Juliana’s Rare Syndrome and the App That Brings Her Care Team Together 

For more than 26 years, Juliana and her mother, Ann, were unable to receive a diagnosis for a syndrome that affected many of Juliana’s body systems, despite multiple rounds of genetic testing. But after years of dealing with developmental delay, communication difficulties and more, Juliana was diagnosed with Kleefstra syndrome, a rare genetic condition that wasn’t officially recognized until 2010.
Now with the help of the MyOchsner app that allows Ann to communicate with Juliana’s many providers, and allows providers to collaborate with each other, this family’s been able to find their joy again.
For more information on pediatric genetics, please visit www.ochsner.or....
And if you’re interested in learning more about Kleefstra syndrome, in particular, and how you can help identify treatments and cures for Kleefstra and other intellectual disabilities, please visit / idefine.org .