Penny is our second daughter, born in the Fall of 2024 after an issue-free pregnancy. She was a quiet and sleepy baby, but we noticed early differences in how she tracked objects and reached for toys. As the months went on her developmental delays became clearer, and we sought specialists to figure out what was going on. Penny was diagnosed with Pitt-Hopkins Syndrome at 10 months old, a rare disease we had never heard of caused by a spontaneous gene mutation we didn’t know was possible. The diagnosis initially devastated us as we realized how different her – and our – lives were going to be.

What has brought the most happiness post-diagnosis is learning to live in the moment with Penny – a happy, smiley and sweet baby girl who loves water, music, books and anything her big sister Ruby does. Penny has taught us so much in her less than two years of life, and we love her more than words could ever say.

This doesn’t erase the fact that it cuts a little bit every day to watch how hard Penny has to work to do things other people never have to think about. Being able to pick up food, move your body and explore, express communication – these are all things that come so easily to most toddlers that we took completely for granted. We want Penny to live a happy life where she knows she is loved every day, but we also hope that through scientific advancements she could have improved communication, independence and mobility in her lifetime.

Supporting the Pitt Hopkins Research Foundation (PHRF) is one of the most powerful ways to make that possible. Research is moving forward, but will stall without funding. Rare disease research and clinical advancement are often not prioritized because of small patient populations. This is heartbreaking, because families like ours are desperate for it. PHRF grants are what keep this work alive. Without them, progress stops. With them, we move closer to treatments that could change Penny’s life and unlock breakthroughs for many other rare diseases.

Penny is growing up fast – we already feel the literal weight of what life will be like having to physically assist our child for all mobility and caretaking tasks, and she is not even 2 years old. Every day without progress is a day she spends unable to say what she feels or do what she dreams of doing.

Please donate today to give Penny, and the entire community of people living with Pitt- Hopkins Syndrome and their families, a chance at the lives they deserve.

Every. Penny. Counts.