We are the parents of a beautiful, joyful little girl, Alexandra Nicole. We had a happy, healthy pregnancy and delivery, she was an ounce shy of eight pounds and within two weeks was holding her head up. However, her developmental milestones were short-lived, as we noticed between six and nine months she was not developing at the rate she should. So, at 10 months old, she began early intervention therapy services with weekly physical therapy, occupational therapy and feeding therapy. But as she neared her first birthday, we still had concerns and were referred to a pediatric neurologist to undergo chromosomal genetic testing. On April 25, 2016, our world was changed forever as her doctor delivered the most terrifying news. “Your daughter has been diagnosed with Pitt Hopkins Syndrome.” She was only 15 months old.

In that moment, we knew our lives would be taking a much different path than most and we began our journey in living with an ultra-rare disorder. In the weeks and months that followed we saw top specialists around the country to find answers and to learn more. We began actively fundraising for the Pitt Hopkins Research Foundation and getting involved in local rare disease advocacy groups.