This is our beautiful daughter Lucy, who was born in early 2019. After a healthy pregnancy Lucy thrived as a newborn, however we started noticing developmental delays when she was only 8 months old. Lucy soon started physical therapy, occupational therapy, speech therapy and developmental therapy. Simultaneously we began a series of tests and visits to specialists to figure out why Lucy was not meeting any of her developmental milestones. Then just after Lucy’s second birthday she was diagnosed with Pitt Hopkins Syndrome (PTHS), a very rare disease without a cure. This isn’t something any parent can plan for, but we knew we would never give up on any of our children. Sure enough we formed a team of people to support our daughter and discovered a worldwide network of PTHS families. As we grew in knowledge of PTHS, we discovered the ongoing research being done through the Pitt Hopkins Research Foundation to find a cure, which gave us tremendous hope for a better future for Lucy.

Life with Pitt-Hopkins

Pitt-Hopkins Syndrome (PTHS) is a rare neurological disorder affecting the TCF4 gene in chromosome 18. PTHS is characterized by developmental delays, breathing problems, gastrointestinal issues, lack of speech, anxiety, sensory processing disorders and atypical autism. Every aspect of Lucy’s life with PTHS is an adventure, but we are thankful to her team of therapists and teachers for continuing to help her progress each day. Pitt Hopkins patients present with extremely low muscle tone, which explains Lucy’s constant difficulty with motor control, muscle grading and weight shifting as seen with pulling up to stand, walking, jumping and balancing. Lucy also demonstrates severe deficits in expressive and receptive language and she is largely dependent upon a familiar adult to support functional communication for basic wants and needs. While she can understand everything she hears, we continue to work with her so she can one day respond to friends, family and teachers in the most generalizable way possible.