On November 29, 2017, Ella was born, and the next day we learned she had a heart murmur. We were told that her heart would most likely repair itself and we should not have any concerns as long as things continued on the same path. We were relieved that the doctors felt confident in Ella’s health.
As time passed, I started having some concerns. As a Special Education teacher, I noticed very early on that Ella was delayed in some of her milestones. At four months, I finally got the courage to request and fully push for a Babynet referral from her Pediatrician. By 6 months, we got the confirmation that Ella had global developmental delays and she began Early Intervention, Occupational Therapy, Physical Therapy, and Speech Therapy. As Ella grew, so did the gap in milestones. She was not able to support her own head at 8 months and she was diagnosed with low muscle tone. She was hospitalized with RSV for four days, had numerous surgeries on her ears and throat, and was constantly getting sick.
After some difficult conversations, we sought out testing through the Greenwood Genetic Center and met with the brilliant Dr. Roger Stevenson. We were praying for answers, but also hopeful that the answers were that no genetic abnormalities were found. I will remember February 26, 2019 for the rest of my life. I received a call from the compassionate team at Greenwood Genetic Center that Ella had Kleefstra Syndrome.
I do not think I slept the night we received her diagnosis. The more I researched this rare disorder the more worried I became for my sweet daughter. This was one of the most challenging times in my life that was filled with so much uncertainty and doubt. Our community of family, friends, therapist, teachers, numerous specialists, and other Kleefstra Families around the world really lifted us up during this difficult time. However, the words that kept sticking out in my head were “high percentage of regression in adolescence” and “psychosis very possible in adolescence”. With all the fears, we decided to live by Faith and not by fear. As we turned it over to God, we were able to stop and realize the beauty that was in front of us. My husband, along with some other Kleefstra Syndrome parents, started a foundation that is committed to identifying life changing treatments and resources for families.
Fast forward to now, Ella is in a Special Education preschool class and loves school. She is smart, funny, strong, and determined. Her dimples could light up the world. She now has a dual diagnosis of Kleefstra Syndrome and Autism. We celebrate milestones in a very big way in our house and are so thankful for our unique perspective. Ella has two amazing older brothers who are supportive, protective, and empathetic. One of her best friends is my sister, Katie, who has Down Syndrome. We travel to meet with her team at Boston’s Children’s Hospital once a year. They are continuously impressed by her determination and progress.
Ella motivates and inspires us to be better people. We pray that she will continue to have the confidence in herself that we have in her. One of the best things we did as a family is walking by faith, not sight. It allowed us to be free to enjoy the beauty of this special life.
We moved back to Greenville this summer and I was so excited to hear about KIND and all of the amazing things they are doing in our community. The world is a much better place with inclusion. The future is bright for Ella and I am so thankful for the foundations that KIND of the Upstate is teaching our children of the upstate.
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