We will remember February 26th for the rest of our lives.
On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome.
Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson and Wesley Patterson. From our first meeting, they have been incredibly compassionate and supportive. When we received the diagnosis, what initially felt like a sentence of sorts quickly turned into an opportunity. In our first post diagnosis meeting, we met with Wesley, Dr. Stevenson, and Dr. Giovanni Neri, who was visiting for the month from Rome. We felt incredibly fortunate and supportive to have such incredible individuals as a part of Ella’s team. Dr. Stevenson is brilliant and compassionate and we are honored to have him working with Ella. We had a million questions as we first began navigating our new normal, and Wesley answered them every single time. Fran has also been a wonderful resource to our family and our individual needs.
Ella is an amazingly sweet, determined, and busy little girl, and her diagnosis hasn’t changed any of that!
Ella is now 5 with two incredibly supportive and protective older brothers, Jackson and Griffin.