Xander was born February 9th, 2013, 2 days after his estimated due date. He weighed 8 pounds 8 ounces. My pregnancy was picture perfect, as was the delivery. The only concern at the time was our strong family history of Long QT Syndrome (an electrical abnormality of the heart that increases the risk of lethal heart arrhythmias), which all of my children are at risk for. His first EKG demonstrated that I had passed Long QT down to him. He was started on a liquid beta blocker at 2 weeks old to decrease his risk of arrhythmias. Though the prospect of lethal heart arrhythmias was scary, I knew that there were effective management options, as I had been diagnosed myself at the age of 15. I was just glad that we could begin his management so early.Around 7 months old, I began noticing that Xander had some difficulty holding himself upright in his bumbo seat. He also began to fall ill with respiratory illness and ear infections every 3 weeks (experiencing a febrile seizure at one point). Being a nurse mom (and if anyone is a nurse or had a mother as a nurse, you know), he had to “earn” visits to his pediatrician, and I felt like we were ALWAYS there. I remember routinely stating to his pediatrician that I felt like he wasn’t meeting his gross motor milestones as he should, and especially so when he didn’t start walking until 17 months. He seemed to struggle to get off the floor. I was told not to compare my children, that each child develops at their own speed, and that though he was on the later end of meeting milestones, he was still within what was considered normal limits. One morning the summer after he turned two, he woke up pale, sweaty, and lethargic. I assumed it was related to his Long QT diagnosis at worst or low blood sugar at best. I called EMS to be on the safe side and we went to the ER. I was calm the whole way because in my mind, either was manageable and he would be ok. Once in the ER, they performed a variety of labwork, with a great concern that Xander had experienced a seizure. I began to get a little more worried at this point. Seizures? My sweet boy already has Long QT, now possibly seizures?I remember the team of physicians coming back into his room with a look of concern on their faces. They began asking me about Xander’s history of weakness. I was confused – we weren’t there because he was weak. We were there because he had woken up pale, sweaty, and lethargic. Where was this going? They asked me specifically about how Xander would stand up from the floor. Then I knew. At the time I was in anesthesia school and we had just learned how to identify signs of Duchenne’s Muscular Dystrophy in the pediatric population as they relate to anesthetic implications. Everything they asked me was related to that diagnosis. After spending a couple of days in PICU and having genetic testing done, it was confirmed. Xander had DMD. DMD is an X linked recessive trait, predominantly passed from a mother, but can be a result of a new genetic mutation, which was the case for Xander. It results in progressive muscle weakness, heart failure, respiratory failure, and ultimately early death. There is no cure. However, with medical advancements, those affected with DMD are living longer than they did historically, with better quality of life and functioning. Most diagnoses are made around 6 years old. Monty (Xander’s dad) and I, along with our entire family, were devastated. We had no idea how to navigate this diagnosis. We were fearful of what was to come. We were so worried about how he would be treated socially for being “different”. It took us a long time to accept his diagnosis. But once we moved to the upstate and got connected with a wonderful healthcare team, we began to see our boy again for who he is as an individual, not his diagnosis. We are still learning to navigate changing medical needs because each change usually indicates a level of functional decline. Xander has had to participate in occupational therapy, physical therapy, and speech therapy. He sees a wide variety of specialized pediatric providers given how DMD affects numerous body systems. Since he was diagnosed so early, we were able to start therapies quickly to help preserve his muscle function longer (he is able to take pills better than most adults we know!). His school system has developed a 504 plan for him to make sure his needs are being met in his educational environment. We enrolled him in counseling early to help keep him mentally healthy. He is utilizing his wheelchair more frequently, though is not currently wheelchair bound. He recently started using a CPAP for his sleep apnea. Surgeries are on the horizon for heel cord lengthening and scoliosis repair. He receives growth hormone injections nightly due to stunted growth from steroid use. Despite all of this, he is still determined and perseveres through it all. He is one of the strongest and most caring humans I’ve ever met. He can tell when someone is having a bad day and he gives the best hugs to make it better. He loves fiercely. He makes friends with everyone and his classmates fight over who gets to push Xander in his wheelchair. His smile lights up the room. His sense of humor makes us laugh daily. He loves to draw, build with legos, and examine insects. To us, he is perfect. We have had to learn to change our sense of “normalcy”, and routinely have to alter that sense of understanding with his changing needs. However, we are able to do it with support from family, friends, and a wonderful community. Xander is a gift. He has taught us all so much more about life and what is important. We are so thankful for the opportunity to share Xander’s story to help teach our community about those that are differently abled.