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

Thursday, May 23, 2013

Pajama Day

At the end of the school year Asia gets to do a lot of fun activities. A couple of days ago her class all went to a "trampoline park" where they get to jump in foam pits etc. I wish I could have watched these kids because I can picture Asia not wanting to do it but she came home exhausted! She must have gotten a work out she went to bed at 7pm and I had to wake her for school the next day at 7am. Yesterday they had rocket day and today was pajama day. Asia did NOT like me putting on pajamas to go to school this morning! I don't think she understood what was going on. She kept saying "No No, bus" and trying to take them off. I actually thought it was kind of funny and pictured her as a "normal" little 7yr old girl saying "no, I cant wear my pajama's to school!! No one else will be in their pajama's". I tried to explain it the best I could and when she got home I asked her if all her friends had their Jammie's on too?? She seemed all right:) She is out of school next week-starts a summer program in June.
-Asia has been a little feisty the last few days. I am wondering if it is because she is so worn out or if something else is going on. In the morning and evening she has been slapping in the face, screaming at meals, and kicking when she needs to be changed....again, nothing like she was-not as aggressive and full of rage but man, it sure pushes me over the edge. I am in need of a "break". I'll have to watch her for a few days and see if anything is bothering her. On the other hand...she actually came in to her brother's room and pleasantly tried to play  blocks with us-that was cool because it's out of the ordinary:)

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