As a toddler, LillyBeth was not meeting her developmental milestones, so her parents sought her primary care doctor’s advice. LillyBeth began various therapies including speech therapy and occupational therapy, but eventually was brought to Nationwide Children’s Hospital Behavioral Health Psychiatry Child Development Center for additional evaluation. There, she was seen for mixed receptive language disorder and articulation disorder. Then, LillyBeth was diagnosed with global developmental delay and received speech, occupational, and physical therapies at Nationwide Children’s as well as in school. 

In order to understand the cause of these diagnoses, LillyBeth underwent genetic testing. Mari Mori, MD, MS, clinical geneticist, and biochemical geneticist in the Division of Genetic & Genomic Medicine worked with LillyBeth to test her for an IDEA panel (intellectual disability, epilepsy, and autism). Several weeks later LillyBeth’s results came back. She had an extremely rare genetic condition called Dias-Logan syndrome. There is very little known about Dias-Logan syndrome and currently no known treatments, having only been discovered four years prior to LillyBeth’s testing.  

In the four years since her diagnosis, LillyBeth has been thriving. She continues speech therapy and is doing great in school. She even won Student of the Month in April.  

“While her future progress is still unknown, we have high hopes that she will overcome and conquer any obstacles that come her way,” shares LillyBeth’s mom, Lori.  

LillyBeth enjoys painting, coloring, and making bracelets. She also loves playing volleyball and going to Kings Island and Columbus Clipper games.