Madrigal Pharmaceuticals’ Post

Thank you, Bernadette Sheehan Gilroy, for emphasising the RAiN 'Cup O' Collaboration' event's approach to inclusivity and patient and public involvement (PPI). By facilitating participation for those unable to attend in person, we hope to underscore the importance of ensuring all voices, especially those directly impacted by rare diseases, are heard. This approach is not just considerate but crucial in healthcare research, where real-world patient experiences and insights can significantly shape research directions and improve care strategies. Special thanks are indeed due to Melissa Kinch and Niamh Buckle, who, from their early career researcher's perspective, played a vital role in supporting, hosting, and organising this event. Their efforts in addressing the day-to-day challenges and experiences of living with rare diseases are invaluable. Their work helps bridge the gap between research and real-life implications, ensuring that the research is grounded in the needs and experiences of those it aims to help. Events like these, where collaboration and communication between researchers, patients, and families are prioritised, are essential for the advancement of rare disease research. They foster a deeper understanding of the conditions and help develop more effective and empathetic approaches to treatment and care. Here’s to many more successful gatherings and the continued progress in rare disease research. Such initiatives bring hope and support to those affected and contribute significantly to the body of knowledge in this important area of healthcare. The support from the Irish Research Council (IRC) and University College Dublin in fostering such vital initiatives is crucial. Their backing for events like the 'Cup O' Collaboration' plays a significant role in advancing rare disease research and ensuring that the voices of those living with rare diseases are heard and valued. #rarediseases #researchculture #researchopportunity #PPI #edihealthcare #communityengagement The European Conference on Rare Diseases and Orphan Products Thilo Kroll McKnight Amy Jayne, Anne Lawlor Alan Finglas #All-Ireland Rare Disease Interdisciplinary Research Network #RAINDROP

Only 8 days to go! On February 29th we are celebrating the Rare Disease Day. Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels. Though Rare Disease Day is patient-led, everyone, including individuals, families, caregivers, healthcare professionals, researchers, clinicians, policy makers, industry representatives and the general public, can participate in raising awareness and taking action today for this vulnerable population who require immediate and urgent attention. I support Rare Disease Day! #RareDiseaseDay #RareDiseases #Equity

It's #rarediseaseday ! On the rarest day of the year, we come together as a community with one big voice to raise awareness for the 4 million people globally living with a #raredisease. I'm living with the ultra-rare disease #fibrodysplasiaossificansprogrogressiva (or in short FOP) and this year, I'm "celebrating" my 10 year anniversary of having been correctly diagnosed with FOP and my 20 year anniversary of having my first symptoms. I've come such a long way on a national level as vice chair of @fop_germany, on an international level as vice chair of the IFOPA's (@cure_fop) board of directors and on an European level as ePAG (European Patient Advocacy Group) advocate at ERN BOND (European Reference Network on rare bone diseases) and never dreamt any of these roles possible. Now, I am a passionate patient advocate and try to raise awareness with all my heart and educate as many people as possible about rare diseases. In the end, we are just people, and I wish people could see past our #disabilities. We are siblings, partners (in crime), spouses, friends, colleagues, etc, like everyone else. We also have hopes, dreams, and wishes like you (#wiedu). You can help us and be an #ally by liking and share our posts, not only today but every day. #shareyourstory #shareyourcolours #rarediseaseday2024 #rarediseaseawareness

🌟 Nanbpwc, Inc. - Northeast District 🌟⁣ ⁣ Raising Awareness for Health Disparities, Focusing on Sickle Cell 🩸❤️⁣ ⁣ Join us in shining a spotlight on an issue close to our hearts: Sickle Cell Disease and Health Disparities. Together, we can make a real difference in the lives of those affected. 🤝💪⁣ ⁣ Did you know?⁣ ⁣ Sickle Cell Disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian descent, but it can impact anyone. It's time to break the silence and work towards equitable healthcare for all. 🌍⁣ ⁣ 🔍 Let's:⁣ ⁣ 1. Raise awareness about Sickle Cell Disease and its impact.⁣ 2. Advocate for better access to treatment and care.⁣ 3. Support those living with Sickle Cell Disease.⁣ 4. Work towards a future where healthcare disparities no longer exist.⁣ ⁣ 💚 Your support can change lives and contribute to a healthier, more inclusive world. Let's turn awareness into action! 🚀

🦓🩵💜🩷💚Tomorrow marks Rare Disease Day, a day to come together and amplify our voices in support of those navigating the complexities of rare conditions. As we anticipate this day, I reflect on the memory of my son, Clayton T McCaskill, who, at just one year old, passed away of aggressive pulmonary vein stenosis, which we believe was associated with his extremely rare diagnosis of ATRX-syndrome. His journey serves as a powerful reminder of the importance of advocating for equity in healthcare, social opportunities, and access to therapies for individuals with rare diseases. Rare Disease Day, established in 2008 and coordinated by EURORDIS and 65+ national alliance partners, is not just a day but a global movement fostering unity across borders. It provides a platform for individuals, healthcare professionals, researchers, policymakers, and the public to share their colors, illuminate buildings, and raise awareness through various means. Tomorrow, let's collectively make a meaningful impact, honoring the memory of those like Clayton and striving to improve the lives of the 300 million people worldwide affected by rare diseases. #NORD #RareDiseaseDay #ShowYourStripes #CareforRare #RememberingClayton #CHD #PVS #ATRXSyndrome

