I became pregnant with Kylie on December 7, 1999. I know this because we had some infertitlity issues and were keeping track. We were living in Hawaii on the Big Island at the time. In January of 2000 I had some spotting for about 5 days. I was very worried that I was going to lose the pregnancy. I saw two different OB's in town and they both saw nothing on ultrasound and told me not to worry. Healthcare in Kona, HI is not known for its excellence, so we decided that the baby would be born back home in Arizona. We came home for a trip in March, when I was 18 weeks along. I saw my regular OB doc in town and he drew my blood for the AFP test. We made plans to come back to Arizona in August for the baby's birth. Back to Hawaii. The next week my doctor from AZ called to say the AFP was abnormal and that the test indicated that the baby could have Down's Syndrome. We scheduled a Level II ultrasound. April 4, 2000 is the day we will never forget. Our lives have been forever changed since that day. We received a diagnosis of Alobar Holoprosencepahly. The doctor also saw a heart defect, fused fingers on the baby's right hand and possible club feet. He thought it looked like a genetic syndrome and suggested termination of the pregnancy. We told them we had no intention of doing that and we consented to an amniocentesis. The amnio came back with normal chromosomes and showed us that we had a baby girl. We were seen by the specialists and had ultrasounds every month after that. We even flew to Honolulu once and had a prenatal MRI done of Kylie's brain and saw a ped. neurologist. The outlook was grim. No one in Hawaii had anything positive to say about her prognosis. As we were doing the ultrasounds each month though, she started looking better. In May, her feet looked normal. In June her fingers opened and closed, and in July, they saw no heart defect. I had some more spotting. I was sure that she would miscarry. She had other plans. We packed up our house and moved back to AZ in August 2000. The induction was scheduled for August 21, 2000. It was in God's hands now. We waited and we prayed. The day of Kylie's birth was unlike anything any of us had ever experienced. We had 11 people (family and close friends) in the delivery room. We had soft music playing. We had 6 hours of video tape. We had readings from the bible. We had no fetal monitoring. We had a DNR order. We expected to love her and to let her go the same day. We were wrong. Kylie Noelle Southworth entered life at 2:18 pm on August 21, 2000. She weighed 5# 12oz. She had the cord wrapped around her neck two times. She scored 8 and 9 on her Apgars. She was beautiful! She was perfect! (at least on the outside!) My OB said that if he didn't know the prenatal diagnosis, he would've thought she was a normal, healthy baby. She has been fooling people all of her life. After that emotional day, we adjusted to living with a multiply handicapped child. We continued our research on HPE, got all of her services started with the Department of the Developmentally Disabled, and were thankful to be blessed with such a special child. We think Kylie chose us. We think she is here to teach some powerful lessons. Kylie has been evaluated by the Carter Center twice. Her diagnosis has been confirmed as alobar hpe. Her associated disorders include hydrocephalus, diabetes insidipidus, dystonia, GI complications, and severe cuteness!! She has had five surgeries; 2 ventro-peritoneal shunts, a G-tube, a Nissen fundoplication, and a pyloroplasty. Medications she takes include; DDAVP, Artane, Ativan, Reglan, and Prilosec. She is on continual feeds (22 hours/day) through her feeding pump until she can tolerate higher rates in less time. Her therapies include; speech therapy once a month, physical therapy twice a week, occupational therapy once a week (we requested twice a week in Jan. 02)and early intervention therapy twice a week. When the weather warms up, I take her to the Special Olympics training pool (heated!) and do my own water therapy with her twice a week. We do get some help from the state with her care. She gets 15 hours of respite care each week and 20 hours of attendant care each week. I wouldn't be able to make it without this help. Kylie is a very special little girl. With all of her problems, she is still so happy to be alive! She smiles all the time, she laughs, she coos (we're working on babbling) she loves being tickled and kissed all over. She loves to explore things with her mouth. She can roll from her tummy to her back, and she is working on head control. Her physical progress has been pretty slow with her surgeries and all of her vomiting. She watches her Baby Einstein videos with fascination. Her big blue eyes are so expressive. She turns her head to every noise and wants to see everything that's going on. She really makes her needs known. You can't help but love Kylie once you meet her. The biggest question for us has been "why did this happen?" Kylie is 17 months now and we have no answer. The wonderful professionals at the Carter Centers have ruled out every possible factor that we've thought of. It's not genetic. It's a sporadic defect. We would have a 5% recurrence risk. We are doing everything we can to help them find a cause. I hope everyone out there with an affected child is also. We show the educational video to everyone we can. I plan to show it to as many pediatricians in the Phoenix area as I can. I'm on a mission. I want those doctors out there to be educated. I don't want another woman to be scared into terminating a child because a doctor is misinformed. I know its frightening to receive this diagnosis. I'm a nurse and I'd never heard of it before. I also know that having a child with HPE has made me a better person. I have learned that your life can be changed in a matter of minutes. I've learned that you can keep going long after you think you can't. I've learned that friends can become strangers and strangers can become friends, and to quote Christi Carter Urschel, I've learned that you don't love someone for what they can do, you love them for who they are. We hope that Kylie will be with us for a long time.