Hayden Faith is the youngest of our four children and completes our family! Our first sign that something might be wrong was at an ultrasound during the pregnancy where the doctors suspected there may be an abnormality in her hands and that she may have club feet. While we did genetic testing, everything came back normal and her other development (brain, heart, lungs, etc.) were normal. We were preparing for physical abnormalities and had already lined up an appointment shortly after birth with an orthopedist to help address it quickly.  

On November 5, 2021, she was born with 10 fingers and 10 toes with no club feet. However, shortly thereafter, her doctors suspected there may be something wrong that was much bigger than physical abnormalities. She had bilateral contractures (clenching of her hands) and had difficulty feeding. After multiple tests in the hospital to understand what may be causing her issues, we received the results of her full exome sequencing that she had been diagnosed with Schaaf-Yang Syndrome (“SYS”), a rare genetic disorder where less than 400 cases have been identified worldwide since its discovery in 2013.

SYS is a genetic disorder caused by a disruption in the MAGEL2 gene on chromosome 15. Some of the characteristics of SYS include low muscle tone as an infant, infant feeding difficulties, joint contractures, sleep apnea, developmental delay, intellectual disability, and a high prevalence of autism spectrum disorder.

Hayden spent 35 days in the NICU, which included surgery to place a feeding tube. Since then, Hayden has seen nearly every specialist and has physical, occupational, feeding and speech therapy appointments 5 days a week to help with her development. She has missed typical developmental milestones, but is making great progress at her own pace. She has transitioned off her feeding tube from a nutrition-perspective as she has worked hard on swallowing solids and purees and is working hard on liquids now. She is now pulling up and cruising along the coffee table, crib, and anything else she can pull up on! Hayden is starting to find her voice with intermittent coos and screams of excitement, but still has not said any words. We are patiently waiting to hear her sweet voice for the first time.

Having a child with a rare disease diagnosis is physically, emotionally, and mentally exhausting. We still remember the moment we received the diagnosis; it felt like the dreams we had for our little girl were crushed. The impact on the rest of the family is big too. The toll all the doctor and therapy appointments take is only the beginning. Everywhere the family goes, the needs of Hayden (and all her required equipment) need to be considered, which sometimes means we don’t do things, or we split up to do it. Even with all the struggles, Hayden has changed our lives in ways that we couldn’t have ever imagined. Our perspective on what is important has changed, and our ability to live in the moment and celebrate the achievements of all our kids helps us appreciate every blessing around us.  

While we initially thought our dreams for Hayden were crushed, we still have the same dreams for her as we did when she was born. They are simple. We hope that she is happy and reaches her full potential – whatever that is. We are doing whatever we can to help her achieve those dreams.

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