Hi, I'm Emily's mom. Emily has a chromosome 16 translocation. This was just discovered this year, after having had chromosome analysis done twice at earlier ages, which were reported as normal. Due to better technology, the translocation was picked up with the testing done in February, 1999. Emily's translocation is questionably balanced, but further testing is being done to determine if there could be a microdeletion, which will hopefully explain Emily's problems. Part of the short arm of chromosome 16(13.3) is translocated to chromosome 15. Emily is a very special girl and has taught us more about life than we could've ever imagined. She's a wonderful gift from God and we are lucky to have her in our family. Since Emily is 11 years old, I think it would be better if the story is told as I think she may tell it herself, if she could. Here goes....
Well, first of all, I was born October 21, 1988 as planned, since I was a repeat scheduled c-section. My mom was huge and had lots of amniotic fluid, so they (the nurses) drew a pumpkin on my mom's tummy. That was a big surprise when the sterile cover was pulled back. I was smiling at everyone!!! My mom says they watched me for any gastrointestinal problems, because of the amount of fluid, but everything checked out OK in the hospital. I weighed 7lbs. 11oz., and looked as healthy as could be. But, starting at 6 weeks old, I started going down the tubes. I won't bore you with all of my details, but I will tell you the highlights. I had a gallstone, but no one could determine why. The docs took out my gallbladder when I was 9 months old. I continued to have elevated liver enzymes, which no one could figure out. I had constant ear infections which led to tube placement. Then over 2-3 years, I had three liver biopsies. I had one open liver biopsy and two needle biopsies. The reports showed that I had mild portal fibrosis. One of my doctors sent us to Cinn., Ohio for further evaluation. I was put in a study using a drug called ursodeoxycholic acid. It was to help my liver. I'm not sure if that did it or what?, but my liver enzymes have been normal for a while now, and I'm off the medication.
When I was three years old, I started having complex partial seizures. They made me sleepy and the neurologist thought I should begin on seizure drugs. So, after having an allergic reaction to Tegretol, I began on Dilantin. It did help some, but I would have break through seizures about once a month or so and they came in clusters. That was a drag, because I would be sort of out of it for days. Once I had to miss Special Olympics because of the seizures.
Well, the worst is yet to come. When I was four and a half, I started regressing terribly, especially behaviorally. My seizures were worse. My mom, dad and brother (who by the way is wonderful and has put up with a LOT!!!), looked awful most of the time. I remember feeling like my environment was my worst enemy. I could not stand riding in a car, wearing clothes, or much of anything for that matter. I didn't mean to, but I bit, scratched and kicked my mom and others. I also ripped the skin off of my hand from biting it so much. To say the least, my mom and dad were pretty worn out. I ended up in the hospital three different times. My mom took me out of school because the stimulating environment was way too much. I could not even recall my grandparents names anymore. It was the worst time of my life. But, thank goodness, in 1994 the doctors after numerous drug trials, put me on Naltrexone. I was already on 30mg of Valium a day (and I still am, but my mom thinks we could attempt to start to get me off), but the Naltrexone seemed to help my mind think clearer again and I stopped some of my abusive behaviors gradually. I had to go to a residential school for 11 months that was 3 hours away in 1995. I did OK there, but my family missed me horribly. I was only 6 years old and weighed about 35 pounds. I was incredibly strong for a 6 year old. After about 6 months, my mom asked the school system what they could offer me. Before I left there really wasn't a class for me and no one really knew what to do with me. I really wore out the teachers and therapists. So, the school system set up a classroom for me and I had a teacher and an assistant all to myself. I'm still in the same classroom, but now there's 2 boys in there also. My mom says she's glad there are other children, because I need to learn to share some of the attention. I have to admit, I'm the "queen" of attention getting. I am still on the Naltrexone and I am on a lot. Some days I can still get a little out of hand, but I usually "chill out" for a while in the bathtub, or have someone rub my feet with lotion. That seems to help. I take 3-4 baths a day. The tub is like my best friend!!! I haven't had a seizure that I know of since September, 1994, so I am now off of my Dilantin. My gums are back to normal size and I think I look pretty good!!!!
After going through that period of deterioration, the doctors decided to diagnose me with autism. My mom thinks that I have atypical autism?? Since I have this diagnosis, my family gets help with taking care of me. I have trainers that come in the evenings after I get off the school bus. I started riding the bus and I love it. My trainers work with me and try and get me to do things by myself. Sometimes, I have them figured out and can manipulate my way out of things I prefer not to do. Sounds like most kids, uh? I have wonderful teachers at school and I am beginning to have some "buddies" from another classroom come in and read to me and the others. We enjoy having them come. I have a wonderful big brother that I aggravate a lot, but he puts up with me pretty well. He probably wouldn't want to admit it, but he really knows a lot about me and could care for me if he had to. He does say, however, that when he gets older, the medical field is out of the question!!!!! I think he's had enough.
With lots of assistance, I have been doing pretty well for a while now. The doctors are looking closer at my chromosomes and to see if anything can be learned from all of my unusual characteristics. My family says I'm very special and that hopefully someone else will be helped with the information they learn from me. Thanks for reading my story and I sure hope you enjoyed it.