Grab a cup of hot tea and a cozy blanket for this intimate conversation with Australian CASK mum, Louis Konz. Mother to sixteen year old Bethany who received her diagnosis “later” in life, Louis eloquently shares her journey in motherhood where she learns to take Beth’s pace in life. Her warmth, wisdom and resilience are a comfort to the soul. We hope you enjoy this conversation as much as we did! The Hanon Program - https://www.hanen.org/programs/it-takes-two-to-talk Project CASK Studies - https://www.projectcask.org/studies REGISTER with Project CASK - https://www.projectcask.org/register [email protected] Social media - @ProjectCASK

Join in this collective community effort and honor our fathers and father figures, who support us and our families on this CASK journey.

Our special guest today is Stefanie Trask, mama to the absolutely adorable Ellie and the sweetest big brother, Bo. Lately, we’ve had many questions from newly diagnosed parents about intensive therapies, and we’ve seen an expansion in the types of therapies and the places our CASK families are going for intensives. So, we thought it would be helpful to dedicate an episode to exploring intensive therapy! Among the many places, two of the most popular within our community are the NAPA Centre, and the Neuromotor Research Clinic at the Fralin Biomedical Research Institute at Virginia Tech. In the last year, Ellie has been to both NAPA and Virginia Tech, so we thought Stefanie would be an incredible resource to have on the podcast to share about these two therapies. She is also a master fundraiser, so we hope she can share some tips on how she has raised resources for Ellie to be able to attend these therapies. . . . Check out our For Families - Intensive Therapies resource page for more intensive therapy centers Follow us on social at @ProjectCASK [email protected] www.projectcask.org

In this episode, Hitomi highlights Project CASK’s two exciting new partnerships — the Rare Disease Translational Center at Jackson Laboratory and Combined Brain — and the opportunities they open for the CASK community. There are some really exciting things in the pipeline with these two and you’re not gonna want to miss out! There’s a refresher on the status of the grants program and the epilepsy study, and a look ahead at what’s in store in the next few months! Listen, like and share, and let us know what questions you have. We’d love to hear from you! 🎙️🦄🦁💞 #projectcask #theroar #caskresearch #caskgene #curecask #glitterandroar #rareasunicorns #strongaslions 

On this episode of The ROAR, we are thrilled to share the news of an upcoming epilepsy and seizure study! This study titled, “Identifying biomarkers for epilepsy in patients with CASK associated pathogenic variants” will be led by Dr. Asim Shahid, Cornell/NY Presbyterian Hospital, in partnership with and partially funded by Project CASK.  We are not currently recruiting participants for the study. Once IRB approval is received in (hopefully) one month, active recruitment will begin! Stay tuned for more information about how US families can get involved in this exciting research.  Be sure to sign up for our newsletter and feel free to reach out to us at [email protected]! #epilepsyresearch #caskgene #rareasunicorns #strongaslions #TheROAR #ProjectCASK

We’ve launched our first Request for Applications (RFA)! What’s in it and what’s next? Check out this message from Hitomi Kubo of Project CASK, breaking down the basics of this exciting new step in our collective journey to kick CASK! ***** Project CASK has launched its first Request for Applications, building on the discussion at the CASK Think Tank on 4 December 2023. Managed in collaboration with the Orphan Disease Center, University of Pennsylvania, we are seeking proposals that will make a significant impact on the CASK community and accelerate our path to effective therapeutics for CASK gene disorders in one of two categories: Seed grants of up to $50,000 for 12 months: These grants will support studies to better understand CASK gene disorders and/or support clinical studies. Proposals should respond to key gaps in the knowledge of or research assets for CASK disorders that are critical to the pursuit of therapeutic development, including future clinical trials. Translational grants of up to $250,000 for 24 months: These grants will drive forward translational research from drug repurposing and small molecules to gene therapies including forward-looking approaches to address current limitations specific to the CASK gene, RNA editing or other RNA based approaches, and novel techniques for x-linked neurological disorders.

This week we talk with neurologist Dr. Laurie Seltzer, registerd dietitian Leean Habben, and CASK gene mama Christine Phillips regarding the ketogenic diet, and it's positive impact on epilepsy! Don't miss the updates on our new project; Project CASK! CASK family, we are delighted to be back on the podcast with you, I know it has been a while since we’ve dropped any episodes and for good reason! By now you may have seen that we have launched an innovative rare disease non-profit; Project CASK, driving breakthroughs for treatments and a cure for CASK gene disorders and we have hit the ground running. We have an amazing team of CASK moms and dads, extended family and trusted advisors working on our boards. We feel incredibly blessed to have these leaders and our community. A few highlights of our progress in these last three months include Project CASK’s partnership with the Orphan Disease Center, with whom we will be co-hosting the first ever multi-disciplinary global meeting on CASK - the CASK Think Tank. We’ve also released our motto; Rare as Unicorns, Strong as Lions, and our spirit animal, the Liocorn (part unicorn, part lion); who is a lot of glitter and a lot of roar, just like our children. We have also begun to gather artists for the Ultra Rare Collection… but more on that later! For now, let’s get to our interview with neurologist Dr. Laurie Seltzer, registered dietician Leeann Habben, and CASK mama Christine Phillips!

This week we have CASK mamas Rachel Alves, Amanda Ruebusch and Alexis Taylor. These three mamas did something probably most of us dream about but don’t manage to do. They attended a weekend retreat for mothers of children with disabilities hosted by non profit, We Are Brave Together, and they’re here to tell us about it!

Today our special guest parent is Christine Phillips, mama to Emmy and Andy…  Being such a small community, it’s probably the case that our children are all unique. But in that sea of originality, little Emmy is a truly rare gem, having been born with both spina bifida and a cask gene mutation. In this episode, we cover quite a few topics. From dual diagnosis, to recognizing unusual seizure presentation, g-tubes, keto and a blended diet, ableism, and creating an environment rich for our children's unique needs! We are incredibly thankful to have Christine share with all of us; she is a true warrior mama! You can follow Christine and Emmy's story on Instagram at @emeliasstory

Today, June 18th, we celebrate Father’s Day in Chile, France, Ireland, Lebanon, the Netherlands, Nigeria, the Philippines, Russia, the United Kingdom, the United States and so many other countries across the world. It is a day dedicated to the fathers and father figures in our lives. A day to acknowledge the ways in which they make our days and our worlds just a bit better. For this Father’s Day, we invited the members of our community to share a message of appreciation for their CASK dads. In our outreach for this episode, we saw of glimpse of how many of our families are delicately and perhaps precariously balancing home, hospital, therapy, other children and work. Sometimes it is the perfectly timed joke or the offer to take the night shift. Maybe it’s the positive outlook, the knowing glance or the long hard days at work providing for the family’s needs. Whatever it might be, our dads are an instrumental part of making this CASK journey work. We hope you enjoy this special episode of the Project CASK podcast, a compilation of messages from the CASK community across the world in celebration of Father’s Day.