Chips, Cheese and Sometimes Marshmallows

Life with 2q23.1 microdeletion syndrome (chromosome 2)

Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...

Asia's List of Symptoms (2q23.1)

Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:

At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly.

~This list may be edited with new information~
There are additional symptoms with this rare syndrome that Asia does not have.

Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.

Conact Info and Support Group

2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions at

Sunday, August 18, 2013


I have been so busy with work I haven't had much time for posting...but, I am so ready for back to school! This is part of the reason why. Asia finished summer school and has been home for the last couple of weeks. Asia doesn't really "play". She doesn't play dolls, games, with friends, not much interest in coloring etc. She can't sit still for very long so even sitting and trying to assist her with something doesn't last long. This is one of the most difficult things for me because I feel like she is missing out on her childhood:( It's like she just doesn't "get it". She loves to watch other children play. At Grandma's she likes to stand in the window and watch while everyone else is outside playing and she honestly has a great time. She loves watching her brothers play with toys and will even offer toys to the baby to play with-which is cute, she just doesn't want to be involved. I am so embarrassed to show off my messy house but what I am getting to is, the pictures below demonstrate what Asia does when she is "playing". It only takes her a couple of hours to move through the house (and outside) and completely destroy the place-it's one of her favorite things to do. She is very destructive. She loves a clean room or a tidy closet-just to mess it up! If I send her to her room to play she empties out her dresser, takes all of the books off of the bookshelf and all the toys from the bins. She moves through the house empting cupboards, closets, dresser drawers-Argh! She takes stuff from one room and moves it to another. I am so done with it and can't wait for her to get out of the house for school:) I love her but, I am ready for a break and a clean house. I have given up for the last couple of weeks on even trying to keep things straight. When she is at school maybe I can clean up and it will stay clean for a few hours during the day-3 more days!
Asia's version of "playing"...Yes, all within a couple hours.

1 comment:

  1. Oh my goodness. Zoey (2q23.1 deletion like Asia but only 21 months) does this on a mini scale. I can't keep diapers stacked under the changing table or clothes in a laundry basket. She has to dump all the toys out of the toy basket that is hers. Also she only plays with one toy constantly and now that I think about it I think she is trying to get the monkey off of that toy but it's stuck to it! lol.