Hiroki Jacob Lawrence was born February 2, 2010. Hiroki’s life was challenged from the start. He spent the first 10 days of his life in NICU (Neonatal Intensive Care Unit). Within the first year of his life, he missed most to all of the normal milestones that neurotypical babies reach. Due the loving and persistent care of his mother, who pushed for additional therapies and genetic testing, it was discovered that Hiroki was 1 of 1,300 people born worldwide with Phelan McDermid Syndrome (PMS).

PMS is a rare genetic disorder caused by a deletion on the 22nd chromosome. This deletion, for Hiroki, means he is missing 43 genes on the 22nd chromosome. The most prevalent missing gene is the SHANK3 gene which is connected to profound cognitive developmental delays, severe speech deficits and autism spectrum disorder. There are a myriad of diagnoses associated with PMS and they vary greatly with the type and size of the chromosome deletion.

For Hiroki, he has low muscle tone (hypotonia), autism, epilepsy, grey matter heterotopia and lymphedema as his formal diagnosis. It took years of intensive OT and PT for Hiroki to be able to walk and perform basic tasks, such as using two hands to hold or carry an object. Despite extensive speech therapy, Hiroki cannot talk and still requires diapers. Seizures have been a prevalent part of his life, including grand mal seizures, which can be life-threatening. Doctors were not able to get Hiroki’s grand mal seizures under control with pharmaceutical medications alone. At one point, after a prolonged grand mal seizure that his rescue meds could not stop, he was asleep in the hospital for over 36 hours and the word "coma" began to come into conversation. It was not until medical marijuana became legal in MN and Hiroki was administered the medical marijuana in conjunction with pharmaceutical medications that his seizures were under control.

Hiroki is now 16 years old and he has made tremendous strides in so many areas. He is able to walk and he is always on the move! He has a beautiful smile and an infectious laugh. Despite his strong autism, he is still an affectionate and loving boy. As his parents, we have worked tirelessly to expand his world but the reality is he will need full time care for the duration of his life, which is true for most people with Phelan McDermid Syndrome. As Hiroki approaches adulthood, we need to prepare for his long-term future as we seek to give him the fullest life he can possibly experience.