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, August 12, 2014


Wow, is it the super-moon that makes her super crazy?? Maybe it makes me crazy?? Is there any studies on this? Asia has been so frustrating! It's been a couple days of food fights, temper tantrums, screaming, slapping and poo! Yes, poo-I have done about a zillion loads of laundry in the last few days because she keeps taking off her diapers at night. In the morning everything is a mess, I've had way enough of this! Today I had two loads of her clean laundry on her floor from last night, yes back in the washer today. She is back to throwing her food and drinks if she is upset-or looking for attention. I was told that she even pulled the table cloth off of the dinner table, food and all (twice) at grandmas during Sunday dinner, how embarrassing-and it was with family! She is fighting a lot with my two year old-hitting and slapping, seriously?

On the other hand, she has never in her life given me so many big bear hugs. It is one crazy roller coaster. 

A few things I have noticed lately...

Asia finally get's it when I tell her the battery on her iPad or the phone is "dead"-woohoo! This seems so silly but I swear she did not understand why her iPad would stop working or why I would take it away from her when it did. She would get so angry and have a meltdown every time this happened-this helps out a lot:)

She is a broken record. I wish there was a way to record how many times she says "mama" in one day. It has got to be hundreds. It's pretty annoying-sorry, I should be glad she says "mama" and she just says it to get my attention or show me that she loves me but, WOW. Part of her "repetitive behavior"? It would be nice to have it quiet down a bit.

Asia grinds her teeth and it's really bad. I can see the roots in her teeth and her teeth are just "nubs" right now. It has got to be painful. There is not much we can do about it-just hope that she stops when her big teeth come in. She also hasn't lost any teeth yet. A couple of months ago my husband thought her right front tooth was wiggly. It was hard to tell but I swear that tooth is dying now. It seems to be changing color and I swear it is shorter than her other tooth? Which doesn't make sense if it was going to fall out. I can't help but notice it every time I look at her now, she looks different...

She threw up a couple of nights ago...seizures? food? medication? I hope her EEG may provide some answers to why she keeps doing this.

I am a little in shock that she will be starting 3rd grade next week. I remember 3rd grade very well-- friends, practicing cursive writing, math, it's not possible that she is that old. She has so much to learn yet, so much catching up to do. I guess right now it is still about her being "healthy". Nothing else matters until I know she is physically and mentally well. We can learn math, along with the alphabet, colors and everything else later on:)

She has a thing for sleeping on the floor lately. Every night I put her into bed and she pulls her pillow toward me and motions to the floor. I wonder why? I let her but it seems so much more comfy on her bed.

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