Emma is three years old. She loves music and dancing. She goes to preschool and ballet and enjoys being around other children. Mentally and emotionally, Emma is just like any other 3 year old; however, she cannot walk, talk, crawl, or voluntarily use many of her muscles. She has involuntary muscle spasms and Parkinson-like tremors. She uses a wheelchair and an eye gaze communication device to talk to others, but she only has to raise her eyebrows to say “yes” to mommy and daddy. She has a feeding tube because she cannot consistently swallow safely.

Emma was born in 2019, full term with no complications. She had feeding difficulties early on, but we did not think much of it, being first time parents. She started missing milestones around 2 months old and started early intervention therapies at 4 months old. At that point, we were still being told by her doctors that she was just a little delayed. Around 9 months old, she had her first brain MRI and EEG, which both returned normal. By this time, her doctors were wanting to diagnose her with Cerebral Palsy, even though she had no obvious brain damage. We sought out second and third opinions, until we eventually found a Developmental Pediatrician who thought she knew the cause of Emma’s delays. She ordered a genetic panel that happened to test for a group of neurotransmitter disorders. When we received the results, we discovered that she had DTDS, a sister disease to the one we initially thought. We were told there was very little information about DTDS and none of her doctors had ever heard of it, nor had any of the doctors that we reached out to after her diagnosis. We started a Facebook group for parents and have found a handful of children around the world that have been diagnosed. We want to work with researchers to find a cure or at least a better treatment, so that she can continue pursuing her passions and have a longer life.