Finding New Hope Through a Clinical Trial

When Kali Kurtz was about six months old, her parents, Krisha and Kraig, started to notice signs that their daughter may not be developing normally. At the age of 18 months, they received Kali’s diagnosis of Phelan-McDermid syndrome (PMS), a monogenic form of autism. “It was an emotional roller coaster for a little bit,” Krisha said. “But we then realized that Kali was still Kali, and the diagnosis wouldn’t change that.” Krisha and Kraig decided they would do everything they could to help Kali reach her goals, however difficult they may be.

Along the way, the most helpful thing for Kali has been attending the Premm Learning Center run through the Eastern Suffolk Boards of Cooperative Educational Services (BOCES). Krisha said, “This school has helped her more than we ever could have imagined.” The Kurtz family receives regular progress reports from the school showing how her skills continue to improve. The teachers and aides “are the biggest blessing we ever could have asked for,” added Krisha. The Kurtz family also finds great support in their families, and from the many people they have met through the website run by the Phelan-McDermid Syndrome Foundation for families affected by PMS.

At the Seaver Autism Center, Kali was involved in the clinical trial of Insulin-like Growth Factor-1. Some days were difficult “and it would get depressing writing down all the things that Kali couldn’t do,” Krisha explained. “But then I started realizing all the things she was capable of doing, and how these things increased over the course of the trial, and still now. We started with a little girl who couldn’t walk, who would bite us because she was so frustrated, who wouldn’t look at us. Now we have this little girl who walks, doesn’t bite, makes eye contact, laughs, giggles, gives hugs and kisses and is pretty much happy all the time!”

Krisha wrote to us, “We met so many great people and doctors at the Seaver Autism Center, all of whom I know had a genuine interest in and concern for Kali. It was such an honor to be involved in this trial.”