To vote for this story simply like the post. Voting ends 8/27 at midnight Uncharted Waters My husband and I have been married for eight wonderful years and we are mommy and daddy to FIVE beautiful little girls! Having all of these little princesses is all I ever dreamed of. From a very young age I KNEW I would have daughters. I’m not so sure I would be a good “boy mommy” since I don’t play sports, don’t like to get dirty, and I despise insects and all things slimy!! Having our children so close in age was intentional. My husband and I were no spring chickens when this all started! With daughter number four at our twenty week ultrasound we were so excited to find out if we were having ANOTHER girl. Indeed, the doctor confirmed what we already knew in our hearts… The situation went from joyous to frightening in a matter of moments. It appeared that she had a minor heart defect. We were assured that it was an “easy fix”. Then we were told that her limbs were very short, well below the 5th percentile. Our doctor told us to prepare for dwarfism. While my mind raced with this news, my worries were quickly overcome by thinking back to a show I had seen on t.v. I knew that “little people” had normal life expectancies. I knew we could modify our home to accommodate her needs. I knew that she could adapt to any social situation. “This is going to be ok!”, I thought. Our doctor recommended that we have an amniocentesis to rule out Down ’s syndrome and a few other genetic conditions. The amnio results came back NEGATIVE for any sort of Trisomy. So there we were, preparing ourselves to have a dwarf baby. Little did we know that there was NO amount of preparation for what was to come… she came in to this world like the rest of our children, pink and crying! They whisked her away to do their assessment. My mother was in the delivery room and had gone over to the incubator to snap some photos. Mom noticed something didn’t look right about her hands. Three fingers on each hand were fused together. My thoughts turned toward corrective surgery. “No biggie. This too can be fixed. Everything is going to be ok!” After a couple of hours in the regular nursery, we were moved to the NICU because she was not maintaining good oxygenation of her blood. She also was not eating. A geneticist came to see her and to confirm OR rule out the dwarfism. She took one look and said, “There is no way this is dwarfism.” We needed to get a special blood test to see what was going on, on a chromosomal level. It seemed to take FOREVER to get the results. Our days and nights were running together. We had been in the NICU for weeks now. And then the results came….. “She has a partial deletion of DNA from Chromosome 9.” What in the world did that mean?!? It means that there is a specific portion of genetic material missing from her DNA makeup. There was absolutely no other documented case in the entire world like hers. No prognosis. No known life expectancy. There were a handful of cases SIMILAR to hers, but not exact. We found out from those other cases that she would likely have a seizure disorder. She would likely be profoundly developmentally delayed. There would likely be kidney and heart involvement. She would likely be blind. As an already “seasoned” mother, I just wanted to “fix” her. Can she be fixed?? Is there anything we can do? This was not your typical “band-aid and Tylenol” type of stuff. You absolutely, positively, can NOT fix a gene deletion. She just turned two years old in June. I remember during one of our lengthy hospital stays, a doctor saying that she probably wouldn’t live past the age of two. Atta girl! You show ‘em my little fighter! She has been fighting an uphill battle her whole life and will probably continue to do so. She had her heart defect repaired when she was just three months old. Not long after that she got her tracheostomy. Within a week of that, she had a feeding tube placed in her stomach. She does have a severe seizure disorder and a cortical visual impairment. She only has one working kidney. She is dependent on a ventilator to help her breathe. She does not roll over, sit, crawl, or hold her head up. She is completely non-verbal. She has skeletal dysplasia and lacks muscle tone of any sort. BUT, DO YOU WANT TO KNOW WHAT SHE DOES HAVE???? A family that adores her. Sisters that are infatuated with her. She has taught our other children one of the most important lessons to learn in life. Acceptance. Tolerance. Unconditional LOVE! Our dreams may have been completely different before we had her. However, our family motto is “Redefining Normal”, and we do it on a daily basis!! We thought we would teach her all about the world. Turns out, she is teaching the world all about HER!
Posted on: Sun, 25 Aug 2013 14:43:10 +0000
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