MelBoyMadre

Mom fighting for a cure for #DravetSyndrome & childhood onset #epilepsy. Former #keto counter

[Ethan Perlstein 1-to-N @eperlste]

Rare diseases don’t sell.

Some say it’s the word “rare” — terrible branding, to be sure. Is there some magical marketing copy no one’s thought of yet?

I don’t think the problem is semantics. The problem is no one wants to think about sick or dying people, especially kids.

If we really want the world to care about rare, then we have to make rare diseases emotionally approachable and less scary.

Humor, I believe, is the best way to deal with the darkest and direst of circumstances.

So I’m going to do a standup routine about rare diseases. I’m calling it Rarely Funny.

Coming to an open mic soon…

[Gillian Sapia RN @GillianHSapia]

@eperlste “the great abandonment” 50 rare disease biologics abandoned since 2020 some have suggested IRA as a cause

https://t.co/oWMhzxV6fC

[Sandra Acosta @sacostav]

I have opened an FPI2022 available only for the candidates in te reserve list. I am currently going through the selection process. If you are interested in working at the forefront of brain organoids and epigenetics and live imaging in Dravet Syndrome (epilepsy) DM me please asap

[Veronica Hood @Science_Hood]

DSF has big #grant funding changes this year! Higher funding levels for our standing yearly grants and a special RFA for 2023 focused on genetics and phenotype of #Dravet. Applications due September 8.

[Dravet Syndrome Foundation @curedravet]

Did you know today is #DravetSyndromeAwarenessDay?

Sharing your story, inviting your community to visit our website, and hosting a fundraiser are all great ways that you can be a part of supporting our fight for a cure.

Learn more: https://t.co/ovEg7lHyjU

[𝐓𝐢𝐟𝐟𝐚𝐧𝐲 𝐊𝐚𝐢𝐫𝐨𝐬 @TiffanyKairos]

You learn how long 30 seconds really is when you're watching someone you love have a seizure.

#epilepsy #epilepsyawareness

[The Notorious EEG (M. Scott Perry MD) @TheNotoriousEEG]

🚨ATTN ADULT NEUROLOGISTS

We want you to join us at the @curedravet 2022 Family & Prof Conf in Ft Worth 🤠this summer to learn more about #Dravet and help us improve transition of care for adults with Dravet.

Apply by 4/8/22 for travel scholarships!

https://t.co/JKGJrNhTHT

[Veronica Hood @Science_Hood]

“In our view, all adults with refractory #epilepsy and #intellectualdisability of unknown cause should be suspected of having a possible genetic cause, including DS, and be offered #genetictesting.” Time to end the lifelong #diagnosticodyssey for patients. #dravet #raredisease

[Dravet Syndrome Foundation @curedravet]

We're looking for committed individuals for our Board of Directors who are passionate about finding a cure for #DravetSyndrome.

Learn more here: https://t.co/QUoafBXupl

[Stoke Therapeutics @StokeTx]

Stoke received MHRA authorization to initiate a Phase 1/2a study of STK-001 for the treatment of #Dravetsyndrome in the U.K. The study complements ongoing U.S. studies & marks the first step in global expansion of clinical development of STK-001. For more: https://t.co/qV5hnGsbLs

[Dravet Syndrome Foundation @curedravet]

We feel strongly that research is our best hope for advancing treatments and eventually finding a cure. Join the cause by participating in patient research or read up on some of the current research going on right now: https://t.co/IDYNpvbz6I #Dravet #DravetSyndrome

[The Notorious EEG (M. Scott Perry MD) @TheNotoriousEEG]

Excited that @CookChildrens Justin Neurosciences enrolled the first patients in Encoded Therapeutics #Envision observational natural history study for #Dravet. This study will inform the path for development of AAV therapy ETX101!

[BarabanLab @BarabanLab]

On Oct. 6th #Cronutt left his pool @sixflagsDK to embark on a journey that would change his life | recipient of the 1st #interneuron cell transplant treatment in the world, we now happily report Cronutt has been seizure-free for 90 consecutive days @CureEpilepsy @AmEpilepsySoc

[The Notorious EEG (M. Scott Perry MD) @TheNotoriousEEG]

Today is #SUDEPActionDay2020

No doctor ever forgets a patient lost to #SUDEP.

Here are two stories that stick with me and the lessons I learned...

[Ana Mingorance @CNSdrughunter]

June 23rd is #Dravet Syndrome Day.

A few days ago the first disease-targeting therapy for Dravet started clinical trials. If everything goes well, in June 25 FDA might approve fenfluramine.

Important days for many Dravet warriors 💜

[UK Medical Cannabis Alliance @mca__uk]

Very sad to hear #CharlotteFigi has passed away due to complications related to #COVID19.

Charlotte, who had Dravet syndrome, launched a movement that led to sweeping changes in #cannabis laws across the globe.

Our heart goes out to her family & friends.
https://t.co/sU5ZFRE1A5

[Jon Watts @jwattsgroup]

It is such an exciting time for our field. Here is the latest article about the impact of oligonucleotide therapeutics for patients. @umassmedrti @otsociety https://t.co/bEW9GIRO87 via @sciam

[Stephanie Fischer @RarePOV]

“What if we lifted up scientists and doctors the same way we lift up professional athletes? What if we supported the world’s best & brightest researchers working on the next breakthrough treatment?” #WeTackleRare #CareAboutRare https://t.co/et6LBkwVgV via @KIF1A & @UpliftingAth

[Gladstone Institutes @GladstoneInst]

Gladstone researchers are collaborating with @genentech to develop therapies for #Alzheimer's disease and Dravet syndrome. #SciComm
https://t.co/vLIUOVK18M