We have two wonderful daughters, Nellie and Nora. Our Nora has an extremely rare genetic condition, USP9X-female syndrome. There are approximately 100 known cases globally. For the few cases that have been tracked by researchers, there is an extremely wide range of symptoms and outcomes, with all cases having some level of intellectual disability/ developmental delay and a variety of significant medical diagnoses.
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Our journey began during Nora’s fetal anatomy scan, when several abnormalities were noted, specifically concerning her brain development and her kidneys. Following this 20-week ultrasound, we were referred to maternal fetal medicine (MFM) and seen regularly for more extensive ultrasounds to monitor Nora’s growth and development. While standard genetic screening tests came back “normal,” Nora’s brain continued to show increased fluid as did her kidneys.
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Nora was delivered via C-section due to breech positioning in August 2022. Shortly after delivery, additional abnormalities were noted and Nora was whisked away to the NICU for observation. Fortunately, her vitals were stable and she was brought back to us to room together in the hospital. Before leaving the hospital, Nora was seen by urology, neurology, neurosurgery and cardiology. Over the course of the next several weeks, Nora picked up additional diagnoses including an airway condition that required an additional 3-nights in the hospital and discharged home with 24/7supplemental oxygen, apnea monitoring, and cardiac monitoring. While admitted, several tests were run to rule out epilepsy and genetic testing was sent off with the understanding that it could take up to a year to receive results. We felt like we had more questions and no answers, with uncertainty and stress levels at an all time high.
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During Nora’s hospital stay to evaluate her breathing difficulties, David’s colleague, Trey Winslett, became aware of all that we had going on with Nora. He heard how we were consumed by an avalanche of appointments with a dozen specialists and informed us about the new rare disease specialty clinic that Ward’s Foundation was working to open at Levine Children’s hospital. While we weren’t sure what Nora had at the time, her multitude of symptoms across specialties fit squarely into the mission of Ward’s Foundation. Through Trey, we were introduced to Dr. Chadha (pulmonologist) and Dr. Ferren (geneticist). We finally began to get answers about Nora’s genetic condition and we are so appreciative of the entire team at Levine Children’s Speciality Clinics.
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Having a formal diagnosis for Nora has provided some peace of mind and we have found a community of parents with daughters who have the same condition online. We are learning more about Nora each day. We will continue learning new things about her and her condition throughout our lives. While we expect our journey will be marked by guideposts rather than milestones, at the end of the day Nora is a loving, happy, smiling baby who is learning to approach the world in her own way.
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While having a child with a rare diagnosis has been extremely challenging, helping our almost 4 year old learn how to be a big sister while navigating this diagnosis has been a challenge as well. While Nora’s care has demanded much of our focus at times, it is amazing to see the empathy and compassion Nellie shows her sister. We hope in sharing our story, other families will feel less alone on this often isolating journey.