An article of @NancyMusarra's on an important topic that needs more awareness and understanding 🤍
9 Potentially Life-Saving Facts About #Autism For Judges, Law Enforcement & Court Personnel ⚖
I recently preordered a @Tesla Cybertruck with the idea of modifying it for my 3 yo daughter’s medical needs (@KCNT1_Epilepsy). Now I want to convince @elonmusk to make the 1st factory built medically-adaptive e-vehicle. There is a market and this is an ideal vehicle platform.
So proud to be part of such an amazing team of epilepsy Mums- kicking goals and changing the world for our kids and the KCNA2 community 💙 so proud of our achievements and looking forward to many more in the future 🧬🔬🏆
#MovingMountains for #KCNA2#RareEpilepsy
MEET OUR BOARD OF DIRECTORS 💻
Nancy Musarra Ph.D.
Renee Swannack
McKayla Leber
Alysha Applebaum
Oriana Horneck
More info can be found on our website https://t.co/O17zed9JLn
For more info or to participate in our Natural History Study please contact [email protected]
You know the future is looking brighter when a team like this is researching the gene responsible for your child's rare epilepsy diagnosis.
Go Team Filadelfia!
#KCNA2epilepsy#JustACurePlease#NoPressure 😜🧬🔬🔦
This is my awesome team at the Danish Epilepsy Centre, Filadelfia. Our team are aiming to help improving diagnosis for individuals with genetic #epilepsy through genetic testing, to raise awareness of genetic epilepsies and to help paving the way towards #PrecisionMedicine.
HISTORY OF KCNA2 🧬🔬
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On August 31, 2012, Steffen Syrbe MD and an international team of researchers first identified alterations in the KCNA2 gene as cause of a rare neurological disorder starting in early childhood.
Our very first KCNA2 Epilepsy International Awareness Day is almost here!
💙 For more information on KCNA2 please visit our website https://t.co/d5S8n9uc5X
💙 For more info or to participate in our Natural History Study please contact [email protected]
Looking forward to our virtual Disability Transition Conference #SWANaus21 tomorrow. You can register to attend until 9pm tonight https://t.co/zMJRoCv451. We have a range of #SWANaus parents presenting and some guest presenters covering ECIS, kinder, school & post school options.
Last day today to register for the @swanaus Disability Transition Conference! 👏 10:00am AEST tomorrow. Speakers include SWAN parents & guests discussing ECIS, kinder, schooling, govt supports, puberty, personal safety & post-school options ❤ #SWANaus21 https://t.co/4RpfmmTqNd
'What does it mean to be a rare parent? It is exerting a force of will so strong that, even for only the briefest of moments, the line between the possible and the impossible bends' #GETA2021
Feeling inspired by all of the research information and genetic epilepsy parent stories being shared at the #GETA2021 conference. Just wanted to share some of the faces of #KCNA2 who insipire us every day 💜🌏
Difficult for me to take a photo through tears @mattmight, I wasn't expecting such profound beauty from a talk on precision medicine. Thank you for being here with us, not only as a researcher but also as a fellow rare parent #GETA2021
@mattmight thank you so much for sharing Bertrand's story. No words besides a deep appreciation for how you have both helped to make the world a better place together 🌄 #GETA2021
So sad I'll miss seeing everyone in person, but looking forward to a Covid-Safe online conference. A big thank you to @geneticepilepsy and @krispmelb for such fantastic organisational skills allowing the conference to go ahead fully virtually.
See you all online May 29! 🌏
GETA 2021 - PIVOTING TO FULLY VIRTUAL
Due to the unfolding COVID situation in Melbourne the GETA team have made the difficult decision to move to a FULLY VIRTUAL conference.
The link to livestream is HERE : https://t.co/rZ4vhY7va0
See you online May 29! 🌏
#GETA2021
HAVE YOU BOOKED YET?
Sat 29th of May, both in person & virtually, the GETA team are hosting an amazing line up of genetic epilepsy specialists. See link for further details!
I'll be there flying the KCNA2 flag! Make sure you say hi!
Check out the new #rareepilepsy organisation now listed on our website! @Kcna2Epilepsy - connecting parents and families from around the world who are affected by KCNA2 epileptic encephalopathy. 💜
https://t.co/LtjLuwxI1D #epilepsy#kcna2
Shared the most amazing night with a room full of my Pea-ple at the @too_peas live show! My favourite podcast live on stage 💚 My voice is husky and my face hurts from laughing. So good for the soul on every level.