At our 20 week anatomy scan, we found out that one of our twins might face some medical challenges when she was diagnosed with a mild enlargement of her kidneys. After additional ultrasounds and close monitoring, a heart defect (VSD) and small size (IUGR) were discovered as well. Genetic counseling and further testing for these multiple complications was never recommended, but as a nurse practitioner and experienced mother, I knew to trust my intuition and push for a workup. Our prenatal testing was all negative and we were hopeful our baby would eventually outgrow these challenges with time.

Our twins were born in April of 2017. Baby A came home with us while Baby B had to stay in the NICU because she was unable to feed sufficiently or pass her hearing screen and needed continued evaluation. Again, I pushed for a genetic referral and was reassured that there were no overt signs of a genetic disorder.

Fast forward 2 years filled with additional challenges, ongoing appointments with specialists, and begging for more testing - Elle was finally diagnosed with Koolen-deVries Syndrome. We were told that she would likely have cognitive and intellectual delays, speech delays, and be at risk for seizures. The syndrome was rare (at the time, it was believed to occur in 1 out of 16,000 children) and data was limited. We were only given a few research articles and case studies.

After Elle's diagnosis, we were so incredibly lucky to stumble upon the Koolen-deVries Foundation, a small but mighty non-profit powered by determined parents and caregivers advocating for research, supportive care, and improved outcomes for “kool kids.” We have received most of our knowledge and guidance from fellow families and a variety of specialists in the Charlotte area who are making educated “guesses” at how to navigate Elle’s care given the limited data and guidelines that exist.

We are so blessed to have Elle in our lives. She has a funny and sassy personality, and reminds us to love and laugh every day. But there are also a lot of unknowns and fears as we navigate how to best support her speech challenges, developmental delays, and weaker tone and strength. Every doctor we see has to research Elle’s syndrome and most days we are paving our own path.

We were excited to learn about Ward’s Foundation and their dedication to support local families navigating rare diseases. The journey can be confusing, isolating, and at times terrifying. Caroline and Trey have brought awareness to a major gap within our healthcare system and they are incredible advocates for a hopeful future with more resources and support! We are thrilled to be connected with Ward’s Foundation and are grateful for the power of this community.

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