Top Tweets for #SCN8AAwareness
We’re proud to recognize all warriors living with SCN8A. Caused by a mutation of the SCN8A gene, it often leads to developmental delay, low muscle tone, GI issues, vision impairment, and severe epilepsy.
#SCN8AAwareness #InternationalSCN8AAwarenessDay #IAm
🚀 Day 1 of the SCN8A Research Roadmap workshop at MIT in Cambridge, MA is off to an incredible start!
#SCN8A #SCN8AResearchRoadmap #scn8aawareness #scn8astrong #thisisscn8a #collaboratingforacure #curescn8a #epilepsyawareness
Genetic testing is crucial for the early diagnosis of SCN8A-related disorders and other epilepsies. Early detection can improve seizure management and outcomes.
Read more at https://t.co/BOg2KFdp6z
#scn8a #scn8aawareness #epilepsy #epilepsyawareness #genetictesting #genetics
SCN8A Gain of Function
Optimal first-line medications for treating #SCN8A GOF variants based on global consensus are Oxcarbazepine and Carbamazepine. Exercise caution with Levetiracetam.
For more information, visit https://t.co/SKHLIbS5vC
#scn8aawareness #ndds #scn8astrong
🌸 Meet Lisa, a Remarkable SCN8A Mom 🌸
"Being an #SCN8A mom...means having your heart flooded with so much love and amazement for your child every day, seeing all the things that they do accomplish while they are running the race of their life."
#SCN8AAwareness #SCN8AStrong
🚨 SCN8A Families - We need your help!
Take our Caregiver Research Priorities Survey & help shape the future research/ bring our children improved quality of life. It takes less than 10 mins!
🌐 https://t.co/5dpEpq61z4
help - [email protected]
#SCN8AAwareness #CureSCN8A
Don't miss late-breaking information on caring for those with #SCN8A. The International SCN8A Alliance will present the FIRST-EVER global Consensus on the Diagnosis & Treatment of SCN8A-related disorders
April 7th - Register:https://t.co/OMWATMuhjM
#scn8aawareness #scn8astrong
An #SCN8A diagnosis requires genetic testing via an epilepsy gene panel, exome sequencing, or a whole genome sequencing. Many, maybe most, people with SCN8A have yet to be diagnosed. Visit https://t.co/BflU5Oo0re to learn more. #SCN8Afact #SCN8Aawareness #SCN8AStrong #thisisscn8a
💟💜Today is Purple Day💜💟– a global initiative to raise epilepsy awareness. Epilepsy can affect anyone, at any age, and it’s more common than many realize. Wear purple today to support education about this condition affecting millions. #EpilepsyAwareness #scn8a #scn8aawareness
📢Don't miss the launch of the FIRST-EVER Global Consensus on the Diagnosis and Treatment of SCN8A, a historic milestone for the SCN8A community.
Sunday April 7th at 4 PM EST | 1 PM PDT | 10 PM CET | 7 AM AEST (+1) https://t.co/qX1YLQuWtL
#SCN8AAwareness #SCN8AStrong #CureSCN8A
Meet Kolson, a courageous boy living with #SCN8A. Diagnosed at just 5 months old, he went through countless hospital stays & up to 150 seizures a day. Kolson's family found a "miracle" medication two years ago that dramatically reduced his seizures! #SCN8AAwareness
🌍🦓 Rare Disease Day 🦓🌍 reminds us that even the most unique conditions are part of a larger fight. 🥊 The complexity and challenges of SCN8A underscores the importance of raising awareness for all rare diseases on this day. 🧬🎗️ #RareDiseaseDay #SCN8A #SCN8AAwareness🤝💜
🌟 Missed our International SCN8A Awareness Day online event? We've got you covered!
👉 Catch up here - https://t.co/r2KKVOjH0C
If you want to join us in advancing SCN8A research, you can help as we are #CollaboratingForaCure #SCN8A #SCN8AAwareness #SCN8AStrong
We remember Everleigh, a beautiful #SCN8ASuperhero who showed immense bravery. Her mom, Chelsea, says, in her 13 months "She surpassed all their expectations." Though she's no longer with us, her warrior spirit fights on in our advocacy. 🌟 #SCN8AAwareness #SCN8AStrong #SCN8A
🌈 Reflecting Back on SCN8A Awareness Day 🌈
Dr. Hammer shares how our approach has become a model for other rare diseases - to rapidly get from gene discovery to precision medicine.🧬💡
📣Is your registry profile is up to date? https://t.co/xZ3G31ZWZp
#SCN8A #SCN8AAwareness
Xavier from Victoria is our #SCN8ASuperhero and resident horse whisperer 🐴. At 17, he competes in horse riding, facing life with SCN8A like a champion - tackling every challenge head-on. 🌟 Share Xavier's & tell your #SCN8A story here /bit.ly/scn8aq #SCN8AAwareness #SCN8AStrong
Today is SCN8A Awareness Day. SCN8A is a gene that encodes a voltage-gated sodium channel and affects how brain cells function. Mutations on this gene can cause neurological problems that can include epilepsy and learning difficulties #SCN8AAwareness #CareAboutRare
🌟 Feb 9, 3PM EST: Join us for International SCN8A Awareness Day to honor Shay Emma Hammer & all affected by #SCN8A. Let's create a future without SCN8A together. Your support fuels critical research & care. Details: https://t.co/1yFRGxnmFB #SCN8AAwareness #CollaboratingForACure
Shoutout to Braum, our #SCN8ASuperhero from Dayton, OH! 🌟 Facing challenges with a brave heart, he still finds time to rescue animals & keep everyone laughing. Plus, he's a horror game creator in the making! #SCN8AAwareness #SCN8AStrong
#SCN8A Visit us at https://t.co/BflU5Oo0re
📅 2024 marks the 10th anniversary of the International SCN8A Alliance. Reflecting on a decade of progress, we're grateful for the global community we've helped build. 🌍💪 To everyone who's been part of this journey, thank you! #SCN8Aawareness #CureSCN8A #CollaboratingForACure
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