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2023

15 families affected by Kabuki syndrome gathered on Saturday, August 12th! Old and new friends from Washington, Oregon, and California, met in the shade at sunny Lake Washington. After breakfast and time at the playground, Jessica led games with all the kids - those with Kabuki syndrome and their siblings - while the parents gathered to share their greatest wins and challenges during the past year. Families were able to share their stories and great tips to help those going through new experiences.

 

After lunch, Jessica and Amanda provided a research update from the Kabuki Syndrome Foundation (KSF). Jessica simplified the science to show how gene mutations cause symptoms and how together, we can find treatments. They answered questions about current treatments being studied and how our community + KSF can find them faster. All families are invited to sign up with KSF for updates and encouraged to donate as able. Rare disease treatments are found by motivated, organized patient advocacy groups like ours! 

 

Thank you all for sharing your Saturday and stories. Your questions and suggestions are always welcome as we plan future events. 

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In June of 2023, eight families met at a park in Renton, Washington for a few hours of connection and play. Two newly diagnosed families were able to meet others with Kabuki syndrome for the first time. Connections with those who understand are so valuable, and even more so when they are local and in-person.

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We look forward to seeing you this fall. Stay tuned! 

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PNW events are made possible by volunteers. We are not a nonprofit organization.

Separately, Jessica and Amanda are part of the team at the Kabuki Syndrome Foundation, a registered 501c3.

2022

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On Saturday, August 13th, 10 families were able to enjoy a beautiful day at Coulon Park on Lake Washington in Renton, WA. New friends were made, and old friends were able to catch up. We are all excited about meeting up more often! 

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Introductions were shared over a light breakfast. Families had traveled from near and as far as Portland and Spokane. We then facilitated an activity for the kids and young adults with Kabuki syndrome, while the parents were able to video chat with Dr. Hans Bjornsson and learn about a research opportunity.

 

For those with Kabuki syndrome, Jessica led a fun ice breaker to warm up the group. Then during several rounds of bingo, the kids and young adults took turns leading by being the caller. Winners excitedly showed off their cash and candy prizes to their families. Thank you Jessica, for facilitating this awesome activity! 

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Simulatanously, the adults connected with Dr. Bjornsson via zoom. He is one of the top researchers on Kabuki syndrome and is actively conducting mulitple research projects. One project is studying the fingerprints of people with Kabuki syndrome to determine if they can be used as a diagnostic tool. Amanda used a small digitial scanner to anonymously collect the fingerprints of participants. Dr. Bjornsson joined us from Iceland, and he also conducts his research at Johns Hopkins in Baltimore. As the outreach coordinator of Kabuki Syndrome Foundation, Amanda facilitated this collaboration in research.

 

The group then came back together to share their greatest challenges and triumphs of the last year and eat lunch. After a group photo, everyone enjoyed playing, socializing, and sharing ideas for several future get togethers. 

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The Kabuki Syndrome Foundation sponsored breakfast and the location this year. Additional donations enabled us to also serve lunch and keep this event free to families. Thank you to our dedicated donors! 

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2019

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August 2019 Schedule

FRIDAY

24th

SATURDAY

25th

SUNDAY

23rd

6:00 PM

Meet & Greet at Meadow Crest Playground in Renton

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8:00 PM

Dads' Night Out in Downtown Renton

9:00 AM

Registration Opens

Children Check-In to Childcare

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10:00 AM

Welcome & Meet the Families


Washington ABLE, Chris Gagnon

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11:00 - 11:15 Break
 

11:15 AM

Angie Serrano, Researcher

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Noon

Childcare Ends

Lunch (Provided)

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1:00 PM​

Miss Danielle, BrainDance 

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SibShops & Kabuki Jeopardy
hosted by Zac, Audrey, and Amy

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2:00 PM​

Raffle & Closing

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6:00 PM 

Moms' Night Out

10:00 AM

Tukwila Family

Fun Center

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Noon

Meet for lunch at our reserved tables. Look for the green balloons!

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Thanks to our generous donors, this conference was free for families to attend.

Below, please see a summary of the weekend and how your contributions made a big impact. Thank you.

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The 2019 Pacific Northwest Kabuki Syndrome Conference weekend kicked off on Friday, August 23rd at Meadow Crest Park in Renton, Washington. This accessible park is fun for all ages and a great place to meet new friends. The dads and male caregivers then headed to downtown Renton for a guys' night. They ate at a local spot and then headed to a vintage arcade. (No pictures were taken, but the mom who is writing this hears they had a really good time.) Saturday night after the conference, the moms had their chance to go out and relax over a no-host meal and had great conversation. On Sunday, families still in town met at the Family Fun Center in Tukwila. Between rounds of mini-golf and laps around the racetrack, families and new friends made memories and said goodbye for now.

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On Saturday, August 24th fifteen families impacted by Kabuki syndrome gathered at the Embassy Suites in Tukwila. Some traveled from as far away as southern California and Alaska, and several were from Washington state. Thanks to All Things Kabuki, each family was provided with a folder that included shareable information about Kabuki syndrome.

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We started the day by having each family introduce themselves, which helped foster sharing our stories throughout the day. Children could be checked in to the childcare room before the conference began, and activities for teens were also provided. All kids were welcome in the conference at any time.

 

Chris Gagnon, from Washington ABLE, provided an excellent overview of the ABLE program. The qualifications and processes are similar (if not the same) for many states. This newer law and savings program enables individuals with a disability to save for their futures without impacting their eligibility for assistance. Living with a disability costs more; we are thankful to those who recognized that fact and enabled the passing of this bill.

 

We then heard from Angie Serrano. Angie is a postdoctoral fellow in the Joseph Yost Lab at the University of Utah. She received a two-year grant from the American Heart Association to study the KMT2D mutation in Kabuki syndrome zebrafish. The first phase of her research focused on the cardiovascular component. She is currently focusing on the neurological aspects, not only in zebrafish but also in human cells. She gave us an excellent understanding of how fish models can be utilized and the potential applications for families. The Kabuki syndrome community is lucky to have Angie, who is a compassionate, clear communicator on top of being an admirable scientist.

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The conference then broke for lunch and childcare ended.

Families were invited to have a family photo taken by our volunteer professional photographer. We then took a photo of the whole group! (Photos are being processed and will be shared via email when available.) Then Miss Danielle of Spotlight Dance in Renton, Washington, shared a bit about BrainDance and invited all the kids to participate in a short routine! This is a multi-sensory activity that benefits young and old and is a great way to start the day or switch gears. Many examples can be found on YouTube. The kids (and adults) really seemed to enjoy circling up together and participating.

 

Our final presentation was from a Washington family, led by siblings Zac (who has Kabuki syndrome) and Audrey and mom Amy. Audrey talked about the positive impact SibShops can have on the siblings of individuals with medical conditions and gave some examples from her time in the program. The group then divided the audience into teams and led Kabuki Jeopardy! This was a fun way to learn about Kabuki syndrome and everyone was able to participate. Thank you for volunteering, Zac, Audrey, and Amy! 

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The winners of the raffle items were then drawn. Items included a signed Seahawks football,

an inspirational book written by a fellow Kabuki syndrome mom, a handmade growth chart, and several themed baskets.

Thank you to those who donated items and to all who purchased tickets to help offset the cost of the conference!

Registration was free for families and lunch was provided.

We rely on fundraising and appreciate any donations.

Thank you for your support!

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