Oh, Grand Marnier…

By Kathy Cassebarth

Welcome to my life; it’s full of color, planning and details. As the owner of Balloons Unlimited, planning is part of the daily routine, but no amount of planning can prepare you for a grandchild with unpredicted special needs.

t was the middle of the night in December 2022 when we got the call. Our only child, Zac, and his wife, Kate, were heading to Lodi Memorial to give birth to their first child. The pregnancy went smoothly; the 20-week checkup showed no signs of any abnormalities. Everything was ideal for a perfect delivery; my most pressing decision was what our new granddaughter would call me. At the time, I couldn’t decide, nothing felt right. I finally settled on Grand Marnier because I would imagine being at my favorite store, Pottery World in Rocklin, and my granddaughter walking around calling out “Grand Marnier, oh Grand Marnier!” in retrospect, it was such a silly thought.
As the sun came up, Gregg, a.k.a. Papa, and I left for the hospital. We stopped by the neonatal director’s office on our way in as I’ve decorated many events over the years for Valerie Stump. She escorted us to our new granddaughter’s room! My hands were sweating, I was so nervous and happy to meet our new buddle of joy, Emery Rae Cassebarth.

We met Emery, our new little Ladybug, in her hospital room. She was already under the grow light in her bassinet. She was a healthy 8.5 lb., 18-inch-long baby, but Emery was clearly struggling. Noticeably, her little fingers wouldn’t open all the way and something was amiss, but nobody knew why. The UC Davis pediatrician was called in since Lodi Memorial contracts with UC Davis Medical Center. It turned out to be a huge advantage because after checking her out, it was determined that it was in Emery’s best interest to be transported to UC Davis Medical Center in Sacramento.

Emery was admitted to the NICU, where she remained for 47 days. In the NICU full of preemies, Emery stood out, prompting multiple nurses to ask repeatedly, “What is she in here for?” We always responded with the doctors’ words, “She’s an anomaly; we’re not sure.” Emery eventually came home with oxygen and a feeding tube.
Fast forward to December 2023. Emery is about to celebrate her first birthday, and we get the diagnosis, Schaaf-Yang Syndrome, or SYS.

Emery’s amazing mom, Kate, and I scoured the internet for information and found a website and Facebook group for SYS. We discovered that the syndrome is only nine years old! We read that approximately 400 people worldwide have been diagnosed with SYS, making Emery one in a million!

With the diagnosis, we were relieved that Emery would receive the appropriate treatments. The blessing of being at UC DMC, a teaching hospital, was that everything that they had prescribed thus far was on par for what previously diagnosed SYS patients were receiving. Her treatment plan would include growth hormones along with oxytocin.

SYS is a rare genetic disorder caused by a disruption of the MAGEL2 gene on chromosome 15. It’s characterized by growth hormone deficiency, developmental delays, intellectual disabilities, low muscle tone, joint contractures, feeding difficulties, sleep disturbances, high risk of autism, eye abnormalities and more.

In the SYS Facebook group, we learned about an annual conference in Atlanta, Georgia. The five of us attended and met Dr. Christian Schaaf. He currently resides in Germany and manages a team of scientists at Heidelberg University that continues to research the MAGEL2 gene. In 2013, Dr. Schaaf was a visiting professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute in Houston, Texas, when he discovered the disrupted MAGEL2 gene on chromosome 15, now known as Schaaf-Yang Syndrome.

Emery is now two and is doing great! She has the best disposition, she’s physically healthy and her body is growing strong. She still has a feeding tube but is making strides toward taking food by mouth. Emery is starting to imitate sounds and gestures and is developing a charming personality.

Because this syndrome is so rare, there is no federal funding for research or drug development. Therefore, on June 14, 2025, we’re kicking off our first annual ONE SHOT CLOSER TO A CURE Schaaf-Yang Shootout.

At the conference, Dr. Schaaf unexpectedly asked me what I wanted Emery to call me. I responded with a grin, and said, “Grand Marnier.” He chuckled and said it might be a while before Emery is able to say that. Perhaps one day, with more research, I’ll hear those magic words, Grand Marnier.