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, March 18, 2013


I saw a post recently on the program "Boardmakers" and let me tell you I have been making "boards" for two days now! It's been a little addicting. Because Asia does not really "speak", they have been trying to get her to use the PECS program at school. Which is a picture exchange communication system.  It hasn't really clicked yet and it is going on 4+ years, but I still have hope. They use to use paper pictures then it all went on the iPad. It's been a little frustration because when she was in early intervention pre-school they always talked about getting us the pictures they were using. Then the iPad was suppose to be for her use and even now the same situation for 1st grade. Still waiting for which images to practice with. We all thought we would start out simple until she grasped the concept but, it has been really difficult to know what to do at home. I always feel we are on "hold" waiting for her therapists to give me the information I need to continue.

So for now, I have made my own "picture boards" and she LOVES them. It's only been a couple days and she is not using them the way I want her to but, she wants to carry them with her where ever she goes. She loves books and magazines and this may fall into that category with her. I am going to make some small 2x2's and put them on a key ring that can be attached to her backpack. I am also going to send some to grandma's house:) Ideally, I want her to start pointing to the picture that has what she wants on it, wants to do, or how she feels. For that reason I have temporarily placed pics of things like McDonald's, cookies etc. just to get her interest. I guess we will see how it goes. I am also printing out her information on medication and routines then laminating everything. I am going out of town for a couple days soon and thought this would be great for the babysitter.

The possibilities are endless with the Boardmakers program. I am only using it right now for "Boards" but you can create talking books, behavior supports, schedules, reward chats, practice lessons, graphs and more. It's great for parents, therapists and teachers. Boardmaker also has some great iPad apps-we are trying some sign language ones right now. You can download a 30day trial version-which I am using and someday may try to purchase if it goes well with Asia...I think I am so excited about it because I am ready for her to be able to communicate with us better and I am willing to try anything. I picture her going to the fridge and pointing to the picture that says something like "thirsty" and I want to cry:)  HOPE.
Here is the link for Boardmaker and some of my samples.


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