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

Monday, January 28, 2013

Shared a laugh

Today was a pretty typical day. So, when I say this from now on you'll know that Asia threw pretty big tantrums in the morning, afternoon and eve. High pitched shrill, slapping, and throwing stuff. Today though, I got to laugh about it with my amazing husband. Asia loves-LOVES-McDonald's. He picked her up from school and brought her to get fries on the way home. I seriously will put 3$ in the budget everyday for her to get it-if that will make her happy (and unlike the last post-the weight gain wouldn't hurt, she is as thin as could be now). She is very difficult to please and this is well worth the money:) She gets home and is so upset. Throwing a huge fit ????? not sure what it is but we start getting her food and she is throwing it as hard as she can everywhere-(every meal is in fact, a true all out food fight and not in a "fun" way). So, she really wants these fries so she will take a bite and throw the other half on the floor. Just to show her rage. Over and over this happens then she tries to scoop them all up and toss them. Dads laying on the floor trying to pick them up and he is just getting bombed. She then gets her chocolate milk and suddenly there are little drops of it going all over me, the chair, the kitchen her dad-wow. All we could do is laugh-what else can you do. It was actually really nice to have someone else there to laugh with-daddys usally working during the day and we are dealing on our own. We finally realized that she wanted a soda. She saw ours sitting there and wanted that kind of drink.

So, note to self-get Asia a soda not chocolate milk:)

A fun side note: McDonald's is a pretty awesome place for Asia. Again she only has a handful of words but one day driving home from a Dr's appointment, from the back seat it sounded like Asia was saying "hamburger". My husband and I looked at each other and said "hamburger"? Whoa, she just said a new word. This was about a year ago. Then she called it "M". Then she would say french fry and now she says "Donald's". But, she seems to have lost the other words-which is a bummer.

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