RDCA-DAP Scientific Director @CPathInstitute, patient advocate, neuroscientist, and proud mom. Opinions are my own.

Colorado
Joined March 2017
Heidi Grabenstatter retweeted
This tragedy is exactly why law enforcement agencies and all first responders must have mandatory seizure response training. As a first responder myself, and seeing the body cam footage, it’s clear that this police response was irresponsible and criminal. My heart breaks for this family.
Epilepsy Foundation of America Statement on the Death of Rhyker Earl
1
1
7
353
One week ago today, I had the opportunity to get "dressed up" in my tuxedo and received the Arthur Ashe ESPY Award for courage. It remains a sublime honor, given that Arthur Ashe exemplified courage as living with an open heart of humility, kindness, and generosity that united humanity. With that in mind, do we have the courage to unconditionally love our neighbors, our so-called enemies, and love ourselves? “The more you are motivated by love, the more fearless and free your action will be.” Dalai Lama
21
57
6
1,143
44,093
Heidi Grabenstatter retweeted
I'm the mom of a child with an incurable, catastrophic epileptic syndrome. If you are a researcher, doctor, or advocate, and someone on the internet is making you feel unwelcome in the disease area you are currently in, you are MOST WELCOME to come work on epilepsy. 1/
1
4
3
25
7,106
Heidi Grabenstatter retweeted
Here’s a real, raw #RareDiseaseTruth: the total mess and heartbreak of life with these diseases. It’s not all cute pictures and victories. During a scary 30 minutes sitting in the ambulance with our daughter, as the rig started driving us to the hospital, I looked out the window and saw my son helpless and crying on the street watching the ambulance drive away with his sister inside. That was devastating. And tough. But so is he.
10
6
39
2,371
Heidi Grabenstatter retweeted
Today is World CDKL5 Day 🌍💜 #CDKL5 deficiency disorder is a rare genetic 🧬 condition that includes early-onset #epilepsy & neurodevelopmental impairment that affects cognitive, motor, speech and visual function. Learn more at CDKL5.com 💜 #CDKL5Awareness
1
11
21
1,104
Heidi Grabenstatter retweeted
Today, I am pleased to share more good news from the Biden Harris Administration for people with #disabilities - holding airlines accountable to people using wheelchairs! #disabilityinclusion
4
23
2
52
2,493
Heidi Grabenstatter retweeted
Congratulations Dr. Maurizio Giustetto, 2023 Million Dollar Bike Ride Awardee - cdkl5.com/blog/congratulatio… 🩷🩷🩷🩷🩷🩷
4
1
18
507
Heidi Grabenstatter retweeted
Researchers at @TheCrick , @ucl & Merck have identified a potential treatment target for a genetic type of epilepsy incl CDKL5 deficiency disorder (CDD). They identified a calcium channel, Cav2.3, as a target. Merck & The Loulou Foundation funded crick.ac.uk/news-and-reports… the research
1
1
1,397
I am so excited about this new partnership between @LGS_Foundation @RareDiseases and @CPathInstitute. Thank you @US_FDA for funding this vital work to advance #LennoxGastautSyndrome research!
The @LGS_Foundation is one of two groups selected to start an IAMRARE registry and submit data to RDCA-DAP, a big step forward for #LennoxGastautSyndrome research! RDCA-DAP is a collaboration between NORD, @CPathInstitute and @US_FDA Learn about IAMRARE: bit.ly/46Nkykz
2
4
17
709
Heidi Grabenstatter retweeted
💻Free webinar opportunity: “Rare aware: What you need to know about Infantile Spasms.” Join the Epilepsy Foundation in partnership with the Rare Epilepsy Network for a webinar on Monday, December 11th at 1pm ET. 1/2
1
1
1
183
Heidi Grabenstatter retweeted
New online! Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes go.nature.com/3sNkqnh
5
166
11
519
101,404
My husband, @ProfRyanRussell has been battling cancer for 17 months Today, we officially had to start hospice Our hearts are broken. Yet on his 41st birthday last week, I got to tell Ryan his dream came true- he officially is a published author ❤️ a.co/d/fodmKrd
462
156
57
4,366
1,420,927
Heidi Grabenstatter retweeted
POV: Telling your parents you just won the @NobelPrize... @WeissmanLab
54
564
205
3,656
697,912
Heidi Grabenstatter retweeted
Recognizing the winners of this year's Champion of Hope Awards. Congratulations! #WeekinRARE #ChampionsofHope #COH23 #GGSummit23 #GGSummit #GlobalGenes #CareAboutRARE
1
2
372
Heidi Grabenstatter retweeted
Join us for a case study on Monday, September 11, at 12:30 pm US EDT to hear about ASO treatment for SCN2A-encephalopathy, allele-specific vs non-specific, with Heather Olson and Elizabeth Berry-Kravis. Register here: bit.ly/487WDhC
2
2
4
565
Honoring our Duchenne families and community today on #WorldDuchenneDay with a a new C-Path Impact Story. c-path.org/impact_story/d-rs… #CPath #DMD #Duchenne #raredisease #DRSC #collaboration #globalhealth #datasharing #drugdevelopment
2
2
4
611
Heidi Grabenstatter retweeted
Treatment of seizures in the #neonate: Guidelines and consensus-based recommendations—Special report from the ILAE Task Force on Neonatal Seizures doi.org/10.1111/epi.17745 #antiseizuremedication #Delphi #guidelines #seizures #epilepsy #ILAE @IlaeWeb @epilepsiajourn @WileyNeuro
24
1
58
4,722
Heidi Grabenstatter retweeted
#CDKL5 research opportunity! One $60,960 grant is available to study CDKL5 deficiency disorder. LOI due Sept 15. Thanks to Team CDKL5 Riding for a Cure 🚴🏻 and everyone who donated to make this possible!
🚨🚨🚨The 2023 #MDBR Pilot Grant Program is now open and accepting Letters of Interest (LOIs)! Apply here today: bit.ly/MDBR2023RFA LOIs are due Sept. 15th. Grants are open to the international research community. 🔬🔬🔬 #raredisease #rfa #pennmedmdbr2023 #rarediseasegrants
2
2
375
Heidi Grabenstatter retweeted
📣 CDKL5 Family Conference Save-the-Date! June 13-15, 2024, the IFCR will host our 6th International Family Education and Awareness Conference in Cleveland, Ohio! ✨ This in-person event is treasured by our community. You don't want to miss it! Details to come! #CDKL5
1
1
5
401
Heidi Grabenstatter retweeted
An important #FDA consideration if you are navigating upcoming #clinicaldevelopment in #RareDisease. Double edge sword as some of cross disease instruments may not yield all the disease specific nuances. Looking forward to more updates about the endpoint advancement program... raps.org/News-and-Articles/N…
1
3
204