Eli's Story

I was born December 25th 2005-Christmas Day -- at 11:18 am and weighed 6 lbs 6 oz and was 18 1/2 inch long. My mom had a perfect pregnancy and labor and I was born at 39 weeks, just on time. I appeared to be in great health, but had a small head and was a slow nurser, which made it hard for me to gain weight. However, at 3 weeks of age I still was not at my birth weight and was declining in my nursing ability, so my Doctor had a CT scan done. The Doctors then saw that I had severe cerebral atrophy (brain shrinkage), calcifications on my brain, hydrocephalus (spinal fluid on my brain), my retinas were detaching and I was having unseen seizures. All of these things pointed to an intra-uterine infection while I was in my mother’s womb. However, lots of tests were done and no infections were found, so they termed my situation PSEUDO-TORCH. They found I have a duplicate on my 4th chromosome, which both of my parents do not have. The Doctors think this is what has caused my body to have these problems, but they are not sure since they can’t find anyone like me to test. Later the Doctors also found I have profound hearing loss and had become completely blind. Of the five senses, they think I can still smell, taste and feel touch. I still can not hold my head up, roll over or sit up. I used to get very irritable and cry a lot but now most of the time I am happy. I also like laying flat on my back so I can squirm around. I now only cry when there is something very wrong with me and during my happy time I like to "sing" and smile. My muscles are very tight and spam a lot which is increasing giving me more trouble. I was feed by mouth until I was 3 and half at which time I got my first Feeding Tube.