What a ride

Cornelia De Lange Syndrome.... Thats the diagnosis we were given just a few hours after Sophia was born. For months during my pregnancy we searched the internet and met several times with a genetics counselor in hopes of putting a name to this frightening dream we had fallen into. I remember the call I received from my husband as I was laying in my hospital bed recovering from the c-section. The fright and worry in his voice as he told me the diagnosis and read from the informational page he was given from the NICU team of doctors. We were so glad Sophia was here, although prematurely, and was thriving and doing well in the NICU. That happiness was soon overcome by more fear and worry as we learned more and more about CDLS and the long road ahead of us. Everything we read didnt provide us with much hope for her future. Everything we read lead us further and further into depression. I kept looking and looking in hope of finding something, just one article, that would disagree with all the literature saying that every child with CDLS is developmentally delayed. My beauiful sweet Sophia, just a few hours old at this time, was already being labeled and the outlook wasnt good.



Sophia spent two LOOOOONNNNGGG months in the NICU. We were there for Thanksgiving, Christmas, and New Years. Finally at the end of January 2010 Sophia was ready to go home. Our NICU experience was wonderful and we were fortunate to have the team of nurses and doctors we had. Our neonatologist had experience with CDLS which was helpful and reassuring during the hard times. While in the NICU it was hard to balance life with our other kids. Still, if Sophia made any noise or movement that scared us the nurses were right there to lead the way. When we finally went home that safety net was gone and for awhile life was more stressful than I ever could have imagined. There was this constant pressure on us for Sophia to gain weight and yet she was constantly vomiting and had terrible reflux. Each time she would vomit I felt more and more like I was being pulled into a black hole. The fear of facing life with her having a g-tube seemed inevitable. The huge pile of laundry that seemed to pile up faster than we could put it away. The constant on the go to doctors appointments and in home therapies. All while trying to balance breast feeding and spending time with my older two kids. The weight of the world, or at least our immediate family, was on my shoulders. Sophia thriving or failure to do so was based on my care and no longer those wonderful NICU nurses. Two steps forward, ten steps back.....



Eventually, as she grew bigger, we were able to get the vomiting and reflux under control. After we went a few days with no episodes I was finally able to breath again. Occasionally Sophia does vomit and reflux but I've learned how to cope and deal with it. No longer do I feel that I've done something wrong and could have prevented it. My child with CDLS will vomit from time to time. She will NOT gain weight fast no matter what I do and as long as she is gaining then thats what matters at the end of the day. She eats perfectly by mouth and putting in a g-tube will not speed up the weight gain process so I'll stand my ground and refuse that plan of treatment.



We have been so fortunate to meet other families and kids with CDLS. Sophia is now 7 months old and tiny but she's thriving. We had the opportunity to attend the CDLS conference in Dallas and Wow is the only word I can think of to describe the experience. Every person that attended was just so warm and kind. I have met friends for life and we are connected by this wonderful CDLS journey. I believe in order to successfully parent a child with disabilities you have to be an amazing person. You have to be able to find humor in those darkest of days, and believe me, we have plenty of them.



I never thought I would have a child with disabilities. I never thought I would have a child with physical differences from most of the rest of the world, I feared it. Although I feared it then, I can not imagine my life any other way. Sophia's birth was one of the best things to ever happen to me. So many wonderful people have come into my life because of her. When she smiles at me it lets me know I've done something right. Our CDLS journey has just begun and we've hit some major bumps along the road but wow, what a ride!