March is Endometriosis Awareness Month, raising awareness and advocating for those living with endometriosis worldwide. Endometriosis is a painful disease that affects 1 in 7 Australian women, with many others remaining undiagnosed or misdiagnosed. Recipient of an NHMRC Ideas Grant in 2023, Dr Joel Castro Kraftchenko from SAHMRI is focusing his research on tackling chronic pelvic pain associated with endometriosis. Dr Kraftchenko’s research is aiming to use a novel immunotherapeutic approach to treat chronic pelvic pain in endometriosis #EndoAwareness2024

🌟 Honoring Rare Disease Day: Advocating for Awareness and Action 🌟 Today, on Rare Disease Day, we unite to shed light on the challenges faced by those affected by rare diseases and reaffirm our commitment to supporting and advocating for their needs. As a passionate advocate for healthcare inclusivity and a genetic counselor, I stand in solidarity with individuals and families navigating the complexities of rare diseases. Each rare disease may be unique, but the journey towards diagnosis, treatment, and support is often filled with common struggles – from limited access to specialized care to a lack of awareness among healthcare providers. Today serves as a poignant reminder of the critical role we play in advancing diagnostics and healthcare solutions. Let us use this day to amplify the voices of those affected by rare diseases, advocate for increased research funding, and foster collaboration among stakeholders across the healthcare spectrum. Together, we can make a tangible difference in the lives of millions worldwide. #RareDiseaseDay #HealthcareAwareness #Inclusivity #Advocacy #HealthcareInnovation

I'm honored to announce that I've been invited to speak on a panel about Health Equity for the entire Rare Disease community. As a staunch advocate for Sickle Cell Disease—a condition predominantly affecting individuals of African descent—I've had an enlightening journey realizing that we are an integral part of the Rare Disease community. Initially, at Rare Disease events, it was uncommon to see advocates or patients who resembled me or my daughter. However, persistence pays off. Year after year, by showing up, engaging in conversations, and sharing our stories, I've witnessed a shift. Our experiences and challenges, while unique, are a vital part of the broader narrative. Inclusion is key. It's crucial that every rare voice is heard, that we make our presence felt, and ensure our stories are part of the discourse in spaces that might not always seem welcoming. Over the past six years, I've observed a remarkable change: from being one of the few Black advocates in the rare disease arena to being part of a growing, diverse community that represents more than just Sickle Cell Disease. I'm thrilled to join other advocates on this panel to discuss and promote equity in the Rare Disease space. The journey from being a solitary voice to one among many underscores the progress we've made and the power of collective advocacy. Looking forward to sharing insights, learning from others, and furthering the conversation about health equity. See you all in June! #HealthEquity #RareDiseaseAdvocacy #SickleCellAwareness #DiversityInHealth

🔦 🌟𝗗𝗼 𝘆𝗼𝘂 𝘀𝗲𝗲 𝗺𝗲? 𝗜 𝗵𝗮𝘃𝗲 𝗣𝗛! Let's make a difference together! By uniting in advocacy, raising awareness, and fostering a community of unwavering support, we can expedite diagnoses for those battling PH and other rare conditions. Together, our collective efforts can pave the way for a future filled with hope and healing for all affected by these challenging diseases. Did you know? PH affects approximately 15-50 per million adults worldwide, with those numbers on the rise. This condition doesn't discriminate—it can strike anyone, at any age, including young children. Let's share our colors of compassion and solidarity this Rare Disease Day. Together, let's stand strong! 💪🤝 ➡Discover the change PHA Europe is making for pulmonary hypertension patients. ➡www.phaeurope.org Hipertensión Pulmonar Argentina PH Belgium - Pulmonale Hypertensie vzw Hipertensión Pulmonar España ORG Pacientes Fundación Contra la Hipertensión Pulmonar Asociación Nacional de Hipertensión Pulmonar ANHP Stichting Pulmonale Hypertensie / PH Association the Netherlands PH Serbia #RareDiseaseDay2024 #rarediseases #PHAEurope #pulmonaryhypertension #CTEPH #RareMeansUnique #RDD #ShareYourColors #ShineForRare #Awareness #rarecommunity

On this International Day of Families, we come together to celebrate the strength and unity of families around the world. Families are the first line of support, offering love, care, and unwavering commitment to their members. For individuals living with rare diseases, families are more than just a source of emotional and physical support—they are advocates, caregivers, and champions of hope. Families play a pivotal role in the journey of those affected by rare diseases. The rarity of v-ATPase conditions means that affected individuals and their families may struggle to find resources, medical and expertise. Here, the family’s role becomes even more critical. Families band together to seek out information, connect with medical professionals, and support research initiatives that strive to improve treatment options and ultimately find cures. Here, at v-ATPase Alliance, we are a Parent-lead Foundation. Above all we are Families: Blood families. Chosen families. A Community that fights to understand these families' experiences and fights for guidance. Together we can face any challenge and move towards a future where rare diseases are met with comprehensive care and hope. Happy International Day of Families. Let us continue to support and uplift each other, today and always. #InternationalDayOfFamilies #CareAboutRare #vATPase