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

Friday, July 25, 2014

Breaks are hard

I have said it many times...but I'm serious. Asia does so much better during the school year. Breaks are hard on her. Even though she is in summer school ESY, which runs 3 days a week for a few hours it's not enough and it ends next week. It's like she doesn't know what to do with herself. School gives her a routine, a challenge, excitement and home is "boring". It's hard for us to go out and do things right now. With little ones at home and Asia acting like a 2 year old most of the time we can't go anywhere unless Dad is home to help us out. Swimming or parks are virtually impossible, she runs one way and my two year old runs the other. I have to do things with them one-on-one, so that requires finding sitters. So in the home, she is the unexpected tornado that whips through and destroys everything in sight-and she finds it funny! Argh! She dumps out the cereal boxes, rips the wallpaper off her walls, she starts things in the microwave (things that should never be in a microwave), she tears up books, empties the fridge and cupboards, throws stuff in the toilet, she colors on the tile floor, she'll get 10 slices of bread and smash them in her hands, if the door is unlocked she'll run away, she doesn't understand what "glass" is.... and really the list could go on forever. You have to watch her like she is "2". She only ever wants my phone, to look at the pictures on it. I wish she would find a new interest. I just hate having her sit all day on the phone. She flips out when she can't have it.

She brings me back to the reality of her syndrome when she tries to eat things she shouldn't like the flowers outside, soap or crayons, throws her plate of food at you or dumps out her drinks, I hate to admit that this has now happened three times but if I step out of the room while she is bathing she finds the toilet plunger to bathe with-ahhhh, I can't think of anything more disgusting, can you!  She is not sleeping very well? We had to replace her french door on her bedroom to a regular door for fear of her breaking it-she bangs on her door with her hands or toys to try and get your attention in the middle of the night. There are some nights I am surprised if she gets more than a few hours of sleep. Not sure what is going on, maybe it is seizure activity. Most summers I am sad when school begins but this year I am so ready. I can't get a single thing done right now-my 6 year old will even be in school all day:) After all of this, life with Asia is still better than it used to be:) At least she is more pleasant, happier and she now will walk up behind me and give me the hugest hugs and rock back and forth making a humming sound. She says "love you" and want you to hold her like she really is "2". She even initiate kisses-which is so sweet. This all helps when I am pulling my hair out.

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