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 21 months old with two incredibly supportive and protective older brothers: Jackson, 5, and Griffin, 3 ½. Over the past month, Ella has been outfitted with some special shoes and SMO braces that have assisted her to start walking! While mostly non-verbal, she has also learned a few words and is able to use some sign language in order to communicate some of her needs to us.
Ella’s future is extremely bright! We are incredibly thankful for the team at GGC. We honestly feel that we have been given this opportunity, and the fact that the GGC is in our community only strengthens that belief. Thank you to the whole team for not only helping us identify this rare syndrome, but to also lift us up as we move forward! The GGC has become family and an integral part of “Team Ella”. They have and continued to provide ongoing support and care for our daughter and family. We are honored to support GGC and the foundation for contributions they make to our family and other families in similar situations.