Kudos to Tracy Dixon Salazar for getting her rare epilepsy story out bringing awareness to ALL. 100's of rare epilepsy orgs - 1 stop! This Mom Got Her PhD to Learn More About the Cause of Her Daughter's Seizures people.com/mom-gets-phd-t… via People

Honored to come to Canada with you over the air waves!!

All rare diseases deserve a chance st treatment no matter how rare!
Thank you RARE Revolution Magazine for sharing my story.
#rarebone MGH Endocrine Unit Research shout out to Dr. Jueppner and Dr. Gardella for leading the way for ultra rare disease like Jansen's!

Effie turned the darkest hours of her life into a beacon of light for other rare families like hers, which she does through the power of storytelling via her popular podcast, Once Upon a Gene.
bit.ly/OnceUponAGene
#WomenInRare #CTNBB1 #OnceUponAGene #Podcast Effie Parks

Attention to those attending the Global Genes Rare Drug Development Symposium next week:
CTNNB1 Connect & Cure

Click to listen to the trailer:
I created Once Upon A Gene to connect with others in the #raredisease community. Becoming a parent to a child with a rare disease was extremely isolating for me. Finding others who 'get it' has changed everything.
effieparks.com/podcast/trailer

Have a diagnosis of #CerebralPalsy ?
Get a #GeneticTest

Today, we are walking for LGS Foundation and LGS Research. Woo hoo!!! Thank you to all who donated!! 💜💚💜

Savannah’s Walk ‘n’ Wheel for LGS Research

lgsfoundation.salsalabs.org/2024walkforlgs…

Excellent depiction! We’re aiming to improve this journey for Kabuki syndrome and others - KS families, save the date for our May 9 webinar to discover the power of your diagnosis!

Many have attempted 2 illustrate the journey a fam undergoes when seeking a #GeneticTest that may lead 2 a #Raredisease dx, often these depictions fall short of capturing the true essence of the experience. I aim 2 provide a more accurate & factual representation of this journey.

Looking forward to World Orphan Drug Congress USA
#RareDisease #AdvocateLikeAMother

A NASEM Health committee is seeking input from anyone impacted by, or interested in, U.S. #NewbornScreening to inform a study on strengthening and modernizing these essential programs. Learn more and sign up here: ow.ly/aqVq50QMgmx

I wrote this short blurb about Michael J Fox (Michael J. Fox) for the annual #Time100 . This man means a lot to me. And I know he means a lot to you… ⬇️

I know Michael J. Fox. Like, I know him pretty damn well. He’s funny. He’s warm. He’s handsome and intensely smart. He also…

Check out the newest edition of RARE Revolution Magazine featuring some incredible Women in RARE.
Thank you for including me alongside so many badasses.
#RareDisease #CTNNB1
rarerevolutionmagazine.com/previous-editi…

The Oudin lab is looking for a new research technician to work on our cancer innervation project. Apply here!
jobs.tufts.edu/jobs/20392?lan…

Such a special moment from @mamabearforrare and her daughter. A beautiful day for this incredible rare disease warrior and family. ☀️ 🧬 💙

#BehindTheMystery #CareForRare #RareDiseaseCommunity #RareDiseaseAwareness

And we’re back. Training for her walk for LGS research with a little yoga.

lgsfoundation.salsalabs.org/2024walkforlgs…

LGS Foundation
#Walk4LGS
#LennoxGastautSyndrome #epilepsy #intellectualdisability #autism #Disability #Ability

Don’t miss out! Check out Effie Parks. #RareDisease parent Effie Parks shares her family’s experiences, interviews with experts and moving stories from other rare disease families. Powerful, timely, well worth a listen! #RareandReady #podcast effieparks.com/podcast