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Down Syndrome: Our Family’s Unexpected Journey

leaming Our world shifted when we were told that our son had Down syndrome. Although I was 37 years old, and acutely aware of my “advanced maternal age,” I was more apprehensive of the sleepless nights and non-stop feeds and diaper changes versus the risk for a chromosomal abnormality. Intermittently, I would reflect on the possibility of our baby having a genetic disorder, but would quickly suppress those thoughts and feelings with a nonchalant response of “well, it wouldn't make a difference” or “I’m just being paranoid.”  Perhaps, as a physician, I should have taken more time to consider the medical evidence and undergone further genetic testing, but as a mother, I just wanted to envelop myself in the excitement of being pregnant with a healthy baby. Our baby’s 20-week ultrasound was an emotional turning point for us. Unexpectedly, we were informed that our son possessed some soft markers for Down syndrome, and to know if he truly had a genetic disorder, we needed to decide whether or not to undergo an amniocentesis. Because my husband and I wanted a more definitive answer and if need be, time to process and accept his diagnosis, we agreed to the procedure and found ourselves in the very same waiting room where we had happily and anxiously awaited our baby’s initial ultrasound. This time, however, we sat in silence, holding back tears and clinging to each other for support, as we watched couple after couple emerge from their ultrasound rooms with smiles and laughter. In those moments, I envied their happiness and joy…and, felt overwhelmed by the plethora of emotions that bombarded my mind and soul. After our son's diagnosis was confirmed, my husband and I did a lot of soul searching, both as a couple and individually. We knew that he would be at increased risk for certain developmental and medical conditions more commonly associated with Down syndrome, and we worried about his health and well-being, quality of life and future needs.  However, even as we struggled with these potential unknowns and “what-ifs,” we embraced our son’s life and sought to learn as much as we could by reviewing the medical literature, reading parenting books and online blogs, and contacting the Down Syndrome Association of Houston. We also scheduled a fetal echocardiogram and follow-up ultrasound, met with the medical team at the Down Syndrome Clinic at Texas Children’s Hospital , toured the Rise School of Houston, and conversed with an estate planning lawyer who specialized in special needs trusts. For me, although planning and preparing for our son’s potential medical, educational and financial needs alleviated many of my concerns and worries, the brief, unexpected interactions that I had with some of the parents of children with Down syndrome while working in the emergency center gave me the most hope and reassurance. With some hesitation, I’d tell them about my son’s diagnosis and they would shower me with stories of optimism and strength and offer me unconditional guidance and friendship. Those moments, along with our family, friends and colleagues’ love and support, allowed us to overcome many of our fears and doubts and focus on the joyous arrival of our son, Joseph Dash Van Zandt. image2Joseph was born on April 16th, 2015, and his father, older sisters and I couldn't feel more blessed to have this wonderful, little boy in our lives. Since his arrival, Joseph has brought our family nothing but love, happiness, and fulfillment, and in his short, six weeks of life, has enriched all of our lives. Even with a brief NICU stay and some outpatient, follow-up appointments, Joseph has continuously thrived and flourished and his strength and sweet disposition continue to amaze and thrill us every day. Regardless of what challenges may come his way, we know that Joseph will enrich society with meaningful contributions, maintain long-lasting friendships and relationships and live a life full of love and contentment.  Many have told us that Joseph couldn't have “chosen” a better family...we, however, think the opposite is true, for our family couldn't have been blessed with a more precious gift.
Dr. Katherine Leaming-Van Zandt, Pediatric Emergency Medicine Specialist