PTC Therapeutics, Inc.’s Post

Attending the #ECRD2024 from EURORDIS-Rare Diseases Europe online has really been inspiring and a wonderful way to still be able to attend, learn, and connect with other patient advocates. It's heartening to see how technology enables us to come together despite physical distance, united in our shared mission to make a difference in the world of rare diseases. In the rare disease community, the power of unity is truly remarkable. By joining forces with advocates from different rare diseases, we amplify our impact and create a stronger voice for those who often go unheard. Together, we can drive change, raise awareness, and support each other on this challenging yet rewarding journey. Let's continue to stand united, inspire one another, adapt the best practices already working and make a positive difference in the lives of those affected by rare diseases. #ECRD2024 #Eurordis #conference #raredisease #acanthamoebakeratitis #advocate #patientadvocate #patientorganizations #akeyefoundation #nohealthwithoutmentalhealth #leavenoonebehind

Go Cindy Evans! You are the first of many Patient Ambassadors who will benefit from this important opportunity! Are you a person living with #HoFH or #FCS (one of the rare familial lipid disorders we advocate for)? Would you like to learn more about advocacy, innovation and research for rare diseases? Connect with Cindy Evans to explore Ambassador opportunities! EURORDIS-Rare Diseases Europe

We all know how important symbols are, they are a great way to raise awareness and show solidarity without having to say much. Today I'm joining the global #showyourstripes movement, as I continue to do so for others 🍉! As an ambassador for Medics 4 Rare Diseases I appreciate how important it is to raise awareness of #rarediseases but also to show those who have one that we care, we listen, we are here! How are you showing your solidarity on this #rarediseaseday #rarediseaseday2024 ?

Up to 36 million people in the EU live with a rare disease.    On #RareDiseaseDay, we reaffirm the importance of raising awareness and improving the national plans for rare diseases in EU countries.    We recommend to:  🧬 establish a comprehensive European action plan;  🧬 keep the rare disease policy on the agenda;  🧬 optimise the functioning of the European Reference Networks;  🧬 create a Special EU Financial Fund.    The #EUCivilSociety and patients' associations are keen to see progress in the field of rare diseases.    Join our conference ‘Rare Diseases in the EU’ on 8 March: europa.eu/!JKx43m    #EU4Health 

One of the challenges of measuring the true impact of rare disease is the lack of appropriate quality of life assessment tools that adequately capture the impact of a condition, and its associated management, on an individual. We welcome work such as this from Truninger et al that seeks to develop better approaches to recording the impact of Pompe on children and adolescents affected by this condition. The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease Moritz Ilan Truninger, Helene Werner, Markus Andreas Landolt, Andreas Hahn, Julia Hennermann, Florian Lagler, Prof. Dr. med., Dorothea Möslinger, Charlotte Pfrimmer, Rohrbach Marianne, and Martina Huemer https://lnkd.in/eUecVDXt #pompe #raredisease #PROMs

🛎️ PAHO's, Dr. Jarbas Barbosa, has called on countries and partner organizations to ensure equitable access to innovative solutions and advanced technologies to accelerate progress towards disease elimination in the Americas. Speaking at a briefing session of the Organization’s 61st Directing Council, the PAHO Director underscored that it is imperative to “take advantage of available innovations and technologies to alleviate the suffering of those affected” by communicable diseases. ℹ️ Read more: https://lnkd.in/e3-U6J2c #CD61

I’m looking forward to contributing to this event, discussion and the work to prevent and reduce NCDs through healthy taxes, such as alcohol taxes. People support raising alcohol taxes, especially when the additional funds are reinvested into health, social and other pro-people services. Alcohol taxes are powerful tools because they reduce costs, as well as raising new revenue and unlocking returns on investments. So there are two good reasons for other ministries, including the finance ministries of the world, to support raising alcohol taxes. #AlcPolPrio #HealthForAll #MentalHealth #NCDs

❗There are 300 million people worldwide living with a rare disease❗ Today on #RareDiseaseDay, we stand with the global community to raise awareness of the 6,000+ different rare diseases across the world and advocate for equitable access to diagnosis, treatment, care, and social opportunities. 📣 Did you know...❓ • A disease is rare when it affects fewer than 1 in 2,000 people • There are over 6,000 identified rare diseases • 70% of rare diseases start in childhood • 1 out of 5 cancers is rare Working with the rare disease community is central to who we are at 67health. 🧬In collaboration with our partners, we continue to support ground-breaking research, advocate for better care, and champion the voices of those often unheard. Learn more and get involved at rarediseaseday.org Together, we are stronger. 🧡

🌟 Join Agape Global in supporting Rare Disease Day! 🌟 Today, we stand in solidarity with individuals around the world living with rare diseases. 💪 Rare Disease Day is an annual observance dedicated to raising awareness and understanding about these conditions and the challenges faced by those affected. 🔍 What is Rare Disease Day? It's a global initiative aiming to improve the lives of people with rare diseases by increasing awareness, supporting research, and advocating for better access to healthcare and treatments. 🗓️ When is Rare Disease Day? Rare Disease Day falls on the last day of February each year. This year, we mark it on February 29th to highlight the rarity of these diseases, occurring only in leap years. 🤝 Let's Get Involved! Join us in spreading awareness and showing support for those affected by rare diseases. Together, we can make a difference. 💙 #RareDiseaseDay #ShowYourRare #CareForRare #RareDiseaseAwareness #AgapeGlobal #RareDiseaseAwareness #Support #Community #Healthcare #Research

Rare Disease Day was first observed in 2008 by #EURORDIS and the Council of National Alliances to raise awareness about #rarediseases. It falls on the last day of February, but in leap years like 2024, it is observed on February 29th. This day aims to shed light on the challenges faced by individuals and families affected by rare diseases. #rarediseaseday EURORDIS-Rare Diseases Europe