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

Wednesday, February 20, 2013

Mischeif Maker

So, I finally received my awaited phone call last night:) Asia's Neurologist is going to send me Lab results, try to get her into a geneticist sooner then next November, fax all info to her pediatrician-so he can refer me to any other specialist's she might need and he will call me with any further findings related to seizures and Chromosome2. As of right now seizures are Asia's main problem.

Asia is still doing well with no seizures and I love it because her personality starts to come back-she is such a TEASE. Asia loves mischief! Anything that is even close to being defiant is so funny to her. She really teases her school bus drivers and aides when she is feeling better-every time she gets off the bus. She thinks her brothers are funny, especially when they are causing trouble and she is so much more pleasant-thankfully! I love seeing this side of her even though someone is bound to get in trouble. She def has her moments during the day-today it was kicking...I cant help but swear (in my mind) when she kicks me in the gut. Her legs are getting longer and if she is not in a happy mood when I am changing her clothes or diaper I get kicked-chest, gut, head what ever is in the way gets it and man it is so hard to keep my composure. She even tried to kick the baby...that really gets me upset. He already mimics her screaming really well, I hope he doesn't learn to mimic her hitting and kicking...or, what I really wish would happen is that she would get over it. Something to hope for:)

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