Connections, information gained from Family Conference

“Each Kleefstra Syndrome child and parent is different, but we all have so much in common that the rest of the world cannot really understand. Being together in-person with our collective KS family is so joyful and so educational.”

With those words, Margo Metzger of North Carolina summed up the collective sentiment of attendees at IDefine’s first in-person North American Kleefstra Syndrome Family Conference, “Living in Holland,” held June 23-25 in Naperville, Illinois. Metzger, co-director of IDefine communications, attended the conference with her 9-year-old daughter, Adelind.  

The event, which welcomed 120 adults and 80 children (see Sib Shop article below), offered many families their first opportunity to meet other KS families in person.

Nicole Sagan and Frank Aguila of Michigan registered for the conference after their 1-year-old son, Dominic, was diagnosed with KS. “

“To actually meet and hug people going through the exact same thing was important,” said Sagan. “It’s easy to meet people over the internet in that sense, but to physically have a connection makes it more real and meaningful. I also got a new sense of not being alone in all of this, because you can see the other kids similar to our own.”


Special attention given to KS siblings

Children with Kleefstra Syndrome often require special attention, but at the 2022 North American Family Conference brothers and sisters of kids with KS had a program just for them called Sib Shop. Sib Shops give kids whose siblings have special needs the opportunity to meet and talk about the good and the challenging parts of their situations.

Jamie Hazlett of Nebraska, whose 10-year-old daughter Evie has KS, became certified to run Sib Shops six years ago, but this was her first. She took the Sib Shop course for her now 15-year-old son, Miles.

“Miles is a great big brother and he's super, super supportive, but I've always worried about him feeling left out or feeling like he can't share how he really feels with us,” said Hazlett. “And so, I knew that I wanted to facilitate ways for him and other siblings to be connect on stuff like that.”

Congratulations Dr. Britt Mossink!

We are thrilled to share that Britt Mossink has won the Dutch Neurofederation Thesis Prize 2022 for her thesis: "The cell-type specific contribution of EHMT1 to neuronal network dysfunction in Kleefstra syndrome."

Britt was a PhD student in the lab of Dr. Nael Nadif Kasri, an IDefine SAB member and close collaborator of our efforts.  

The jury recognized that the approach in studying human neurons using electrophysiological and molecular tools in a system preserving the connectivity was extremely powerful and uncovered various new aspects of the mutation with the underlying complexity of the disease.  Amazing!

Watch Dr. Britt Mossink's presentation in our "It Takes A Village" series below! 


Quick Clips on Kleefstra

  • New Webpage: Boston Children's Hospital has now launched a new webpage for the Kleefstra Syndrome Clinic. Check it out! 

  • Kleefstra Syndrome Awareness Day: MARK YOUR CALENDAR!  This year, OUR DAY, September 17th, falls on a Saturday!  It's a great opportunity to raise awareness and solicit funding to further our efforts.  Are you interested in hosting an event to accelerate our research efforts and mission?  Donate below or reach out to us today...let's #BuildABrighterFuture!

  • Get Involved: IDefine is always eager to strengthen our team!  Are you interested in doing your part to help push our initiatives forward?  Reach out today!


IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309

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