We came from as far as Columbia, New Zealand and Europe. Families from around the globe and the Jordan's Syndrome international research team were in one place for the first time, a milestone for all of us.

The first-ever family conference outside Washington, D.C., officially kicked off the study we believe will change the world. More than two dozen families impacted by Jordan's Syndrome were in attendance, and heard presentations from our researchers about the PPP2R5D mystery. Blood samples were also collected from children diagnosed with Jordan's Syndrome.

The conference, sponsored by Jordan's Guardian Angels, had three main goals:

  • Research: Enable research by collecting blood samples and completing questionnaires

  • Education: provide education to families on the gene and its impacts

  • Support: provide support to families by bringing them together

FamiliesPic-min
"Families got a chance to ask the questions that have been on their minds and got a better understanding of the genetic variation and its impacts."

Dr. Wendy Chung, lead medical investigator on the study, gave an overview presentation about PPP2R5D, followed by a panel discussion. Families got a chance to ask the questions that have been on their minds and got a better understanding of the genetic variation and its impacts.

Families also had opportunities to have one-on-one time with Dr. Chung and Dr. Ghayda Mirzaa, and had their children evaluated by them.

PPP2R5D Presentation

PPP2R5D Panel Discussion

On Saturday, booths were set up with experts available to provide information about autism, sensory disorders, anat baniel method, and assistive technology. Also on Saturday, Nancy De Orta, one of our parents, gave haricuts to some of the children. For some of them, it was their very first one! 

Renowed advocate and film producer Joey Travolta was a guest speaker and interviewed parents and collected footage for a documentary his company, Inclusion Films, produced about Jordan's Syndrome. The local FOX affiliate in Washington, D.C., came for a follow-up story to their original report featuring a local family.

We capped off the day with a private tour of the U.S. Capitol.

The conference brought us closer together than ever. Though we connect on Facebook every single day, many of us hadn't met before in person. Despite being from different parts of the world, our common bond is strong.

Perhaps more than anything, seeing the children play together and watching the connection they share was a powerful reminder of why our mission is so important.

Blood samples collected from the children are now at the New York Stem Cell Foundation, and are on their way to being converted into brain cells. Every step in this study is worth celebrating. We're on our way!

KidsHug

Published

August 7, 2017

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