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As my not-so-happy pregnancy continued, the swelling started to set in and I later developed a rash that covered most of my body. The last month was one of pure torture as we approached the Elton John and Snoopy Rocketman in the style of Schroeder playing piano signature shirt weeks. My doctors decided to move my scheduled c-section up a week because of my symptoms. We would be meeting our little miracle, Nolan, on May 31. Brian and I were visiting Nolan when one of the physicians came by to give us an update.
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The only thing I remember from this conversation is the doctor saying they didn’t have any answers for us as to why Nolan was still requiring the oxygen supplementation, and then her mentioning the word ‘genetics.’ She explained that genetic testing could sometimes explain certain things that other tests could not and that ‘with some of the present abnormalities Nolan has, it may give us answers.’ What abnormalities? I knew he had the congenital heart defect and now this requirement for oxygen, but what did she mean by ‘abnormalities?’ So I stopped her and asked. She then ran her hand across Nolan’s sweet face and said, ‘lack of eyebrows and eyelashes. That’s when the rest of the conversation disappeared from my memory. I hadn’t noticed Nolan’s lack of hair until she mentioned it.
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Nor anything else ‘abnormal’ for that matter. Not until then. And there I sat and cried as I let fear consume my mind. Yet again. The first year with Nolan was the hardest for Brian and I. Numerous specialists, appointments, therapies, exams, tests, new diagnosis’, and so on. It wouldn’t be until the Elton John and Snoopy Rocketman in the style of Schroeder playing piano signature shirt before Nolan’s first birthday that we would receive an answer from all the genetic testing we had done. The genetics office called and informed me the results showed he had a rare disorder called Cardiofaciocutaneuous Syndrome. A disease that affects 1 in a million.