Eli’s Story

We are a family of four. My husband Scott and I have been married for 16 years; we have a 14 year old son, Blake and 9 year old son, Eli (PTHS). We live in Baldwin City, KS.

On June 27th, 2003, Elijah James was born. When Eli was 6 months old he wasn’t sitting up on his own. We visited two neurologists and their only conclusion was that Eli had hypotonia. They couldn’t tell us why or give any diagnosis. So, we proceeded to enroll Eli in the Infant/Toddler services which allowed us to work with a Physical Therapist, an Occupational Therapist, a Speech Therapist, a dietician and an Early Childhood development teacher. By 15 months Eli could sit up by himself. Eli’s hearing improved dramatically once tubes were inserted 18 months. By 2 Eli was weight bearing and could take steps with support. By 2 ½ he started crawling on all fours. He got his first pair of glasses when he was nearly 3 and had surgery in November 2006 to correct strabismus. By 3 1/2 Eli could crawl everywhere and walked with support. By 4 ½, Eli could take over 30 independent steps. After going gluten and casein free, Eli became more aware of his environment and wanted to be engaged with our family and his friends. In addition to traditional therapy, Eli also participated in Hippo Therapy, Interactive Metronome Therapy and Mom facilitated Aqua Therapy.

In 2006, a developmental pediatrician suggested genetic testing. In November 2010, we decided to proceed with the genetic tests and the result: Pitt Hopkins Syndrome. The Microarray test wasn’t developed until 2007. So, had we done the testing in 2006, we wouldn’t have received the diagnosis for Eli. Eli’s pictures represent PTHS on genereviews.org. Eli is transitioning to a new school this fall and will be in the 3rd grade. He now practically runs, he is racing down the halls on his bike (with little assistance), and can now choose and communicate his desires quite effectively (though mostly non-verbal). Eli is a little boy who is changing the world by challenging those who take the time to know him to be more compassionate.

“To have compassion isn’t the same thing as sympathy or pity. Pity will break your heart; compassion will open it.”

~Didi Ananda Ruchira