Thea loves music, books, water play, cuddles and bouncing on the trampoline. She is the happiest and most easy going kid we know, and she fills our family with joy.  When Thea was about 4 months old we noticed that she was not doing things her older siblings did around the same age - she was not interested in toys and was not using the left side of her body. Shortly after that she started having myoclonic jerks so we took her to the hospital and the testing started, including an MRI, lumbar puncture and blood tests. She was diagnosed with MEF2C haploinsufficiency (MCHS) at around 8 months old caused by the deletion of around 60kb from 5q14.3. Although a small deletion, given the importance of the MEF2C gene for the proper functioning of other genes, the impact on Thea's cognitive and physical abilities is substantial. Given the extremely rare nature of Thea’s condition and limited information available about MCHS, we spent the first few days and months educating ourselves and trying to figure out next steps. Thea requires significant assistance with most things due to her global developmental delay - for example, she does not have any expressive language skills,  needs close supervision when walking given her inability to navigate different surfaces and heights,  cannot independently use stairs and needs assistance with self feeding.   We are doing all we can to help Thea reach her potential through multiple therapies. We hope that through advances in medical research Thea will be able to do many of the simple of things that most people take for granted.