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Celebrating 5 years! Our awareness film Timothy Syndrome Alliance, launched just 3 months after we became a charity, has won multiple awards and continues to connect families to the #CACNA1C community. #5YearsOfImpact #RareDisease DISORDER: The Rare Disease Film Festival PM Society Limestone Media

Our volunteer helped us create a website that offers info, support, and a "virtual hug" for those with a #CACNA1C diagnosis. Launched in Nov 2020, it's become the go-to resource with 10K+ visitors from 32 countries and 62K+ interactions. #StrongerTogether Media Trust

In Dec 2019, NMHII hosted our first #TimothySyndrome Alliance family day. Families shared experiences, tears, joy, and hope. #CACNA1C Talks from top researchers were shared globally for continued support. #5YearsOfImpact #StrongerTogether #RareDisease Cardiff University Neuroscience & Mental Health

The Student Voice Prize 2024 is here and The Patient Pairing Scheme is now open for patients until the 30th Oct! Share your experience with future medical professionals to inform their essays for the competition. @rarebeacon Medics4RareDiseases #SVP24 👉rarebeacon.org/student-voice-…

With the support & input from our #CACNA1C community #TimothySyndrome was added to approved PGT-M conditions in February 2020, & the Human Fertilisation & Embryology Authority (HFEA) granted a license for its use in PGT-M procedures. For more information about the HFEA please visit hfea.gov.uk #5YearsOfImpact

“I think anyone new to the diagnosis should know there are people who understand a lot as well have their own experiences which gives you comfort and support even if you‘re not quite ready yet.” #5YearOfImpact #CACNA1C #StrongerTogether

Together we aim to build upon the progress made in previous years and work towards new actions to address the priorities of our community. #5YearsOfImpact #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDiseases #PatientVoice

Find the film pinned in our profile 🎯 definitely worth a watch 👀 #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDiseases #Awareness #RareDiseaseDay Rare Disease Day PM Society Charity Film Awards World Health Organization (WHO) Rare Disease UK DISORDER: The Rare Disease Film Festival

Thanks to your support families can find us. This is incredibly impactful. Thank you! #CACNA1C #TimothySyndrome #LongQT8 #RareDiseases #Awareness #Advocacy

These events offer an opportunity to come together from around the globe, make connections and hear about the latest advances in understanding. #CACNA1C #Research #RareDiseases #Advocacy #Translation Cardiff University Neuroscience & Mental Health Charity Translators

In 2021, Cardiff & Stanford Universities began recruiting families w #CACNA1C variants for the first international study on its effects on brain development & mental health. The first paper, published in Oct 22, detailed the symptoms of 24 participants. Cardiff University Neuroscience & Mental Health Stanford University

📽 In 2022, filming began for 'The #RareDisease #Research Journey,' highlighting the importance of public engagement in research. Collaboration btwn NMHII & TSA, it showcases our commitment to understanding & #awareness. Full film coming soon! 👀 #CACNA1C Cardiff University Neuroscience & Mental Health

We are creating an educational guide for HCPs on the #CACNA1C patient journey. Grateful for OPEN Health's 200 hours of support! Delaying launch to ensure alignment with ongoing high-level discussions regarding CACNA1C nomenclature. 👊 #RareDiseases #Awareness OPEN Health Patient & Brand Communications

In 2022, #CACNA1C was added to the NHS Genetic #Epilepsy syndromes test💥 Listed as a ‘green’ gene on PanelApp, it now holds diagnostic-grade evidence for disease association, impacting patient diagnosis. We’ll keep advocating for global recognition. 💪#RareDiseases #Advocacy

We have been working with Rareminds since 2022 to support our #CACNA1C community through 'Mind the Gap' workshops & counselling. #RareDiseases impact every part of life, so #MentalHealth must be integral to care 💯 Rareminds players of Postcode Lottery #5YearsOfImpact

Partnerships like these are essential in advancing our mission to better understand, manage, and treat CACNA1C-related disorders 🎯 🤝 #CACNA1C #5YearsOfImpact #Collaboration #RareDiseases #Advocacy #Research

In July 2022 we joined the European Patient Advocacy Group (ePAG) for ERN GUARD-Heart ❤️ a group of patient advocates representing the needs of people with rare heart diseases. #CACNA1C #Collaboration #RareDiseases #Advocacy ERN GUARD-Heart EURORDIS-Rare Diseases Europe #5YearsOfImpact

The #CACNA1C Community #Registry (CCR) continues to increase in participants (currently 77 individuals enrolled 💪) We are working with our SAB to analyse the Registry #RealWorldData to publish as research to inform clinical & medical treatment. Pulse Infoframe Cardiff University Neuroscience & Mental Health

Whether or not an individual had long QT syndrome did not affect the risk of developmental or neuropsychiatric symptoms #CACNA1C-related disorders 🧠❤️ #Research Cardiff University Neuroscience & Mental Health Stanford University Rebecca J. Levy Jack Underwood #5YearsOfImpact

The frustrating journey from first noticing that something isn't right and going to the doctor to actually receiving a diagnosis #DiagnosticOdyssey #RareDiseases #CACNA1C Rare Disease Day Charity Film Awards #5YearsOfImpact