New Resource for Your Doctors, Guidelines Update, and Welcoming Elizabeth! The Kabuki Syndrome Collective
This is the May edition of The Kabuki Syndrome Collective, the Kabuki Syndrome Foundation’s newsletter for our global community. Sign up below to receive future editions in your inbox.
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Together, we’re making progress that matters. From advancing research to strengthening connections and care across our global community, here’s what’s new this month:
New Resource to Share with Your Healthcare Team
The Kabuki Syndrome Foundation (KSF) is proud to share our new Quick Start Guide for Researchers and Clinicians! This resource is designed to help healthcare providers better understand Kabuki syndrome and support more evidence-based care around the world.
Families are encouraged to share this practical guide with their doctors, therapists, and other providers to help increase knowledge, improve communication, and strengthen care coordination.
By helping families, researchers, and clinicians work together, we are building a stronger and more connected global Kabuki syndrome community.
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8,856 Votes Closer to Global Guidelines
One year ago, the Kabuki Syndrome Foundation co-hosted the Clinical Management Guidelines Consensus Meeting, bringing together more than 40 clinicians and 11 community representatives from around the world to help shape the future of care for people with Kabuki syndrome.
Today, we’re excited to share an incredible milestone. These guidelines are being designed to help healthcare professionals better diagnose, treat, and support people with Kabuki syndrome at every age and stage of life, while helping standardize care and strengthen readiness for future clinical trials.
To summarize our progress:
- Ahead of the meeting last year, more than 6,500 publications were reviewed and narrowed to 236 for expert review, forming the evidence base for discussions at the consensus meeting.
- Conversations with families and experts at the meeting shaped and expanded the recommendations.
- Now, participants have completed a final vote on these recommendations. 50 international contributors, including medical providers and families, cast 8,856 votes across the recommendation set, with strong consensus reached on most recommendations.
The next step is to continue drafting and then submit the Clinical Management Guidelines for publication in a medical journal, a process expected to take 6–12 months. After publication, we look forward to broadly distributing and sharing an easy-to-read summary with the Kabuki syndrome community.
Thank you to every clinician, researcher, volunteer, and family member helping move this important work forward!
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Welcome Elizabeth to Team KSF!
We are thrilled to welcome our new Development and Marketing Manager, Elizabeth Tietjen. Elizabeth has more than 15 years of non-profit experience and is a Kabuki syndrome mom herself. She looks forward to advancing research and treatments for Kabuki syndrome, and to meeting all the wonderful folks who make up our global community!
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Global Community Calendar
June 27
Kabuki UK’s Family Day – Warwickshire, England
July 11
Kabuki Karnival – Mukwonago, Wisconsin, US
August 28-30
Kabukiföreningen Skandinavien Family Day – Växjö, Sweden
Save these dates:
July 16
KSF Virtual Webinar for Families – details coming soon!
July 18
PNW Kabuki Syndrome Family Picnic – Seattle, Washington, US
Oct. 23
Kabuki Syndrome Awareness Day – Worldwide
Nov. 16
KSF Quest for a Cure Gala – New York, New York, US
Do you have an upcoming event for Kabuki syndrome families? Let us know!
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Thank you for being here and creating brighter futures with us.
If you have any questions, please contact us. We’d love to hear from you.