Information, inspiration gained from Family Conference

The 2024 North American Kleefstra Syndrome Family Conference held this summer in Massachusetts proved to be an incredibly powerful gathering for the 250 attendees. The conference agenda included an intentional mix of learning, fun and opportunities for KS families to connect.

It was the first conference for Rabbi Ilan Glazer of Baltimore who was diagnosed with Kleefstra syndrome two years ago.

“Having previously only met one other person with Kleefstra syndrome, it was incredibly eye-opening to meet others, to make new friends, and to learn about the inspiring research being done by IDefine, Dr. Kleefstra, Dr. Sid, and others,” said Glazer. “I learned things that will benefit my own medical journey, and I am so grateful to have met many others in the Kleefstra community. I know that a Kleefstra diagnosis is helpful and comes with challenges – it was delightful to see so many kids and young adults with Kleefstra laughing, learning, and connecting with friends.”

Monica and Mike Christy of Michigan attended with their family, including 5-year-old daughter, Marissa, who has KS.

“We learned so much at the conference this year regarding KS and Marissa’s future as she grows,” said Monica. “We left feeling as motivated as ever and just validated in our struggles. Being with our KS family has been exactly what we needed. Seeing friends we made two years ago, as well as making new connections is something we look forward to every time we attend. In addition, the connections Marissa’s brother is making with all of the siblings his age I know will last him a lifetime.”

For many, a highlight was meeting Professor Tjiske Kleefstra, for whom KS is eponymously named, in person.

Throughout the conference, Professor Kleefstra could be found taking pictures and sharing meals with KS families.

“I’m always impressed with her,” said Pamela Peirce, who attended the conference with her daughter, Becky. “The first morning at breakfast by the toaster we met her and I was impressed she remembered Becky by her name. She also joined us at our table for dinner that night. We discussed my concerns over the aging process and how I felt it seemed to be moving faster. I mentioned concerns of a second regression. She was very kind in listening and understanding.”

In addition to the main presentations, this year’s conference included a popular “Caregiver Village” that gave families a chance to sign up for genetic counseling sessions, contribute to a biorepository collection and learn more about fundraising opportunities.

Zoe Frazier, a genetic counselor at Boston Children’s Hospital, met with 44 community members providing a better understanding of both the genetics of Kleefstra syndrome and their child’s specific EHMT1 variant.

“Although difficult topics were discussed, there was a pervasive feeling of joy, love, and optimism, said Frazier. “Being able to reconnect with families that I have met in clinic, through research protocols, over the phone, and/or at the 2022 North American Kleefstra Syndrome Family Conference in Naperville was the highlight of my year! Seeing a large portion of the community come together all because they love their children, wish to support each other, and are deeply devoted to bettering their child’s future was both motivating and very moving. I am so grateful to work with such a fantastic community.”

Biorepositories are essential for rare disease research because they provide a centralized location to collect, preserve, and distribute samples from patients. Simons Searchlight was at the conference to collect samples.

“We collected blood from 66 individuals at your conference and 26 of them were individuals with EHMT1,” Kaitlyn Singer, Simons Searchlight project manager. “Our team also fully registered 30 new families at the event, which is likely a new record for a single day event.”

If you are interested in participating in the biorepository, please email coordinator@simonssearchlight.org.

All in all, it was a magnificent few days of building the Kleefstra community through communication, collaboration, and comraderie.  As a team at IDefine and as a community at large, we feel inspired and hopeful for the future!