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, January 31, 2013


It's getting harder and harder to take Asia anywhere. With her hypotonia (muscle weakness), she tires easily. Majority of the time she would prefer to sit in the car by herself then get out and be carried somewhere. Daddy usually does the carrying and if she is not in the mood he gets hit a lot or his hair pulled. We toy with the idea of going on vacation but we are apprehensive. Asia does like to go on rides at amusement parks, she likes to be somewhere that she can just sit and observe. She remembers the beach and wants to go there. She has a short attention span, and a sensory processing disorder so I think getting a thrill from a ride, or being able to people watch etc helps her calm. We have noticed that if she is strapped down-like in a stroller, car seat or high chair she usually calms down. I think she could walk all day in a stroller. Asia loves to go to the mall and be pushed in the stroller. It's one of her favorite things to do and she is always asking for the "mall". She gets mad if you go into a store (unless its Disney) and she wants to walk the entire time.  Long story short:) She is getting so big! and she's still growing. Regular strollers are getting to small. I looked into some special needs adolescent strollers and whoa! They are pricey. We have thought about Disneyland and we have heard that they are great with kids who have special needs but, we would need a good stroller for her. Not even just Disney but anywhere-it would need to be great for any surface. So far I haven't been able to find any "used" ones and the new ones I found look great but I don't know when I would ever have a few grand to drop on stroller-before accessories? The less expensive one looks ok but, its still $800? I'll have to keep working on this one...

Typical Day-
Still waiting on Dr phone call-
Yay for the sunshine and blue skies-

These ones I found with Flaghouse-they have a lot of great special needs items.
This is a good one-$3299.00 before tax, shipping or any accessories.
This one looks like she would outgrow-$759.00 before tax, shipping and accessories. If she outgrows may not be worth it.

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