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

Saturday, April 12, 2014

Just a update

Gah! I haven't posted on here for awhile! I have been so busy and I do have a few things to report. I am sure I am missing some things but first thing is-I had to buy Asia new clothes and shoes because she has grown! I think she has had the same shoes for 2 years, and I went from her size 5 clothes to 6-8. This sounds weird but, for a child you usually buy new clothes and shoes all of the time because of growth, Asia hasn't been like that-she's a munchkin. Right now she is doing so well. Since we weaned her from one of her anti-seizure medications Topamax, she has gained 5 pounds-yay!!!! Seriously this is so exciting. The girl has weighed the same for years I swear, she is also growing taller. It is great that she is eating a lot more and looks so much healthier. She is also speaking so many new words! She is calmer and more focused. They are even seeing it at school! It only gives us that much more of a desire to take her off of her last medication Depakote-to see her full potential. If she reverts to having a lot of seizures at that point we will try CBD oil before giving her anything else. This also makes me a little worried, I am hoping she is more advanced at her full potential but, she may not be.  I have to remember not to expect to much.
Asia turned 8 years old this month!! She LOVES her birthday and we took her to one of her favorite places for a birthday party with all of her cousins-to ride the carousel. She was so into it this year-really fun to see. I'll be taking new pictures of her in the next month or so, it seems like I just did this:)
I don't want to forget to mention on here that it is Autism Awareness Month (1 in 68 people) . Autism affects so many friends & family and Asia is ASD (autistic spectrum disorder). Spread the awareness!!
We are currently on spring break and she def needs to go to school. Everyday she asks for the "bus" and she is getting cabin fever! We go out but, when inside she completely destroys the house and melts down a little, she thinks it's funny to scream and slam doors-she just needs the school routine. She turns into kind of a monster when she is out of that routine.

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