From the day Emilio was born we knew we were going on an adventure with him. Emilio was born on November 30, 2015 in an ambulance delivered by two amazing EMTs, Vicky & Terry from Chicago Fire Station 32 in the Clearing Neighborhood.

 

On March 27, 2017 we were informed that Emilio had been diagnosed with a rare genetic disorder known as Pitt-Hopkins Syndrome.

 

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delays, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal issues, lack of speech, and distinctive facial features. Since the gene that causes Pitt Hopkins was only found in 2007, currently there are approximately 550 people in the world diagnosed with this syndrome, however we believe there are many more. To learn more about Pitt Hopkins, please visit: www.pitthopkins.org

 

Today, Emilio is 2 years old and has a special team of therapists that provide physical therapy, developmental therapy, speech therapy, occupational therapy, aqua therapy and music therapy. Emilio is nearsighted and has astigmatism, and is currently wearing glasses to help him see. His glasses has helped development with his gross and fine motor skills. Emilio’s reaching and grasping has become more refined and coordinated. His eye-hand coordination is improving through container play, shape sorters, and puzzle pegs. He can rotate and pivot while lying on his stomach to reach for his toys that are nearby. Emilio can clap and bang two objects together. He has better head control, is able to pull to a sitting and standing position. Emilio is able to sit without support for a longer period of time. Due to Emilio’s low-muscle tone, he was evaluated and provided with a pair of SMO orthotics which help stabilize his ankles for standing and walking. He also has a gait trainer to assist him in a standing position and develop his walking skills. Emilio’s communication is limited but he is able to clap as we praise him, will push away objects he does not want, gives high-fives, hands over his pacifier on demand, attempts to wave bye-bye, and is currently exploring an Alternative and Augmentative Communication (AAC) device that helps expand his communication skills.