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

Tuesday, January 29, 2013

What does Asia think?

There have been a couple of experiences that has changed the way I "handle" Asia. Asia always seemed like she was "in there", that she was fairly normal just couldn't talk. She sure can make tempers flare. As parents, siblings, friends, extended family and  possibly a stranger here and there-she can be naughty and it's is so frustrating to all. I have to watch her when we go out, I worry she will hit a passerby or pull everything off of a supermarket shelf. She may throw a brand new fountain drink on the floor of a restaurant or worse, try to swipe everything off of the table-all glass dishes and food included (all of which she has accomplished). Strangers stare and give those looks of "disgust". I get looks when she is naughty and I get looks for trying to make her happy. I often try to keep her calm by telling her she can have whatever she wants-saying yes to this and yes to that-people think I am creating a "spoiled brat". Crazy thing is, saying yes to Asia rarely calms her down. I would love to know what is going on in her head. She says "book"-yes "mall"-yes "Donald's"-yes...and she still tantrums? We don't understand why she does certain things or acts a certain way. I don't see myself as a mean or angry person, I am generally very laid back, patient and caring but Asia flips that switch sometimes. A few months ago I took a step back and didn't like what I saw in myself. She was infuriating me and Asia has gotten her fair share of time-outs, scoldings, and a swat here and there (not easy to admit). Knowing what I do now, I feel a bit brokenhearted that I couldn't be more patient and a little guilty. When it's 24/7 without many breaks-it wears you down and I lose it. Asia is a angel and that is why I am trying to figure it all out. This year was my first "change of heart" when dealing with these struggles daily-I try to think that "there must be a reason for her actions" and try to be more patient. The following story is something that really touched my heart- a lot of people have seen it but, it is so amazing to me and maybe it will be to someone else.


  1. It's terrible that you get looks of judgement. Obviously this is hard enough without the help of ignorant people, I'll be sure to remember this post next time I see a kid having a tantrum.