Team Emma Nelson
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Life changed for us when our daughter Emma was born on June 22 2014. Life was great as we had our 2 year old son Johnathan, and now got our little girl! She was four weeks early and Kim had a typical pregnancy with no signs of problems, other than the baby was breached. Our baby was brought into this world through an emergency C-section and found out she was a girl! We were thinking something was not quite normal when there was no crying sounds and the hospital team rushed her into a different room. Justin was then called into the adjacent room to see her. Her APGAR was initially a 1 but moved quickly to an 8. She was beautiful. We took her up into our hospital room while experiencing our honeymoon stage with her, but noticed that something just wasn't quite right with her hands. Her blood sugars also were not regulating at the time and she could not keep up her temperature, so in the middle of her first night, Emma was placed in the NICU. We received word the next day by a team of genetic doctors that Emma most likely had the syndrome Trisomy 18. They were not sure what her life expectancy would be. They were performing genetic testing over the next few days to get a firm answer. As our world shattered around us, there wasn't enough internet searching, tears, and hope that these results would come back negative. She had very low muscle tone, had a hard time sucking to receive nutrients to thrive, and was aspirating when she received formula by mouth. That week seemed like eternity to our family waiting for the results. We knew we would get answers and how would we over come these answers if we found out what Emma had? We had ignorance as if there was nothing wrong, we experienced doctor after doctor looking her over as if she was a mystery. We received the test results back and Emma had no extra 18th chromosome! Everything showed normal on her test. But something obviously was not right. With her health in question, Emma was brought to Ann Lurie's Children's Hospital to get evaluated to see what her struggle was on sucking and aspirating. After advising with doctors, we made the decision that she would need surgery to have a G-tube placed to help her feed. We counted the hours and days until we could leave to bring our baby girl home to meet her brother and to get back to every day life. After 28 days in the NICU, we finally were able to take her home! After all the "training" in the hospital on how to feed her through her G-tube, the first night we couldn't figure out her feed and it ended up all over the floor. How were we going to make this work and have our baby girl eat? We knew we had to figure it out and we did. With that, life wasn't as easy as we would have liked...from weekly to month doctor appointments, ongoing tests, working with multiple therapists (PT, OT, speech) and getting to feel comfortable about hooking our child up to eat when in public. Getting used to the nightly tube feeds and the beeping noises when her feeds were over. As that sounds crazy we have made this our life and this has become the routine we have lived life the past 2 years. All the unknowns to doctors on what syndrome our daughter may have to will our daughter be able to walk and talk and fit into the community. We took a genetics test in July of 2016 and received the testing results September 30 2016 which showed a mutation in Emma's genetic make-up. The mutation was found on Emma's MAGEL2 gene. There was not much information on this rare genetic syndrome (Schaaf-Yang Syndrome), and the call wasn't like anything we would have ever imagined as we were told that the syndrome only affected 28 people (at the time) in the world. With excitement joy and tears, we knew we had an answer but the answer was so broad that we needed to determine what we can do to help Emma and the children who are being diagnosed. Being able to connect with other families sharing the same stories on a Facebook group has helped us reach a sense of community. But how can we further pursue and help educate our family friends and colleagues about this rare genetic syndrome? We want to now get in front of the world to help get funding for research.
Funds raised will be used to advance PWS research through the Foundation for Prader-Willi Research. You can learn more about PWS and the research that is underway at http://www.fpwr.org/.
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