communicate love and affection shines brightly. At her special education school, Charo thrives in various therapies, including equine therapy, where she rides her cherished horse, ‘Top’. 🐴 While living with a rare disease comes with its hurdles, Charo’s determination and spirit never waver. Inspired by her journey, her family founded the Syngap1 Foundation in Argentina advancing research on, raising awareness for, and offering support to other families living with SYNGAP1. Read more and check out our official video here: https://lnkd.in/e6nnkPvZ

Joy. That is what Radost’s name means in Bulgarian. 😊 This is 16 year old Radost from Bulgaria. She was diagnosed with metastatic Ewing Sarcoma in March 2023. Her diagnosis was made ultimately in Istanbul forcing her and her mother to relocate to Turkey for a year and 4 months, away from her father and sister. She went through a number of courses of radiotherapy, chemotherapy and surgery to a remove a brain-compressing skull tumor. However, despite these challenging times, Radost studies commerce and banking, speaks English and French, and continues to pursue her passions of rescuing animals and dance. 💃🏻 Read more: https://lnkd.in/e6nnkPvZ

We are back again with an event to inspire you for #RareDiseaseDay 2025! Today, we have the “Informar sem Dramatizar” program created by Rare Diseases Portugal. This program has three objectives: inform, educate and involve. Targeted at children and young people through the distribution of resources such as infographics, flyers, illustrations and books, the program aims to teach them how to understand rare diseases, remove the stigma and encourage people not to discriminate against those with differences. 📓 Teachers receive materials and some training facilitating hour and a half’s classroom activity. So far, the program has been used by schools across Portugal and raised awareness about rare diseases among hundreds of children. Check out their website here: https://lnkd.in/d_nnNb5D If you work with children, this is an amazing way of advocating for the rare disease community within the classroom! Our school toolkits contain all kinds of information and activities that can be useful in educating young people from a number of different age groups about living with a rare disease. Check them out: https://lnkd.in/d4B6KA5v

🎙 New Podcast Episode: Rare Disease Day Stories 🎧 This week we meet Eden, who was diagnosed with CMTC (Cutis Marmorata Telangiectatica Congenita) as a baby. Growing up with marbled skin markings brought challenges, from navigating social stigma to struggling with self-acceptance. But with the support of her parents and a shift in perspective, Eden embraced her uniqueness and found strength beyond her appearance. Today, she channels her creativity into filmmaking, using her passion to inspire others and raise awareness for rare diseases. Eden’s story is a celebration of self-worth, resilience, and the power of storytelling in connecting and empowering communities. Listen to her story: https://lnkd.in/eusHsKNk

Do you recognise Ava and Tammie? ⏩⏩ That’s right! They feature on the official Rare Disease Day 2025 Video. 📺 Ava was diagnosed with Maple Syrup Urine Disease, a metabolic disorder that affects the breakdown of protein containing foods, at just 16 days old. Tammie recalls the day she found out about Ava’s diagnosis. Her phone rang. The doctor had called with urgent news. It was totally unexpected. This is when she found out that the newborn screening test had detected a rare genetic disease. Without treatment, Ava could develop brain damage. After spending a week in Melbourne, their live with MSUD began. There was so much to adapt to; a new diet, regular medication and frequent blood tests. For her parents, exhaustion, the loss of their social life and worry became normal. Luckily, they were able to connect with others living similarly through the Metabolic Dietary Disorder Association. Tammie believes that support when dealing with such a huge change is necessary, not only physically but emotionally too. Tammie’s experience serves as a reminder that rare diseases don’t only impact the person living with one but their families too. Rare Disease Day is about shedding light on the experience of the entire community, including caregivers. Read more on Ava and Tammie and see if you can spot them in our official video for Rare Disease Day 2025: https://lnkd.in/e6nnkPvZ

Imagine the population of the 3rd largest country in the world. 🌎 Imagine every man, woman, person and child in that country. 🧑🏿🤝🧑🏿 And now imagine every single one of them was living with a rare disease. On #RareDiseaseDay, we aim to highlight the voices of every one of these people and raise awareness about their experiences. Ultimately, giving the rare disease community a platform to share their experiences allows us to generate change and catalyse the process of achieving equity. Download our Infographics: https://lnkd.in/efRbDevB

Meet Carina, an award winning artist and inspiration for others living with a rare disease. 🎨 Carina’s journey started at birth, having been born with Ehlers Danlos Syndrome, a genetic disorder that affects the connective tissues of the body. However, it was not until 2015, after having battled with two cases of a collapsed spine at age 10 and again at 30, as well as a number of other complications, that she was diagnosed. She describes herself as a ‘walking miracle’ after having defeated death on multiple occasions. It was one of these near death experiences that pushed Carina into the world of art. It was at this point that she discovered her passion for drawing and painting, inspired by the child prodigy Akiane Kramarik. 🖌️ Since 2015, Carina has produced 140 drawings and paintings and won over 170 awards. Her art reminds us that living with a rare disease does not stop you from pursuing your passion and developing a talent. As she puts it herself, ‘it’s never too late to do what you love'. Read Carina’s full story here: https://lnkd.in/ew7QrK5W