Boaz was born in January 2011 after 37 weeks of normal pregnancy. Right away there were some difficulties. Boaz did not drink and did not defecate for 48 hours. After 48 hours the problems seemed to be resolved and we were released from the hospital at day 4. Boaz is the third in a row and is far out the easiest personality wise. The first 18 months of his life he had a lot of sinus problems. Ear infections, having a cold and also having multiple lung infections. Boaz had to be admitted to the hospital several times. But we didn`t think much of it. Our other children had have ear infections as well. After 18 months we noticed that Boaz did do everything a bit later than other children. He was crawling at 15 months, walking at 22 months. He didn`t talk at all but we were told by many specialist and friends, family: Every child develops at his own pace. It still raised concern and we decided to find a specialist to help us and Boaz. We found the best of the best in the re-validation at the Sint Maartenskliniek. Here Boaz gets speak therapy (development delay 12 months) and therapy for motor skills (development delay 4 months). In the past 6 months Boaz making improvement at his motor skills, but his speaking delay still stays the same. He doesn`t talk but says sometimes random words (which are accurate placed. Like: Close the door.). Boaz sometimes repeats it but not very often. If I look at our other children when they started to talk, it looks like he can start talking every minute now (unfortunately we have been thinking this for the past 6 months). For the rest he is playing and making contact with his brother and sister. He loves to been taken out somewhere and has the cutest smile. Accept for the talking and understanding of language he has no difficulties.
Last Monday (April 2013) we got the news that Boaz is missing a very small part on 2Q23.1. It shook and shakes our world. We never thought that there was an underlying reason for his late development other than his sinus problems. Our doctor can`t tell us anything because there is only one child in this area who has the same deletion. Hungry for information but also very scared of the information there is.
2q23.1 Deletion/Duplication Disorders
Educational Support
2q23.1 Deletion/Duplication Disorders 
My daughter was just diagnosed with the 2q23.1 microdeletion. It is a super long story but I will try to share a little real quick. She is almost 7 now with red curly hair and dark blue eyes like her dad. She is also diagnosed with classic autism but she would be considered higher functioning with most things. She crawled at 12 months and walked at 19months. She spoke at 3 years and started reading at 3 years and one month. I was told she is hyperlectic. She would memorize letters and their sounds and she just sort of figured out how to read. I mean really read. I had to hide graffit and other poster I didn’t want her reading. I have a funny story about her reading at 3. Mind you she is just learnig how to talk too but she read a no smoking sign and insisted on knowing what that meant. (we do not smoke). I told her a little and she said “I want to smoke”. I was about to bring her in to ot so this was not the time to be arguing about that. She threw a fit and I said “Julianne it is illegal for you right now but at 18 you can make the choice for yourself!” She seems to have an oppositional disorder and want a lot of things to be opposite or mixed up. reverse physcology works wonders for her. She is pee potty trained even traveling and at night but number 2 is still in a pull up. She is severly constipated but we have found some nice safer laxitives for that. Every few months I have to give her a suppository. She chews her fingers utnil they bleed and mouths toys sometimes too. She uses chewie rubber tubes to chew on all the time. Her skin is very rashy and she has many food sensitvities. Her eyes are very very sensitive to light especially when she cries or in the morning. Spacing out is something we are getting used to but I still hope we can help go away some day. She has these staring trances where she is awake and responsive but her eyes are stuck on something and she cant’ blink. She does this over 100 times every day since birth. We have done so many many tests and no siezures have ever been found. Also a big issue we have is she has a food averson. She is very sensory and has spd. She is only eating soft foods and sucking not chewing. Right now she still eats some baby food. we call it purreed food to her and she also now eats sunbutter(allergy to peanuts but not sunflower seeds), goat milk, coconut yogurt (alergy to cow milk) spicey hummus, avocado pureed, and smoothie with all kinds of different fruits and veggies. I also sneak an egg powder in her yogurt for more protein. She has been on the autism biomedical with a DAN! dr for almost 4 years now which just means a lot of really natural vitamins like fish oil, and probiotics. Also we treated her with b12 vitamin shots to help her talk and they worked for us instantly and i strongly belive without them she would have remained nonverbal. When she was nonverbal we did some sign language. She is very smart and can repeat a story she has heard only once ver battem. I mean EXACT like if it says look on page 12 or point to the doggie she will say that when she repeats it. She likes to repeat stories and change them a little like the song 5 little ducks went out one day she changed to cars and when the mom would have quacked she would stop and make her vroom instead. I am not sure how much of her play is spontaneous because i hear her playing out books and shows she has seen. No one else would know that though because it looks very normal. She doesn’t understand dangers and would walk right off an 8 foot playground edge. her hands are very weak and have tremors. She can not grap things very well and has a real hard time flushing hte toilet. she can dress herself mostly but putting on shoes and her shirt over her head is hard. Motor planning is very hard as a whole. She is very very small but about 2 years smaller than she is and her hands and feet are little. her head stopped growing once for 18 months but is growing a tiny bit again. She really is a special girl and I am homeschooling her now and I am super proud of her because she is really trying so hard. she loves to feel the stickiness of stickers but if I don’t watch her she will try sucking on them and choke. Also the weather makes her very nuts! IF there is a change she is super cranky without knowing why. She is very tired all the time. She lippy rubs on her sleeves to put herself to sleep all day long but i am trying to keep her up so she will sleep at night. she sleeps at night well but has night awakenings for hours where she can’t rest. she is quiet and keeps to herself now though. I guess this wasn’t real quick was it. well she was playing with silly putty at my feel with her toys and was self entertaining real well. Anyway we only have one child and that is enough for us. We love her very much and we are always trying to help her advance her abilities and interests. I am concerned what this syndrome has in store for her future if there are complications.
Cathy