Hi, I'm Rylie
We are Jack and Heather of Pennsylvania – two very proud parents of a growing girl who was diagnosed with Pitt Hopkins Syndrome when she was just 6 months old. Rylie was born on April 3, 2009 and was immediately moved into the Neonatal Intensive Care Unit (NICU) for ten long days due to poor oxygenation.
We learned that when she was born she had a spontaneous pneumothorax in her right lung and a hole in her heart. Both resolved without any surgical intervention. During her NICU stay, she was treated with IV antibiotics for possible pneumonia. Finally off oxygen, she was able to come home. On the day she was discharged, she failed her newborn hearing screening. Follow up testing with an audiologist revealed that Rylie had severe bilateral sensorineural hearing loss and required hearing aids.
At her 5 month visit, we expressed concerns to Rylie’s pediatrician about her development. She was not grabbing for toys or weight bearing on her legs. Her pediatrician agreed to genetic testing. After consultations with geneticists at the Children’s Hospital of Philadelphia, it was confirmed that Rylie had a rare chromosomal disorder known as Pitt Hopkins Syndrome. The geneticists had no useful information for us aside from worst case scenarios.
Our hearts broke as we stared at our little girl sitting in the car seat across from us; the one for which we had so many hopes and dreams. In an effort to help Rylie reach her fullest potential, we immediately contacted our early intervention program and started her with every therapy including PT, OT, speech, hearing, and vision therapies. She also receives swim therapy and equestrian therapy. We also believed that having a sibling would be the best therapy for Rylie. She now has a little sister, Lily, with who she loves to play.
I am looking forward to the day when they can run around together! Now 4, Rylie attends a preschool for kids with disabilities. She receives her daily therapies at school and is making nice progress. Rylie is beginning to use a walker to take her first steps. Having a child with special needs is a difficult journey; but it is our journey. It is not the one we had planned but it is still filled with hope and love. We are now able to dream new dreams for her. We are better parents because of our journey with Rylie; and most certainly better people.