Elena was 8 weeks early and spent only two weeks in the hospital. She wouldn't eat very well so we had to force feed her pumped milk because she couldn't latch on she always spit up most of her food because she had reflux. My husband and I had to set an alarm every three hours to wake her up to eat because if left to her own clock she would eat one time a day and then sleep. At four months she finally latched on and was a good eater for a long time she was sick with frequent colds and viruses and one sent her to the hospital at 11 months for severe dehydration from about 2 months on I knew something wasn't right but our pediatrician kept telling me everything I brought up was because of her early birth. I thought the doctor would know better then me so I kept pushing what my instincts were telling me to the back of my brain. She didn't hold her head up until 6 months and then she couldn't sit up until 11 months. Elena never crawled.  when she went into the hospital  for rota virus at 11 months the attending doctor came in and asked how we were doing. I broke into tears and poured out the whole story to this stranger and her sat there for an hour listening to the whole story. then her looked Elena over  and asked me if I had ever heard of kabuki syndrome?

he sent us to meet with a geneticist and Elena was officially diagnosed at 16 months. it felt so good to finally have an answer. We have been so lucky because Elena is very healthy for a kabuki kid and she has needed no major medical procedures to this point. she did suffer some hearing loss from fluid in her ears but has since recovered and her language skills picked up. she has a lot of autistic like symptoms and we have struggled with OCD and stimming but she is our angel. I found that when we cut gluten from her diet her language skills picked up and she became much more interactive. she goes to a special preschool since the age of three and has really enjoyed the added structure. we also have had the help of a behavioral therapist for the last year and I now wished all parents had access to one because it has helped Elena to communicate better and has taught my husband and I how to handle some of her more stressful moments. I try to stay positive as much as I can but sometimes I really wish there were people close by who really understood because it would be nice to get a hug from someone who has been there.

By Amber