CASK Gene Foundation

🎉 Exciting News! 🎉

We will soon be posting the video of this year's random drawing for CASK Family Scholarships. There are two categories this year:

🏆 4 $500 Scholarships
🏆 1 $2500 Intensive Therapy Assistance Scholarship

If your application was submitted before January 31, 2025, and found eligible, you should now have an email with your letter or number for this drawing. 📧

If you didn't get a chance to apply for these random drawing categories, you can still apply for financial assistance! The CASK Family Scholarship is now open year-round for waitlisted assistance. 🌟

👉 Apply now at caskgene.org/scholarships

Happy Rare Disease Day!

Want to know how rare CASK is? As of today, there are 337 cases across 46 countries which have been reported in the official CASK Registry.

Enter or update your CASK case into the global CASK Registry ROLL CALL form and help make our collective voices louder. Let’s make the world hear our cause and know that this is a big enough problem to warrant better funding for research and treatments, and better insurance coverage for our CASK-specific needs!

Visit caskregistry.org to read more about the CASK Registry, or
Head to caskgene.org/register to jump straight to the form!

How many cases do you think will be reported by March 15? Comment below with your guesses!

🌟 Meet Catalina! 🌟
Cata is a bundle of joy and energy! She lights up every room with her infectious smile and boundless enthusiasm. She loves playing with other children. Her eagerness to make friends and her cheerful demeanor make her a joy to be around.

She loves:
- Music & Dancing: Cata loves to groove to her favorite tunes and can often be found dancing around the house.
- Water Play: Whether it's paddling at the lake or splashing in the pool, Cata is happiest when she's in the water.
- Active Games: Jumping on the bed, running, climbing, and bike rides are just a few of the activities that keep her moving.
- Nature: She enjoys spending time outdoors, exploring and soaking in the beauty of nature.
- Books: Like her older brother, Cata adores books and loves being read to.

Cata faces the challenge of living with a CASK gene mutation, which affects her motor skills, as well as her intellectual and language development. Her family's goal is to provide her with the tools she needs to achieve the greatest possible independence.

Her greatest helps include:
- Physical Therapy: This has been crucial in helping Cata develop and refine her movements, enabling her to walk, jump, and climb.
- Occupational Therapy: It has improved the mobility and ability of her left side, enhancing her fine motor skills.
- Speech Therapy: This helps Cata incorporate new words and improve her pronunciation, contributing to her overall comprehension.
- Music & Audiovisual Materials: These have played a significant role in her stimulation and development.

Like CASK Gene Foundation, Cata's family is dedicated to improving the lives of all those affected by CASK-related disorders. Cata's fundraiser supports the following priorities:
10% to the general fund
40% to CASK research
40% toward education and awareness
10% to family support programs

Join us in supporting kids like Cata to shine even brighter! 🌟
Text 4CASK27 to 71777 or visit fundraise.givesmart.com/vf/4CASK/team/Cata

visit caskgene.org/gallery/faces to add your own CASK warrior or angel to our gallery

The CASK Registry natural history study is taking a deep dive into some amazing eyes! This focused portion of the study is being conducted by Konark Mukherjee, Ph.D., MBBS, in partnership with CASK Gene Foundation (CGF), using de-identified data gathered and curated by CGF. Access to enrollment and participation in this study will is available through our CASK Gene Matrix patient portal.

To request access to this and other studies currently being conducted or hosted by CGF, submit a new or updated registration form, and check the box for the CASK Gene Matrix patient portal.

Register now at caskgene.org/register
or learn more about the CASK Registry natural history study at caskregistry.org

🎉 You did it! 🎉

We were aiming for at least 30 CASK cases in the Citizen Health system by November 30, so that all CASK researchers and researching foundations could have access to this valuable real-world data in the first batch of data being delivered 2025. 📊

The dashboard is showing 40 completed ✅, and as long as at least 25 of those were set up sufficiently for Citizen Health to gather their records, then CASK will be included! 🧬

The recruitment challenge is over, and the sweepstakes window closed, but you are still welcome to sign up for this helpful service at any time. 📝

🌐 citizen.health/partners/caskgene

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