Congratulations to RARE-X Partner Organizations KdVS Foundation, Chelsea's Hope Lafora Children Research Fund, & LGS Foundation for being named 2022 #RAREis Global Advocate Grant Recipients! rareiscommunity.com/.../celebratin… #OwnIt #RareDisease

Our team is still recruiting for this trial.📽️ For more information about the trial you can watch this video! youtube.com/watch?v=lmYyEs…

Our very own KdVS advocate featured in Rarity Life! Check it out.

The KdVSF made it to $70K! If we meet our goal ($100K)we have a very generous donor who is willing to match $30K! Will you help us reach our goal? bit.ly/3ARaFpe #KdVSF #KdVSFoundation #KdVS #KoolendeVriesSyndrome #KoolKampaign #Fundraising #Research #RareDisease

Passing on a rare disease: a RARE mother’s journey from ‘blameless guilt’ to joy. rarerevolutionmagazine.com/passing-on-a-r…

A new publication from our team on 81 individuals with #KdVS. 'Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature'. Miya St John Murdoch Children's Research Institute (MCRI) Available here: rdcu.be/c1Q0a 🧵1/5

Most individuals with #KdVS were verbal (76.5%). Many minimally-verbal communicators used alternative and augmentative communication #AAC 🧵2/5

Speech was characterised by apraxia #CAS (63.9%) & #dysarthria (45.9%) in verbal participants with #KdVS. #Stuttering was described in 76.6% of verbal participants & followed a unique trajectory of late onset & fluctuating presence. 🧵3/5

Social competence, behavioural/emotional control, & coping skills were areas of relative strength for individuals with #KdVS. Communication difficulties impacted daily living skills as an area of comparative difficulty. 🧵4/5

#KdVS individuals make communication gains beyond childhood & should continue to access targeted therapies throughout development. Read the article here: rdcu.be/c1Q0a 🧵5/5

Check out this commercial about KdVS. It’s based on a true story of friendships made through KdVS. #KdVS #KoolendeVriesSyndrome #raredisease When You're Connected, You're Not Alone youtu.be/2F6J7mZEoWs via YouTube

\#ShineYourSearchlight✨ Not enough is known about Koolen-de Vries Syndrome. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to SimonsSearchlight.org to sign up for FREE! #KdVS #KoolendeVriesSyndrome #KdVSFoundation

Becoming a Rare Role Model bit.ly/3XdYeMo #KoolenDeVries #KoolenDeVriesSyndrome Thrive Rare KdVS Foundation

KdVSF and CURE Epilepsy announce a one-year $100,000 Rare Epilepsy Partnership Award to Hans van Bokhoven! kdvsfoundation.org/the-koolen-de-… \#KdVS #KdVSF #KoolendeVriesSyndrome #KdVSFoundation #RareEpilepsy #CUREEpilepsy #Grant

We are honored to be selected for Dr. Hans van Bokhoven’s work into KdVS. #KdVS

We were honored to be included among the rock star patient advocacy groups. Together with St Jude Children’s we will do great things!

We awarded a Grant to Dr. Esmat Fathi at St. Jude Children's Research Hospital. Under the mentorship of Dr. Heather Mefford, Dr. Fathi will spend the next 12-18 months investigating molecular strategies to increase expression of _KANSL1. kdvsfoundation.org/kdvs-foundatio…

A new study led by MCRI and University of Melbourne researchers has discovered a link between a new gene pathway and structural brain anomalies in some people who stutter into adulthood. #stuttering #brain geneticsofspeech.org.au/our-news/news/…

Looking for a way to use your #GrantWriting skills to help a small #RareDisease nonprofit? Contact the @kdvsfoundation today! They are based in Wilmington, NC and looking for a volunteer grants officer. Learn more and apply here: kdvsfoundation.org/volunteering/ #KdVS

Did you learn something new about KdVS on this podcast?